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  • ZIB Catalog
  • Articles: DFG German National Licenses  (13,456)
  • Opus Repository ZIB
  • 2000-2004  (44)
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  • Inorganic Chemistry  (12,181)
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  • ZIB Catalog
  • Articles: DFG German National Licenses  (13,456)
  • Opus Repository ZIB
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  • 1
    Electronic Resource
    Electronic Resource
    A study of Italian families with cluster headache (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S165 
    Details
    ISSN: 1129-2377
    Keywords: Key words Cluster headache ; Familial occurrence ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A Danish genetic study showed increased risk of cluster headache (CH) among relatives of CH patients. We studied the families of 191 CH patients (118 males, 73 females; mean age 45.9 years) attending the Milan Headache Center. Information on 3589 relatives was collected by direct interview of the probands (n = 118) or by mailed questionnaire (n = 73). The diagnostic criteria of the IHS were used. A positive family history was found in 19% (37 of 191) of the families. A total of 32 first-degree (32 of 1036, 3.1%) and 15 second-degree (15 of 2553, 0.6%) relatives were affected. The relative risk of CH was 26.89 (95% CI, 17.57–36.21) in the first-degree relatives and 4.35 (95% CI, 2.13–5.21) in second-degree relatives. This study shows increased familial risk of cluster headache in an Italian population and confirms that cluster headache is, in some families, and inherited disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070012
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular genetics and migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S135 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Headache ; Genetics ; Serotonin ; Dopamine ; Mitochondria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine carries a significant hereditary determination. Familial hemiplegic migraine (FHM) has been recently linked to mutations in the CACNA1A gene on chromosome 19. CACNA1A codes for a subunit of a neural calcium channel. Other linkage loci on chromosome 1q21-23 and 1q31 have been reported. Several linkage and association studies have been performed to determine the role of the CACNA1A gene, and of other candidate genes implicated in the metabolism of serotonin and dopamine, in the more common types of migraine. Co-morbidity of migraine with vascular events has been analysed versus genetic prothrombotic factors and mitochondrial DNA, and genes involved in the inflammatory cascade have been explored. Though no definite conclusions have emerged from these studies as yet, molecular genetics of migraine can be expected to unravel the complex aetiologies of these fascinating diseases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070007
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  • 3
    Electronic Resource
    Electronic Resource
    Molecular variation within the dopamine receptor DRD2 gene in migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S147 
    Details
    ISSN: 1129-2377
    Keywords: Key words Dopamine ; Migraine ; Genetics ; DRD2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Molecular genetics offers a novel approach to the understanding and management of migraine since the disorder is known to have a strong genetic component. In recent studies, polymorphisms in the genes for dopamine receptors have been evaluated. Both positive and negative association studies have been reported. In particular, these data suggest that activation of the DRD2 receptor plays a modifying role in the pathophysiology of migraine. As a result, existing data provide a molecular rationale for the documented efficacy of dopamine D2 receptor antagonists in the treatment of migraine. Therefore, at the present time, molecular genetic data provide support for the hypothesis that susceptibility to migraine may be modified, in part, by variations in dopamine DRD2 receptor function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070009
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  • 4
    Electronic Resource
    Electronic Resource
    Genetic factors in migraine and chronic tension-type headache (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S157 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Chronic tension type headache ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Pathophysiological studies have dominated migraine research for several years. However, these studies are difficult to interpret because it is difficult to decide whether the observed phenomena are primary or secondary to the migraine attack. For that reason it is important that future migraine research focus on studies that concern migrain etiology. Migraine is a paroxysmal disorder. It is most likely and ion-channel disorder like familial hemiplegic migraine. The present paper focuses on genetic factors in migraine and chronic tension-type headache.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070011
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  • 5
    Electronic Resource
    Electronic Resource
    Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease (2000)
    Springer
    Neurosurgical review 23 (2000), S. 1-22 
    Details
    ISSN: 1437-2320
    Keywords: Key words Von Hippel-Lindau disease ; Hemangioblastoma ; Endolymphatic sac tumor ; Angiogenesis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome caused by germline mutations of the VHL tumor suppressor gene. Major progress has been made in the last decade in both clinical and fundamental aspects of VHL. The VHL gene product, pVHL, has major and multiple functions: pVHL regulates not only first angiogenesis but also extracellular matrix formation and the cell cycle. A molecular diagnosis of VHL is now available, leading to a transformation in clinical management of patients and their families. Diagnosis of VHL has to be suspected in patients with a VHL-related tumor without familial history and especially in case of hemangioblastoma or endolymphatic sac tumors. Such patients should be systematically investigated for clinical and molecular evidence of VHL disease. Treatment of symptomatic hemangioblastomas remains mainly neurosurgical, often in emergency, but stereotactic radiosurgery is emerging as an alternative therapeutic procedure. In the future, antiangiogenic drugs could represent a potential medical treatment of CNS hemangioblastomas in view of their highly vascular structure. Lastly, visceral manifestations of VHL disease are also of critical importance and require early detection for effective treatment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101430050024
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  • 6
    Electronic Resource
    Electronic Resource
    Tissue Engineering mit mesenchymalen Stammzellen zur Knorpel- und Knochenneubildung (2000)
    Springer
    Der Chirurg 71 (2000), S. 1001-1008 
    Details
    ISSN: 1433-0385
    Keywords: Schlüsselwörter: Tissue Engineering ; Mesenchymale Stammzellen ; Knochen ; Knorpel. ; Keywords: Tissue engineering ; Mesenchymal stem cells ; Bone ; Cartilage.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract. Tissue engineering offers the possibility to fabricate living substitutes for tissues and organs by combining histogenic cells and biocompatible carrier materials. Pluripotent mesenchymal stem cells are isolated and subcultured ex vivo and then their histogenic differentiation is induced by external factors. The fabrication of bone and cartilage constructs, their combinations and gene therapeutic approaches are demonstrated. Advantages and disadvantages of these methods are described by in vitro and in vitro testing. The proof of histotypical function after implantation in vivo is essential. The use of autologous cells and tissue engineering methods offers the possibility to overcome the disadvantages of classical tissue reconstruction – donor site morbidity of autologous grafts, immunogenicity of allogenic grafts and loosening of alloplastic implants. Furthermore, tissue engineering widens the spectrum of surgical indications in bone and cartilage reconstruction.
    Notes: Zusammenfassung. Tissue engineering ermöglicht die Herstellung lebender Konstrukte zum Gewebeersatz durch die Kombination histogener Zellen und biokompatiblen Trägermaterialien. Pluripotente mesenchymale Stammzellen können isoliert, ex vivo vermehrt und ihre gewebetypische Differenzierung durch Faktoren induziert werden. Es wird die Herstellung von Knochen- und Knorpelkonstrukten, deren Kombination sowie gentherapeutische Ansätze dargestellt. Vor- und Nachteile der Methoden werden durch in vitro und in vivo Testung beschrieben. Essentiell ist der Nachweis der gewebetypischen Funktion der Konstrukte nach Implantation in den Defekt. Die Verwendung autogener Zellen und Methoden des Tissue engineerings bietet die Möglichkeit die Probleme des klassischen Gewebeersatzes – Morbidität der autogenen Spenderstelle, Immunogenität des allogenen Transplantats und Lockerung von alloplastischen Implantaten – zu überwinden und erweitert das Indikationsspektrum in der rekonstruktiven Chirurgie.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001040070002
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  • 7
    Electronic Resource
    Electronic Resource
    Verstärkung der Expression von Wachstumsfaktoren durch adenoviralen Gentransfer Eine neue Methode zur Frakturbehandlung? (2000)
    Springer
    Der Chirurg 71 (2000), S. 995-1000 
    Details
    ISSN: 1433-0385
    Keywords: Schlüsselwörter: Gentherapie ; Knochen ; Fraktur ; Wachstumsfaktoren. ; Keywords: Gene therapy ; Bone ; Fracture ; Growth factors.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract. Gene therapy in orthopedic surgery is a new technic based on the idea of biological tissue healing. External gene segments are transferred to cells that overexpress growth factors locally to achieve this effect. The influence of growth factors on fracture healing is very well documented in the literature. Experimental data demonstrate that defect healing in bone can be accelerated by the application of different cytokines in vivo. Gene transfer is a promising, new technic of in situ tissue engineering that will enter clinics within the next decade.
    Notes: Zusammenfassung. Gentherapie in der Orthopädischen Chirurgie ist eine neue Technik, die auf der Idee basiert, die biologische Gewebeheilung zu unterstützen. Um dies zu erreichen, werden externe Gensegmente auf Zellen transferiert, die in Folge vermehrt Wachstumsfaktoren im Bereich der Fraktur produzieren. Die Wirkung von Wachstumsfaktoren auf die Frakturheilung ist gut dokumentiert. Die bislang durchgeführten tierexperimentellen Studien demonstrieren eine gute Beeinflussbarkeit der knöchernen Defektheilung. Der Gentransfer kann als eine neue erfolgversprechende Technik des in situ Tissue Engineering angesehen werden, mit deren klinischer Anwendung in der nächsten Dekade gerechnet werden darf.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001040051173
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  • 8
    Electronic Resource
    Electronic Resource
    Bioactive materials to control cell cycle (2000)
    Springer
    Materials research innovations 3 (2000), S. 313-323 
    Details
    ISSN: 1433-075X
    Keywords: Keywords Glass ; Cell cycle ; Genes ; Bone ; Bioactive materials ; Osteogenesis ; Prostheses ; Omplants ; Ageing ; Osteoblasts
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Abstract  Many of the present generation biomaterials are still based upon the early concept that implantable materials should be bioinert and therefore designed to evoke minimal tissue response, if none. However, a growing body of clinical data demonstrates that the long survivability of these materials is hampered by high rates of failure, which is primarily attributed to interfacial instability. It has therefore become understood that this approach is not optimal. Modern approaches implicate the use of biomaterials that can actively interact with tissues and induce their intrinsic repair and regenerative potential. This involves control over the cell cycle, the molecular framework that controls cell proliferation and differentiation. Class A bioactive glass-ceramic materials were the first materials shown to endorse these properties and, depending upon the rate of resorption and release of ions, can create chemical gradients with specific biological actions over cells and tissues. Optimising this bioactive regenerative capacity of Bioactive glass-ceramics offers great hope for producing biomaterials that can stimulate growth, repair, and regeneration of any human tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100190000055
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  • 9
    Electronic Resource
    Electronic Resource
    A morphological study of bone and articular cartilage in ochronosis (2000)
    Springer
    Virchows Archiv 436 (2000), S. 74-81 
    Details
    ISSN: 1432-2307
    Keywords: Key words Ochronosis ; Bone ; Cartilage ; Arthropathy ; Alkaptonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  An ochronotic femoral head has been studied morphologically under the light and the electron microscope. Its articular cartilage showed the alterations already reported in the literature, mainly consisting of erosions of the surface, pigment accumulation in chondrocytes and intercellular matrix, chondrocyte degeneration, the formation of pigmented, calcified and uncalcified microshards, and the presence of granulation tissue with macrophagic cells. The changes in bone were less severe than those in cartilage. Pigment was present in the calcified matrix. This did not seem to disturb the organization of the bone tissue, although it was diffusely osteoporotic, perhaps because of limb disuse. The preservation of calcified matrix might depend on the fact that its collagen fibrils are encrusted by mineral substance, which avoids the dangerous effects that the deposition of ochronotic pigment induces in the fibrils of soft connective tissues. On the other hand, the newly formed osteoid matrix remains uncalcified for too short a time to be modified by the pigment. Diffuse or granular pigmentation was found in a few osteocytes, while several of them were condensed or reduced to cellular fragments. Bone resorption often occurred near these osteocytes. However, this did not seem to alter the degree of bone remodelling, possibly because of the relatively low numbers of degenerated or dead osteocytes. Pigment was also contained in the cytoplasmic vacuoles of otherwise active osteoclasts, whereas it was not found in osteoblasts. On the whole, ochronosis in bone seems to induce the same changes as in other connective tissues. However, their severity appears to be limited by calcification, which prevents modifications in collagen fibrils, and by bone remodelling, which to some extent eliminates the oldest, pigment-richest parts of the tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00008202
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  • 10
    Electronic Resource
    Electronic Resource
    Dopamine genes and migraine (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S153 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Dopamine ; Hypersensitivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Migraine is a common chronic disorder with an etiology still mostly unknown. Several neurotransmitters such as dopamine and serotonin are considered to be involved in the pathogenesis of the disease and the study of their systems is crucial in the understanding of migraine. Dopaminergic receptors are variously represented in human CNS and periphery. The hypothesis that a hypersensitivity of the dopaminergic system may have a role in migraine is based on clinical and genetic data. Genetic data are represented by association studies using dopaminergic genes as candidate genes which show that the D2 receptor gene appears to be involved in the pathogenesis of migraine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070010
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  • 11
    Electronic Resource
    Electronic Resource
    HLA and migraine genes (2000)
    Springer
    The journal of headache and pain 1 (2000), S. S141 
    Details
    ISSN: 1129-2377
    Keywords: Key words Migraine ; Genetics ; Human leukocyte antigens ; Heredity ; Susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Human leukocyte Antigens (HLA) are encoded by genes located on chromosome 6p21. Genes important in migraine are being recognized in two basic ways: association studies and linkage analysis. One of the strongest associations is with the HLA region. Actually, genome scan studies suggest that multiple genes are involved in both migraine without aura (MWoA) and migraine with aura (MWA). However, both MWoA and MWA are disorders in which multiple factors, including environmental and genetic factors, confer disease susceptibility. Linkage analysis is identifying new candidate genes that will help to explain the etiology of migraine. In this review previous studies regarding genetic susceptibility to migraine are analyzed, particularly those related to the HLA region. I discuss evidence that HLA shared-hyplotypes in MWoA-affected pairs in different than that expected, that HLA-DR2 antigen provides additional basis for the proposed genetic heterogeneity between MWoA and MWA, and lastly that TNFB gene studies seem to play an important role in the susceptibility to MWoA. In the past years, major advances hae been made in understanding the genetic foundation of MWoA and MWA. Our reported genome-scan studies support the concept that MWoA/MWA are coinherited with a particular HLA region. However, the examination of candidate genes (Ca2+ channel, vascular, CNS, etc.) in a large migraine population seems to be the correct direction in which we have to move. More MWoA/MWa gene studies are needed to test this developing hypothesis and to further establish the complete genetic scenario of migraine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s101940070008
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  • 12
    Electronic Resource
    Electronic Resource
    Progress in the clinical and molecular genetics of familial parkinsonism (2000)
    Springer
    Neurogenetics 2 (2000), S. 207-218 
    Details
    ISSN: 1364-6753
    Keywords: Key words Parkinson's disease ; Familial Parkinson's disease ; Synuclein ; Parkin ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT¶Parkinson's disease (PD) is a neurodegenerative disease with clinical features resulting from deficiency of dopamine in the nigrostriatal system. Most PD cases are sporadic and the primary cause of the disease is still unknown. Recently, familial PD and parkinsonism have received much attention because these forms of the disease might provide clues to the genetic risk factors involved in the pathogenesis of idiopathic PD. To date, two causative genes, α-synuclein and the parkin gene, have been identified. α-Synuclein is involved in the pathogenesis of an autosomal dominant form of PD and constitutes a major component of the Lewy body, which is a pathological hallmark of idiopathic PD. In addition, mutations in the parkin gene have been identified as the cause of autosomal recessive juvenile parkinsonism (AR-JP). AR-JP manifests itself as a highly selective degeneration of the substantia nigra and the locus coeruleus, but without Lewy body formation. In addition to these two genes, four chromosomal loci have been linked to other forms of familial PD. Furthermore, there are a number of other pedigrees of familial PD in which linkage to known genetic loci has been excluded. Molecular cloning of these disease genes and elucidation of the function of their gene products will greatly contribute to our understanding of the pathogenesis of idiopathic PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100489900083
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  • 13
    Electronic Resource
    Electronic Resource
    Association of TNFA gene polymorphism at position –308 with susceptibility to irritant contact dermatitis (2000)
    Springer
    Immunogenetics 51 (2000), S. 201-205 
    Details
    ISSN: 1432-1211
    Keywords: Key words Skin ; Genetics ; TNFA ; ¶Inflammation ; PCR-RFLP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  Mechanisms underlying susceptibility to skin irritants are not clearly understood. Cytokines play a key role in inflammation, and functional polymorphisms in cytokine genes may affect responses to irritants. We investigated the relationship between polymorphism in the tumor necrosis factor (TNF) α-chain gene and responses to irritants. Volunteers (n=221) tested with sodium dodecyl sulfate (SDS) and benzalkonium chloride (BKC) were divided into responders and nonresponders and high and low irritant-threshold groups. DNA was assayed for the TNF-308 polymorphism by a polymerase chain reaction-restriction fragment length polymorphism method. There was a significant increase in the A allele (P=0.030) and AA genotype (P=0.023) in both the SDS low irritant-threshold group and in SDS responders (A allele P=0.022, AA genotype P=0.048). In the BKC low irritant-threshold group, we found a significant increase in the A allele (P=0.002) and AA genotype (P=0.016). Individuals with a low threshold to both irritants demonstrated a significant increase (P=0.002) in the A allele. This is the first description of a nonatopic genetic marker for irritant susceptibility in normal individuals. Genotyping for theTNF-308 polymorphism may thus contribute to screening of individuals deemed at risk of developing irritant contact dermatitis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050032
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  • 14
    Electronic Resource
    Electronic Resource
    Susceptibility to critical illness: reserve, response and therapy (2000)
    Springer
    Intensive care medicine 26 (2000), S. S057 
    Details
    ISSN: 1432-1238
    Keywords: Key words Critical illness ; Intensive care ; Severity of illness ; Scoring systems ; Genetics ; Susceptibility ; Education
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Risk of critical illness is determined both by genetic and environmental influences, particularly those relating to infectious and cardiovascular diseases. Physiologically-based scoring systems cannot measure prior risk because they do not quantify physiological reserve independently of the acute illness. Genetic profiling could be useful for risk assessment. Early detection of critical illness involves identifying physiological ’triggers' for referral; this requires the education of nursing and medical staff in their significance. Analysis of the relationship between risk factors and interventions may need complex modelling techniques. Therapeutic strategies depend on the nature of the underlying problem: the most useful are likely to be those which enhance tissue oxygen delivery and resistance to infection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001340051120
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  • 15
    Electronic Resource
    Electronic Resource
    Oligohydramnion, renal failure and no pulmonary hypoplasia in glomerulocystic kidney disease (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 319-321 
    Details
    ISSN: 1432-198X
    Keywords: Key words Glomerulocystic kidney disease ; Oligohydramnion ; Renal failure-neonate ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants’ parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants’ siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670050767
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  • 16
    Electronic Resource
    Electronic Resource
    Molecular bone morphometry (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 629-635 
    Details
    ISSN: 1432-198X
    Keywords: Key words Histomorphometry ; In situ hybridization histochemistry ; Molecular morphometry ; Immunohistochemistry ; Bone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Quantitative histomorphometric assessment of bone biopsies represents a powerful and informative method for the study of metabolic bone diseases. It is the gold standard against which the noninvasive ”diagnostic” markers of bone metabolism as well as newly available therapeutic modalities are tested. With the rapid progress in technology of molecular biology, identification of systemic and local biomolecules known to regulate bone metabolism can now be achieved. The study of localization, levels of expression, and synthesis of these factors in bone and its microenvironment is possible through applications of in situ hybridization histochemistry (ISHH) and immunohistochemistry (IHC). Application of ISHH allows study of specific mRNA expression. IHC determines the presence and distribution of target protein in cells. These two methodologies provide the link between the cellular processes of mRNA transcription and translation to the working protein. Combining the established bone histomorphometric techniques with ISHH and IHC elevates the study of bone to new heights, i.e., cellular and molecular mechanistic issues can now be studied.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670000345
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  • 17
    Electronic Resource
    Electronic Resource
    Analysis of muscle strength and bone structure in children with renal disease (2000)
    Springer
    Pediatric nephrology 14 (2000), S. 669-672 
    Details
    ISSN: 1432-198X
    Keywords: Key words Renal disease ; Bone ; Muscle ; Renal osteopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Bone structure and muscular strength of 30 children with renal disease were investigated by peripheral computed tomography and grip strength. Sixteen children suffered from nephrotic syndrome (NS) and had previously been treated with corticosteroids. Fourteen children suffered from chronic renal failure (CRF) ranging from mild renal failure to end-stage renal disease. Six children had received kidney transplants and corticosteroids for immunosuppression. There was a significant decrease in grip strength of children with NS (SD –0.91± 1.5; P=0.042) and children with CRF (SD –1.38±1.4; P〈0.001) compared with normal children. Furthermore, there was a significant correlation between cortical area and grip strength in all children with renal disease (r=0.92; P〈0.0001). Trabecular bone mineral density did not correlate well with grip strength. These findings resemble results found in healthy children. Trabecular bone mineral density was significantly elevated in children with CRF compared with normal children (SD 1.14±1.4; P=0.008).Grip strength as a marker of muscle mass and cortical area as a marker of bone strength correlate well in children with renal disease, similar to the correlation in healthy children. Grip strength is significantly lower in children with NS and CRF compared with normal children. These data suggest that muscular impairment could be involved in renal osteopathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004670000360
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  • 18
    Electronic Resource
    Electronic Resource
    Bridging the gap between molecular genetics and metabolic medicine: access to genetic information (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S183 
    Details
    ISSN: 1432-1076
    Keywords: Key words Database ; Genetics ; Information services ; Internet ; Mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned genes and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) and Orphanet. The main resources on human genes are, in addition to OMIM, the Genome Database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of the National Center for Biotechnology Information is the best example of such an effort with sections on diseases, a genome guide, and locus links. Several databases of genetic testing resources have been established. GeneTests is an on-line genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which is in the process of becoming a European database. Conclusion Even if clinicians do not have as many services at their disposal as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014399
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  • 19
    Electronic Resource
    Electronic Resource
    Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine β-synthase and 5,10-methylenetetrahydrofolate reductase (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S208 
    Details
    ISSN: 1432-1076
    Keywords: Key words Cardiovascular disease ; Cystathionine β-synthase ; Genetics ; Methylenetetrahydrofolate reductase ; Mild hyperhomocysteinaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Over the last decade mild hyperhomocysteinaemia has widely been recognised as a new risk factor for arteriosclerosis and thrombosis. Main regulating enzymes of homocysteine (Hcy) metabolism are cystathionine β-synthase (CBS), methionine synthase and methylenetetrahydrofolate reductase (MTHFR). Early studies on patients with vascular disease described elevated Hcy concentrations after methionine loading and decreased CBS activity, resembling heterozygotes for CBS deficiency. Therefore, heterozygosity for CBS deficiency was proposed as the main cause of mild hyperhomocysteinaemia. However, more recent enzymatic and molecular genetic studies have demonstrated that heterozygosity for CBS deficiency is not or only a very minor cause of mild hyperhomocysteinaemia in vascular disease. We discovered two common genetic causes of mild hyperhomocysteinaemia, the 677C 〉 T and the 1298A 〉 C mutations in the coding region of MTHFR. The 677C 〉 T mutation causes reduced enzyme activity with thermolabile protein properties, elevated Hcy and low-normal or decreased plasma folate levels. The 1298A 〉 C mutation relates also to decreased enzyme activity, but not to thermolabile protein, and Hcy and folate levels are not influenced. However, compound heterozygosity for these two mutations, i.e. individuals with the 677CT/1298AC genotype, have elevated Hcy and decreased plasma folate levels. Gene-enviroment interactions between 677C 〉 T and folate is demonstrated in individuals with the 677TT genotype. Those with low-normal folate have elevated Hcy, whereas those with high-normal folate have normal Hcy concentrations. The elevated Hcy levels due to these mutations can be normalised by administration of folate, but whether folate reduces the risk of cardiovascular disease remains to be established. Conclusion Heterozygosity for cystathionine β-synthase deficiency is a minor cause of hyperhomocysteinaemia. The current data on mutations in the methylenetetrahydrofolate reductase gene do not tell us whether elevated plasma homocysteine plays a causal role in vascular disease. Low cellular vitamin status may be a possible cause and homocysteine may just be a marker for this situation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014405
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  • 20
    Electronic Resource
    Electronic Resource
    Aetiology of overweight and obesity in children and adolescents (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S35 
    Details
    ISSN: 1432-1076
    Keywords: Key words Obesity ; Genetics ; Child ; Nutrient balance ; Energy balance ; Environment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The epidemic diffusion of obesity in industrialised countries has promoted research on the aetiopathogenesis of this disorder. The purpose of this review is to focus mainly on the contribution that European research has made to this field. Available evidence suggests that obesity results from multiple interactions between genes and environment. Parents obesity is the most important risk factor for childhood obesity. Twin, adoption, and family studies indicated that inheritance is able to account for 25% to 40% of inter-individual difference in adiposity. Single gene defects leading to obesity have been discovered in animals and, in some cases, confirmed in humans as congenital leptin deficiency or congenital leptin receptor deficiency. However, in most cases, genes involved in weight gain do not directly cause obesity but they increase the susceptibility to fat gain in subjects exposed to a specific environment. Both genetic and environmental factors promote a positive energy balance which cause obesity. The relative inefficiency of self-adapting energy intake to energy requirements is responsible for fat gain in predisposed individuals. The role of the environment in the development of obesity is suggested by the rapid increase of the prevalence of obesity accompanying the rapid changes in the lifestyle of the population in the second half of this century. Early experiences with food, feeding practices and family food choices affect children's nutritional habits. In particular, the parents are responsible for food availability and accessibility in the home and they affect food preferences of their children. Diet composition, in particular fat intake, influences the development of obesity. The high energy density and palatability of fatty foods as well as their less satiating properties promotes food consumption. TV viewing, an inactivity and food intake promoter, was identified as a relevant risk factor for obesity in children. Sedentarity, i.e. a low physical activity level, is accompanied by a low fat oxidation rate in muscle and a low fat oxidation rate is a risk factor of fat gain or fat re-gain after weight loss. Conclusion Further research is needed to identify new risk factors of childhood obesity, both in the genetic and environmental areas, which may help to develop more effective strategies for the prevention and treatment of obesity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014361
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  • 21
    Electronic Resource
    Electronic Resource
    Progressive pseudorheumatoid dysplasia (2000)
    Springer
    European radiology 10 (2000), S. 1832-1835 
    Details
    ISSN: 1432-1084
    Keywords: Key words: Platyspondyly ; MRI ; Progressive pseudorheumatoid dysplasia ; Bone ; Osteochondrodysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003300000518
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  • 22
    Electronic Resource
    Electronic Resource
    Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis (2000)
    Springer
    Journal of neurology 247 (2000), S. 940-942 
    Details
    ISSN: 1432-1459
    Keywords: Key words Amyotrophic lateral sclerosis ; Genetics ; Presenilin-1 intron 8 polymorphism ; Apoptosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n=72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P 〈 0.04) and allele (P 〈 0.03) distribution between patients and controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070050
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  • 23
    Electronic Resource
    Electronic Resource
    Vascular risk factors in dementia (2000)
    Springer
    Journal of neurology 247 (2000), S. 81-87 
    Details
    ISSN: 1432-1459
    Keywords: Key words Dementia ; Vascular ¶dementia ; Alzheimer’s disease ; Risk factors, stroke ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This review describes differing profiles of vascular risk factors in different types of dementia. Although vascular risk factors are related to various types of strokes, their independent effect on the occurrence of poststroke dementia appears to be small. Various risk factors have been identified for microangiopathy-related cerebral abnormalities, such as white matter changes and lacunae, which are the core lesions for the development of a vascular dementia syndrome without stroke symptoms. Most consistently, arterial hypertension and diabetes mellitus have been found to be associated with such brain abnormalities. Diastolic blood pressure seems to be of particular importance as recent investigations demonstrate that this factor is related to the course of multiple lacunar strokes and the progression of white matter disease. Epidemiological studies report that various vascular risk factors including arterial hypertension, diabetes mellitus, and atrial fibrillation may also be associated with Alzheimer’s disease. There is also evidence of a direct relationship between Alzheimer’s disease and general atherosclerosis. Further investigations are needed to determine whether these associations are due to the weakness of diagnostic criteria, or whether vascular risk factors indeed modulate the clinical expression of primary degenerative dementia. Common susceptibility genes leading to shared risk factors may be one of the reasons for a higher coincidence of Alzheimer’s disease and vascular dementia than can be expected by chance. A modulatory effect of vascular risk factors in the development of primary degenerative dementia may extend treatment options.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050021
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  • 24
    Electronic Resource
    Electronic Resource
    The monoamine oxidase B gene GT repeat polymorphism and Parkinson’s disease in a Chinese population (2000)
    Springer
    Journal of neurology 247 (2000), S. 52-55 
    Details
    ISSN: 1432-1459
    Keywords: Key words Parkinson’s disease ; Monoamine oxidase B ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Monoamine oxidase B (MAOB) metabolises dopamine and activates neurotoxins known to induce parkinsonism in humans and primates. Therefore the MAOB gene (MAOB; Xp15.21–4) is a candidate gene for Parkinson’s disease (PD). Longer length dinucleotide repeat sequences in a highly polymorphic GT repeat region of intron 2 of this gene showed an association with PD in an Australian cohort. We repeated this allele-association study in a population of 176 Chinese PD patients ¶(90 men, 86 women) and 203 age-matched controls (99 men, 104 women). Genomic DNA was extracted from venous blood and the polymerase chain reaction was used to amplify the appropriate regions of the MAOB gene. The length of each (GT) repeat sequence was determined by 5% polyacrylamide denaturing gel electrophoresis. There was no significant difference in allele frequencies of the (GT) repeat allelic variation between patients and controls (χ2 = 2.48; df = 5, P 〈 0.75). Therefore the longer length GT repeat alleles are not associated with PD in this Chinese population. Possible reasons for the discrepancy between Chinese and Australian populations include a different interaction between this genetic factor and environmental factors in the two populations and the possibility that the long length GT repeat alleles may represent a marker mutation, genetically linked to another susceptibility allele in whites but not in Chinese. Methodological differences in the ascertainment of cases and controls in this cohort could also explain the observed differences. Further study is required to determine whether the longer length GT repeat alleles are true susceptibility alleles in PD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050010
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  • 25
    Electronic Resource
    Electronic Resource
    Progressive supranuclear palsy: earlier age of onset in patients with the τ protein A0/A0 genotype (2000)
    Springer
    Journal of neurology 247 (2000), S. 206-208 
    Details
    ISSN: 1432-1459
    Keywords: Key words Progressive ¶supranuclear palsy ; Genetics ; Clinical characteristics ; Parkinsonism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Genetic studies have detected an association between the presence of the τ gene A0 allele and patients with progressive supranuclear palsy (PSP). This study examined whether patients with this polymorphism exhibit distinct demographic or clinical characteristics. We studied 26 patients who fulfilled clinical criteria for the diagnosis of PSP, 20 who had the A0/A0 genotype and 6 who had other genotypes. A questionnaire on demographic data, past medical history, familial history, and initial symptoms was completed as part of the consultation. A complete neurological examination was performed and PSP symptoms were quantified following Golbe’s PSP disability scale. We found a significant difference in the age at onset of PSP symptoms, which was 65.9 ± 5.3 years in the A0/A0 group and 71.2 ± 5.6 in the non-A0/A0 group (P = 0.016). There were no significant differences in the years from disease onset between the two groups. Symptom severity did not differ significantly in patients with the different A0/A0 genotypes. The detection of significantly lower age at onset with the A0/A0 alleles is consistent with the known association of this genotype as a risk factor for PSP. No significant differences were detected in symptom severity between the two groups of patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050564
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  • 26
    Electronic Resource
    Electronic Resource
    Incidence of CSF abnormalities in siblings of multiple sclerosis patients and unrelated controls (2000)
    Springer
    Journal of neurology 247 (2000), S. 616-622 
    Details
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Siblings ; Genetics ; Oligoclonal bands ; Measles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found that 19% (9/47) of healthy siblings of patients with clinically definite multiple sclerosis had an intrathecal immunological reaction with two or more 2 CSF-enriched oligoclonal bands (OCBs), in contrast to (4%) (2/50) unrelated healthy controls. Furthermore, in this group of nine healthy sibs the measles CSF IgG antibody titers were higher than that of the other sibs and that of controls. There were also differences in the serum titers for measles IgG antibody, which were higher in the group of all healthy sibs than in healthy volunteers, and (as with CSF titers) higher in the subgroup of healthy sibs with two or more 2 CSF-enriched OCBs than the other sibs. Thus a significant proportion of healthy siblings to MS patients have a partially hyperimmune condition similar to that occurring in MS, which in 19% manifested itself as an OCB reaction, in 9% as increased CSF measles IgG antibody titers, and in 21% as increased serum measles IgG antibody titers, these phenomena tending to occur in the same individuals. This condition is characterized by CSF-enriched OCBs with undefined specificity, although some increased antiviral reactivity is found both in the serum and CSF. While it needs further characterization, a genetic trait interacting with common infections is suggested. The recurrence risk of this condition is approximately five times higher than the 3–4% recurrence risk for manifest MS reported for sibs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070130
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  • 27
    Electronic Resource
    Electronic Resource
    Melorheostosis: case report with radiologic–pathologic correlation (2000)
    Springer
    Skeletal radiology 29 (2000), S. 548-552 
    Details
    ISSN: 1432-2161
    Keywords: Key words Melorheostosis ; Dysplasia ; Bone ; Lower extremity ; Radiographs ; Specimen radiographs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Melorheostosis is an unusual mesenchymal dysplasia, which commonly presents on radiographs as longitudinal bars of hyperostosis in osseous structures. We present a case of melorheostosis in the lower extremity of a 20-year-old woman for which detailed radiologic– pathologic correlation was achieved due to amputation of the involved limb.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002560000255
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  • 28
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    Electronic Resource
    Perspectives in pediatric neurosurgery (2000)
    Springer
    Child's nervous system 16 (2000), S. 809-820 
    Details
    ISSN: 1433-0350
    Keywords: Keywords Pediatric neurosurgery ; Molecular biology ; Genetics ; Novel therapeutics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The new millennium beckons for novel advances in the diagnosis and treatment of pediatric neurosurgical conditions. Almost every aspect of pediatric neurosurgery has changed over the last decade. Undoubtedly with the application of knowledge in molecular biology to human disease many aspects of neurosurgery, especially neuro-oncology and the field of neuro-developmental anomalies, will change appreciably over the next decade. Overall, the trend in surgery in general and neurosurgery in particular is toward less invasive procedures and possibly non-surgical interventions. This review will briefly cover many of the important areas of pediatric neurosurgery. We will describe the state-of-the-art of our subspecialty and discuss possible future directions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003810000345
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  • 29
    Electronic Resource
    Electronic Resource
    Re-examination of (in)compatibility genotypes of two John Innes self-compatible sweet cherry selections (2000)
    Springer
    Theoretical and applied genetics 101 (2000), S. 234-240 
    Details
    ISSN: 1432-2242
    Keywords: Key words Cherry ; Genetics ; Compatibility ; Incompatibility ; Isoelectric focusing ; Prunus avium ; Ribonuclease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The (in)compatibility genotypes of two self-compatible sweet cherry selections, JI 2420 and JI 2434, originating from the John Innes Institute were re-examined. The selections and seedlings derived from them were analysed for stylar ribonucleases, which are known to correlate with S alleles, and the outcome of test crosses was recorded. JI 2420, which had been reported previously as S 3 S 4 ", where " indicates loss of pollen activity, was deduced to have the genotype S 4 S 4 ’. For JI 2434, which had been reported previously as S 3 S 4 0 , S 3 S 3 0 or S 3 S 3 ", where 0 indicates loss of pollen and stylar activity, two different clones were identified. One, at East Malling, was deduced to be S 3 "S 4 ; the other, at Ahrensburg, appeared to be S 3 S 3 " or S 3 S 3 0 .
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051474
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  • 30
    Electronic Resource
    Electronic Resource
    Characterisation and analysis of microsatellite loci in a mangrove species, Avicennia marina (Forsk.) Vierh. (Avicenniaceae) (2000)
    Springer
    Theoretical and applied genetics 101 (2000), S. 279-285 
    Details
    ISSN: 1432-2242
    Keywords: Key words Avicennia marina ; Microsatellite ; Mangrove ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  An enriched microsatellite library of the mangrove species Avicennia marina was constructed, in which 85.8% of the clones contained microsatellite sequences. Of the microsatellite repeat sequences isolated, 55.0% were di-nucleotides, 34.2% were tri-nucleotides, 50.0% were perfect, 24.2% were imperfect, and 15.0% were compound. Four different di-nucleotide repeats were isolated with repeat lengths ranging from 5 to 33; ten different tri-nucleotide repeats were isolated with repeat lengths ranging from 3 to 25. The most common di-nucleotide was the AC/TG repeat; the most common tri-nucleotide was the CCG/GGC repeat. Sixteen microsatellite sequences were selected for primer design, and 6 primers were selected to investigate the polymorphism detected among 15 individuals of A. marina from three natural populations in Australia. A total of 40 alleles were detected at 6 microsatellite loci. The number of alleles per microsatellite locus ranged from 5 to 13. On average, 7 alleles were detected per locus. All microsatellite loci showed high levels of gene diversity (heterozygosity), with values ranging from 0.53 to 0.88; the mean value of gene diversity was 0.70. Microsatellite loci were also tested for conservation across Avicennia species. There was a decline in amplification success with increasing divergence between Avicennia species. The results indicate that microsatellites are abundant in the Avicennia genome and can be valuable genetic markers for assessing the effects of deforestation and forest fragmentation in mangrove communities, which is an important issue for mangrove conservation and afforestation schemes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220051480
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  • 31
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    Electronic Resource
    Dopamine D3 receptor variant and tardive dyskinesia (2000)
    Springer
    European archives of psychiatry and clinical neuroscience 250 (2000), S. 31-35 
    Details
    ISSN: 1433-8491
    Keywords: Key words Pharmacogenetics ; Genetics ; Risk factor ; Choreoathetotic movements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the search for genetic factors contributing to tardive dyskinesia, dopamine receptor genes are considered major candidates. The dopamine D3 receptor is of primary interest as dopamine D3 receptor knock-out mice show locomotor hyperactivation resembling extrapyramidal side-effects of neuroleptic treatment. Furthermore, Steen and colleagues (1997) recently reported an association between tardive dyskinesia and a dopamine D3 receptor gene variant. In the present study we tried to replicate this finding. We investigated 157 patients with schizophrenia or schizoaffective disorder receiving long-term neuroleptic medication who never or persistently displayed tardive dyskinesia. As advanced age is a main risk factor for tardive dyskinesia, we also compared older patients with a long duration of schizophrenia not displaying tardive dyskinesia to younger patients with a shorter duration of the illness displaying tardive dyskinesia. However, we found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00007536
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  • 32
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    Electronic Resource
    Dopamine D4 receptor gene polymorphism and personality traits in healthy volunteers (2000)
    Springer
    European archives of psychiatry and clinical neuroscience 250 (2000), S. 203-206 
    Details
    ISSN: 1433-8491
    Keywords: Key words Dopamine receptor D4 ; Genetics ; Personality inventory ; Polymorphism ; Excitement-Seeking
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An association between long alleles of a variable number tandem repeat (VNTR) polymorphism in the dopamine receptor D4 gene and the extraversion related personality traits Excitement and Novelty Seeking has been reported in healthy subjects. In an attempt to replicate the previous findings, 256 healthy Caucasian volunteers were analysed for a potential relationship between the dopamine receptor D4 exon III VNTR polymorphism and Extraversion as assessed by the Revised Neo Personality Inventory (NEO PI-R). The present study did not yield evidence for an association between Extraversion and the dopamine receptor D4 polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004060070025
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  • 33
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    Electronic Resource
    ICAM-1 gene is not associated with multiple sclerosis in sardinian patients (2000)
    Springer
    Journal of neurology 247 (2000), S. 677-680 
    Details
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Genetics ; ICAM-1 gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An increased amount of the intercellular adhesion molecule (ICAM) 1 molecule has been found in the blood of actively relapsing multiple sclerosis (MS) patients, but is unclear whether this enhanced expression is partially causative of the MS process, or whether it is merely an epiphenomenon of the inflammatory-immunological reaction. Using the transmission disequilibrium test (TDT), we studied exon 4 and exon 6 polymorphism of the ICAM-1 gene from 157 families with both parents, one affected and one healthy sib coming from Sardinia, an Italian island having a high incidence and prevalence of MS. TDT did not show variation in the expected 50:50 frequency in transmission in either healthy or affected sibs, using phenotypic or genotypic analysis. Moreover, independence from the predisposing HLA-DRB1-DQA1-DQB1 haplotype was confirmed by TDT analysis performed on the patients stratified according to the presence or absence of the HLA-DRB1, DQA1, DQB1 Sardinian predisposing haplotypes. Our data suggest that the increased expression of the ICAM-1 molecule observed in both blood and periplaque microvessels may be considered a consequence of the inflammatory process rather than the result of a genetic variation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150070109
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  • 34
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    Electronic Resource
    A novel hypersensitive resistance response against potato virus A in cultivar ’Shepody’ (2000)
    Springer
    Theoretical and applied genetics 100 (2000), S. 401-408 
    Details
    ISSN: 1432-2242
    Keywords: Key words Complementary genes ; Extreme virus resistance ; Genetics ; Necrotic tubers ; Restricted virus distribution ; Solanum tuberosum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  The potato cultivar ’Shepody’ is susceptible to a number of potato viruses including potato virus Y (PVY, potyvirus) but was found to possess extreme resistance to another potyvirus, potato virus A (PVA). ’Shepody’ plants were resistant to PVA infection in manual and graft inoculations. PVA replication was not detected in any of the inoculated plants by ELISA, an infectivity assay and RT-PCR. However, ’Shepody’ plants grafted with shoots containing PVA developed a novel symptomology which resembled a virus infection in appearance and in rate of translocation to the entire plant. Efforts to transmit the symptom-inducing agent manually failed. Graft-inoculation to potato virus indicator plants and PVA-susceptible potato plants showed that the symptom inducer was PVA at an extremely low concentration, detected using RT-PCR followed by Southern blot assay. Tubers from grafted but resistant ’Shepody’ plants had necrotic surfaces and internal spots. PVA was detected from necrotic areas but not from the non-necrotic ones. However, plants resulting from necrotic tubers were free from aerial leaf symptoms observed in grafted plants and produced non-necrotic normal tubers. A trace-back of the parental lineage of ’Shepody’ indicated that the resistance had been introgressed from the cultivar ’Bake King’. Analysis of progeny of a cross of resistant ’Shepody’ to the susceptible ’Goldrus’ indicated that this resistance is controlled by two independent dominant complementary genes in contrast to monogenic resistance reported for other potato viruses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001220050053
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  • 35
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    Electronic Resource
    Sequential Changes and Pattern of Bone-Specific Alkaline Phosphatase after Trauma (2000)
    Springer
    European journal of trauma 26 (2000), S. 33-38 
    Details
    ISSN: 1615-3146
    Keywords: Key words Alkaline phosphatase ; Bone ; Lectin precipitation ; Fracture ; Osteoblast activity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Serum activity of bone specific alkaline phosphatase, a product of differentiated osteoblasts, is thought to mirror fracture healing. The precise time course after various conditions involving bone healing is, however, poorly described. The aim of our study was to evaluate sequential changes of bone alkaline phosphatase over a period of 20 weeks in traumatized patients with and without bone injuries. The bone isoenzyme of alkaline phosphatase was determined in frozen serum samples using a new automated procedure based on the wheat germ lectin precipitation method. Patients were stratified into different groups: 1. ST – soft tissue injury without bone participation; 2. DF – diaphysial fracture of tibia or femur; 3. MT – patients suffering from multiple traumas; 4. PF – proximal femur fracture, treated with dynamic hip screw; and 5. EP – femur neck fracture, treated with cemented endoprosthesis. Similar values were obtained in all measured groups on the day of admission (ST 35.83±6.15 U/l; PF 27.37±4.43 U/l; EP 31.09±7.42 U/l). In the following measurements, enzyme activity decreased significantly in all groups to reach a nadir within the first week, ranging between 41 and 82% of the activity immediatly postoperative. Thereafter, a substantial increase occurred in all groups investigated. In the ST group, this increase led to an activity level that was comparable to the first posttraumatic value (39.06±7.81 U/l). In contrast, average values in all other groups revealed a further increase, which was significantly elevated compared to measurements taken the first day after trauma (DF 74.36±10.84 U/l; MT 177.87±30.0 U/l; PF 93.39±22.08 U/l; EP 51,52±7.33 U/l). Additionally, the time to reach the peak in enzyme activity differed between groups. In the MT group, it was observed as early as 3 weeks after injury, in the DF group the peak was reached as late as 6 weeks after trauma. The results of the study indicate that bone alkaline phophatase activity undergoes a specific pattern of changes after trauma. It may be assumed that the initial decrease is part of a general stress response to trauma and operation. The subsequent increase seems to depend from the magnitude of bone repair and the type of fracture healing, e.g. diaphysial fracture healing takes longer time than cancellous bone healing. These results seem to be a useful basis in order to establish a laboratory monitoring of fracture healing in subsequent studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00002436
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  • 36
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    Electronic Resource
    Modeling Tracer Transport in an Osteon under Cyclic Loading (2000)
    Springer
    Annals of biomedical engineering 28 (2000), S. 1200-1209 
    Details
    ISSN: 1573-9686
    Keywords: Bone ; Bone fluid ; Mixing ; Lacunar-canalicular porosity ; Metabolism ; Mass transport ; Poroelasticity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Technology
    Notes: Abstract A mathematical model is developed to explain the fundamental conundrum as to how during cyclic mechanical loading there can be net solute (e.g., nutrient, tracer) transport in bone via the lacunar-canalicular porosity when there is no net fluid movement in the canaliculi over a loading cycle. Our hypothesis is that the fluid space in an osteocytic lacuna facilitates a nearly instantaneous mixing process of bone fluid that creates a difference in tracer concentration between the inward and outward canalicular flow and thus ensures net tracer transport to the osteocytes during cyclic loading, as has been shown experimentally. The sequential spread of the tracer from the osteonal canal to the lacunae is investigated for an osteon experiencing sinusoidal loading. The fluid pressure in the canaliculi is calculated using poroelasticity theory and the mixing process in the lacunae is then simulated computationally. The tracer concentration in lacunae extending radially from the osteonal canal to the cement line is calculated as a function of the loading frequency, loading magnitude, and number of loading cycles as well as the permeability of the lacunar-canalicular porosity. Our results show that net tracer transport to the lacunae does occur for cyclic loading. Tracer transport is found to increase with higher loading magnitude and higher permeability and to decrease with increasing loading frequency. This work will be helpful in designing experimental studies of tracer movement and bone fluid flow, which will enhance our understanding of bone metabolism as well as bone adaptation. © 2000 Biomedical Engineering Society. PAC00: 8716Uv, 8719Rr, 8716Ac
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1114/1.1317531
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  • 37
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    Electronic Resource
    Decreased efficacy of bisphosphonates for recurrences of tumor-induced hypercalcemia (2000)
    Springer
    Supportive care in cancer 8 (2000), S. 398-404 
    Details
    ISSN: 1433-7339
    Keywords: Key words Bisphosphonate ; Hypercalcemia ; Breast cancer ; Bone ; Osteoclast
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Bisphosphonates are now the standard treatment for tumor-induced hypercalcemia (TIH), and pamidronate can normalize serum Ca in at least 90% of the patients treated for the first time. However, there are few data on the treatment of TIH when it recurs, and published results are contradictory. We studied 29 patients with solid tumors, 14 of whom had breast cancer and all of whom were naive to bisphosphonate therapy. They were retreated with pamidronate (median dose 1 mg/kg for both courses) for recurrence of TIH after a median interval of 78 (range 7–297) days. Fourteen of them, 7 of whom had breast cancer, were treated a third time 28 (range 5–79) days after the second course (median dose of pamidronate 1.5 mg/kg). Baseline Ca levels were not significantly different before each course, but the nadirs after each treatment progressively increased, 9.3±0.2 mg/dl, 10.5±0.3 mg/dl, and 12.3±0.4 mg/dl after the 1st, 2nd and 3rd administrations, respectively (P〈0.05). The percentage of treatment failures also progressively increased: 10%, 31% and 85% (P〈0.05). This decreased hypocalcemic effect was essentially observed in patients without bone metastases or with tumors other than breast cancer. Thus, in patients without bone metastases, Ca levels did not decrease at all after the 3rd course, whereas the responses were not significantly different between the three courses in patients with bone metastases. Baseline urinary hydroxyproline, a marker of bone resorption, increased progressively from course to course, especially in patients with bone metastases or breast cancer, but this was not the case for parameters of bone formation. There was also a progressive increase in PTHrP levels accompanied by an increase in the number of patients with enhanced kidney reabsorption of Ca and a decrease in the threshold for Pi excretion, which was significant in patients without bone metastases. In conclusion, pamidronate was progressively less efficient when hypercalcemia recurred. This was observed mainly in patients with hypercalcemia of humoral origin. Tumor progression is accompanied by an enhanced release of osteolytic factors, notably PTHrP, that increase bone resorption and enhance kidney calcium reabsorption, especially in patients without bone metastases. When both phenomena occur, the response to bisphosphonates becomes minimal and the usefulness of therapy questionable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005200050008
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  • 38
    Electronic Resource
    Electronic Resource
    Study of commercially pure titanium implants bone integration mechanism (2000)
    Springer
    European journal of plastic surgery 23 (2000), S. 301-304 
    Details
    ISSN: 1435-0130
    Keywords: Key words Titanium ; Implants ; Bone ; TOF–SIMS
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  In order to study commercially pure (CP) titanium bone interaction and integration mechanism, titanium implant bone interface formed for 1, 3 and 6 months was examined and analyzed by advanced TOF–SIMS analysis. The results obtained show: 1) Titanium and bone tissue integrated closely; 2) The action between CP titanium and bone tissue is a reactive process; both physical and chemical integration occur at the titanium–bone interface; 3) Titanium diffuses into the bone tissue, though the diffusion density is limited; 4) The diffusion area of titanium into bone tissue noted during the follow-up period is up to 100 μm. In this paper the titanium bone integration mechanism was studied, both at molecular and anatomic level.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002380000165
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  • 39
    Electronic Resource
    Electronic Resource
    Effect of self-reinforced polyglycolide membrane on osteogenesis: an experimental study in rats (2000)
    Springer
    European journal of plastic surgery 23 (2000), S. 423-428 
    Details
    ISSN: 1435-0130
    Keywords: Key words Absorbable ; Bone ; Membrane ; Osteogenesis ; Polyglycolide ; Tissue engineering
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  This study is part of a series of studies evaluating self-reinforced polyglycolide (SR-PGA) membranes. The aim of this study was to evaluate the effect of SR-PGA membrane on osteogenesis in order to assess its use in tissue engineering and bone regeneration. SR-PGA membranes (15×20 mm) were implanted over the femoral diaphyseal bone of 27 Wistar rats (over the periosteum). Each membrane was stabilized using a Dexon suture cerclage. Rats were followed-up for 1, 2, 3, 6, 8, 15 and 30 weeks. Histology and microradiography were used to evaluate bone formation. The membranes were excised and tested for their tensile strength properties, the results of which are published in a separate report. Bone formation periosteally was seen in 21/27 cases (77.8%, confidence interval 57.7–91.4). It occurred in all cases at 1, 2 and 3 weeks. At 6 weeks, it was seen in three out of four cases but at 8 weeks, only in one out of three cases. Bone formation seen as thickened cortex was detected at 15 weeks in all of the three cases and at 30 weeks in three out of six cases. Hence, bone formation was seen in most of the cases when SR-PGA membranes were applied around rats’ femora. They can be recommended for use in bone tissue engineering and regeneration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002380000200
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  • 40
    Electronic Resource
    Electronic Resource
    The Utah paradigm of skeletal physiology: an overview of its insights for bone, cartilage and collagenous tissue organs (2000)
    Springer
    Journal of bone and mineral metabolism 18 (2000), S. 305-316 
    Details
    ISSN: 1435-5604
    Keywords: Key words Utah paradigm ; Bone ; Joint ; Ligament ; Biomechanics ; Osteoporosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 1960 paradigm of skeletal physiology, effector cells (chondroblasts, fibroblasts, osteoblasts, osteoclasts, etc.) regulated by nonmechanical agents wholly determined the architecture, strength, and health of bones, joints, fascia, ligaments, and tendons. Biomechanical and tissue-level phenomena had no roles in that paradigm. Subsequent studies and evidence slowly revealed skeletal tissue-level mechanisms and their functions, including biomechanical ones, as well as "game rules" that seem to govern them. That slow discovery process found that effector cells are only parts of tissue-level mechanisms, as kidney cells are only parts of nephrons and wheels are only parts of cars. Normally all those things help to determine skeletal architecture, strength, and health, and adding them to the 1960 paradigm led to the still-evolving Utah paradigm of skeletal physiology that concerns, in part, how load-bearing skeletal organs adapt to the voluntary mechanical loads on them. That caused controversies this article does not try to resolve; instead, it describes some issues they concern. In that regard, controversy can depend on how one assesses the relevance of facts to a problem more than on their accuracy. If a paradigm added new facts to a former one and the new one's advocates viewed all those facts as relevant, but the former's advocates questioned the relevance of some of the new facts, their views about a problem could differ even though each view depended on accurate facts. Readers would make their own judgments about the bearing of those ideas on this article's content.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007740070001
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  • 41
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    Electronic Resource
    A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal (2000)
    Springer
    Neurological sciences 21 (2000), S. S89 
    Details
    ISSN: 1590-3478
    Keywords: Key words Evoked potentials ; Ceroid lipofuscinoses ; Mutation ; Classification ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The importance of visual evoked potential (VEPs) and electroencephalography for diagnosing and distinghishing the infantile (INCL), late-infantile (LINCL) and juvenile (JNCL) forms of neuronal ceroid lipofuscinoses (NCL) is well established. Variant forms with protracted clinical courses and atypical symptoms have been described recently, whose neurophysiological characteristics sometimes overlap those of LINCL and JNCL. It is unclear whether these variant forms are due to phenotypic variability of known genetic defects, or represent new mutations. Twenty-eight NCL patients have been diagnosed at our institute; a proportion of them were investigated genetically. In 17 we performed neurophysiological investigations including VEPs, brainstem auditory (BAEP) and upper limb somatosensory (SEP) evoked potentials. We found typical and diagnostic electrophysiological involvement of the visual system in 8 patients with classic forms of NCL. Furthermore, the distinctive features of the multimodal evoked potentials in most of the six patients with variant NCL suggest that these are distinct genetic entities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070046
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  • 42
    Electronic Resource
    Electronic Resource
    Cavernous angiomas of the nervous system in Italy: clinical and genetic study (2000)
    Springer
    Neurological sciences 21 (2000), S. 129-134 
    Details
    ISSN: 1590-3478
    Keywords: Key words Nervous system ; Cavernous angiomas ; Genetics ; Onset symptoms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a clinical and genetic study of patients affected by cavernous angiomas (CA) of the nervous system. We examined initial signs and symptoms in sporadic and familial cases. We obtained clinical, neuroimaging and genetic data on 15 Italian patients with CA of the nervous system with positive, doubtful or apparently negative family history. Genetic markers surrounding three different gene regions (7q, 3q and 7p) were analysed. In one small family, genetic linkage was consistent with all chromosome loci. In another family with the unusual association of cerebral and spinal CA, linkage with chromosome 7q and, likely, 7p was excluded, while linkage with locus 3q was possible. Our results indicate that Italian families with CA may show genetic heterogeneity. Non-specific and subtle onset symptoms hide the presence of CA within families. Patients with multiple CA may have silent cerebral lesions confirming the low penetrance of clinical signs in spite of radiological ones.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070087
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  • 43
    Electronic Resource
    Electronic Resource
    Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients (2000)
    Springer
    Neurological sciences 21 (2000), S. 373-377 
    Details
    ISSN: 1590-3478
    Keywords: Key words Myoclonus-dystonia ; Essential myoclonus ; Dystonia ; Alcohol ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and 2 women with myoclonus affecting predominantly the arms. Active movements of these segments elicited the dystonic and myoclonic movements. A marked improvement with alcohol intake was seen. Laboratory findings including EEG, SSEP, and cranial CT and MRI were normal. Surface EMG recording showed bursts with duration of 30–112 ms in 3 patients. One patient showed a triphasic recording pattern (agonist-antagonist-agonist) of ballistic type. Our findings suggest that the myoclonus-dystonia disorder is present in Brazilian patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100720070053
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  • 44
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    Electronic Resource
    A back-scattered electron microscopy (BSEM) study of the tight apposition between bone and hydroxyapatite coating (2000)
    Springer
    Journal of orthopaedics and traumatology 1 (2000), S. 11-16 
    Details
    ISSN: 1590-9999
    Keywords: Key words Hydroxyapatite ; Bone ; Interface ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed a back-scattered electron microscopy analysis of the interface between newly formed bone and hydroxyapatite coating, in an experimental rabbit model. Twenty cylinders made of Ti6A14V and coated with hydroxyapatite at different crystallinity were implanted in the distal femural canal and retrieved at 4, 8, 26 an 34 weeks. Crystallinity of the coating varied from 90% to 60% and thickness varied between 50 and 100 μm. Osteocytes were detectable a few micrometers in proximity of the coating. They produced new bone which was so tightly apposed to the coating that high magnification BSEM did not resolve any discontinuity at the interface. This was not observed in uncoated implants. Degradation of the hydroxyapatite coating is not a simple hydrolytic process because newly formed bone is remodelled in areas were a tight apposition with hydroxyapatite is present. The coatint itself is likely to be attacked by the resorptive action of multinucleated giant cells and osteoclasts. In conclusion, response to coated samples is morphologically characterized by tight apposition with bone. The substitution of areas of the coating by newly formed bone is possible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00012192
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  • 45
    Electronic Resource
    Electronic Resource
    Use of doxorubicin and dacarbazine for the management of unresectable intra-abdominal desmoid tumors in Gardner's syndrome (1994)
    Springer
    Diseases of the colon & rectum 37 (1994), S. 260-267 
    Details
    ISSN: 1530-0358
    Keywords: Desmoids ; Genetics ; Chemotherapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: The aim of this study was to describe the natural history and management of surgically unresectable intra-abdominal desmoid tumors in two patients with Gardner's syndrome from two unrelated families, where each had failed on conventional therapy. METHODS: Two patients with Gardner's syndrome were placed on a chemotherapy regimen which included doxorubicin (90 mg/m2) and dacarbazine (900 mg/m2) in divided doses over four days of continuous infusion. Their progress on chemotherapy was assessed by abdominal computerized tomography and laparoscopy. RESULTS: The computerized abdominal tomography scans proved difficult to interpret because of adhesions and matted small bowel resulting from the patients original colectomies. These findings made it difficult to differentiate postoperative changes from residual desmoid tumor. Second-look laparotomy in such patients was contraindicated as this may predispose to further desmoid production. Laparoscopy disclosed a complete response to this chemotherapy. Nevertheless, we had an iatrogenic small bowel perforation in one of these patients. Each patient showed a complete response to chemotherapy. CONCLUSION: Surgical resection remains the first-line treatment of intra-abdominal desmoid tumors. However, doxorubicin/ dacarbazine chemotherapy on a clinical trial basis may be indicated in patients whose intra-abdominal desmoid is unresectable, or who have failed to respond to treatment with hormones (tamoxifen, Toremifene), steroids (prednisone), and nonsteroidal anti-inflammatory agents (Clinoril®; Merck & Co., Inc., West Point, PA).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02048164
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  • 46
    Electronic Resource
    Electronic Resource
    The biochemistry of ancient DNA in bone (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 530-535 
    Details
    ISSN: 1420-9071
    Keywords: Bone ; collagen ; fulvic acids ; DNA ; ancient DNA
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The amount of DNA in ancient bone was determined by ethidium bromide staining after the removal of the potent Taq inhibitor, fulvic acid. A complete decalcification and a perfusion protocol were used to recover DNA from bone. A variety of purification techniques including molecular sieve, hydroxyapatite binding and ‘Magic’ preparations yielded DNA that spanned from 3.4μg/g of bone to below detectable limits. Fulvic acid was shown to interfere with the quantification of DNA derived from ancient human skeletal material one hundred to over seven thousand years old. Scanning UV in the 300 to 230 nm range is a simple and sensitive technique for documenting fulvic acid contamination in ancient bone extracts.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01921721
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  • 47
    Electronic Resource
    Electronic Resource
    Genetic ecology: A new interdisciplinary science, fundamental for evolution, biodiversity and biosafety evaluations (1994)
    Springer
    Cellular and molecular life sciences 50 (1994), S. 429-437 
    Details
    ISSN: 1420-9071
    Keywords: Genetics ; ecology ; DNA-transfer ; conjugation ; transformation ; transduction ; transposons ; dormant cells ; epilithon ; microbial colonisation ; symbiosis ; virus resistance ; biosafety ; release of genes ; insults to humanity ; evolution ; biodiversity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genetic ecology is the extension of our modern knowledge in molecular genetics to studies of viability, gene expression and gene movements in natural environments like soils, aquifers and digestive tracts. In such milieux, the horizontal transfer of plasmid-borne genes between phylogenetically distant species has already been found to be much more frequent than had been expected from laboratory experience. For the study of exchanges involving chromosomally-located genes, more has to be learned about the behaviour of transposons in such environments. The results expected from studies in genetic ecology are relevant for considerations of evolution, biodiversity and biosafety. The role of this new field of research in restoring popular confidence in science and in its biotechnological applications is stressed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01920741
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  • 48
    Electronic Resource
    Electronic Resource
    The effect of homocysteine thiolactone and its alpha methylated derivative on bone matrix in the mouse (1994)
    Springer
    Amino acids 6 (1994), S. 199-203 
    Details
    ISSN: 1438-2199
    Keywords: Amino acids ; Homocysteine thiolactone ; Alpha-homocysteine thiolactone ; Bone ; Glycosaminoglycans
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Homocysteine (HC) is a radiation protector but toxic to bone. Its derivative homocysteine thiolactone (HCTL) and the alpha-alkylated analogue (A-methyl-HCTL) was fed to mice for a period of six weeks in a daily dose of 50 mg/kg body weight. Parameters for bone matrix as collagen content, acid solubility of bone collagen, urinary bone collagen cross links (pyridinolines) and urinary acid glycosaminoglycans were determined. Urinary acid glycosaminoglycans were significantly reduced in the HCTL treated group but not in the alpha-methyl-homocysteine thiolactone (A-methyl-HCTL) group (controls: 45 ± 7 mg/mmol creatinine, homocysteine thiolactone 38 ± 5 mg/mmol creatinine, A-methyl HCTL 45 ± 6 mg/mmol creatinine). No differences were found for the parameters of bone collagen between the groups. The potent radiation protecting methylated derivative therefore did not change bone matrix and should be a candidate for further toxicological studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00805847
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  • 49
    Electronic Resource
    Electronic Resource
    HLA class II genes and antibodies against recombinant U1-nRNP proteins in patients with systemic lupus erythematosus (1994)
    Springer
    Rheumatology international 14 (1994), S. 63-69 
    Details
    ISSN: 1437-160X
    Keywords: Systemic lupus erythematosus ; Recombinant U1-nRNP proteins ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To investigate a possible involvement of HLA-class II alleles in the genetic predisposition for the formation of anti-U1-nRNP antibody in systemic lupus erythematosus (SLE), genomic DNA of 178 patients was typed for the DRB1, DQA1 and DQB1 alleles using a polymerase chain reaction (PCR) and non-radioactive-oligonucleotide typing. Antibodies against recombinant U1-nRNP proteins (U1-A- U1-C-and 70K-protein) were determined by ELISA. Anti-U1-C antibody was found in 26 (14.7%), anti-U1-A in 34 (19.2%) and anti-70K in 17 (9.6%) patients. A joint occurrence was observed for these antibodies against the recombinant U1-nRNP proteins: anti-U1-C and anti-U1-A antibodies occurred together more frequently than alone and than together with anti-U1-70K antibodies. The frequency of DRB1 * 04 was slightly increased in the patients with anti-U1-C as compared to the patients without anti-U1-C (P〈0.05, Pcorr=n.s., RR=2.4). The DQA1 * 0301 allele, which is in linkage disequilibrium with DRB1 * 04, is found more frequently in anti-U1-C-positive than in antibody-negative patients. The DQB1 * 0303 allele, detected in 12 of 176 SLE patients, was absent in the patients with any of the antibodies against the U1-nRNP proteins. All these deviations may be due to chance alone. We concluded that the presence of antibodies against recombinant U1-nRNP proteins was not significantly associated with any HLA DRB1, DQA1 and DQB1 allele in our group of SLE patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00300249
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  • 50
    Electronic Resource
    Electronic Resource
    Myotonic dystrophy and limb girdle muscular dystrophy in one family (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 409-413 
    Details
    ISSN: 1432-1440
    Keywords: Myotonic dystrophy ; Limb girdle muscular dystrophy ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A family is reported in which a 29-year-old woman showed the clinical features of myotonic dystrophy while her 26-year-old brother presented with the clinical picture of limb girdle syndrome. In the affected female, direct genetic testing for the specific myotonic dystrophy mutation on chromosome 19 revealed abnormal expansion of a repeat unit containing the three nucleotides cytosine, thymine, and guanine (CTG) — typical for myotonic dystrophy — while her diseased brother displayed two normal alleles. This supports the hypothesis of the extremely rare occurrence of two clinically and genetically different myopathies in one family. Genetic analysis of six other family members showed that the father of the diseased siblings as well as all of his three brothers and sisters had a pathological CTG repeat expansion, and that the other two family members tested had a normal allelic pattern. The number of CTG repeats in the diseased women was approximately tenfold higher than in her asymptomatic relatives who revealed an abnormal allelic pattern. The increase in CTG repeats with transmission to a subsequent generation in this family was paralleled by a dramatic increase in the severity of myotonic dystrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00252840
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  • 51
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    Electronic Resource
    The time course of renal function and bone turnover in parathyroid crisis due to intratumoral hemorrhage (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 448-450 
    Details
    ISSN: 1432-1440
    Keywords: Parathyroid ; Crisis ; Kidney ; Bone ; Turnover
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Parathyroid crisis occurring in primary hyperparathyroidism is characteized by extremely high circulating levels of parathyroid hormone and acute onset of severe hypercalcemia. We describe a 62-year-old woman with parathyroid crisis probably due to an intraturnoral hemorrhage. Renal dysfunction reduced the effectiveness of preoperative management and continued to deteriorate for 5 days after parathyroidectomy. The normalization of serum calcium after parathyroidectomy delayed and it took 6 days. Maintenance of renal function is important for pre- and postoperative courses of the present case. The rapid decrease in serum parathyroid hormone after parathyroidectomy was followed by a rapid and transient (about fivefold) increase in serum alkaline phosphatase with peak value on the 10th postoperative day. This indicated that reversal phase from bone resorption (accelerated by parathyroid hormone) to bone formation lasted about 10 days under the conditions of the present case.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00180519
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  • 52
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    Electronic Resource
    Comparison of DNA extraction and amplification from ancient human bone and mummified soft tissue (1994)
    Springer
    International journal of legal medicine 107 (1994), S. 152-155 
    Details
    ISSN: 1437-1596
    Keywords: Ancient DNA ; Bone ; Soft tissue ; Automated DNA extraction ; PCR ; Sex determination ; alte DNA ; Knochen ; Weichgewebe automatisierte ; DNA-Extraktion ; PCR Geschlechtsbestimmung
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Description / Table of Contents: Zusammenfassung Für eine vergleichende Untersuchung von Knochen und Weichgewebe als Quellenmaterial für DNA-Analysen wurden südamerikanische, präkolumbische, männliche Mumien verwendet. Die Eignung der DNA-Extrakte beider Quellen wurde über ihre Effektivität als Ziel-DNA in PCR-Amplifikationen bewertet. Die Ergebnisse zeigen, daß bei Verwendung stark degradierten Materials Knochen den Weichgeweben für PCR-Analysen vorzuziehen sind. Dies scheint unabhängig von der spezifischen anatomischen Herkunft der Proben zu sein.
    Notes: Abstract South american precolumbian male mummies were employed as source material for a comparative investigation of bone and soft tissues by DNA analysis. The suitability of the DNA extracts from both sources was tested and evaluated by their effectiveness as target DNA in PCR amplifications. The results suggest that skeletal material should be given preference over soft tissues for PCR analysis if the material is severely degraded. This seems to be independent of the specific anatomical origin of the samples.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01225603
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  • 53
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    Electronic Resource
    Purification of mineralized tissue-associated osteopontin (1994)
    Springer
    Methods in cell science 16 (1994), S. 211-215 
    Details
    ISSN: 1573-0603
    Keywords: Bone ; Bone sialoprotein ; Osteopontin ; Protein purification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A protocol to extract and purify osteopontin, a protein with cell adhesion and mineral-crystal binding properties, from mineral-associated tissues is described. This procedure provides for the complete separation of osteopontin from bone sialoprotein, a mineralized tissue-specific protein with similar properties to that of osteopontin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01540653
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  • 54
    Electronic Resource
    Electronic Resource
    Mixed desmoplastic primitive neuroepithelial tumor of infancy: a light microscopic, immunocytochemical, ultrastructural and genetic study (1994)
    Springer
    Acta neuropathologica 89 (1994), S. 99-104 
    Details
    ISSN: 1432-0533
    Keywords: Key words     Primitive neuroepithelial tumor ; Desmoplastic small cell tumor ; Brain tumor of infancy ; Immunocytochemistry ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      We describe a case of a desmoplastic brain tumor which was initially resected from the right fronto-temporal region in a 2 year-old boy. This nodular, calcified tumor was vascularized by the internal carotid artery and the middle meningeal artery branches. Grossly, it contained several mucoid cysts. Light microscopy showed cords or nests of small cuboidal cells surrounded by a loose connective tissue and desmoplasic areas containing fibers and spindle cells. The cuboidal cells expressed epithelial, neuronal and neuroendocrine markers. Some foci of spindle cells showed glial differentiation. The tumor recurred 16 months later and displayed some characteristics of the small cell neuroepithelial component, mitoses being conspicuous. Electron microscopy revealed undifferentiated clear cells, some containing neurosecretory granules. Karyotyping demonstrated the following formula: 〈 15 〉 46, t(8;11) (q13; q11). The chromosome 11 breakpoint was different from that described in Ewing's sarcoma. This isolated translocation has not been previously reported to our knowledge. These unusual features lead us to report this case and to discuss its pathogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050221
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    Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 185-188 
    Details
    ISSN: 1432-0533
    Keywords: Amyotrophic lateral sclerosis ; Neuropathology ; Posterior column involvement ; Genetics ; Superoxide dismutase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294513
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  • 56
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    Electronic Resource
    Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 185-188 
    Details
    ISSN: 1432-0533
    Keywords: Key words: Amyotrophic lateral sclerosis ; Neuropathology ; Posterior column involvement ; Genetics ; Superoxide dismutase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Several missense mutations within exons 1, 2, 4 and 5 of the gene for Cu/Zn-binding superoxide dismutase (SOD1) have been discovered to be involved in the development of chromosome 21q-linked familial amyotrophic lateral sclerosis (FALS). We describe here an autopsied patient with FALS, in whom we have recently identified a novel missense mutation in exon 1 of the SOD1 gene. The neuropathological findings were compatible with those described previously in patients with FALS with posterior column involvement. This suggests that mutations of the SOD1 gene may be responsible for this form of FALS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294513
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  • 57
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    Electronic Resource
    Three-dimensional photographic study of cancellous bone in human fourth lumbar vertebral bodies (1994)
    Springer
    Anatomy and embryology 189 (1994), S. 259-274 
    Details
    ISSN: 1432-0568
    Keywords: Bone ; Cancellous ; Trabecular ; Age ; Osteoporosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In an analysis of the 3D architecture of cancellous bone, two-dimensional techniques are of limited value. A simple technique employing stereophotographs of whole sections of lumbar vertebrate made possible a detailed description of the 3D structure of the normal fourth lumbar vertebral body and its changes with ageing and osteoporosis. Parallax measurements were used to calculate the real lengths of horizontal trabeculae. The bone presented a continuous spectrum of microstructure, from a honeycomb of tubes, to plates and braces and, finally, fragile rods. A distinct pattern was produced in osteoporotic samples by the removal of horizontal and selected vertical trabeculae followed by a thickening of the remaining vertical trabeculae in the peripheral regions. Very long, thin horizontal trabeculae were formed in all three zones (superior, middle and inferior) during this process. The observation of porotic architecture in intact specimens points to the inadequacy of the clinical criterion of the occurrence of a fracture in judging the osteoporotic state.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00239013
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  • 58
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    Electronic Resource
    Simulation of bone resorption-repair coupling in vitro (1994)
    Springer
    Anatomy and embryology 190 (1994), S. 339-349 
    Details
    ISSN: 1432-0568
    Keywords: Osteoclasts ; Osteoblasts ; Resorption ; Remodelling ; Dentine ; Bone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the normal adult human skeleton, new bone formation by osteoblasts restores the contours of bone surfaces following osteoclastic bone resorption, but the evidence for resorption-repair coupling remains circumstantial. To investigate whether sites of prior resorption, more than the surrounding unresorbed surface, attract osteoblasts or stimulate them to proliferate or make new matrix, we developed a simple in vitro system in which resorption-repair coupling occurs. Resorption pits were produced in mammalian dentine or bone slabs by culturing chick bone-derived cells on them for 2–3 days. The chick cells were swept off and the substrata reseeded with rat calvarial osteoblastic cells, which make bone nodules in vitro, for periods of up to 8 weeks. Cell positions and new bone formation were investigated by ordinary light microscopy, fluorescence and reflection confocal laser microscopy, and SEM, in stained and unstained samples. There was no evidence that the osteoblasts were especially attracted to, or influenced by, the sites of resorption in dentine or bone before cell confluence was reached. Bone formation was identified by light microscopy by the accumulation of matrix, staining with alizarin and calcein and by von Kossa's method, and confirmed by scanning electron microscopy (SEM) by using backscattered electron (BSE) and transmitted electron imaging of unembedded samples and BSE imaging of micro-milled embedded material. These new bone patches were located initially in the resorption pits. The model in vitro system may throw new light on the factors that control resorption-repair coupling in the mineralised tissues in vivo.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00187292
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  • 59
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    Ectopic ossicles associated with metacercariae of Apophallus brevis (Trematoda) in yellow perch, Perca ftavescens (Teleostei): development and identification of hone and chondroid bone (1994)
    Springer
    Anatomy and embryology 190 (1994), S. 29-46 
    Details
    ISSN: 1432-0568
    Keywords: Ectopic ossification ; Ossicles ; parasite infection ; Chondroid bone ; Bone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes the development and tissues in mineralized ossicles in the musculature of Perca flavescens infected with metacercariae of the trematode Apophallus brevis. Analysis involved light microscopy, transmission and scanning electron microscopy, X-ray scanning electron microprobe analysis, and tetracycline labelling. Two to 14 days post-infection, fibroblast-like host cells stream towards the parasite cyst forming a fusiform cellular capsule. By 14 days post-infection the capsule differentiates into an inner hypertrophied layer, an extensive middle layer of fibroblast-like cells, and a thin outer layer of flattened fibroblast-like cells forming a fibrous sheath at the capsule/muscle interface. From 21–35 days post-infection, a bony tissue is deposited periosteally in an equatorial ring around the cyst. With time, additional tissue is secreted over the ring increasing its thickness and advancing the matrix front towards the poles of the ossicle. Plump osteoblast-like cells cover the developing ossicle and may become trapped within the matrix in lacunae encapsulated by collagen. By 63 days post-infection, medium-sized ossicles are morphologically similar to large cysts from perch captured in the wild; ovoid with two polarized canals, but lacking acellular or lamellar bone-like tissue. Mineralized ossicles contain calcium, phosphorus and oxygen. Large ossicles retrieved from perch given multiple doses of tetracycline revealed discrete fluorescent bands, indicative of incremental growth. Fully developed ossicles are composed of two skeletal tissues, an inner region of chondroid bone and an outer region of acellular, lamellar bone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00185844
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  • 60
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    Electronic Resource
    Mitochondrial gene defects in patients with NIDDM (1994)
    Springer
    Diabetologia 37 (1994), S. 372-376 
    Details
    ISSN: 1432-0428
    Keywords: Genetics ; diabetes mellitus ; mitochondria ; maternal ; deafness
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Non-insulin-dependent diabetes mellitus (NIDDM) has a strong genetic component and maternal factors have recently been implicated in disease inheritance. The mitochondrial myopathies are a group of diseases which often show maternal inheritance as a result of mtDNA defects; some patients have impaired glucose tolerance. Occasional families with maternally inherited diabetes and deafness associated with a deletion or point mutation of mtDNA have been reported. To assess the importance of mitochondrial gene defects in NIDDM, 150 unrelated diabetic subjects from Wales, UK and 68 unrelated patients with diabetes and at least one affected sibling from England, UK were studied. Southern blot analysis did not show any large mtDNA deletions or duplications. One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. This mutation is commonly associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS). Study of this patient and his siblings showed a distinct form of late-onset diabetes associated with nerve deafness but no clinical features of the MELAS syndrome. No diabetic subject was shown to have the mtDNA mutation at position 8344 (tRNAlys) which has previously been described in the syndrome of mitochondrial encephalomyopathy and red-ragged fibres (MERRF). The role of other mitochondrial gene defects in diabetes and the pathophysiological basis of glucose intolerance in patients with the MELAS mutation requires further elucidation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00408473
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  • 61
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    Electronic Resource
    Renal eicosanoids and blood pressure in genetically hypertensive rats of the lyon strain (1994)
    Springer
    Journal of biomedical science 1 (1994), S. 201-203 
    Details
    ISSN: 1423-0127
    Keywords: Hypertension ; Eicosanoid ; Rat ; Genetics ; Kidney
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The present paper reviews the evidence for a possible involvement of renal eicosanoids in the pathophysiology of high blood pressure in genetically hypertensive rats of the Lyon strain. Both in vivo and in vitro experiments suggest that an increased ability to synthesize the vasoconstrictor prostaglandin H2 and/or thromboxane A2 in renal vessels (1) acts as an autocrine amplifier of pressor agents and (2) may contribute to resetting the pressure natriuresis curve which is a prerequisite for the development and maintenance of hypertension.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02253302
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  • 62
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    A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population (1994)
    Springer
    Diabetologia 37 (1994), S. 937-944 
    Details
    ISSN: 1432-0428
    Keywords: Genetics ; haplotype ; HLA-A ; HLA-DQ ; HLA-DR ; tumour necrosis factor ; diabetes mellitus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In Finland the haplotype A2, Cw1, B56, DR4, DQ8 is the third most common haplotype in insulin-dependent diabetic (IDDM) patients and has the highest haplotype-specific absolute risk for IDDM. Cw1, B56, DR4, DQ8 haplotypes containing HLA-A alleles other than A2 are infrequent in the population and are not associated with IDDM. Comparison of the A2 and non-A2 haplotypes at the DNA level showed that they were identical at HLA-B,-DR, and -DQ loci. Evidence that class I alleles confer susceptibility to IDDM was obtained from the two HLA-C, -B, -DR and -DQ haplotypes most frequently found in IDDM patients in Finland. A24, A3 and A2 on the Cw3, B62, DR4, DQ8 haplotype, and A28, A2 and A1 on the Cw7, B8, DR3, DQ2 were all found to be associated with IDDM. In Finland these seven haplotypes, including A2, Cw1, B56, DR4, DQ8, account for 33% of diabetic haplotypes and 10.3% of non-diabetic haplotypes (p〈0.00001). The contribution of the class I region to IDDM susceptibility was also apparent in those IDDM patients lacking the disease-predisposing class II alleles. Significantly more non-DR3/non-DR4 IDDM patients (47 of 55) possessed two of the IDDM-associated HLA-A alleles compared to non-DR3/non-DR4 control subjects (40 of 58; p=0.038). Moreover, IDDM patients confirmed by oligotyping as unable to form a ‘diabetes-susceptibility’ DQ heterodimer, tended to possess two diabetes-associated HLA-A alleles (12 of 13) compared to control subjects (12 of 20; p=0.056).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400951
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    A study of the nutrient foramina of lower limb long bones (1994)
    Springer
    Surgical and radiologic anatomy 16 (1994), S. 409-412 
    Details
    ISSN: 1279-8517
    Keywords: Nutrient foramina ; Bone ; Lower limb
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les foramens nourriciers de 269 os longs de membres inférieurs d'adultes ont été étudiés afin d'en préciser le nombre et le siège. L'index foraminal moyen était de 48,82 pour le fémur, 33,17 pour le tibia, 47,82 pour la fibula. Sur le fémur, les foramens sont le plus souvent doubles, situés au tiers moyen de la ligne âpre. Sur le tibia, le foramen est le plus souvent au tiers supérieur de la face postérieure. Enfin sur la fibula, il se situe en général au tiers moyen de face postérieure.
    Notes: Summary In this study a total of 269 adult lower limb long bones were examined to determine the number and location of the nutrient foramina in the shafts of bones. The mean of foraminal index was 48.82 for femur, 33.17 for tibia, and 47.82 for fibula. The number of foramina noted were: two on the linea aspera in the middle third of the femur, one on the posterior surface of the upper third of the tibia, and one on the posterior surface of the middle third of the fibula.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01627662
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    Electronic Resource
    Effects of magnesium deficiency on strength, mass, and composition of rat femur (1994)
    Springer
    Calcified tissue international 54 (1994), S. 44-49 
    Details
    ISSN: 1432-0827
    Keywords: Bone ; Stress ; Elasticity ; Mechanical properties ; Calcium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Magnesium (Mg) participates in the normal formation and remodeling of bone. However, little is known about effects of Mg status on the biomechanical function of bone. We examined gross morphometry and composition as well as biomechanical properties of the femurs of male rats fed diets adequate or deficient in Mg. Comparison of deficient animals and controls yielded a number of differences (all significant at P〈0.05). Mg-depleted animals exhibited slow growth, inefficient food utilization, and greatly reduced concentrations of Mg in both serum and femur ash. Compared with controls, femurs from depleted animals were shorter, but wet weights, diameters, and midfemoral cross-sectional areas showed no differences. Bone length was reduced to a greater degree than could be accounted for by differences in body weights between the groups. Bones of Mg-deficient rats contained less dry matter and less ash (which contained more Ca/g) than those of controls, along with a higher percentage of moisture. Significantly reduced bone strength in depleted animals was evident from the lighter loads supported at the elastic limit (yield point) and at fracture and from decreased stresses accompanying those loads. Modulus of elasticity, however, was not affected by Mg depletion. Different yield and breaking loads were related to different body weights of groups, but stresses were reduced for deficient bones even after adjusting for body size. Our data establish abnormal biomechanical behavior of cortical bone in Mg-deficient animals and emphasize the importance of measuring such functional properties of bone in the assessment of responses to altered metabolic conditions under experimental conditions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00316289
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  • 65
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    Electronic Resource
    Broadband ultrasonic attenuation imaging: A new imaging technique of the os calcis (1994)
    Springer
    Calcified tissue international 54 (1994), S. 83-86 
    Details
    ISSN: 1432-0827
    Keywords: Ultrasound attenuation ; Bone ; Osteoporosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Ultrasound transmission measurement through the os calcis is an emerging technique and a promising clinical tool for early assessment of osteoporosis. However, several previous studies showed that broadband ultrasonic attenuation (BUA) is sensitive to small variations in bone mass or structure. The os calcis is an inhomogeneous bone and therefore, the attenuation depends on the location in the os calcis. BUA distribution within the os calcis can be measured by rectilinear scanning over the entire bone. We used a mechanical scanning device with both unfocused and focused transducers. The spatial resolution of these was about 25 mm and 4 mm, respectively. There was good agreement (r=0.97) between the results with unfocused and focused transducers. In addition, imaging the variations of BUA is possible with the focused transducers, and high quality images are obtained. These images permit the selection of optimal regions of interest for ultrasound attenuation measurement.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296055
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  • 66
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    Electronic Resource
    Age-dependence of bone material quality shown by the measurement of frequency of resonance in the ulna (1994)
    Springer
    Calcified tissue international 54 (1994), S. 96-100 
    Details
    ISSN: 1432-0827
    Keywords: Bone ; Material quality ; Sound transmission ; Frequency of resonance ; Age ; Bone width
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract In women before and after the age of peak bone mass, identical values of bone mineral density (BMD) can be obtained. However, there is a much higher incidence of osteoporotic fractures in older women. We investigated whether a deterioration of bone material quality with increasing age might contribute to this phenomenon. Material properties of bone tissue can be characterized by the modulus of elasticity, which is correlated to the square of sound transmission velocity. In this study, sound transmission velocity was determined in cortical bone by measuring the frequency of resonance in the ulna in the direction of the bone's longitudinal axis and correcting the values by multiplying by ulna length. Validation of this method indicated acceptable reproducibility: interobserver variability determined as the mean coefficient of variation was 1.82%. In a clinical study, 21 young women (22.5±1.2 years old) were compared with 21 middle-aged women (52.9±2.7 years old). Pairs were matched that had identical values of BMD in the nondominant forearm at a location representing mainly cortical bone (SPA). The product of ulna length and frequency of resonance in the ulna in the younger women was found to be 61.4±5.8 m/second, and in the middle-aged women 55.7±4.5 m/second. The difference was highly significant with P〈0.005. Our results confirm recent findings indicating a deterioration of bone material quality independent of BMD with increasing age. As shown by comparing ulna width at the site of measurement of bone mineral density between both groups of women, the deterioration of bone material quality in ulnar cortical bone with increasing age might at least in part be functionally compensated by an increase of the moment of inertia due to greater bone width [8, 10].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296058
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  • 67
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    Electronic Resource
    Helodermin, helospectin, and PACAP stimulate cyclic AMP formation in intact bone, isolated osteoblasts, and osteoblastic cell lines (1994)
    Springer
    Calcified tissue international 54 (1994), S. 284-289 
    Details
    ISSN: 1432-0827
    Keywords: Helodermin ; Bone ; Cyclic AMP
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Helodermin and helospectin are peptides structurally similar to vasoactive intestinal polypeptide (VIP) which were recently isolated from the salivary gland venom of the lizard Heloderma suspectum. Pituitary adenylate cyclaseactivating polypeptide (PACAP) has been isolated from ovine hypothalamus and also shows sequence homology to VIP. A helodermin-like peptide has been detected by combined immunohistochemical and immunochemical techniques in the thyroid C-cells. In the present study, lizard helodermin was found to cause a time- and dose-dependent stimulation of cyclic AMP (cAMP) formation in neonatal mouse calvarial bones. Also, helospectin I, PACAP 27, and the C-terminally extended PACAP 38 stimulated cAMP accumulation in the mouse calvariae. The cAMP rise in response to helodermin was comparable to that induced by VIP, both in terms of potency and magnitude of the response. Helodermin, helospectin I, PACAP 27, and PACAP 38, at concentrations of 1 μmol/liter, stimulated cAMP accumulation in enzymatically isolated mouse calvarial bone cells. A significant response to all peptides was observed in both early and late released bone cells isolated from the calvariae, with low and high alkaline phosphatase activity, respectively. Helodermin and VIP stimulated cAMP accumulation in the cloned mouse calvarial osteoblastic cell line MC3T3-E1, in rat (UMR 106-01), and human (Saos-2) osteoblastic osteosarcoma cell lines, but not in the rat osteosarcoma cell line ROS 17/2.8. The effect of helodermin was synergistically and dose-dependently enhanced by forskolin (0.1 and 1 μmol/liter). These data show that bone cells, including osteoblasts, respond to several peptides of the VIP family, including helodermin, helospectin I, PACAP 27, and PACAP 38. Whether the responses are mediated via one or several receptor populations remains to be established. The finding that VIP and helodermin, at maximally effective concentrations, did not cause additive effect on cAMP formation in intact mouse calvariae suggests that these two agonists may use a common receptor.
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    URL: http://dx.doi.org/10.1007/BF00295952
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  • 68
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    Electronic Resource
    Human recombinant interleukin-1 receptor antagonist blocks bone resorption induced by interleukin-1β but not interleukin-1α (1994)
    Springer
    Calcified tissue international 55 (1994), S. 12-15 
    Details
    ISSN: 1432-0827
    Keywords: IL-1α ; IL-1β ; IL-1 receptor antagonist ; Bone ; Calcium ; Parathyroid hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Both interleukin-1α (IL-1α) and interleukin-1β (IL-1β) are powerful stimulators of bone resorption in vivo and in vitro. Interleukin-1 receptor antagonist (IL-1ra) binds to many interleukin-1 receptors. It does not activate the receptor and effectively blocks the action of IL-1α and IL-1β. In this study, human recombinant IL-1ra, at 100-fold excess, was found to block bone resorption in cultured mouse calvaria due to IL-1β but not IL-1α. These observations may be explained by differential affinities of receptors for IL-1α, IL-1β and rhIL-1ra on target bone cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310162
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  • 69
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    Electronic Resource
    Combined magnetic fields increased net calcium flux in bone cells (1994)
    Springer
    Calcified tissue international 55 (1994), S. 376-380 
    Details
    ISSN: 1432-0827
    Keywords: Electromagnetic ; Bone ; Calcium ; Osteoblast
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Low energy electromagnetic fields (EMF) exhibit a large number of biological effects. A major issue to be determined is “What is the lowest threshold of detection in which cells can respond to an EMF?” In these studies we demonstrate that a low-amplitude combined magnetic field (CMF) which induces a maximum potential gradient of 10-5 V/m is capable of increasing net calcium flux in human osteoblast-like cells. The increase in net calcium flux was frequency dependent, with a peak in the 15.3–16.3 Hz range with an apparent bandwidth of approximately 1 Hz. A model that characterizes the thermal noise limit indicates that nonspherical cell shape, resonant type dynamics, and signal averaging may all play a role in the transduction of lowamplitude EMF effects in biological systems.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00299318
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  • 70
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    Electronic Resource
    Contribution of collagen and mineral to the elastic anisotropy of bone (1994)
    Springer
    Calcified tissue international 55 (1994), S. 381-386 
    Details
    ISSN: 1432-0827
    Keywords: Acoustic microscopy ; Bone ; Collagen fiber ; Elastic anisotropy ; Mineral crystal
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract It has long been thought that collagen fibers within the bone matrix are deposited in an aligned pattern that channels mineral growth. If this model of bone structure is correct, both organic and inorganic phases of bone should have similar elastic anisotropy. Using an acoustic microscope, we measured longitudinal and transverse acoustic velocities of cortical specimens taken from 10 dog femurs before and after removal of either the mineral (using 10% EDTA) or collagen phases (using 7% sodium hypochlorite) and calculated longitudinal (CL) and transverse (CT) elastic coefficients. The anisotropy ratio (CL/CT) decreased significantly after demineralization (1.61 before versus 1.06 after, P〈0.0001, paired t-test). However, there was no significant change after decollagenization (1.51 before versus 1.48 after, P=0.617, paired t-test). We conclude that the orientation of mineral crystals is the primary determinant of bone anisotropy, and the collagen matrix within osteonal bone has little directional orientation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00299319
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  • 71
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    Magnesium distribution in human bone (1994)
    Springer
    Calcified tissue international 54 (1994), S. 34-37 
    Details
    ISSN: 1432-0827
    Keywords: Magnesium ; Bone ; Aging ; Human
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract The present study was undertaken to reveal the magnesium distribution in human bone. Sixty human ribs, obtained from subjects aged 10–80 years of age, were used. Transverse sections were prepared from the middle region of the human ribs. Adjacent sections were ground to a thickness of about 1000 μm. One section was used for magnesium determination by atomic absorption spectrophotometry, and the other was used for analysis with X-ray microanalysis. Thirty micron thick samples were abraded continuously from the periosteal and the endosteal surfaces by abrasive microsampling, as previously described by Weatherell et al. [3]. Results showed that magnesium concentrations were higher in both the periosteal and endosteal surfaces and did not change with age in general, although it tended to be higher among teenagers and lower over 80 years old.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00316287
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  • 72
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    Antiresorptive drugs and trabecular bone turnover: Validation and testing of a computer model (1994)
    Springer
    Calcified tissue international 54 (1994), S. 179-185 
    Details
    ISSN: 1432-0827
    Keywords: Bone ; Drugs ; Trabecular ; Turnover ; Computer ; Model ; Sensitivity ; Activation frequency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract A computer model of trabecular bone turnover has been developed, based on concepts of Jonathan Reeve [1]. This model predicts changes in bone volume by summing bone resorption and formation over a large number of remodeling sites. Clinical data [histomorphometry and bone mineral content (BMC)] from two clinical studies using an antiresorptive drug (etidronate disodium, EHDP) in post-menopausal osteoporosis were used to test the model. The results for BMC obtained from the EHDP and placebo groups in each study at 60 and 120 weeks were correctly predicted by the model from the histomorphometric data obtained from baseline and week 60 biopsies. The parameter in this model having the greatest influence on predicted changes in bone volume was found by sensitivity analysis to be activation frequency. These results suggest that the contribution of bone turnover to BMC can be predicted solely by considering the cell kinetics of the basic multicellular unit (BMU), and that, in the case of antiresorptive drugs, maximal effects on bone volume may be achieved by pharmacological reduction of activation frequency. The results also suggest that the present model may be useful in predicting in clinical studies the effects of EHDP and similar drugs on bone turnover.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00301675
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  • 73
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    Electronic Resource
    Intact serum parathyroid hormone levels increase during running exercise in well-trained men (1994)
    Springer
    Calcified tissue international 54 (1994), S. 256-261 
    Details
    ISSN: 1432-0827
    Keywords: Calcium ; Lactate ; Acidosis ; Treadmill ; Bone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract The purpose of this study was to examine the influence of exercise on the serum concentrations of intact parathyroid hormone (PTH). Serum PTH and plasma lactate were measured in 15 well-trained men, 9 long-distance runners and 6 fire-fighters, during two running exercises. Test one consisted of 40-minute treadmill running with a stepwise increased load and test two consisted of 50-minute treadmill running with a constant velocity. When the load was step-wise increased, the PTH concentrations increased moderately at the slower running paces but reached a final value that was about 50% higher than the starting value. This rise occurred despite a concomitant increase of total serum calcium from 2.38±0.06 to 2.49±0.05 mmol/liter (P〈0.01). During the constant running exercise, the long-distance runners, but not the fire-fighters, displayed a significant increase in PTH concentrations although the rise in total serum calcium was similar in both groups. There was a weak correlation between the changes in PTH and lactate in both exercises. The findings demonstrate that both high and low intensity exercise enhance release of PTH in long-distance runners through a mechanism that does not involve serum calcium. This relationship might be of importance for bone mass in men performing long-distance training.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295947
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  • 74
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    Electronic Resource
    Lower extremity stress fractures during intermittent cyclical etidronate treatment for osteoporosis (1994)
    Springer
    Calcified tissue international 54 (1994), S. 431-434 
    Details
    ISSN: 1432-0827
    Keywords: Bone ; Diphosphonate ; Osteoporosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract During intermittent cyclical etidronate treatment, a lower extremity pain syndrome associated with stress fractures was observed in three osteoporotic patients. This report describes the development of stress fractures during initial cycles of treatment, with recurrence of symptoms in two patients when etidronate therapy was resumed. Further studies are needed to confirm whether stress fractures are associated with cyclic etidronate treatment and if so, the incidence and pathophysiology need to be determined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00305532
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  • 75
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    The modulatory effect of endogenous parathyroid hormone on the action of hydrochlorothiazide in pseudohypoparathyroidism type I (1994)
    Springer
    Calcified tissue international 54 (1994), S. 473-476 
    Details
    ISSN: 1432-0827
    Keywords: Pseudohypoparathyroidism ; Thiazide ; Kidney ; Bone ; Parathyroid hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract We compared the effect of orally administered 100 mg of hydrochlorothiazide (HCTZ) among eight patients with pseudohypoparathyroidism (PHP) type I, 11 patients with idiopathic hypoparathyroidism (IHP), and 12 patients with primary hyperparathyroidism (1oHPT). Patients with PHP type I or with IHP were studied during the treatment with 1α-hydroxylated metabolites of vitamin D3. HCTZ raised serum levels of calcium (Ca) in 1oHPT (P〈0.001) and PHP type I (P〈0.01) but did not increase urinary excretion of Ca. Serum parathyroid hormone (PTH) in PHP type I decreased (P〈0.02) after HCTZ administration in response to the increase in serum Ca. HCTZ did not raise serum levels of Ca in IHP but increased urinary excretion of Ca in this group (P〈0.01). HCTZ suppressed tubular reabsorption of phosphate (P) in IHP (P〈0.01) and 1oHPT (P〈0.05) but not in PHP type I. Urinary excretion of cAMP did not change after HCTZ administration in PHP type I, IHP, or 1oHPT. Endogenous PTH modulated the effects of HCTZ on Ca mobilization from bone and renal reabsorption of Ca in PHP type I with normal or high serum levels of PTH and in 1oHPT with high serum levels of PTH. The inhibitory effect of HCTZ on renal tubular reabsorption of P (probably from proximal tubules) was independent of PTH. The resistance to this inhibitory effect of HCTZ on P reabsorption in PHP type I suggested a proximal tubular dysfunction in this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00334326
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  • 76
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    Electronic Resource
    Selective extractability of noncollagenous proteins from chicken bone (1994)
    Springer
    Calcified tissue international 55 (1994), S. 230-235 
    Details
    ISSN: 1432-0827
    Keywords: Noncollagenous ; Proteins ; Bone ; Sialo-protein ; Osteopontin ; Osteocalcin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Quantitative analyses of a wide variety of different solvents used for the extraction of several of the noncollagenous proteins of fully mineralized chicken bone powder were carried out to compare both the effectiveness of various procedures and the distribution of specific proteins which were solubilized. Extraction procedures included solutions of 6 M guanidine-HCl, pH 7.0, 0.5 M EDTA, pH 7.4, 0.3 N citric acid, 0.3 N HCl, 0.3 N formic acid, and 0.3 N acetic acid. Chelation of calcium ions by EDTA and dissolution of the mineral phase by acid extraction released 95% or more of the total calcium content of the bone powder by 48 hours, guanidine-HCl released less than 20% or less of the total calcium content even when extraction was carried out by 168 hours. Moreover, although guanidine-HCl solubilized a significant amount of collagen as gelatin, essentially none of the phosphoproteins, osteocalcin, or the proteoglycan decorin were solubilized, as detected by immunological techniques. In contrast, extraction of the mineralized bone powder by HCl and formic acid was very efficient in selectively solubilizing osteocalcin and osteopontin, while bone sialoprotein was selectively released by EDTA, and solubilized to a lesser extent by formic acid. Similarly, EDTA selectively removed decorin compared with HCl, formic, acetic, or citric acids. Only small amounts of osteopontin and osteocalcin were detected in the acetic acid extracts. These results provide methods for the selective solubilization of several different major, noncollagenous proteins from mineralized bone which should significantly aid in maximizing the amount of the specific protein recovered, and the ease with which the various proteins can be purified. The data also provide some insight into the intrinsic solubility characteristics of collaten, the specific noncollagenous proteins, and their potential association with each other and the mineral phase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00425880
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  • 77
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    Electronic Resource
    Effects of infusion of parathyroid hormone and primary hyperparathyroidism on formation and breakdown of type I collagen (1994)
    Springer
    Calcified tissue international 55 (1994), S. 412-416 
    Details
    ISSN: 1432-0827
    Keywords: Bone ; Biochemical markers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract The influence of chronic and acute exposure to parathyroid hormone (PTH) on formation and breakdown of type I collagen, using two recently developed radioimmunoassays for serum PICP (the carboxyterminal propeptide of type I procollagen) and serum ICTP (the carboxyterminal telopeptide of type I collagen), have been evaluated. Fasting morning values were obtained from 18 women with primary hyperparathyroidism (HPT) and an equal number of age-matched, healthy controls. A 24-hour infusion of synthetic human parathyroid hormone (PTH 1-38) was performed in 14 healthy females. The patients with HPT had higher values for serum ICTP than the controls (6.0±3.0 and 4.1±2.1 μg/liter; P〈0.05), whereas the serum PICP concentrations were not different (170±72 and 151±65 μg/liter; n.s.). During infusion of PTH in healthy subjects, there was an increase of the serum ICTP concentrations (from 3.6±1.3 to 4.4±1.8 μg/liter; P〈0.001) whereas those of serum PICP decreased (from 185±78 to 118±42 μg/liter; P≤0.0001). The increase of serum ICTP during infusion of PTH was positively related to the increase of serum calcium and other indices of bone resorption, i.e., fasting urinary excretions of hydroxyproline and calcium. The decrease of serum PICP was also related to the changes of serum ICTP and hydroxyproline in urine, serum calcium, and alkaline phosphatase but not to osteocalcin, an established marker of osteoblastic activity. The findings support the fact that serum ICTP is a valuable method for evaluating bone resorption and is also easy to perform. Furthermore, the discordant results for the different markers of osteoblastic activity indicat that they reflect different functions of the cell.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00298553
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  • 78
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    Electronic Resource
    Dietary variation in arctic foxes (Alopex lagopus)-an analysis of stable carbon isotopes (1994)
    Springer
    Oecologia 99 (1994), S. 226-232 
    Details
    ISSN: 1432-1939
    Keywords: Carbon isotopes ; Arctic fox ; Diet ; Bone ; Collagen
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We used stable carbon isotopes to analyse individual variation in arctic fox diet. We extracted collagen from bones (the lower jaw), and measured stable carbon isotopes. The foxes came from three different localities: Iceland, where both microtines and reindeer are rare; west Greenland, where microtines are absent; and Sweden, where scat analyses showed the primary food to be microtine rodents and reindeer. The Icelandic samples included foxes from both coastal and inland habitats, the Swedish sample came from an inland area, and the Greenland sample from coastal sites. The spatial variation in the isotopic pattern followed a basic division between marine and terrestrial sources of protein. Arctic foxes from inland sites had δ13C values of −21.4 (Iceland) and −20.4‰ (Sweden), showing typical terrestrial values. Coastal foxes from Greenland had typical marine values of −14.9‰, whereas coastal foxes from Iceland had intermediate values of −17.7‰. However, there was individual variation within each sample, probably caused by habitat heterogeneity and territoriality among foxes. The variation on a larger scale was related to the availability of different food items. These results were in accordance with other dietary analyses based on scat analyses. This is the first time that stable isotopes have been used to reveal individual dietary patterns. Our study also indicated that isotopic values can be used on a global scale.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00627734
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  • 79
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    Electronic Resource
    Familial occurrence of discrete subaortic membrane (1994)
    Springer
    Pediatric cardiology 15 (1994), S. 198-200 
    Details
    ISSN: 1432-1971
    Keywords: Subaortic stenosis ; Congenital heart disease ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The first case of multiple family members with discrete subaortic membrane and no other congenital defects is presented. One family member presents with findings suggesting a forme fruste of this disease. Increased surveillance of family members of individuals with discrete subaortic membrane is warranted, as the clinical findings of mild subaortic obstruction may be indistinguishable from those of an innocent flow murmur.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00800675
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  • 80
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    Electronic Resource
    Tricuspid atresia and annular hypoplasia: Report of a familial occurrence (1994)
    Springer
    Pediatric cardiology 15 (1994), S. 201-203 
    Details
    ISSN: 1432-1971
    Keywords: Tricuspid atresia ; Tricuspid hypoplasia ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Occurrence of a similar cardiac malformation in multiple family members has been reported for many lesions. Neither tricuspid atresia nor tricuspid annular hypoplasia and tricuspid atresia and one case of tricuspid annular hypoplasia with an atrial septal defect in siblings. The findings in this family suggest an autosomal recessive pattern of inheritance for abnormal tricuspid valve morphogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00800676
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  • 81
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    Electronic Resource
    Genetic analysis of a polyembryonic mutant in rye (1994)
    Springer
    Sexual plant reproduction 7 (1994), S. 290-296 
    Details
    ISSN: 1432-2145
    Keywords: Secale cereale ; Polyembryony ; Chromosome mosaics ; Rye ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We have obtained one plant regenerated from rye tissue culture which showed a high percentage of polyembryonic seeds in its progeny. The mutation inducing the development of extra embryos is also influencing erroneous cell division, mitosis and meiosis. The genetic analysis indicated that the aptitude for polyembryonic seed formation is a heritable trait controlled by a dominant gene. However, for expression of the phenotype the female parent should have a specific cytoplasm.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00227712
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  • 82
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    Présentation de la série du GECO de métastases osseuses des membres : 90 cas (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 21-21 
    Details
    ISSN: 1432-1068
    Keywords: Metastases ; Bone ; Métastases osseuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Dans cette série de cas, vus par des chirurgiens, une métastase sur deux est traitée au stade de fracture. Une fracture sur deux est survenue en l'absence de toute symptomatologie évocatrice.
    Notes: Abstract This series of surgical patients shows that 50% of bony metastases are complicated by a fracture. Of these, 50% occurred without any preceding symptoms or signs.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806724
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  • 83
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    Ostéolyse tumorale maligne métastatique Données actuelles sur la physiopathologie et le traitement (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 5-8 
    Details
    ISSN: 1432-1068
    Keywords: Bone ; Metastases ; Osteoclast ; Cytokines ; Métastases osseuses ; Ostéoclaste ; Cytokines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les métastases ostéolytiques des cancers sont à l'origine de douleurs et de fractures pathologiques responsables d'une importante invalidité altérant la qualité de survie des patients. Ces destructions osseuses sont dues à une augmentation de la résorption osseuse, liée à la stimulation des ostéoclastes par des médiateurs sécrétés localement par les cellules tumorales et médullaires. Les bisphosphonates, puissants agents anti-ostéoclastiques, ont une bonne efficacité sur les douleurs osseuses, la prévention des fractures et des épisodes hypercalcémiques.
    Notes: Abstract Osteolytic metastases are the cause of pain and pathological fractures with marked disability affecting the patient's quality of life. The bone destruction is due to an increase of bone resorption, linked to stimulation of osteoclasts by mediators secreted locally by tumour and medullary cells. Bisphosphonates, strong anti-osteoclastic agents, are effective for bone pain, prevention of fractures and the treatment of hypercalcaemic episodes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806718
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  • 84
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    Electronic Resource
    Absence epilepsy of early childhood —genetic aspects (1994)
    Springer
    European journal of pediatrics 153 (1994), S. 372-377 
    Details
    ISSN: 1432-1076
    Keywords: Epilepsy ; Absences ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Clinical and EEG family data of 140 cases with early childhood epilepsy with absences are presented. The aim of the study was to evaluate, whether the occurrence of generalized tonic clonic seizures (GTCS) as a presenting symptom might correlate with family data, i.e. whether there are indications of heterogeneity. One hundred and forty cases were selected from the epilepsy family data base of the Neuropaediatric Department. The selection parameter was epilepsy with absences manifesting between the 1 st and 5th year of age. The incidence of seizures was evaluated in siblings, parents and parents' siblings. EEG records were available from 103 parents and 106 siblings. The analysis supports the assumption of heterogeneity within early childhood absence epilepsy. Parents and their sibs of cases manifesting with GTCS had seizures twice as often than parents and their sibs in the non-GTCS group. In the affected relatives of the GTCS group early onset GTCS prevailed, whereas in the relatives of the non-GTCS group absences were found more frequently. The EEG of relatives showed elevated incidences of spikes and waves and photosensitivity in both groups, indicating common genetic factors. In parents of the non-GTCS group, however, EEG pathology was significantly more frequent than in parents of the GTCS group. Comparing EEG pathology in parents with seizure risk in siblings, evidence for maternal preponderance in transmission of the seizure liability was found. Mothers' EEG seems to be the best predictor of the seizure risk in probands' siblings. Early childhood epilepsy with absences can be regarded as an intermediate type, showing overlap with early onset GTCS and myoclonic astatic epilepsy on the one side and with childhood absence epilepsy on the other.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01956423
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  • 85
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    Electronic Resource
    Evolution du traitement des métastases osseuses (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 3-4 
    Details
    ISSN: 1432-1068
    Keywords: Metastases ; Bone ; Métastases osseuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Le traitement des métastases osseuses a vu ses modalités évoluer en fonction d'améliorations obtenues dans la prise en charge du cancer primitif et en raison d'une meilleure compréhension des phénomènes biologiques constatés au niveau de l'os métastatique. Du simple traitement palliatif des douleurs osseuses, la thérapeutique s'est orientée vers la prévention des complications dégradantes que sont les fractures et les paraplégies. Des résultats intéressants sont obtenus actuellement par l'utilisation de traitements chimiques luttant contre l'ostéolyse métastatique.
    Notes: Abstract The treatment of bony metastases has developed due to improvements in the care of the primary cancer and due to a better understanding of the biological phenomenon in the metastasis. From simple palliative treatment of bone pain, treatment is now being directed towards the prevention of the complications of metastasis, such as fractures and paraplegia. Interesting results are currently being obtained by using chemotherapy for treatment of metastatic osteolysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806717
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  • 86
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    Electronic Resource
    Evolution des conceptions en matière de radiothérapie des métastases osseuses (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 11-12 
    Details
    ISSN: 1432-1068
    Keywords: Radiotherapy ; Metastases ; Bone ; Radiothérapie ; Métastases osseuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Les techniques d'irradiation antalgique sont différentes s'il s'agit de métastases uniques (champs séparés) ou multiples (irradiation hémicorporelle antalgique). Un procédé original d'irradiation hémicorporelle précoce est décrit.
    Notes: Abstract Irradiation for bone pain depends on whether the metastasis is solitary (separate field) or disseminated (antalgic half body irradiation). A new original procedure of early halfbody irradiation is described.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806720
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  • 87
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    Métastases osseuses d'origine thyroïdienne (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 13-15 
    Details
    ISSN: 1432-1068
    Keywords: Thyroid ; Bone ; Metastases ; Métastases osseuses ; Thyroïde
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé En 25 ans, 1061 cancers de la thyroïde ont été pris en charge. 42 patients étaient atteints de métastases osseuses, unique ou multiples. La forme histologique la moins métastasiante est le cancer papillaire qui de plus, survient chez les sujets jeunes. Deux stades doivent être différentiés dans la maladie métastasiante. La métastase osseuse, unique, est découverte à la scintigraphie, les radiographies sont normales, l'irradiation à l'iode éventuellement associée au cobalt peut la stériliser. La métastase osseuse est visible sur les radiographies, elle n'est pas unique, la scintigraphie objectivera d'autres foyers hyperfixants, le traitement chirurgical, palliatif, aura pour effet de réduire la taille tumorale pour que l'irradiation puisse la stériliser ainsi que les autres foyers fixants.
    Notes: Abstract Over 25 years, 1601 thyroid cancers were treated. 42 patients had solitary or multiple bony metastases. The least metastatic histological form is papillary cancer, which in addition occurs in young subjects. There are two stages of the metastatic disease. The solitary bony metastasis, discovered on scintigraphy with normal Xrays, may be effectively treated by irradiation with iodine with the possible addition of cobalt. Multiple metastases, visible on plain X-ray with other hyperfixation areas on scintigraphy, is best treated by palliative surgery to reduce size so that it can be sterilised by irradiation at the same time as other hyperfixation sites.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806721
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  • 88
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    Aspects actuels de la prise en charge des métastases osseuses en milieu oncologique (1994)
    Springer
    European journal of orthopaedic surgery & traumatology 4 (1994), S. 9-10 
    Details
    ISSN: 1432-1068
    Keywords: Metastases ; Bone ; Métastases osseuses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé L'histo-pronostic, comme l'utilisation de marqueurs, sont des notions relativement nouvelles qui facilitent la prise en charge de certains cancers. Hormonothérapie et chimiothérapie doivent être discutées en fonction de leurs avantages et de leurs inconvénients. Toutes les ressources modernes contre la douleur doivent être utilisées.
    Notes: Abstract The histological prognosis and use of markers are new concepts, which are of value in managing some cancers. Hormonal therapy and chemotherapy should be considered, along with their advantages and disadvantages. All contemporary modalities of treatment against pain should be used.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01806719
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  • 89
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    Electronic Resource
    Multiple sclerosis: genetic versus environmental aetiology: epidemiology in Israel updated (1994)
    Springer
    Journal of neurology 241 (1994), S. 341-346 
    Details
    ISSN: 1432-1459
    Keywords: Multiple sclerosis Epidemiology ; Immigrants Environment ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The incidence and prevalence of multiple sclerosis (MS) were compared, controlling for age, in native-born Israelis of different origins and in immigrants to Israel. This comparison was carried out in two populations, countrywide and in Jerusalem. In the countrywide population, ascertainment was based mainly on hospitalizations; it included 252 patients who were native-born and 150 who had immigrated from Africa-Asia (AA immigrants). The 89 MS patients of Jerusalem also included patients diagnosed in outpatient clinics. In native-born Israelis whose father was born in Europe-America (I-EA), the incidence and prevalence of MS were found to be as high as or even higher than that found previously in immigrants from Europe-America. Among native-born Israelis whose father was born in Africa or Asia (I-AA), the yearly age-adjusted incidence and prevalence rates were found to be 1.4- to 1.8-fold higher than among AA immigrants, pointing to environmental factors. The incidence and prevalence rates in the I-EA were 1.2- to 1.6-fold higher than in the I-AA, pointing to genetic factors. These results seem to point to both environmental and genetic factors in the aetiology of MS. Further research is needed, however, to disentangle the genetic factors from possible environmental differences in the two ethnic groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00868444
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  • 90
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    Electronic Resource
    Cystic angiomatosis of bone with sclerotic changes mimicking osteoblastic metastases (1994)
    Springer
    Skeletal radiology 23 (1994), S. 247-252 
    Details
    ISSN: 1432-2161
    Keywords: Cystic angiomatosis ; Hemangiomatosis ; Lymphangiomatosis ; Osteosclerosis ; Bone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Five unusual cases of cystic angiomatosis of bone which presented with the radiologic appearance of osteoblastic lesions are reported. Three patients were female (ages 37, 41, and 65 years) and two were male (ages 24 and 66 years). Although cystic angiomatosis of bone usually produces widespread osteolytic lesions with a honeycombed appearance in the skeletal system, multiple osteoblastic lesions mimicking metastatic osteoblastic carcinoma are sometimes seen. This radiological presentation has not been well emphasized in previous reports. Histologically, in addition to the angiomatous lesions, both mature thickened lamellar bone trabeculae and immature trabeculae of woven bone were found. In one of our patients, increasing density of the osteoblastic lesions was noted over time. One previous study has suggested that the age of the lesions of cystic angiomatosis is related to radiographic density. It is important to recognize this uncommon variant of cystic angiomatosis and to include this entity among the radiologic differential diagnoses when multiple osteoblastic lesions are encountered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02412356
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  • 91
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    Electronic Resource
    Follow-up and family study of postpartum psychoses (1994)
    Springer
    European archives of psychiatry and clinical neuroscience 244 (1994), S. 138-140 
    Details
    ISSN: 1433-8491
    Keywords: Parity ; Genetics ; Diathesis-stress model
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract As part of a follow-up and family study of post-partum psychoses, this episode of illness being the first leading to psychiatric hospitalisation, patients with puerperal episodes (PE) and nonpuerperal episodes (NPE) of illness in the long-term course (n=79) were compared to patients with PE only (n=40). Few differences were found. Relatives of patients with PE only had a lower morbidity risk for functional psychoses than relatives of patients with PE and NPE. A favourable course of illness in the presence of a low genetic predisposition may be expected, according to the diathesis-stress model of functional psychoses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02191888
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  • 92
    Electronic Resource
    Electronic Resource
    Clinical and genetic aspects of juvenile absence epilepsy (1994)
    Springer
    Journal of neurology 241 (1994), S. 487-491 
    Details
    ISSN: 1432-1459
    Keywords: Juvenile absence epilepsy ; Valproate ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Fifteen patients aged 11–25 years (mean 15.37, SD 3.89) suffering from juvenile absence epilepsy are presented. Only 3 (20%) had absences (AS) as the only seizure type, 12 (80%) had associated generalized tonic-clinic seizures (GTCS) and in the remaining 3 with absences and GTCS there was also sporadic myoclonus. We found a higher frequency of AS in our patients by clinical history and video-EEG than has been previously reported. In our patients the mean age of onset in years was 11.4, SD 1.24 for AS, 13.12, SD 2.31 for GTCS and 12.5, SD 2.18 for myoclonus. The correct diagnosis was not made on referrals for any of the patients. It took an average of 3–5.5 years from the onset of the AS (range: 6–120 months) and 2 years from the occurrence of GTCS (average: 1–72 months) to make the correct diagnosis and institute proper treatment, which was valproic acid (VPA). The GTCS were controlled in all patients whereas AS continued in 6 (40%), but to a significantly lesser degree. The frequency and the duration of the GTCS before the start of VPA treatment seemed to have an adverse effect on AS control. We documented no circadian rhythm in either AS or the GTCS, except in 2 patients who had AS and GTCS mainly when they awoke in the morning. The sample size was too small to perform a proper genetic study, though a positive history of epilepsies of mixed types was obtained in 35.7% of the parents and the siblings of the probands.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00919710
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  • 93
    Electronic Resource
    Electronic Resource
    Molecular marker-facilitated studies in an elite maize population: I. Linkage analysis and determination of QTL for morphological traits (1994)
    Springer
    Theoretical and applied genetics 88 (1994), S. 7-16 
    Details
    ISSN: 1432-2242
    Keywords: Maize ; Restriction fragment length polymorphisms (RFLPs) ; Qualitative and quantitative inheritance ; Plant breeding ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Restriction fragment length polymorphisms (RFLPs) and one morphological marker were used to investigate quantitative trait loci (QTL) for morphological and physiological traits evaluated on 150 F2∶3 maize (Zea mays L.) lines derived from the cross of elite U.S. Corn Belt inbreds Mo17 and H99. F2∶3 lines were grown in a replicated experiment and evaluated for plant and ear heights and flowering traits. QTL were identified for each trait, and genetic effects were determined. Estimated gene action for the flowering traits was predominantly overdominance. Both parents contributed toward increased values for anthesis and silk emergence. QTL for increased plant and ear heights were usually contributed by the taller parent, Mo17. Estimated gene action for these traits was mainly partial to overdominance. QTL for plant height were located in the vicinity of loci defined by alleles with qualitative effects on plant height.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00222387
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  • 94
    Electronic Resource
    Electronic Resource
    Chromosome assortment in Saccharum (1994)
    Springer
    Theoretical and applied genetics 89 (1994), S. 959-963 
    Details
    ISSN: 1432-2242
    Keywords: Sugarcane ; Polyploidy ; Genetics ; Evolution ; Breeding ; DNA markers ; Arbitrarily primed PCR ; RAPD markers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Recent work has revealed random chromosome pairing and assortment in Saccharum spontaneum L., the most widely distributed, and morphologically and cytologically variable of the species of Saccharum. This conclusion was based on the analysis of a segregating population from across between S. spontaneum ‘SES 208’ and a spontaneously-doubled haploid of itself, derived from anther culture. To determine whether polysomic inheritance is common in Saccharum and whether it is observed in a typical biparental cross, we studied chromosome pairing and assortment in 44 progeny of a cross between euploid, meiotically regular, 2n=80 forms of Saccharum officinarum ‘LA Purple’ and Saccharum robustum ‘ Mol 5829’. Papuan 2n=80 forms of S. robustum have been suggested as the immediate progenitor species for cultivated sugarcane (S. officinarum). A total of 738 loci in LA Purple and 720 loci in Mol 5829 were amplified and typed in the progeny by arbitrarily primed PCR using 45 primers. Fifty and 33 single-dose polymorphisms were identified in the S. officinarum and S. robustum genomes, respectively (χ 2 at 98%). Linkage analysis of single-dose polymorphisms in both genomes revealed linkages in repulsion and coupling phases. In the S. officinarum genome, a map hypothesis gave 7 linkage groups with 17 linked and 33 unlinked markers. Four of 13 pairwise linkages were in repulsion phase and 9 were in coupling phase. In the S. robustum genome, a map hypothesis gave 5 linkage groups, defined by 12 markers, with 21 markers unlinked, and 2 of 9 pairwise linkages were in repulsion phase. Therefore, complete polysomic inheritance was not observed in either species, suggesting that chromosomal behavior is different from that observed by linkage analysis of over 500 markers in the S. spontaneum map. Implications of this finding for evolution and breeding are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00224524
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  • 95
    Electronic Resource
    Electronic Resource
    Genetic analysis of tolerance for phosphorous deficiency in rice (Oryza sativa L.) (1994)
    Springer
    Theoretical and applied genetics 89 (1994), S. 313-317 
    Details
    ISSN: 1432-2242
    Keywords: Genetics ; Rice ; Phosphorousefficiency ; Diallel analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The inheritance of phosphorous (P) — deficiency tolerance in rice was investigated by a sevenparent diallel. The parent materials involved were four P-efficient (IR20, IR54, IR28, and Mahsuri), one moderately P-efficient (TN1), and two P-inefficient (IR31406333-1 and IR34686-179-1-2-1), genotypes. Relative tilering ability (RTA) under P-deficient and P-supplemented soil conditions was the parameter used in determining the tolerance level of the different genotypes. Diallel graph analysis revealed that tolerant parents have an excess of recessive genes, while moderate and susceptible parents possess more dominant genes. Genetic-component analysis suggested that both additive and dominance gene effects are involved in the inheritance of P-deficiency tolerance in rice. The trait exhibited over doiminance as confirmed by the graphical analysis. Narrow-sense heritability of the trait was moderate (0.50) and environmental effects were low. Both the general combining ability (GCA) and the specific combining ability (SCA) were significant, but GCA was more prevalent than SCA. Tolerant parents exhibited a high GCA whereas susceptibles have a very poor GCA, suggesting that tolerant parents were mostly enriched in additive genes and susceptible parents in non-additive genes. Crosses involving two high general combiners showed low SCA effects whereas crosses between poor general combiners manifested highly-significant SCA values.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00225160
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  • 96
    Electronic Resource
    Electronic Resource
    Resistance to potato leaf roll virus multiplication in potato is under major gene control (1994)
    Springer
    Theoretical and applied genetics 88 (1994), S. 754-758 
    Details
    ISSN: 1432-2242
    Keywords: Potato breeding ; Potato leaf roll virus ; Virus resistance ; Major gene resistance ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The concentration of potato leaf roll virus (PLRV), as measured by a quantitative enzyme-linked immunosorbent assay, in the foliage of potato plants (Solanum tuberosum) of cv ‘Maris Piper’ with secondary infection was 2900 ng/g leaf, whereas in clones G7445(1) and G7032(5) it was 180 ng/g leaf and 120 ng/g leaf, respectively. To examine the genetic control of resistance to PLRV multiplication, reciprocal crosses were made between the susceptible cultivar ‘Maris Piper’ and the two resistant clones, and the three parents were selfed. Seedling progenies of these families were grown to generate tubers of individual genotypes (clones). Clonally propagated plants were graft-inoculated, and their daughter tubers were collected and used to grow plants with secondary infection in which PLRV concentration was estimated. The expression of resistance to PLRV multiplication had a bimodal distribution in progenies from crosses between ‘Maris Piper’ and either resistant clone, and also in progeny from selfing the resistant parents, with genotypes segregating into high and low virus titre groups. Only the progeny obtained from selfing ‘Maris Piper’ did not segregate, all genotypes being susceptible to PLRV multiplication. The pattern of segregation obtained from these progenies fits more closely with the genetical hypothesis that resistance to PLRV multiplication is controlled by two unlinked dominant complementary genes, both of which are required for resistance, than with the simpler hypothesis that resistance is conferred by a single dominant gene, as published previously.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01253981
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  • 97
    Electronic Resource
    Electronic Resource
    Molecular-marker-facilitated investigation of host-plant response to Exserohilum turcicum in maize (Zea mays L.): components of resistance (1994)
    Springer
    Theoretical and applied genetics 88 (1994), S. 305-313 
    Details
    ISSN: 1432-2242
    Keywords: Breeding ; Helminthosporium turcicum ; RFLP ; QTLs ; Disease-resistance ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract RFLPs were used to investigate components of host-plant response to Exserohilum turcicum in 150 unselected F2∶3 lines of a B52/Mo17 maize population. Following inoculation with spore suspensions of the pathogen (race 0), components of disease development were measured and then quantitative trait mapping was performed to identify the location and effects of quantitative trait loci (QTLs) determining host-plant response. Components of interest were the average number of lesions per leaf, the average percent leaf tissue diseased (severity) and the average size of lesions (cm2). Based on a LOD threshold of 2.31 (P〈0.05), the number of lesions appears to be associated with QTLs on chromosomes 1S, 3L, 5S. Severity was associated with analogous regions and, in addition, QTLs on chromosomes 7L and 8L. Most QTLs, for either of these two components, involve additive gene action and partial dominance or overdominance. In contrast, lesion size was associated with QTLs on chromosomes 7L and 5L; recessive gene action may be involved at 7L.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223637
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  • 98
    Electronic Resource
    Electronic Resource
    A linkage map of diploid Avena based on RFLP loci and a locus conferring resistance to nine isolates of Puccinia coronata var. ‘avenae’ (1994)
    Springer
    Theoretical and applied genetics 89 (1994), S. 831-837 
    Details
    ISSN: 1432-2242
    Keywords: Genetics ; Disease resistance ; Monocots
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract An F2 oat population was produced by crossing the diploid (n=7) species Avena strigosa (CI 3815) with A. wiestii (CI 1994), resistant and susceptible, respectively, to 40 isolates of Puccinia coronata, the causal agent of crown rust. Eighty-eight F2 individuals were used to construct an RFLP linkage map representing the A genome of cultivated hexaploid oat. Two hundred and eight RFLP loci have been placed into 10 linkage groups. This map covers 2416 cM, with an average of 12 cM between RFLP loci. Eighty-eight F3 lines, derived from F2 individuals used to construct the map, were screened for resistance to 9 isolates of P. coronata. One locus, Pca, was found to confer a dominant resistance phenotype to isolates 203, 258, 263, 264B, 290, 298, 325A, and 345. Pca also conferred resistance to isolate 276; however, an unlinked second gene may also be involved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00224505
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  • 99
    Electronic Resource
    Electronic Resource
    Behavioral and life-history components of division of labor in honey bees (Apis mellifera L.) (1994)
    Springer
    Behavioral ecology and sociobiology 34 (1994), S. 117-409 
    Details
    ISSN: 1432-0762
    Keywords: Social insects ; Apis mellifera ; Division of labor ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Variability exists among worker honey bees for components of division of labor. These components are of two types, those that affect foraging behavior and those that affect life-history characteristics of workers. Variable foraging behavior components are: the probability that foraging workers collect (1) pollen only; (2) nectar only; and (3) pollen and nectar on the same trip. Life history components are: (1) the age the workers initiate foraging behavior; (2) the length of the foraging life of a worker; and (3) worker length of life. We show how these components may interact to change the social organization of honey bee colonies and the lifetime foraging productivity of individual workers. Selection acting on foraging behavior components may result in changes in the proportion of workers collecting pollen and nectar. Selection acting on life-history components may affect the size of the foraging population and the distribution of workers between within nest and foraging activities. We suggest that these components define possible sociogenic “pathways” through which colony-level natural selection can change social organization. These pathways may be analogous to developmental pathways in the morphogenesis of individual organisms because small changes in behavioral or life history components of individual workers may lead to major changes in the organizational structure of colonies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00167332
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  • 100
    Electronic Resource
    Electronic Resource
    Reproductive competition in queenless honey bee colonies (Apis mellifera L.) (1994)
    Springer
    Behavioral ecology and sociobiology 35 (1994), S. 99-107 
    Details
    ISSN: 1432-0762
    Keywords: Key words Apis mellifera ; Genetics ; Drone production ; Allozymes ; Reproductive conflict
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Previously we reported that there are subfamily differences in drone production in queenless honey bee colonies, but these biases are not always explained by subfamily differences in oviposition behavior. Here we determine whether these puzzling results are best explained by either inadequate sampling of the laying worker population or reproductive conflict among workers resulting in differential treatment of eggs and larvae. Using colonies composed of workers from electrophoretically distinct subfamilies, we collected samples of adult bees engaged in the following behavior: “true” egg laying, “false” egg laying, indeterminate egg laying, egg cannibalism, or nursing (contact with larvae). We also collected samples of drone brood at four different ages: 0 to 2.5-h-old eggs, 0 to 24-h-old eggs, 3 to 8-day-old larvae, and 9 to 14-day-old larvae and pupae. Allozyme analyses revealed significant subfamily differences in the likelihood of exhibiting egg laying, egg cannibalism, and nursing behavior, as well as significant subfamily differences in drone production. There were no subfamily differences among the different types of laying workers collected from each colony, suggesting that discrepancies between subfamily biases in egg-laying behavior and drone production are not due to inadequate sampling of the laying worker population. Subfamily biases in drone brood production within a colony changed significantly with brood age. Laying workers had significantly more developed ovaries than either egg cannibals or nurses, establishing a physiological correlate for the observed behavioral genetic differences. These results suggest there is reproductive conflict among subfamilies and individuals within queenless colonies of honey bees. The implications of these results for the evolution of reproductive conflict, in both queenright and queenless contexts, are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002650050075
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