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  • 1
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Surgical and radiologic anatomy 4 (1982), S. 15-18 
    ISSN: 1279-8517
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Conclusion L'ostéologie classique et la radiographie ont contribué beaucoup à figer l'idée selon laquelle le squelette est une structure indépendante primitive et fondamentale, non seulement pour la forme mais aussi pour la longueur du corps. En ce qui concerne les parties molles, les structures nerveuses comprises, on croit, comme de juste, que par leur longueur (c'est-à-dire par leur degré de la croissance longitudinale) elles s'accomodent à la longueur des os. L'analyse ici présentée autorise pourtant à la conclusion que la locution bien connue que ≪ l'organisme atteint le même âge que ses neurones ≫ s'applique aussi à la longueur de ses neurones. Au cours du développement, les masses squelettogènes en croissance s'accumulent, soit autour, soit le long des structures nerveuses, retardant, dans une certaine mesure, leur croissance à l'égard du squelette. Successivement les os se solidifient par ossification autour et le long des structures nerveuses en adaptant sans cesse leur forme et leur croissance. Ainsi les caractères morphologiques des os, conformes aux exigences fonctionnelles du milieu, sont déterminés par le développement nerveux. Pour en savoir plus sur le développement du squelette on devrait approfondir la croissance neurale plutôt que les fonctions neurales comme par exemple la fonction ≪ neurotrophique ≫. L'accroissement accéléré des os par la prolifération intensifiée des cellules squelettogéniques au cours des périodes dites critiques, à ce qu'il semble, provoque une vulnérabilité élevée des os à des situations défavorables en général dont, à ce qu'on suppose, résultent les déformations du squelette. Au cours d'une poussée aiguë du développement, toutefois, l'inter-relation ostéo-neurale devient critique car la croissance nerveuse devient incapable de s'adapter à la croissance osseuse. Une déformation des os représente en ce cas la seule solution possible.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 44 (1988), S. 169-171 
    ISSN: 1420-9071
    Keywords: Dysplastic naevus syndrome ; DNA-repair ; cancer genes ; familial malignant melanoma ; monoclonal antibodies specific for UV-dimers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Dysplastic naevus syndrome (DNS) is frequently observed in association with familial melanoma and xeroderma pigmentosum (XP), but the role of UV-light in the development of DNS has not been elucidated. Previous work has shown that UV-induced unscheduled DNA synthesis is associated with the early loss of antigenicity observed in immunoassays using a monoclonal antibody specific for thymine-thymine dimers. We now show that the rate of loss of antigenicity, which reflects the relative amount of bound antibody, observed during the first 60 min following 10 Jm−2 UVC irradiation is significantly reduced (p=0.02) in cultures of fibroblasts from 7 out of 8 DNS patients compared with the results from cells of a group of 30 healthy volunteers. This observation suggests an early event in excision repair is altered in the majority of DNS patients.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes mellitus ; diabetic nephropathy ; 5′ insulin gene polymorphism ; heredity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Recent data suggest genetic contributions to the microvascular complications of Type 1 (insulin-dependent) diabetes mellitus. Most research has focused on the HLA region, and the potential role of other genetic loci has not been adequately explored. We examined the possible relationship between DNA polymorphisms in the region 5′ to the insulin gene on chromosome 11 and diabetic nephropathy. This was done by comparison of those diabetic patients homozygous for class 1 alleles at the 5′ insulin gene polymorphism locus to 1/3 heterozygotes in a well-characterized series of 324 insulin-requiring diabetic patients from the Wisconsin Epidemiologic Study of Diabetic Retinopathy. Proteinuria (defined as ≥0.3 g protein/l urine), was used as suggestive evidence for diabetic nephropathy. Hypertension, a frequent associated finding in diabetic patients with nephropathy, was defined as a blood pressure greater than 140/90 or a history of previous treatment of hypertension. The two genotypically defined groups did not differ from each other in regard to sex ratio, age at diagnosis, age at examination, duration of diabetes, body mass, HbAlc or C-peptide. The 1/1 group had a higher prevalence of proteinuria, 29% as compared to 16.2 % in other genotypes (p〈0.05). There was no significant difference in the frequency of hypertension between the two genotypic groups. This finding suggests that the 5′ insulin gene polymorphism may be associated with risk for nephropathy, but the pathophysiologic mechanism remains unclear.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1440
    Keywords: Thyroid gland volume ; Breast feeding ; Formula feeding ; Iodine supplementation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The spontaneous development of thyroid gland volume (TGV) during the first 3 months of life was studied in entirely breast-fed infants (n = 21) and compared to those fed an iodine-supplemented formula (n = 19), an iodine-free formula (n = 5), or partially breast-fed in addition to an iodine-free (n = 4) or an iodine-supplemented formula (n =16). The TGV of the infants and their mothers was determined sonographically in addition to their urinary iodine concentrations 57 days postpartum and 3 months later. In ten additional lactating mothers the breast milk concentrations of thyroid hormones and iodine were determined. It was shown that at 3 months of age an infant consuming about 1000 ml breast milk per day receives about 2 μg thyroid hormones and 55 μg iodine per day. At the end of their first week of life the infants showed a TGV between 0.28 and 1.5 ml (median 0.61 ml) and a urinary iodine concentration between 0.03 and 16.3 μg/dl (median 3.0 μg/dl). At 3 months of age the TGV of the breast-fed infants had decreased by a median of 0.24 ml (= −34%; median of percentage changes) whereas those fed a formula without iodine had increased by a median of 0.26 ml (= + 50%; median of percentage changes). Those receiving an iodine-supplemented formula showed a TGV reduction of 0.14 ml (= +2%; median of percentage changes). The TGV development of the partially breast-fed infants lay between those being exclusively breast or formula fed. It is concluded that with respect to the development of TGV, breast milk is superior even to the feeding of an iodine-supplemented formula.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A candidate gene for hemochromatosis has recently been localized on the short arm of chromosome 6, about 4 megabases telomeric to the major histocompatibility complex. It encodes a protein that exhibits significant similarity to the HLA class I molecules and can be provisionally designated HLA-hc. Genotype analysis of 94 hemochromatosis patients living in France and a similar number of controls confirms that the disease is strongly associated with homozygosity at nucleotide 845 (72% of the patients and none of the controls carry two copies of the 845A variant). The data are consistent with hemochromatosis being a heterogeneous disease: about 79% of the cases in this sample would be caused by a defect in HLA-hc and 21% by an unrelated mechanism. A second variant (187 G) enriched on patient chromosomes that do not carry the 845A mutation might influence the affinity of a ligand for HLA-hc; the exact nature of this ligand remains to be discovered. The 845A variant is the best genetic marker for the disease identified to date, and the detection of 845A homozygosity should now permit diagnosis of a readily curable disease and the prevention of sometimes deadly complications in at least 72% of the patients.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Polymorphic (CTC)n and (TAAA)n sequences were identified in exons 1 and 8 of the myelin oligodendrocyte glycoprotein (MOG) gene. The different alleles were detected by a method combining fluorescence labeling of polymerase chain reaction (PCR) products and use of an automated DNA sequencer. Although only two alleles differing by the number of leucine residues encoded by the (CTC)n array were detected at the first locus, seven alleles were identified at the second. The high degree of polymorphism (75%) of the tetranucleotide repeat makes this marker informative for association or linkage studies with diseases such as hemochromatosis or multiple sclerosis.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  A Celtic origin for hemochromatosis, a common genetic iron metabolism disorder, has been postulated for a long time. To check whether the two mutations recently identified in the HLA-class I candidate gene for this disease were found only in Caucasians, we examined their frequencies in individuals originating from Algeria, Ethiopia, and Senegal. The presumably disease-causing mutation, responsible for the Cys282Tyr substitution, was not found in any member of these ethnic groups, although it was shown to be highly prevalent in populations of European ancestry. This geographic distribution supports the previously suggested Celtic origin for the disease. In contrast, the mutation responsible for the His63Asp substitution is not restricted to European populations. Although absent in the Senegalese, it was found on about 9% of the chromosomes of the Central Ethiopians and Algerians (Mzab) genotyped for this study. This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution. More detailed population studies are needed to provide information on the age of these two mutations and eventually show how the hemochromatosis-causing mutation chronologically spread throughout Europe.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Biology and fertility of soils 15 (1993), S. 165-173 
    ISSN: 1432-0789
    Keywords: Organic fertilization ; Lime ; Element concentrations ; Compost ; Microarthropods ; Lumbricidae ; Lumbricus rubellus ; Acari ; Collembola ; Soil acidification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Geosciences , Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Summary We tested the effects of two organic fertilizers (composts) and lime on the soil fauna of a spruce stand. One compost was obtained from chopped wood and the other from household garbage. At the time of distribution the pH of the control plots averaged 3.2, the garbage compost had a pH of 7.5, and the wood compost of 6.2. During the experimental period the pH of the compost layers decreased. The pH of the former litter layer beneath the composts showed a steep increase after 5 months, but beneath the treatment with wood compost this effect did no persist. Liming increased the pH only slightly in the litter layer. The two types of compost, the litter layer, and lumbricids (Lumbricus rubellus) were analyzed for concentrations of essential and potentially toxic elements. The element burden was highest in the garbage compost with 7- to 11-fold concentrations of Zn, Cd, Pb, Mg, and Cu compared to the needle litter. K, Ba, and Ca were 4 times more concentrated. L. rubellus showed an increased Cu concentration after extraction from the highly contaminated sites of garbage compost. Despite the differences in Pb contamination in the needle litter and in the two compost types, all investigated individuals of L. rubellus contained similar concentrations of Pb. In contrast to Pb, Cd accumulated in this lumbricid. Seasonal fluctuations of microarthropods, their total abundance, and differences in the colonization of the compost layers were observed. Collembola abundance was significantly increased in the garbage compost plots in July 91. There were generally more Prostigmata in the control and limed plots than in the compost plots. Oribatid numbers fell under all treatments compared to the controls. Mesostigmata were identified to species level and 33 species were found in the experimental areas. Certain species, such as Arctoseius cetratus and Uropoda minima, were only found in the treated sites.
    Type of Medium: Electronic Resource
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