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  • 1
    Electronic Resource
    Electronic Resource
    Genetic and morphological variation among biotypes of Tephritis bardanae
    Amsterdam : Elsevier
    Biochemical Systematics and Ecology 19 (1991), S. 549-557 
    Details
    ISSN: 0305-1978
    Keywords: Arctium ; Cardueae ; Diptera ; Tephritidae ; Tephritis bardanae ; allozymes ; behaviour ; biotypes ; morphology ; phytophagous insects
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0305-1978(91)90095-H
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  • 2
    Electronic Resource
    Electronic Resource
    Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation (1987)
    Springer
    Acta neuropathologica 74 (1987), S. 397-401 
    Details
    ISSN: 1432-0533
    Keywords: Fetal brain development ; Immunohistochemistry ; Intrauterine growth retardation ; Microcephaly ; Seckel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Marked intrauterine developmental retardation in a fetal case of Seckel syndrome was morphologically defined in the 29th week of gestation by comparing with a large number of length-matched and age-matched controls. Telencephalic micrencephaly with reduced neuroblast production, retarded functional differentiation of the pituitary gland, and generalized hypotrophy with craniofacial stigmata were observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687219
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  • 3
    Electronic Resource
    Electronic Resource
    Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency (1990)
    Springer
    Acta neuropathologica 79 (1990), S. 387-394 
    Details
    ISSN: 1432-0533
    Keywords: Triosephophosphate isomerase (TPI) ; Mitochondrial myopathy ; Muscle tissue ; Electron microscopy ; Enzyme histochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Morphological changes are shown in the muscle biopsy specimens of an 8-year-old girl who suffered from a triosephosphate isomerase (TPI) deficiency, resulting in a chronic, nonspherocytic, hemolytic anemia, mental retardation and neuromuscular impairment. The newly introduced enzyme histochemical reaction for TPI demonstrated a total lack of histochemically detectable enzyme activity, whereas biochemical analysis of muscle tissue revealed less than 10% of the normal enzyme activity. Electron microscopy showed a degenerative myopathy with an increase in the amount of intracellular glycogen. Additionally, mitochondrial changes within the muscle fibers were observed to be similar to those in mitochondrial myopathies. The disturbed balance between glycerinaldehyde phosphate and dihydroxy-acetone phosphate, due to the deficiency of the TPI enzyme, is interpreted as the biochemical background of an impaired electron transport across the mitochondrial membrane, resulting in the coexistence of an impaired glycolytic pathway and an impaired mitochondrial metabolism of muscle cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00308714
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  • 4
    Electronic Resource
    Electronic Resource
    Glucuronyl transferase deficiency and mild hereditary spherocytosis: effect of splenectomy (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 639-642 
    Details
    ISSN: 1432-1076
    Keywords: Chronic haemolytic anaemia ; Hereditary spherocytosis ; Spectrin deficiency ; UDP-Glucuronyl transferase deficiency ; Cholestasis ; Splenectomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 6-year-old girl an association of hereditary spherocytosis and a defect in hepatic bilirubin metabolism has been found. The patient suffered from mild compensated haemolytic anaemia and excessive hyperbilirubinaemia (maximum concentration 581 μmol/l), the serum activity of liver enzymes was slightly increased. Examination of the erythrocyte membrane proteins revealed a deficiency of the major membrane skeletal protein, spectrin (about 75% of normal) which is probably the basic genetic defect of hereditary spherocytosis. Examination of the patient's family revealed a recessive mode of inheritance. The concentration of bilirubin conjugates in the patient's serum was decreased due to a reduced UDP-glucuronyl transferase activity found in homogenates of liver tissue. Histological liver examination showed an intrahepatic cholestasis, which is a secondary and reversible alteration resulting from severe hyperbilirubinaemia. After splenectomy, normalization of the increased haemolysis and hepatic dysfunction was observed. The excessive hyperbilirubinaemia can be explained by the association of an increased bilirubin load due to haemolytic anaemia and the diminished hepatic conjugation of bilirubin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442481
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  • 5
    Electronic Resource
    Electronic Resource
    Triosephosphate isomerase deficiency: Haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 761-766 
    Details
    ISSN: 1432-1076
    Keywords: Haemolytic anaemia ; Mitochondrial myopathy ; Mental retardation ; Triosephosphate isomerase deficiency ; Enzyme catabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new triosephosphate isomerase (TPI) variant is described in an 8-year-old Turkish girl suffering from chronic haemolytic anaemia, myopathy and developmental retardation since early infancy. The enzyme activity profile revealed a generalized deficiency in erythrocytes, granulocytes, mononuclear blood cells, skeletal muscle tissue and cerebrospinal fluid. The concentration of enzyme substrate dihydroxyacetone phosphate was distinctly elevated. Biochemical examination showed accelerated enzyme deamidation, the first step in the normal catabolism of TPI during aging of the erythrocyte. The specific activity of the variant TPI, determined by antibody titration, was reduced to 61% of normal. Its heat stability was markedly decreased. Muscle biopsy and neuropsychological testing further clarified the pathogenesis of the disorder. A prevalent alteration of mitochondria similar to that seen in mitochondrial myopathy and an elevated amount of intracellular glycogen were found. The patient's retarded intellectual development was mainly due to impaired visual perception and sensory-motor co-ordination in addition to a lack of syllogistic reasoning. The findings indicate that the low TPI activity leads to a metabolic block of the glycolytic pathway and hence to a generalized impairment of cellular energy supply.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02026706
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  • 6
    Electronic Resource
    Electronic Resource
    Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg) (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 301-305 
    Details
    ISSN: 1432-1076
    Keywords: Glucosephosphate isomerase deficiency ; Congenital haemolytic anaemia ; Myopathy ; Impaired granulocyte functions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new glucosephosphate isomerase (GPI) variant is described which is characterised by very low specific activity in erythrocytes, granulocytes and muscle tissue, nearly normal stability, normal kinetic properties and a decreased electrophoretic mobility. The propositus suffers from a complex syndrome involving erythrocytes (congenital haemolytic anaemia), granulocytes (decreased production of superoxide anion and reduced bactericidal activity in vitro) and the neuromuscular system (myopathy, mental retardation). It is suggested that the clinical syndrome results from generalised GPI deficiency due to a decreased specific activity of the variant enzyme, which cannot be compensated by an increase of de-novo synthesis of GPI protein even in cells exhibiting active protein synthesis such as granulocytes and muscle cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441768
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  • 7
    Electronic Resource
    Electronic Resource
    Therapy-resistant haemarthros in a patient with factor VIII inhibitor: successful treatment with recombinant factor VIIa (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 951-952 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051253
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  • 8
    Electronic Resource
    Electronic Resource
    Short stature and failure of pubertal development in thalassaemia major: evidence for hypothalamic neurosecretory dysfunction of growth hormone secretion and defective pituitary gonadotropin secretion (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 777-783 
    Details
    ISSN: 1432-1076
    Keywords: Key words Thalassaemia major ; Growth hormone ; Neurosecretory dysfunction ; Androgen priming ; Gonadotropins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In patients with β-thalassaemia major, frequent blood transfusions combined with desferrioxamine chelation therapy lead to an improved rate of survival. Endocrine disorders related to secondary haemosiderosis such as short stature, delayed puberty and hypogonadism are major problems in both adolescent and adult patients. A total of 32 patients with β-thalassaemia major undergoing treatment at the Children's Hospital, University of Göttingen were examined. Fourteen of these were short in stature. Growth hormone (GH) secretion was investigated in 13 patients exhibiting either a short stature or reduced growth rate. The stimulated GH secretion of 10 patients in this subgroup lay within the normal range. Studies of their spontaneous GH secretion during the night revealed that these patients had a markedly reduced mean GH and reduced amplitudes in their GH peaks. Low insulin-like growth factor (IGF)-I levels were seen in the growth-retarded thalassaemic patients. Eight were subjected to an IGF generation test and showed a strong increase in both IGF-I and insulin-like growth factor binding protein (IGFBP)-3 levels indicating intact IGF-I generation by the liver. Hypogonadotropic hypogonadism was found to be present in both the male and female patients with impaired sexual development. After priming with LH-releasing hormone (GnRH) per pump in 2 female and 5 male patients, no change in either their serum oestradiol or testosterone levels or in LH/FSH response to GnRH was observed suggesting that they were suffering from a severe pituitary gonadotropin insufficiency. Three male patients at the age of puberty but exhibiting short stature, low GH, low IGF-I and hypogonadism received low dose long-acting testosterone. After 3–12 months of therapy there was a marked growth spurt, higher nocturnal GH levels and an increase in both IGF-I and IGFBP-3. Conclusion Reduced GH secretion and low IGF-I in thalassaemic patients are related to a neurosecretory dysfunction due to iron overload rather than to liver damage. Hypogonadotropic hypogonadism is caused by the selective loss of pituitary gonadotropin function. In patients with both GH deficiency and hypogonadism, low dose sexual steroid treatment should be considered either as an alternative or an additional treatment before starting GH therapy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050711
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  • 9
    Electronic Resource
    Electronic Resource
    A dispermic chimerism in a 2-year-old Caucasian boy (1999)
    Springer
    Annals of hematology 78 (1999), S. 431-434 
    Details
    ISSN: 1432-0584
    Keywords: Key words Dispermic chimerism ; DNA polymorphism ; True hermaphroditism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Detection of two different cell populations in a child is a rare event. The following case of a dispermic chimera was diagnosed before surgery due to problems in blood group determination. A 2-year-old phenotypically male child was admitted for correction of a penoscrotal hypospadia and unilateral cryptorchism. During presurgical laboratory investigation, difficulties in blood group determination occurred. Blood group typing was performed by the DiaMed-ID Micro Typing System and by FACS. Additionally, cytogenetic analysis of lymphocytes and analysis of DNA polymorphisms in different tissues were performed. Two populations of red blood cells were detected, 0 cells accounting for 75% and B cells for 25%. Analysis of DNA-PCR polymorphisms in lymphocytes, nails, and in cells of the oral mucous membrane demonstrated a chimerism, with two alleles inherited from the father and one from the mother. A cytogenetic analysis of cultured lymphocytes showed a mosaic 46,XY/46,XX. Surgery revealed a prostatic utricle grade III, also called pseudovagina; genitography confirmed a vagina. Bilateral gonad biopsy showed a testis on one side and an ovary on the other. This case of chimerism represents a true hermaphroditism that most probably developed by double fertilization of one or more egg nuclei by two sperms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050543
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  • 10
    Electronic Resource
    Electronic Resource
    Absence of phosphorylation-induced gelation of erythrocyte membrane skeletons: A diagnostic tool for hereditary spherocytosis (1992)
    Springer
    Annals of hematology 64 (1992), S. 93-96 
    Details
    ISSN: 1432-0584
    Keywords: Hemolytic anemia ; Hereditary spherocytosis ; Erythrocyte membrane skeleton
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary As yet there is no single test specific for the diagnosis of hereditary spherocytosis. In the search for a specific test, a method described by Pinder et al. [14] using a cAMP-independent protein kinase extracted from normal erythrocyte membranes was used. Membrane skeletons were prepared from erythrocyte ghosts by extraction with a non-ionic detergent, i.e., Triton X-100. Upon phosphorylation with c-AMP-independent protein kinase the suspension of normal membrane skeletons set to a gelatinous mass. Membrane skeletons from patients with spherocytosis failed to show this phenomenon. In order to clarify whether this phenomenological difference can be used as a diagnostic tool for hereditary spherocytosis, a semiquantitative method of observing the gelation process was used under definite shear stress conditions. We investigated 33 patients with different hemolytic anemias (spherocytosis, hereditary elliptocytosis, hereditary stomatocytosis, homozygous β-thalassemia and enzymopenic hemolytic anemias). With the exception of spherocytosis, all preparations of membrane skeletons showed gelation after 30–50 min. Spherocytosis membrane skeletons did not show a significant gelation even after 12 h of incubation. Thus, the failing gelation is specific for the diagnosis of hereditary spherocytosis. The “gelation assay” might be a valuable method for defining patients with hemolytic anemias due to erythrocyte membrane defects. Its molecular basis and the possible importance for the pathogenesis of spherocytosis require further investigations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01715352
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