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  • 1
    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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  • 2
    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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    Paper (German National Licenses)
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  • 3
    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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  • 4
    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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  • 5
    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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  • 6
    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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  • 7
    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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  • 8
    Electronic Resource
    Electronic Resource
    Frequency of very late fatal sepsis after splenectomy for hereditary spherocytosis: impact of insufficient antibody response to pneumococcal infection (1999)
    Springer
    Annals of hematology 78 (1999), S. 524-528 
    Details
    ISSN: 1432-0584
    Keywords: Key words Hereditary spherocytosis ; Postsplenectomy ; Sepsis ; Overwhelming postsplenectomy infections ; Pneumococci
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Very late sepsis in splenectomized patients with hereditary spherocytosis has been seen rarely up to now; the frequency and the immunodeficiency causing it are largely unknown. Within the past 7 years we have learned of four cases of sepsis or meningitis (three fatal) in adult patients with hereditary spherocytosis who had been splenectomized years earlier. The estimated frequency of very late postsplenectomy infections is 0.69 cases of sepsis or meningitis in 1000 patient-years (0.46 deaths in 1000 patient-years). Pneumococci were proven in two patients. The surviving patient showed low antibody titers against pneumococcal serotypes even after pneumococcal meningitis and subsequent vaccination. There have been several reports of an insufficient response to pneumococcal vaccination in patients with severe infections. We recommend determination of pneumococcal antibody titers after immunization in every splenectomized patient: Nonresponders to vaccination may be at high risk for overwhelming postsplenectomy infection. Our data demonstrate that there is a lifelong risk for severe postsplenectomy infections and therefore the lasting need for immediate antibiotic therapy in any case with sudden onset of high fever.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002770050550
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  • 9
    Electronic Resource
    Electronic Resource
    G6PD Avenches and G6PD Moosburg: biochemical and erythrocyte membrane characterization (1989)
    Springer
    Annals of hematology 58 (1989), S. 11-14 
    Details
    ISSN: 1432-0584
    Keywords: Hemolytic anemia ; Enzyme deficiency ; Glucose-6-phosphate dehydrogenase ; Erythrocyte membrane
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two new G6PD variants with severe enzyme deficiency in Switzerland (G6PD Avenches, G6PD I) and in Germany (G6PD Moosburg, G6PD II) are described. One patient had suffered from severe postpartal hyperbilirubinemia, the other one presented with chronic hemolysis and remittent hyperbilirubinemia. Both variants showed diminished electrophoretic mobility, both variants were heat labile. The Michaelis-Menten constants KM for glucose-6-phosphate and for NADP+ were normal. 2-Desoxy-glucose-6-phosphate was utilized by G6PD I in a higher and by G6PD II at a lower rate than by the normal enzyme. Desamino-NADP+ and galactose-6-phosphate were utilized by both variants at a normal rate. The electrophoretic separation of membrane proteins of G6PD II showed both in the presence and in the absence of 6-mercaptoethanol no difference concerning the formation of membrane protein aggregates between patient and normal control.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00320229
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  • 10
    Electronic Resource
    Electronic Resource
    Glucose-6-phosphate dehydrogenase (G6PD) iserlohn and G6PD regensburg: Two new severe enzyme defects in german families (1985)
    Springer
    Annals of hematology 51 (1985), S. 109-115 
    Details
    ISSN: 1432-0584
    Keywords: Enzyme deficiency ; Glucose-6-phosphate dehydrogenase ; Hemolytic anemia ; Favism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two new inheritable variants of glucose-6-phosphate dehydrogenase have been found in two unrelated German families. Patients with one variant (G6PD Iserlohn, also referred to as G6PD I) suffered from intermittent hemolytic crises caused by fava beans; patients with the other variant (G6PD Regensburg, G6PD II) disclosed chronic nonspherocytic hemolytic anemia aggravated by drug treatment. Due to their unusual biochemical characteristics, the new variants were designated G6PD Iserlohn and G6PD Regensburg. Both variants showed a reduction of enzyme activity to about 6% of the normal in erythrocytes, normal electrophoretic mobility, increased affinity for glucose-6-phosphate, a reduced affinity for NADP and a pH optimum in the neutral region (7.0 and 7.5). G6PD Iserlohn had a decreased affinity for the inhibitor NADPH; G6PD Regensburg had a normal inhibitor constant. Deamino NADP was utilized at an increased rate by G6PD Regensburg. G6PD Iserlohn was thermostable, G6PD Regensburg mildly instable. G6PD activity in leukocytes was normal in G6PD Iserlohn and reduced to the same degree as in erythrocytets in G6PD Regensburg. The cause of the decreased activity of G6PD Iserlohn appears to be in vivo instability; in G6PD Regensburg further mechanisms might include reduced specific activity or reduced synthesis of the variant enzyme.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00320119
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