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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1053-1059 
    ISSN: 1432-1440
    Keywords: Glycogenosis ; Glycogenosis type V (McArdle) ; Vacuolar myopathy ; Recurrent rhabdomyolysis ; Glycogen storage ; Muscle phosphorylase deficiency ; Glykogenose ; Glykogenose Typ V (McArdle) ; Vacuoläre Myopathie ; Rezidivierende Rhabdomyolyse ; Glykogenspeicherung ; Muskelphosphorylasemangel
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über die myopathologischen und biochemischen Befunde von sechs Patienten mit Glykogenose Typ V (McArdle) berichtet. Morphologisch findet sich in vier Fällen das typische Substrat einer vacuolären Myopathie mit vorwiegend subsarkolemmaler Glykogenvermehrung. Eine Biopsie zeigt nur sehr diskrete Strukturveränderungen, welche ohne entsprechende biochemische Befunde keine sichere diagnostische Festlegung zuließen. In einer weiteren Biopsie stehen die Zeichen der abgelaufenen Rhabdomyolyse quantitativ ganz im Vordergrund und überlagern die Speichermyopathie. Biochemisch ist in allen Fällen ein erhöhter Glykogengehalt nachweisbar, welcher mehrheitlich zwischen 2,5–4,23% liegt, bzw. nur bei dem klinisch ausgeprägtesten Fall mit abgelaufener Rhabdomyolyse über 5% beträgt. In allen Fällen kann zusätzlich ein Fehlen bzw. eine hochgradige Verminderung der Phosphorylaseaktivität objektiviert werden. Abgesehen von dem besonders schwer verlaufenden Fall ist keine sichere Korrelation zwischen der Quantität der myopathologischen und biochemischen Befunde zu erkennen, was bedeutet, daß bei entsprechendem klinischen Beschwerdebild eine ergänzende biochemische Untersuchung des Muskels durchgeführt werden sollte, selbst wenn morphologisch nur diskrete Veränderungen zu erkennen sind.
    Notes: Summary This report deals with structural and biochemical studies of muscle biopsies from six patients with glycogenosis type V (McArdle). From a morphological point of view in four cases the typical findings of vacuolar myopathy with glycogen storage especially under the sarcolemma can be demonstrated. One biopsy shows only mild structural changes which without additional biochemical analysis could be overlooked. In one case signs of recovery phase after rhabdomyolysis predominate the storage myopathy. Biochemical studies in all cases show an elevated glycogen content (2.5–4.23%). Only the from a clinical point of view most expressive patient with recurrent episodes of rhabdomyolysis exhibits a glycogen storage over 5%. All cases additionally show an absence or highly reduction of phosphorylase activity. Apart from the most expressive clinical course the extent of morphological and biochemical findings is not clearly correlated. Therefore if clinical signs suggest the diagnosis of glycogenosis type V it appears necessary to perform additional biochemical examination of muscle biopsy independent from the degree of morphological anomalies.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1195-1199 
    ISSN: 1432-1440
    Keywords: Fallbericht ; Pseudohypoparathyreoidismus ; hypocalcämische Myopathie ; Case report ; Pseudohypoparathyroidism ; Hypocalcemic myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A patient with the clinical features of pseudohypoparathyreoidism and elevated concentrations of serum CK and LDH, which normalized after successful therapy, is described. Clinical signs of myopathy did not exist. The bioptical material from the m. tibialis anterior was microscopically normal. The biochemical analysis revealed a reduced phosphorylase-a-activity with the total phosphorylase-activity (a and b) being within the normal range. The significance of these findings as well as possible pathogenetic mechanisms are discussed.
    Notes: Zusammenfassung Es wird über einen Fall von Pseudohypoparathyreoidismus berichtet, bei dem gleichzeitig erhöhte CPK- und LDH-Konzentrationen im Serum festgestellt wurden, die sich nach Therapie normalisierten. Klinische Zeichen einer Myopathie bestanden nicht. Das Biopsiematerial vom m. tibialis anterior war mikroskopisch unauffällig. Biochemisch fand sich eine verminderte Phosphorylase-a-Aktivität bei normaler Gesamtphosphorylase-Aktivität (a und b). Die Bedeutung des Befundes und die möglichen pathogenetischen Mechanismen werden diskutiert.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Glycogenosis ; Granulocytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 283-288 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glycogen storage disease type Ib has all the clinical manifestations of glycogen storage disease type Ia such as hepatomegaly, growth retardation, bleeding tendency, hypoglycemia, hyperlactacidemia, hyperuricemia, hyperlipidemia, impaired platelet function plus neutropenia. The overall glucose-6-phosphatase activity in disrupted microsomes from liver is normal whereas glucose-6-phosphate translocase, the first enzyme in the glucose-6-phosphate transport system is absent. There is no glucose-6-phosphatase activity in vivo. Recent results show that in granulocytes the glucose-6-phosphate-dependent hexosemonophosphate-shunt is impaired.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 143 (1984), S. 7-9 
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type Ib ; Familial bleeding tendency ; Platelet dysfunction ; von Willebrand disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 135 (1981), S. 325-325 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 138 (1982), S. 280-282 
    ISSN: 1432-1076
    Keywords: Hypocalcemia ; Myopathy ; Hypoparathyroidism ; Creatine kinase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A girl with untreated idiopathic hypoparathyroidism presented with muscle weakness, depressed tendonreflexes and elevated serum creatine kinase. No morphological alterations of skeletal muscle or inhibition of muscle phosphorylase could be demonstrated. It is suggested that the myopathic symptoms may be due to functional changes of the muscle membrane during hypocalcemia.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Infection 12 (1984), S. 96-98 
    ISSN: 1439-0973
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der Bericht betrifft einen Knaben mit allen Symptomen einer klassischen und erweiterten Rötelnembryopathie, der 1982 von einer Mutter geboren wurde, die sieben Jahre früher mit dem Cendehill-Impfstoff erfolgreich gegen Röteln geimpft worden war. Die Diagnose wurde durch den Nachweis von rötelnspezifischen IgM-Antikörpern in vier IgM-Testarten und Persistenz der Röteln-HAH-und IgG-Antikörper in Blutproben, entnommen zwischen dem 3. und 8. Lebensmonat, sowie durch Nachweis von Rötelnvirus im Rachensekret, Urin und Lymphozyten gesichert. Das Kind verstarb im Alter von 8 1/2 Monaten. Der Fall wird in Relation zur Persistenz der durch Impfung induzierten Antikörper insbesondere auch zu dem Schutzwert der niederen Antikörpertiter gegenüber einer intrauterinen Infektion im Falle einer Reinfektion in der Schwangerschaft diskutiert.
    Notes: Summary This report concerns a boy with congenital rubella infection and features of the classical and expanded rubella syndrome who was born to a mother who had been successfully vaccinated with Cendehill vaccine seven years previously. The diagnosis of rubella embryopathy was confirmed by demonstrating rubella-specific serum IgM antibodies using four different methods, by the persistence of rubella HAI and IgG antibodies in serum taken between three and eight months of age and by the isolation of rubella virus from throat secretion, urine and blood mononuclear cells. The child died at eight-and-a-half months of age. This case is discussed in relation to the persistence of vaccine-induced immunity with particular respect to the protective quality of low levels of antibodies against intrauterine infection in the event of re-infection during pregnancy.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 4 (1981), S. 125-126 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The alkaline phosphatase activity in serum, leukocytes, amniotic fluid and cultured fibroblasts and amniotic fluid cells has been characterized by inhibition studies and by mini-electrophoresis.
    Type of Medium: Electronic Resource
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