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  • 1990-1994  (4)
  • Electron microscopic histochemistry  (1)
  • Glycogen storage disease  (1)
  • Glycogen storage disease Ib  (1)
  • Methylmalonic acidaemia  (1)
  • 1
    ISSN: 1432-0533
    Schlagwort(e): Mitochondrial myopathy ; Cytochrome c oxidase ; Mosaicism of mitochondria ; Electron microscopic histochemistry
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Electron microscopic histochemistry was applied to the study of cytochrome c oxidase activity in each mitochondrion of biopsied muscles from four patients with mitochondrial myopathy [one case of fatal infantile mitochondrial myopathy, one case of myoclonus epilepsy associated with ragged-red fibers (MERRF), and two cases of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)]. In the patient with fatal infantile mitochondrial myopathy, intercellular heterogeneity of mitochondria was recognized. In the three patients with either MERRF or MELAS, cytochrome c oxidase activity was segmentally changed from positive to negative within single muscle fibers. In the two patients with MELAS, small groups of positive-stained mitochondria were located among negative-stained mitochondria in the negative segment of a few muscle fibers. These findings revealed that there were heterogeneous populations of normal and abnormal mitochondria intracellularly or intercellularly within the muscles of these patients.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-1076
    Schlagwort(e): Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 149 (1990), S. 344-345 
    ISSN: 1432-1076
    Schlagwort(e): Glycogen storage disease Ib ; Secondary amyloidosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed neutropenia, neutrophil dysfunction and recurrent infections. Renal and thyroid biopsies showed secondary amyloidosis, characterized by the presence of potassium permanganate sensitive Dylon positive deposits in glomeruli, renal vessels and thyroid interstitium. Immunohistochemistry showed that the deposits were composed of amyloid A (AA) protein. Possibly neutrophil abnormalities are involved in the pathogenesis of amyloidosis.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 150 (1991), S. 852-853 
    ISSN: 1432-1076
    Schlagwort(e): Glycogen storage disease ; Pancreatitis ; Endoscopic retrograde cholangiopancreatography
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A case of chronic pancreatitis in an 8-year-old boy with glycogen storage disease type 1a (GSD 1a) is presented. This patient had a history of hyperlipidaemia unresponsive to dietary therapy, e.g., a carbohydraterich diet, uncooked cornstarch, and nocturnal intragastric tube feedings. He had recently suffered bouts of abdominal pain and diarrhoea. Serum amylase and trypsin were elevated, abdominal CT revealed the presence of a pseudocyst of the pancreas. The presence of chronic pancreatitis was confirmed by endoscopic retrograde cholangiopancreatography and an infected pseudocyst was removed at laparotomy.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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