PubMed Health⌕ Search

Biomedical subjects

T De Barsy

Publications and source records attributed to T De Barsy.

11 recordsLinked to original sources
PubMed1981

Clinical and biochemical findings before and after portacaval shunt in a girl with type Ib glycogen storage disease.

A girl presented with an important growth retardation, hepatomegaly, fasting hypoglycemia, lactic acidosis, increased serum cholesterol, triglycerides and uric acid, and increased liver glycogen (7.5%). There was no rise in blood glucose after IV galactose or fructose, but glucagon gave a delayed response. Type Ib glycogen storage disease was suggested by the low normal activity of glucose-6-phosphatase (G-6-Pase) which reached 1.8 units/g (normal, 2 to 10 units/g) and the normal activity of other glycogenolytic enzymes, measured in homogenates prepared in H2O (mean +/- S.E. in control subjects: 59% +/- 7; in type Ia GSD: 92% +/- 3). The activity of G-6-Pase measured as described above increased to 3.8 units/g of liver 1 year after PCS and 7.85 units/g of liver after 3 years. At that time, a simultaneous assay of the enzyme in a fresh, previously not frozen liver biopsy, homogenized in 0.25 M sucrose, revealed only about 29% of the activity of the same sample prepared in H2O (mean +/- S.E. in three controls: 95.8% +/- 8.9.

Adolescent↗
PubMed1979

[Familial cardiomyopathy: a study of two families with myocardial and skeletal muscle biopsies].

Cardiomyopathy was diagnosed in several members of two families. This familial cardiomyopathy showed symmetrical or asymmetrical hypertrophy of the ventricular walls with or without obstruction to the left ventricular outflow tract. Certain forms were asymptomatic and were revealed by the family history and echocardiography. Myocardial and intercostal muscle biopsy was performed for a biochemical and ultrastructural analysis. Different myocardial features were observed in the two families: a large increase in the glycogen deposits in the one, without clinical signs of a glycogen storage disease, and intracellular deposits of a filamentous protein substance in the other.

Cardiomyopathies↗
PubMed1976

Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype.

Pathological and biochemical data are reported on a 4(4)/12-year-old male patient with a severe myopathic disorder, hepatomegaly, recurrent pulmonary infections ending fatally. Combined morphological and enzymatic studies on muscle biopsy led to the diagnosis of acid maltase deficiency (Type II glycogenosis). On post mortem examination, lysosomal glycogen storage is found in skeletal muscles and liver, while heart and central nervous sytem are spared. Both hydrolytic and transferase activities of acid maltase are absent in cultured fibroblasts, heart, liver and postmortem skeletal muscles. That in the biopsied skeletal muscle only, the transferase activity alone is deficient while the hydrolytic function is maintained at low normal levels correlates well with the abnormal structure of the glycogen stored in that muscle. However, these findings on biopsied muscle cannot be reconciled with the absence of both functions and the presence of normal glycogen in other biopsied tissues or in postmortem specimens from the same patient.

Cartilage↗