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Biomedical subjects

J Passwell

Publications and source records attributed to J Passwell.

34 records · Page 2Linked to original sources
PubMed1981

Amyloidosis in children with familial Mediterranean fever.

The clinical and laboratory findings of 35 children with familial Mediterranean fever who developed amyloidosis are described. The types, frequency, and severity of attacks of familial Mediterranean fever in these children were no different from patients with this disease without amyloidosis. Although amyloid was widely deposited in all tissues, the major clinical manifestations of the amyloidosis were proteinuria, the nephrotic syndrome, and progressive renal failure. Only 20% of the patients were alive 5 years after the first appearance of proteinuria.

Adolescent↗
PubMed1979

Enzyme replacement in Tay-Sachs disease.

Enzyme replacement therapy was attempted with two Tay-Sachs-diseased individuals--a 14-month-old child and a 7-week-old infant. Treatment consisted of repeated weekly intrathecal injections of pure hexosaminidase A. Injection of this enzyme resulted in almost complete disappearance of GM2 from the serum, but did not bring about dissolution of the GM2 membranous cytoplasmic bodies in the brain, as detected by electronmicroscopy. Both patients tolerated the treatment without apparent clinical complications, but no clear-cut improvement was noted as a result of prolonged injections of hexosaminidase A. Since this treatment was initiated in both an advanced stage and a very early stage of the disease, we conclude that enzyme replacement treatment by this route is not beneficial for patients with Tay-Sachs disease.

Biopsy↗
PubMed1977

The metabolic effects of excess noradrenaline secretion from a pheochromocytoma.

We report a 14-year-old boy with severe hypertension who was cured by surgical removal of a pheochromocytoma. The tumor was shown biochemically and morphologically to secrete predominantly noradrenaline. The metabolic effects noted in this patient were raised free fatty acid levels and depressed insulin levels, hyperreninemia, hypercalcemia, and hypercalciuria with normal parathyroid function. All these abnormalities returned to normal after removal of the tumor. It is suggested that these effects were mediated via beta-adrenergic stimulation of the excess noradrenaline.

Adolescent↗
PubMed1977

Heterogeneity of Wilson's disease in Israel.

In a survey in Israel of 50 patients with Wilson's disease, it was found that this disease occurred in all ethnic groups. In the Arab patients there was a significantly early age of onset and the disease followed a more severe course than that in the Jewish patients. The overall sex ratio of patients was nearly 1:1, and genetic analysis of 20 families confirmed an autosomal recessive mode of inheritance. The very similar age of onset and type of disease within sibships and the varying ages of onset noted between the Arab and Jewish patients suggest that the disease is genetically heterogeneous.

Adolescent↗
PubMed1976

Fatal disseminated BCG infection. An investigation of the immunodeficiency.

A 2-year-old boy had a fatal disseminated BCG infection. Immunologic assessment showed a normal humoral response and normal numbers of E rosettes, normal thymus weight and histological features, but an abnormal response of lymphocytes in vitro and negative skin tests. Histological examination showed the presence of Gram-negative acid-fast bacilli within the macrophages. The possible mechanisms of immunodeficiency in this patient are discussed.

Animals↗
PubMed1976

Immunologic studies in phenylketonuria.

Significantly reduced immunoglobulins were found in 22 patients with phenylketonuria. Tests of cellular immune function which included delayed skin hypersensitivity, T rosettes and PHA transformation were normal. Escherichia coli antibodies and the booster response to tetanus toxoid were also normal.

Adolescent↗
PubMed1976

Abnormal renal functions in cyanotic congential heart disease.

Children with cyanotic congenital heart disease had a decreased glomerular filtration rate (71-8 +/- 18-9 ml/min per 1-73 m2) measured by endogenous creatinine clearances, compared with children who had had complete corrective surgery, children with noncyanotic heart disease, and normal children. There was a significant correlation between low glomerular filtration rate and haematocrit values above 50%. Daily urinary sodium excretion was reduced in the cyanotic patients.

Child↗