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Biomedical subjects

I A Kaufman

Publications and source records attributed to I A Kaufman.

13 recordsLinked to original sources
PubMed1986

Intussusception.

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Child↗
PubMed1982

Lesch-Nyhan disease: clinical experience with nineteen patients.

The clinical phenotype in Lesch-Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had hyperuricemia, and the presence of 'orange sand' in the diaper was a prominent early complaint. All had self-mutilative behavior, of which the most characteristic form was biting the fingers or lips. All had the neurological syndrome of spasticity and choreoathetoid involuntary movements. All but one had less-than-normal intelligence.

Adolescent↗
PubMed1981

Renal pathogenesis of familial hyperuricemia: studies in two kindreds.

The pathogenesis of familial hyperuricemia has been investigated in two kindreds in whom hyperuricemia was present in members of successive generations. Enzymatic and metabolic studies, including the incorporation of isotopically labeled glycine into urinary uric acid and assessment of the total excretion of oxypurines in one family, excluded a metabolic etiology. No secondary cause of hyperuricemia was identified in either family. Fractional excretion of uric acid was less than 6.2% in all hyperuricemic individuals studied, while creatinine clearances were normal. Tubular secretion of uric acid and tubular reabsorption of uric acid were studied in an affected teenager from each family while receiving a purine-free diet. Inhibition of secretion of uric acid with pyrazinamide decreased fractional excretion of uric acid to 0.6% in patient S and to 0.7% in patient B. Tubular secretion of uric acid at maximal response to pyrazinamide in these patients was 0.393 and 0.410 mg/dl glomerular filtration rate(nl response 0.300 to 1.30 mg/min/100ml inulin clearance). Probenecid, an inhibitor of uric acid reabsorption, increased uric acid excretion by 3.9 mg/min and by 3.2 mg/min (nl response 1.7 +/- 0.3 mg/min) in patients S and B. Tubular reabsorption of uric acid distal to secretory sites was determined by assessing the uricosuric response to probenecid plus pyrazinamide. Uric acid excretion increased by only 0.08 mg/min in patient A and by 0.17 mg/min in patient B (nl response 0.9 mg/min). Ascorbic acid increased fractional excretion of uric acid by 7.2% in patient S but was not uricosuric in patient B or any hyperuricemic member of his family. These data suggest that hyperuricemia in these families is due to diminished renal clearance of uric acid and that the reduced clearance is due to increased tubular reabsorption of uric acid distal to secretory sites.

Adolescent↗
PubMed1977

Metabolism of adenine nucleotides in the cultured fetal mouse heart.

Intact beating fetal mouse hearts in organ culture were deprived of oxygen and glucose for up to 4 h, resulting in loss of beating, an 80% fall in ATP, reduction of energy charge from 0.85 to 0.48, and doubling of total nucleoside concentration. Radiolabeled adenine nucleotides were degraded to hypoxanthine and inosine, which were lost from the hearts into the medium during the deprivation period. Adenosine and adenine also appeared in the medium when adenosine deaminase was inhibited. After 24 h of O2 and glucose resupply, ATP returned to 60% of control, and energy charge rose to 0.76. Labeled nucleosides and bases remaining in the heart or exogenous labeled adenine were utilized to resynthesize ATP. [14C]glycine was rapidly taken up by recovering hearts but was not used for de novo adenine nucleotide synthesis. Ability to recover ATP and spontaneous contraction appear related to residual nucleotide and nucleoside content rather than to energy charge.

Adenine Nucleotides↗
PubMed1976

Overdosage with vincristine.

Five patients received overdoses of vincristine ranging from 3.5 to 32 mg. Neurotoxicity accounted for most of the complications observed. Peripheral neuropathies, cranial nerve palsies, paralytic ileus, atony of the bladder, hypertension, hypotension, seizures, inappropriate ADH secretion, and severe bone marrow depression were all encountered. Two patients died within 72 hours of the overdose. Another patient died of sepsis 22 days after the overdose. Two patients recovered and were discharged. The three patients who survived longer than a few days showed improvement in the vincristine-induced neuropathy, and the two long-term survivors had essentially complete recovery. It appears that if a patient can be supported through the critical period following an overdose, he can be expected to recover normal neurologic function.

Adolescent↗