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Biomedical subjects

E Katzuni

Publications and source records attributed to E Katzuni.

23 records · Page 2Linked to original sources
PubMed1981

Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.

A large Arab family affected with the rare X-linked Lesch-Nyhan syndrome is reported on. Two hemizygous boys, two and nine years of age, had the classical biochemical and clinical-neurological syndrome. The activity of erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) was below the detectable limit (greater than 0.1% of normal). They were mentally and physically retarded and exhibited spasticity and choreoathetosis; the older of the two also exhibited self-mutilation. The mother and three of her seven daughters, all clinically asymptomatic, were proven to be heterozygous for HGPRT deficiency, by demonstration of an increased rate of de novo purine synthesis in cultured skin fibroblasts. Erythrocyte HGPRT activity was normal in the three heterozygous daughters, but was significantly reduced in the mother. However, in all four heterozygotes, erythrocyte HGPRT/adenine phosphoribosyltransferase ratio was lower than in all other family members. All heterozygotes had blood uric acid levels within the normal range, although higher than in the normal women in the family. The ratio uric acid/creatinine concentration in the urine was significantly elevated in one of the heterozygotes, and in the upper normal limit in two others, indicating excessive purine production.

Adolescent↗
PubMed1979

Normalized thyroxine as a screening test for hypothyroidism in full-term and preterm newborn babies.

Thyroid function was assessed in full-term and preterm newborn babies by serum thyroxine (T4), normalized thyroxine (T4N) and thyroid-stimulating hormone (TSH) assays. At age 24 h, there was a significant difference in T4 and TSH values between the full-term and preterm groups; no such difference was found in the T4N values. By 21 days of age, the TSH values were still significantly higher in full-term babies compared with preterm ones, but the T4 values were similar. The T4, T4N and TSH values at 24 h in preterm newborns with respiratory distress syndrome were similar to those in normal preterm babies, and the changes in these values with age had no consistent pattern. In preterm babies with low 24-h T4 and T4N values, these two parameters increased with age, reaching normal adult values by 21 days. We concluded that T4N could serve as a useful thyroid function test in the newborn.

Female↗