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N Beratis

Publications and source records attributed to N Beratis.

6 recordsLinked to original sources
PubMed1977

Prenatal diagnosis of renal anomalies.

Within the past 24 months, we have performed prenatal diagnostic studies in 4 pregnancies known to be at risk for well-described genetic syndrome involving renal abnormalities, ie, Meckel syndrome, Roberts syndrome, and bilateral renal agenesis. The diagnostic techniques utilized were ultrasonographic scanning (B-mode and grey scale), biochemical assays, and radiographic evaluation. The ultrasound finding common to the 3 affected cases was extreme oligohydramnios, which we considered indirect evidence that renal anomalies were present. The ultrasound scans of the fetuses affected with Meckel and Roberts syndrome demonstrated anechoic cystic spaces in the abdomen, representing the enlarged dysplastic cystic kidneys. An encephalocele was well demonstrated by B-mode scan in the fetus with Meckel syndrome. The absence of normal limbs in the Roberts syndrome was evident on serial grey scale scans of the fetus. Biochemical and radiographic studies provided results consistent with the suspected diagnoses. The importance of providing genetic counseling and prenatal diagnosis to families at risk is emphasized.

Amniotic Fluid↗
PubMed1976

Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.

A proportion of patients suffering from the autosomal recessive form of severe combined immunodeficiency have an inherited deficiency of adenosine deaminase (EC 3.5.4.4; adenosine aminohydrolase) (erythrocyte isoenzyme). We have, however, found residual adenosine deaminase activity in fibroblasts derived from four such patients. The enzyme responsible for this activity is biochemically homologous with the high-molecular-weight tissue isoenzyme of adenosine deaminase found in normal fibroblasts and tissues other than erythrocytes. The residual adenosine deaminase has an altered electrophoretic mobility, increased heat stability as compared to normals, and can be detected in fibroblasts of obligate heterozygotes. Our previous studies have indicated that the tissue and erythrocyte adenosine deaminase isoenzymes contain a common catalytic unit controlled by the gene affected in severe combined immunodeficiency with absent adenosine deaminase (erythrocyte isoenzyme). This residual adenosine deaminase therefore represents, most likely, a "mutant" enzyme in fibroblasts of patients with severe combined immunodeficiency. The data support the hypothesis that, in these patients, severe combined immunodeficiency is due to a mutation at the adenosine deaminase locus.

Adenosine Deaminase↗
PubMed1975

Adenosine-deaminase deficiency in a child diagnosed prenatally.

Deficiency of red-blood-cell adenosine deaminase (R.B.C.-A.D.A.) has been reported in a proportion of patients with the autosomal recessive form of severe combined immunodeficiency (S.C.I.D.). In a family in which a child had died with S.C.I.D., R.B.C.-A.D.A. levels in the parents and other members of the family were compatible with a heterozygous state for A.D.A. deficiency. Cultured amniotic-fluid cells obtained from a subsequent pregnancy contained less than 1.5% of A.D.A. activity of normal amniotic cultures. The prenatal diagnosis of A.D.A. deficiency was confirmed at birth by the absence of A.D.A. ACTIVITY IN THE CHILD'S RED-BLOOD-CELLS. Clinical and laboratory findings in this child are similar to those of the sibling who had died with S.C.I.D.

Aminohydrolases↗
PubMed1970

Trisomy 18.

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Adult↗