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Biomedical subjects

C C Mabry

Publications and source records attributed to C C Mabry.

At least 19 recordsLinked to original sources
PubMed1988

A source of error in phenylketonuria screening.

The escalating number of blood specimens from late-fed premature or very sick newborns greatly increases the risk of missing the diagnosis of phenylketonuria (PKU). Babies receiving antibiotics have uninterpretable "clear-zone" results with the traditional Guthrie bacteriologic inhibition assay (BIA). For the past year the authors have reexamined the blood phenylalanine level on specimens giving the "clear-zone" effect by BIA by use of the McCaman-Robins chemical-fluorescent assay (CFA). Spuriously high blood phenylalanine levels occurred in four babies who were receiving ampicillin and whose specimens were collected on filter paper and autoclaved in preparation for the BIA. None of the babies proved to have PKU. The fluorescent interference caused by ampicillin resulted from the heat of autoclaving the specimen. The authors recommend that the blood specimen should not be autoclaved before analysis by either BIA or CFA.

Agar↗
PubMed1978

The association of significant renal anomalies with Turner's syndrome.

The incidence of significant renal anomalies in 38 patients with Turner's syndrome was 26 per cent (10 of 38 cases). An additional 11 per cent of the patients have insignificant renal abnormalities and 63 per cent apparently have normal excretory urograms. In this series there seemed to be no correlation of the incidence of abnormalities with either the phenotypic or karyotypic expression of Turner's syndrome, that is the 45/XO pattern of the mosaic variants. Therefore, clinicians should be aware that any patient with Turner's syndrome must receive a thorough clinical and radiologic evaluation of the urogenital tract.

Adolescent↗
PubMed1976

Congenital graves disease. Four familial cases with long-term follow-up and perspective.

Congenital Graves disease has been described as a transient disorder in which the mother has or has had hyperthyroidism. Experience with four affected children to ages 5 to 9 years and a review of published cases led us to conclude that long-acting thyroid stimulator (half-life, six days) is not the cause of the disease. This disease occurs in infants from families with a high incidence of Graves disease, and, in many, hyperthyroidism persists for months or years. The pathogenesis of Graves disease is unknown, and the simplistic maternal-to-fetal humoral theory is not a suitable explanation for congenital Graves disease. If Graves disease is considered in the larger perspective than the maternal-fetal unit, a pattern of inheritance is apparent, ie, an autosomal-dominant trait with a predilection for the female individual.

Child↗
PubMed1974

Trismus pseudocamptodactyly syndrome: Dutch-Kentucky syndrome.

A hand, foot, and mouth combination of anomalies, which is apparent on motion, has been traced through eight generations of a southern Appalachian family. The clinical features from birth to old age are presented, and attention is called to the handicapping aspects. There is a great variability in severity of the trait. Inheritance occurs as an autosomal dominant trait, but there are fewer affected persons than expected, especially females.

Abnormalities, Multiple↗