Biomedical subjects
Publications and source records attributed to E R McCabe.
The clinical diagnosis of recurrent Reye's syndrome can be made only after a systemic exclusion of other diagnostic possibilities. We report such a case, providing guidelines for a complete clinical and biochenical evaluation of this entity. If a comprehensive study of patients experiencing recurrent Reye's syndrome is to be made, each patient must be subjected to thorough examination.
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted in phenylalanine and tyrosine. At 9 1/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The patient received a liver transplant and tyrosine metabolites became normal while she was receiving a regular diet. Three months later, an infected thrombosis of the portal vein caused her death. Liver transplant appears to be an effective method of enzyme replacement in tyrosinemia and should be considered for prevention of hepatoma.
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gamma-Hydroxybutyrate and ethanol, as well as gamma-butyrolactone and ethanol are potentiative with respect to duration of loss of the righting reflex (sleep time). The concentration of ethanol in the liver decreases from 30 to 90 minutes after rats are injected with ethanol, but there is no change when ethanol is injected with gamma-butyrolactone. In view of the fact that gamma-hydroxybutyrate is a natural intermediate in brain, the effects of ethanol on the central nervous system may be mediated through its interaction with gamma-butyrolactone.
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Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low or phenylalanine-free formulae provide the majority of protein and energy in the diet while phenylalanine requirements are met by low-protein natural foods. Because of the restriction of natural protein sources in this diet, the study assessed the zinc and copper nutriture of treated children with PKU and correlated linear growth with zinc status. The plasma zinc of the PKU population was 66.6 +/- 3.3 micrograms/dl (mean +/- SEM). The hair zinc was 70.2 +/- 11.5 micrograms/g (mean +/- SEM). The mean plasma and hair zinc of the PKU population were significantly different (p less than 0.05) when compared to normal values of 84.2 +/- 2.9 micrograms/dl and 130.7 +/- 8.3 micrograms/g (mean +/- SEM), respectively. The dietary zinc intake of 10 PKU patients was 8.56 +/- 2.68 mg/day (mean +/- SD). No significant differences (p less than 0.123) were found when the mean zinc intake was compared with recommended dietary allowances for age of 10 mg/day. No significant correlations were found when plasma and hair zinc were plotted with height percentiles. Plasma copper of the PKU subjects (87.6 +/- 6.6 micrograms/dl, mean +/- SEM) was significantly less than that of normal young children (121.5 +/- 3.1 micrograms/dl, mean +/- SEM) despite a copper intake a 1.45 +/- 0.35 mg/day (mean +/- SD).
Molecular genetic technology is diffusing from the research laboratory to the clinical laboratory, where it has already begun to influence prenatal diagnosis and counseling. In the very near future, this technology will be applied more generally, using population-based screening strategies. Pilot programs are beginning to evaluate the technical feasibility and efficacy of recombinant DNA techniques for newborn screening follow-up. DNA-based population screening is being considered for heterozygous carriers of an autosomal recessive disorder such as cystic fibrosis in order to identify carrier couples at risk of having an affected child. We will review the current DNA methodologies in the context of three genetic disorders: sickle-cell disease, Duchenne muscular dystrophy, and cystic fibrosis. We will then consider the requirements for implementation of these new technologies. We will conclude that implementation will require two key factors: machines and people. Machines are required to automate molecular genetic procedures, which are currently personnel-intensive, so that the expense can be reduced and the procedures made more cost-effective. The people who are required are health professionals knowledgeable in the clinical aspects of the target disorders, as well as in the DNA laboratory testing. These professionals will be able to facilitate sample acquisition and information exchange among the laboratory, the primary health care provider, and the families requesting consultation.
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Continuous subcutaneous insulin infusion (CSII) systems have been used in diabetes management since the mid-1970s. Investigators have reported encouraging results with CSII use in adult subjects with dramatically improved glucose control, reversal of some complications, and high acceptance and compliance rates. We have studied 10 adolescents and 3 young adults using CSII for diabetes management. Only the three young adults (ages 20, 24, 34 years) have had markedly improved metabolic control, sustained pump use, and made adequate psychological adjustment to CSII therapy. Adolescent subjects, (ages 9-17 years), experienced problems with peer acceptance of pumps, had difficulty with infusion needle insertion and skin care, were unable to perform home blood glucose monitoring consistently, made nonadvised manipulations of insulin dosage and reported mechanical problems with CSII devices more frequently than the young adult subjects. Mean duration of CSII use in adolescent subjects (6.1 months) was significantly less than mean use (30.6 months) among the young adults (p less than 0.01). Currently, adults appear to have greater success than adolescents in using CSII for diabetes management.