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Biomedical subjects

J Milner

Publications and source records attributed to J Milner.

At least 91 records · Page 5Linked to original sources

Coordinated system for comprehensive newborn metabolic screening.

In September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infant's life. During the first 22 months, 167,458 specimens were received; 151,250 from infants less than or equal to 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (greater than or equal to 12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result ad the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).

Academic Medical Centers↗

The inheritance of sinking-pre-beta lipoprotein and its relation to the Lp(a) antigen.

We have investigated the genetics of plasma sinking-pre-beta lipoprotein (sp beta) as determined by the method of Breckenridge and Maguire, using several approaches: (i) a population study, (ii) a twin study and (iii) the use of family data. In addition, by the use of split samples, the sp beta level as determined by us was correlated with Lp(a) typing carried out in Oslo by Dr. Kåre Berg. Although the sp beta level is a continuous character, the results clearly showed it to be to a considerable extent under the control of the major autosomal gene pair constituted by the alleles Lpa and Lp, which mainly control the production of the Lp(a) antigen, Lpa being dominant. In our data the boundary between the LpLp and LpaLp genotypes appeared to fall between the sp beta 2 and 3 mg% levels, while that between LpaLp and LpaLpa was in the 15 mg% region. These boundaries, which were inferred from both typing and population statistics, received good confirmation from the family data. It appears that some 88% of the variation in sp beta level is directly ascribed to segregation of Lpa and Lp. On the basis of the twin study and other data, we conclude that the residual observed variation in sp beta is almost entirely ascribed to analytical error of determination and polygenic effects, the influence of environment being negligible. The heritability is close to 100%.

Antigens↗

Evidence for a physiological regulation of food selection and nutrient intake in twins.

Making use of the Holzinger Index of Heritability, the genetic effect on nutrient intake was assessed in 13 monozygotic and 10 dizygotic pairs of healthy female adult Caucasian twins. From 3-day food records, intakes of total energy, protein, fat, carbohydrate, and alcohol as well as the concentrations of the energy sources as percentage of calories, were calculated. The diets of monozygotic twins were significantly more similar than were those of dizygotic twins for the protein concentration, the carbohydrate concentration, and the absolute intake of carbohydrate per day. The present findings support the hypothesis that in the free-living human primitive physiological mechanisms influencing food selection independent of total food intake are operative and that these mechanisms are subject to genetic influence.

Adult↗

Lymphocyte stimulation: concanavalin A induces the expression of a 53K protein.

When non-dividing T lymphocytes are treated with concanavalin A in vitro they are stimulated to undergo DNA synthesis and mitotic division. This stimulation is dependent upon the expression of inducible genes. We have now detected a protein that is newly expressed in mouse lymphocytes following mitogenic stimulation. This protein has an apparent molecular weight of 53,000 daltons and may be related to the 53,000 dalton protein that is synthesised constitutively in embryonal carcinoma cells and in SV40 - transformed cells in which it binds to SV40 large-T antigen.

Animals↗

Intravenous infusion of a dextrin, Caloreen, in human subjects: metabolic studies.

1. Caloreen, a glucose-polymer dextrin infused into human volunteers, although producing a clear increase in total plasma carbohydrate did not produce a satisfactory increase in plasma glucose levels or serum insulin levels. 2. Urinary losses were high and although small fragments of the dextrin (suggesting metabolic breakdown of the dextrin) were demonstrated in the urine, no suppression of plasma free fatty acid, glucagon or immediate increase in the respiratory quotient were noted, suggesting that the metabolism is too slow to make it useful for parenteral nutrition in its present form. 3. A dextrin with fewer branch-links might be more suitable.

Adult↗