Biomedical subjects
Publications and source records attributed to D P Wilson.
Two infants with persistent, symptomatic hypoglycemia are reported. Both were thought to have iatrogenic hyperinsulinism due to a malpositioned umbilical artery catheter. Repositioning of the catheter to avoid direct infusion into the arterial blood supply to the pancreas resulted in prompt cessation of hypoglycemia.
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A microcomputer program is described which facilitates analysis of normal and abnormal growth patterns in children. The program compares individual growth data with established normals, calculates indices and provides both printed summaries as well as graphic displays.
Compliance with blood glucose monitoring was studied in 18 children with type 1 diabetes. Using specially equipped blood glucose reflectance meters, children monitored their blood glucose levels, with and without knowledge of the meter's memory capability. Poor compliance, as exhibited by fabricated test results (40%) and failure to record test results (18%), occurred in a significant proportion of children. Further research is needed to explore reasons for such behavior and to suggest strategies for improving compliance.
Newborn hypothyroid screening in four private hospitals was prospectively evaluated and compared with a state screening program. During 1982 the hospitals screened a total of 10,786 infants compared with 47,525 by the state. Eight cases of primary hypothyroidism were confirmed by the state, for an incidence of one in 5,941. No cases were detected by the hospital programs. The cost for all infants screened in the private hospitals was 51.5 times more than the total cost of the state program, yet the state screened 4.4 times more infants.
Sixteen subjects with insulin-dependent diabetes mellitus were studied to determine whether changes in plasma lipids and apolipoproteins follow intensified control using preprandial doses of regular insulin with an additional dose of NPH insulin before bedtime. The mean total dialy dose of insulin was increased from 1.03 +/- 0.09 to 1.17 +/- 0.44 units/kg throughout the six-month period. Levels of HDL-cholesterol and apolipoprotein A-I increased without significant changes in hemoglobin A1 (HbA1), triglyceride, or cholesterol. These findings suggest that increases in HDL-cholesterol and apolipoprotein A-I were a result of the intensified insulin delivery.
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In this ligand-binding assay procedure, sensitivity is enhanced by successive generation of enzyme active sites via two zymogens from the blood-coagulation cascade: Factor X and prothrombin. A protease fraction from Russell's viper venom (RVV) acts upon Factor X, initiating a two-step cascade that culminates in generation of thrombin, the activity of which is monitored with a chromogenic substrate. In the model presented here, the analyte of interest, biotin, is covalently coupled to Factor X. In the presence of avidin, a biotin-binding protein, RVV cannot initiate cascade activity; however, the inhibition can be competitively overcome by addition of free biotin to the reaction mixture. In a complete system, the dose-response curve is linear from 20 to 100 nmol of biotin per liter. Such an assay offers improved sensitivity over many radioisotope-independent immunoassay methods, and may be applicable to a wide variety of analytes.
The diagnosis of hypoparathyroidism by radioimmunoassay of serum parathyroid hormone (PTH) has been hampered by lack of an assay system sensitive enough to allow discrimination between low and normal values. A new assay for human PTH that has improved sensitivity has been developed. It uses an homologous antiserum (against the human hormone) and uses a carboxy-terminal fragment of bovine PTH as tracer to provide an assay monospecific for the midregion of PTH. Immunoreactive PTH (iPTH) was detectable in 25/27 normal children and borderline detectable in the other two. The pediatric normal range was slightly lower than that previously established in adults. Among patients with secondary hyperparathyroidism and normal renal function, iPTH was 3- to 8-fold elevated in those with rickets, and 1.3- to 2.0-fold above normal in those with more acute forms of hypocalcemia. Twelve patients with hypoparathyroidism were studied. iPTH was undetectable in seven with permanent total hypoparathyroidism, and was borderline detectable in five, including four neonates who proved to have transient hypoparathyroidism. In these four patients, iPTH became detectable as the requirements for supplemental calcium decreased. Measurement of iPTH with an adequately sensitive assay may be useful in the diagnosis and management of pediatric hypocalcemia.
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Cytogenetic analysis of a 15 month old girl evaluated for severe developmental delay and acral skeletal hypoplasia revealed a predominant 46,XX,r(15) karyotype. Prophase banding analysis showed minimal deletion of the ring chromosome (breakpoints p12 and q26), while silver staining showed it to have an active nucleolus organizing region, multiple abnormal secondary configurations, and decreased satellite association. Although there was no spontaneous instability in the rest of the karyotype, gentian violet-induced chromosome breakage was significantly increased. The rate of spontaneous sister chromatid exchange was not elevated. Cellular mosaicism for chromosome 15 aneuploidy most likely accounts for the patient's phenotypic abnormalities.
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We evaluated testicular function in 15 men with the Martin-Bell (fragile-X) mental retardation syndrome. Macro-orchidism was present in all subjects. Their mean serum LH and FSH levels and plasma testosterone and dihydrotestosterone levels were normal. The mean plasma levels of androstenedione, 17-hydroxyprogesterone, and progesterone were slightly elevated above the normal range, whereas the plasma levels of dehydroepiandrosterone and dehydroepiandrosterone-sulfate were normal. The response in the levels of plasma testosterone following a 5 day period of hCG stimulation was normal in 8 subjects and there was no abnormal accumulation of androgen precursors. The level of 5 alpha-reductase activity and androgen receptor binding was normal in genital skin fibroblasts derived from 3 of these patients. The response of gonadotropin secretion to GnRH stimulation was normal in the 8 men who were tested. Therefore, our data are consistent with the hypothesis that testicular enlargement in men with the Martin-Bell syndrome is not mediated by hormonal factors.