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Biomedical subjects

H J Binns

Publications and source records attributed to H J Binns.

6 recordsLinked to original sources

Ultrasound screening of high-risk infants. A method to increase early detection of congenital dysplasia of the hip.

Congenital dysplasia of the hip (CDH) continues to be missed by routine physical screening examinations in the early months when treatment is most effective. Real-time ultrasonography (US) is valuable in the detection of CDH in the young infant. We performed a prospective study to evaluate one US screening strategy that targets a select "high-risk newborn" population at risk for CDH aiming to increase the early diagnosis of this condition. From 1772 consecutive births at one hospital, we identified 97 (5.5%) newborns with risk factors for CDH: breech delivery, 73 babies; family history, 26 babies; postural abnormalities, five babies; and oligohydramnios, four babies. Eleven newborns had two risk factors. We studied 69 of these newborns with US. There were four cases of CDH in this group. Three of these babies had completely normal pediatric physical examination results at the time of the US study (at 14, 75, and 100 days, respectively) despite dysplasia diagnosed by US. All were successfully treated with a harness as outpatients. We conclude that a screening program entailing identification and subsequent US of the hip of newborns with specific physical and historical risk factors for CDH increases early diagnosis. Further analysis suggests this approach is cost-effective.

Female

Family history evaluation as a predictive screen for childhood hypercholesterolemia. Pediatric Practice Research Group.

A study was conducted to evaluate the efficacy of family history factors as screening criteria for childhood hypercholesterolemia. When they were seen for routine care at one of eight office practices, 1005 prepubertal children underwent random serum cholesterol determinations. Parental and grandparental histories of cardiovascular risk factors and atherosclerotic complications prior to 55 years of age were also obtained. Of the initial group, 274 children had total cholesterol levels greater than or equal to 175 mg/dL, and 175 of these children returned for retesting after an overnight fast. A total of 88 children were found to have low-density lipoprotein-cholesterol (LDL-C) values greater than or equal to 90th percentile for age and sex. Maternal and paternal histories of hypercholesterolemia were significantly associated with elevated LDL-C (odds ratio = 7.3 and 2.9, respectively), but had extremely low sensitivities (0.09, 0.15) despite modest positive predictive values (0.42, 0.22). Grandparental histories of sudden death, peripheral vascular disease, and gout were associated with elevated LDL-C, but sensitivities and positive predictive values for all of these factors were less than 0.22. Family history factors most commonly recommended as criteria for cholesterol screening in children did not identify half of all the children with elevated LDL-C and did not selectively identify the most severely affected children. Adding information concerning the presence of childhood obesity did not result in appreciable improvement in LDL-C detection beyond that achieved by family history factors alone. It was concluded that if thorough identification of young children with elevated LDL-C is desired, inclusive population screening rather than a family history-based strategy would be the most effective approach.

Adolescent

Practice-based research: opportunities and obstacles.

Renewed interest in practice-based research reflects growing realization of the limitations of research from a hospital perspective. Practice-based pediatric research promises to broaden the range and severity of conditions commonly studied, to enhance the study of the natural history of disease and of normal development, to provide normal controls and standards, and to facilitate recruitment of adequate sample sizes. Cohort, incidence, and health services research will be promoted by the development of patients registries. The Chicago area Pediatric Practice Research Group is a research consortium of 81 practitioners in 27 office practices. Formed in 1984, it receives logistic and financial support from Children's Memorial Hospital, with which it is affiliated. The Pediatric Practice Research Group has undertaken six studies, most with outside funding. During these studies, some unifying characteristics of practice-based research have emerged. These include the need to tailor study protocols to individual practice characteristics and routines and the critical role of office staff in the conduct of research. Features can be identified that make specific studies more or less intrusive into office functioning. It has proved feasible to obtain data of high quality and reproducibility despite geographically scattered data collection sites. This review of Pediatric Practice Research Group activities and experience is intended to open an exchange of ideas with others interested in practice-based research.

Humans

Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidoses.

Confirmation of deficient beta-hexosaminidase activity in suspected cases of GM2 gangliosidosis may be difficult with available assay systems if the residual activity is high (as in many juvenile cases and genetic compounds). Hexosaminidase activity is normal in the AB-variant (activator protein deficiency), although GM2-ganglioside (GM2) catabolism is severely impaired. We therefore examined ganglioside degradation in intact fibroblasts in culture. Intracellular ganglioside levels were determined in cultured human skin fibroblasts grown in standard tissue culture medium or medium supplemented with mixed bovine brain gangliosides. Cellular uptake and catabolism of the added gangliosides were manifested by modest increases in the intracellular concentrations of gangliosides GT + GD and GM1 in all cells tested, and marked accumulation of GM2 in fibroblasts from patients with GM2 gangliosidoses. Intracellular GM2 increased five- to fifteen-fold in all of the GM2 gangliosidosis cell lines tested, including those from patients with infantile Tay-Sachs disease (TSD), Sandhoff disease, late infantile and juvenile variants of TSD with high residual enzyme activity, adult onset GM2 gangliosidosis, and the AB-variant. Significant GM2 accumulation did not occur in fibroblasts from patients with GM2 gangliosidosis grown in standard medium, or in normal fibroblasts grown in ganglioside enriched medium. Our method of ganglioside feeding employs commercially available materials and no special equipment. It should be useful for the confirmation of impaired GM2 catabolism in a variety of settings.

Cells, Cultured