Sociodemographic factors and obesity in preadolescent black and white girls: NHLBI's Growth and Health Study.

The association of sociodemographic and family composition data with obesity was studied in 1213 black and 1166 white girls, ages 9 and 10, enrolled in the National Heart, Lung, and Blood Institute''s Growth and Health Study. Obesity was defined as body mass index at or greater than age- and sex-specific 85th percentile as outlined in the Second National Health and Nutrition Examination Survey. The prevalence of obesity was higher for pubertal girls than for prepubertal girls and for girls with older mothers/female guardians. As odds ratio of 1.14 was observed for each 5-year increase in maternal age. Obesity was less common for girls with more siblings; the odds for obesity decreased by 14% for each additional sibling in the household. In blacks, the prevalence of obesity was not related to parental employment or to parental education. In whites, the odds of obesity were higher for girls with no employed parent/guardian in the household and for girls with parents or guardians with lower levels of educational attainment. Examining the associations between sociodemographic factors and risk of childhood obesity provides important clues for understanding racial differences in obesity, a major risk factor for coronary heart disease.     

Malignant melanoma associated with melanocytoma of the optic disc

A 61-year-old white man underwent enucleation because of progressive growth of a pigmented epipapillary tumor that was diagnosed 9 years earlier as an optic nerve and juxtapapillary melanocytoma. Histopathologic studies showed the tumor was a malignant melanoma of the optic disc and juxtapapillary retina and choroid. Foci of typical melanocytoma cells were within the tumor. The tumor produced segmental atrophy of the optic nerve. This is a rare example of a malignant melanoma developing in conjunction with a lesion that possessed typical clinical and histopathologic features of a melanocytoma of the optic disc.     

Ankle and foot pain

An approach that allows a consistent, thorough evaluation can be recommended by a mnemonic using the words ankle/foot. The maxim about foot and ankle pain is that "the good exam begins at the back and ends at the toe." During this exam, the cutaneous, vascular, and neural systems need careful evaluation. The exam is directed to the region of maximal discomfort where careful palpation should pinpoint the spot of greatest tenderness. Once this region has been localized and signs and symptoms collected, consider the differential diagnosis specific for that area. This will narrow the focus, make the number of potential pain sources manageable, and often provide the answer. When the diagnosis is still unclear, obtain standard x-rays of the area. A directed evaluation to probe the region is appropriate. This can mean a bone scan to detect early avascular necrosis, stress fractures or osteomyelitis; an EMG-NCS to assess the neural circuitry; and special x-ray views, CAT scan, NMR, or arthrogram to uncover the difficult fracture. At this point, fortunately, the primary physician is not alone. The diagnostic dilemma or the difficult management case can be referred for a second opinion or therapeutic assistance to a podiatrist, rheumatologist, or the orthopedist with a special interest in feet.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.      

Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.      

Survey of the Distribution of a Newly Characterized Receptor for Advanced Glycation End Products in Tissues

Advanced glycation end products (AGEs), the final products of nonenzymatic glycation and oxidation of proteins, are found in the plasma and accumulate in the tissues during aging and at an accelerated rate in diabetes. A novel integral membrane protein, termed receptor for AGE (RAGE), forms a central part of the cell surface binding site for AGEs. Using monospecific, polyclonal antibody raised to human recombinant and bovine RAGE, immunostaining of bovine tissues showed RAGE in the vasculature, endothelium, and smooth muscle cells and in mononuclear cells in the tissues. Consistent with these data, RAGE antigen and mRNA were identified in cultured bovine endothelium, vascular smooth muscle, and monocyte-derived macrophages. RAGE antigen was also visualized in bovine cardiac myocytes as well as in cultures of neonatal rat cardiac myocytes and in neural tissue where motor neurons, peripheral nerves, and a population of cortical neurons were positive. In situ hybridization confirmed the presence of RAGE mRNA in the tissues, and studies with rat PC12 pheochromocytes indicated that they provide a neuronal-related cell culture model for examining RAGE expression. Pathological studies of human atherosclerotic plaques showed infiltration of RAGE-expressing cells in the expanded intima. These results indicate that RAGE is present in multiple tissues and suggest the potential relevance of AGE-RAGE interactions for modulating properties of the vasculature as well as neural and cardiac function, prominent areas of involvement in diabetes and in the normal aging process.