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Biomedical subjects

W Adkins

Publications and source records attributed to W Adkins.

5 recordsLinked to original sources
PubMed1997

Decreased maternal age with hydranencephaly.

We studied parental ages of institutionalized children with hydranencephaly. Mothers under age 20 years and under age 18 years were, respectively, 5 and 10 times as frequent as in the general population, and 3 and 4 times more frequent than for institutionalized control patients. Unwed mothers were also common, but may reflect high rates in younger mothers combined with institutionalization bias. Thus, hydranencephaly appears to show a decreased maternal age effect, similar to that seen with other conditions presumably due to prenatal vascular disruptions.

Adolescent↗
PubMed1996

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known. Clinical, biochemical, and microscopic analyses suggest that OPS may be a disorder of matrix homeostasis rather than a disorder of matrix structure. Consequently, identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such as postmenopausal and senile osteoporosis. As a first step toward determining the cause of OPS, we utilized a combination of traditional linkage analysis and homozygosity mapping to assign the OPS locus to chromosome region 11q12-13. Mapping was accomplished by analyzing 16 DNA samples (seven affected individuals) from three different consanguineous kindreds. Studies in 10 additional families narrowed the candidate region, supported locus homogeneity, and did not detect founder effects. The OPS locus maps to a 13-cM interval between D11S1298 and D11S971 and most likely lies in a 3-cM region between GSTP1 and D11S1296. At present, no strong candidate genes colocalize with OPS.

Alleles↗
PubMed1985

Narrow trachea in mucopolysaccharidoses.

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglycan (mucopolysaccharide). Autopsies of two patients with other storage diseases, one with geleophysic dysplasia and one with mucolipidosis II, also exhibited compromise of their airways because of storage material accumulation.

Adolescent↗
PubMed1985

The effects of dietary fibre in a liquid diet on bowel function of mentally retarded individuals.

A soy polysaccharide at a level of 20-22.3 g/day was added to a liquid formula diet provided to constipated, tube-fed, nonambulant, severely or profoundly mentally retarded individuals. This amount of polysaccharide contained 15.6-17.4 g of dietary fibre or 4.9-5.5 g of neutral detergent fibre. The fibre formula was well tolerated by the subjects and increased stool size and improved stool consistency. At these levels of fibre and short duration of the study, defecation rate and need for elimination aids were unaffected. Transit times of 5 to 6 days were unchanged but mean daily stool weights increased to a level equivalent to low normal values for healthy adults on a low fibre intake.

Adolescent↗