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Biomedical subjects

H M Nelson

Publications and source records attributed to H M Nelson.

14 recordsLinked to original sources
PubMed2001

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

Dominant transmission of multiple uterine and cutaneous smooth-muscle tumors is seen in the disorder multiple leiomyomatosis (ML). We undertook a genomewide screen of 11 families segregating ML and found evidence for linkage to chromosome 1q42.3-q43 (maximum multipoint LOD score 5.40). Haplotype construction and analysis of recombinations permitted the minimal interval containing the locus, which we have designated "MCUL1," to be refined to an approximately 14-cM region flanked by markers D1S517 and D1S2842. Allelic-loss studies of tumors indicated that MCUL1 may act as a tumor suppressor. Identification of MCUL1 should have wide interest, since this gene may harbor low-penetrance variants predisposing to the common form of uterine fibroids and/or may undergo somatic mutation in sporadic leiomyomata.

Chromosome Mapping↗
PubMed1999

High-resolution maps of the murine Chromosome 2 region containing the cholesterol gallstone locus, Lith1.

The Lith1 region on Chromosome (Chr) 2 contains a gene that markedly affects the prevalence of cholesterol gallstones in inbred mice. We report the high-resolution genetic and radiation hybrid maps of the chromosomal region surrounding Lith1, using three resources: a DNA panel from 188 progeny from two reciprocal backcrosses between C57BL/6 and Mus spretus inbred strains; 423 progeny of an N4 generation from backcrossing the susceptible C57L/J alleles at Lith1 into the resistant AKR/J strain; and the newly developed hamster-mouse T31 radiation hybrid panel. We mapped 17 microsatellite markers in the D2Mit182 to D2Mit14 region and two candidate genes for Lith1, the canalicular bile salt export pump (Bsep) also known as sister of P-glycoprotein (Spgp) and the low-density-lipoprotein-receptor-related gene megalin (Gp330). Both genetic maps were in agreement and ordered the microsatellite markers into a 10.4 +/- 1.5 cM region. The high-resolution physical map revealed ordering of microsatellite markers and relative distances between markers in almost complete agreement with the genetic maps. Mapping of Bsep revealed its location on Chr 2, homologous to the human chromosomal position (Nature Genet 20, 233-238, 1998). The radiation hybrid results also provided the highest resolution of the area containing the two candidate genes, which both mapped in the Lith1 region with close linkage, being separated by a distance of only 15 cR(3000). The total radiation hybrid map length of the region between D2Mit182 and D2Mit14 was 326 cR(3000), suggesting that 31 cR(3000) is equivalent to 1 cM in this region of Chr 2.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed1981

Zinc, copper and delta-aminolaevulinic acid dehydratase in vitro and in vivo.

The effects of zinc and copper on delta-aminolaevulinic acid dehydratase were studied in vitro and in vivo. The in vitro addition of zinc alone to whole blood resulted in a highly significant increase in enzyme activity. The addition of copper alone had the opposite effect with a significant decrease in enzyme activity. When both elements were added to whole blood the inhibitory effect of copper was reduced. In in vivo studies of plasma zinc, plasma copper and whole blood delta-aminolaevulinic acid dehydratase, a positive correlation was found between plasma zinc and whole blood delta-aminolaevulinic acid dehydratase and a negative correlation was found between plasma copper and enzyme activity.

Copper↗
PubMed1981

Studies in cutaneous immunofluorescence. II. Histological and direct immunofluorescence observations in clinically normal skin of patients with rheumatoid arthritis.

Twenty patients with rheumatoid arthritis (RA) had a biopsy taken from clinically normal skin. These were examined for histological and immunological abnormalities and were compared to those of 8 patients with osteoarthritis (OA). No 'lupus band; linear deposition of immunoglobulin or complement at the dermo-epidermal interface was seen in any patient in either group. Perivascular deposits were seen in 5 out of 20 (25%) patients with RA. These were IgM in all 5 cases with additional C3 in 2 cases (10%) and additional fibrin in one case (5%). No immunoprotein deposits were seen in specimens from any OA patient. 4 of the 5 patients with perivascular immunoprotein deposits had circulating ANAs present and dilutions of 1/256 or higher but normal DNA binding. A sparse perivascular, predominantly lymphocytic infiltrate was seen in 13 out of 20 (65%) patients with RA and 3 of 8 (35%) patients with OA.

Arthritis, Rheumatoid↗
PubMed1980

The use of the Psorilux 3050A machine in the management of psoriasis of the hands and feet.

Eleven patients with severe psoriasis involving the palms and soles have been treated using a high-energy source of UV-A and UV-B with no additional topical or systemic photosensitizing drug. The results showed marginal benefit of UV-A alone over conventioonal topical tar therapy. The high energy output of the machine makes it essential that personnel supervising therapy are adequately protected.

Foot Dermatoses↗
PubMed1978

Silica flour exposures in Ontario.

A total of 16 cases of silicosis are reported in Ontario plants where there was exposure to silica flour. Dust counts expressed as mppcf are shown for four of these plants taken over a period of 37 years. A relationship has been obtained experimentally to permit conversion of the counts to respirable mass concentrations. Based on the information obtained, a TLV of 0.05 mg/m3 for silica flour is proposed.

Air Pollutants↗
PubMedDate not supplied

Head Start on health.

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Child, Preschool↗