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Biomedical subjects

M Burley

Publications and source records attributed to M Burley.

8 recordsLinked to original sources
PubMed2005

The planning of rural health research: rurality and rural population issues.

Rurality and rural population issues require special consideration when planning both qualitative and quantitative health research in rural areas. The objective of this article was to explore the issues that require attention when planning the research. This is the first of two articles and focus on issues that require consideration when undertaking rural health research. The diversity of study populations, the feasibility of a research topic, the selection of a research team, and the cultural traditions of Indigenous communities, are all aspects of rural health research planning that require attention. Procedures such as identifying the characteristics of the population, the selection of measures of rurality appropriate for the research topic, the use of local liaison persons, decisions on the use of 'insider' or 'outsider' researchers, and the identification of skills resources available, increase the quality of the research outcomes. These issues are relevant to both qualitative and quantitative research. Procedures are available to address issues of particular concern in developing appropriate methods for rural health research. While we have concentrated on Australian issues and solutions, rural localities in other countries may face similar issues. Attention to rurality and rural situations when planning rural health research, results in studies that support the continued improvement of health in rural communities.

Adult↗
PubMed2005

The conducting and reporting of rural health research: rurality and rural population issues.

Rurality and rural population issues require consideration when conducting and reporting on rural health research. A first article focused on the planning stage of the research. The objective of this article is to explore conducting and reporting issues that require attention when undertaking rural health research. The privacy of participants, the collection of data, the cultural traditions of Indigenous communities, the dissemination of results, and giving something back to the community, are all aspects of conducting and reporting rural health research that require attention. Procedures such as identifying the characteristics of the population, attention to safety issues when collecting data, the use of local liaison persons and acknowledging the ownership of intellectual property, increase the quality of the research outcomes. They are issues that are relevant to both qualitative and quantitative research methods. Procedures are available to address issues of particular concern in developing appropriate methods for rural health research. While we have concentrated on Australian issues, and possible solutions, rural localities in many other countries may face similar issues. In any rural setting, paying attention to issues that may affect the conducting and reporting of rural health research will hopefully result in studies that support the continued improvement of health in rural communities.

Australia↗
PubMed1997

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation Arg589--> His was present in two families, while Arg589--> Cys and Ser613--> Phe changes were found in the other families. Linkage studies confirmed the co-segregation of the disease with a genetic marker close to AE1. The affected individuals with the Arg589 mutations had reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain. The red cells of individuals with the Ser613--> Phe mutation had markedly increased red cell sulfate transport but almost normal red cell iodide transport. The erythroid and kidney isoforms of the mutant band 3 proteins were expressed in Xenopus oocytes and all showed significant chloride transport activity. We conclude that dominantly inherited dRTA is associated with mutations in band 3; but both the disease and its autosomal dominant inheritance are not related simply to the anion transport activity of the mutant proteins.

4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid↗
PubMed1997

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). The TSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1 transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

Amino Acid Sequence↗
PubMed1991

Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset.

Tuberous sclerosis (TSC) is a multisystem autosomal dominant hamartosis whose genetics is complicated by reduced penetrance and widely varying clinical expression. Results of linkage analyses have variously suggested two different locations for a TSC gene. A collaborative dataset has been assembled to clarify the issue of genetic heterogeneity. We have now analyzed the data from a combined sample of 111 families. Using Ott's HOMOG programs, we completed three tests of homogeneity: (1) for chromosome 9q, (2) for chromosome 11q, and (3) for the combined 9q and 11q data. For test 1 the chi-square (1 df) was 21.54 (p less than 0.001), for test 2 the chi-square (1 df) was 0.13 (p greater than 0.35), and for test 3 the chi-square (2 df) was 37.61 (p less than 0.0001). Additionally, we examined the combined data for evidence that a third, as yet unlinked locus exists. Results of this last test were suggestive but not significant. Clearly loci for TSC are present on both chromosomes 9q and 11q. The maximum likelihood estimate of the proportion of chromosome 9q-linked families is 0.38, for chromosome 11q-linked families is 0.47, and for the unlinked type 0.15. Alternative explanations for these latter families include chance sampling of recombinants, nongenetic phenocopies, or misclassification.

Chromosomes, Human, Pair 11↗
PubMedDate not supplied

Lead in umbilical blood, indoor air, tap water, and gasoline in Boston.

A strong statistical correlation was found among the monthly averages of lead concentrations in umbilical cord blood (about 500 births/month), indoor air (12 sites/month), and gasoline lead sales between March, 1980 and April, 1981 in Boston. Tap water lead (24/month) variations did not correlate with blood lead in this population.

Air Pollutants↗