Biomedical subjects

Arthur W Musk

Publications and source records attributed to Arthur W Musk.

4 recordsLinked to original sources

PubMed2006

Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit.

BACKGROUND: A novel IL4RA polymorphism, Ala57Thr, was identified in Greenlander Inuit. OBJECTIVE: We sought to determine whether the novel Thr57 allele is population specific and to assess the associations of Ala57Thr and Ile50Val with atopy in 2 Inuit populations. METHODS: Ala57Thr and Ile50Val were genotyped in 651 Inuit living in Denmark, 1295 Inuit living in Greenland, and 1329 individuals from 7 populations from widely differing global locations. In Inuit the polymorphisms were evaluated for associations with atopy, rhinitis, asthma, and pulmonary function. RESULTS: Thr57 was in linkage disequilibrium with Ile50 (D' = 1, r(2) = 0.13) and was common (33%) in the Inuit but rare (<0.6%) in all other populations. In Inuit living in Denmark, the Thr57 allele (in a dose-dependent manner) and the Ile50/Thr57 haplotype were associated with lower risk of atopy (P(linear) = .003 and P = .034, respectively), with similar trends observed for atopic rhinitis and atopic asthma. In Inuit living in Greenland, Thr57 was not associated with atopy or atopic diseases, but Ile50 was weakly associated with lower risk of atopy. CONCLUSION: The novel IL4RA Ala57Thr was common in and population specific to Greenlander Inuit, with Thr57 associated with a lower risk of atopy in those living in Denmark. Hence a full investigation of genotype-phenotype relationships in a given population can only be achieved if each gene is screened for novel polymorphisms in that population. CLINICAL IMPLICATIONS: Clinical risk attributable to variations in a gene in an ethnic group requires that all variations of the gene are known for that group.

Adult↗

PubMed2006

Asbestos-related disease from recycled hessian superphosphate bags in rural Western Australia.

OBJECTIVES: To describe the dissemination of asbestos fibres within the Western Australian community. METHODS: A case report. RESULTS: A 60-year-old female was referred for investigation of calcified pleural plaques. On questioning, she recalled exposure to asbestos as a child on the family farm. She had shaken hessian bags prior to recycling to the fertiliser supplier. Her father survived to 90 years. Her mother died from malignant pleural mesothelioma. Four of five siblings had shaken the bags, two had radiographic evidence of pleural plaques while two others had not had recent chest x-rays. CONCLUSIONS: It appears that the use of recycled hessian bags for the fertiliser industry was endemic in the State during the period 1943-66. It is possible that many farmers and their families have had similar exposure to asbestos. IMPLICATIONS: The risk of developing an asbestos-related disease is not restricted to any specific social or employment groups within the Australian community.

Asbestos↗

PubMed2004

Short- and long-term hospital and community exercise programmes for patients with chronic obstructive pulmonary disease.

OBJECTIVE: Pulmonary rehabilitation in patients with COPD has been shown to be beneficial but the optimal setting is not known. In the present study, the efficacy of a short-term community-based exercise programme was compared with a standard hospital outpatient programme. Additionally, the usefulness of community or home programmes in maintaining improvements in the longer term was studied. METHODOLOGY: Forty-three patients with moderate to severe COPD were randomized to one of the following three groups: a 3-month hospital programme then a 9 month home programme (Hospital/Home); a 3-month hospital programme then a 9-month community programme (Hospital/Community); or a 12-month community programme (Community/Community). The initial 3-month programme was analysed by comparing the Hospital group (Hospital/Home plus Hospital/Community) with the Community group (Community/Community). Six-minute walking distance (6MWD), quality of life (Guyatt chronic respiratory disease questionnaire, CRQ) and lung function were measured at 0, 3, 6 and 12 months and results were analysed using the Wilcoxon rank sum test. RESULTS: At 3 months, there was a significant improvement from baseline in 6MWD in the Hospital group (81.3 +/- 18.3 m, P < 0.05, anova) but not the Community group (14.4 +/- 28.5 m, not significant). The difference between the groups was not significant (P = 0.058). At 3 months, there was a significant improvement in quality of life in the Hospital group (CRQ +16.3 +/- 3.1, P < 0.01, anova) and in the Community group (CRQ +10.2 +/- 4.9, P < 0.05, anova) but the difference between the groups was not significant. Following the initial 3-month programme, the dropout rate was high overall (73% by 12 months), and therefore data from the maintenance programme could not be analysed. CONCLUSIONS: A 3-month community-based exercise programme for patients with COPD did not improve 6MWD. The long-term retention rates in the programmes were poor.

Aged↗

PubMedDate not supplied

Malignant mesothelioma.

Malignant mesothelioma is an aggressive, treatment-resistant tumour, which is increasing in frequency throughout the world. Although the main risk factor is asbestos exposure, a virus, simian virus 40 (SV40), could have a role. Mesothelioma has an unusual molecular pathology with loss of tumour suppressor genes being the predominant pattern of lesions, especially the P16INK4A, and P14ARF, and NF2 genes, rather than the more common p53 and Rb tumour suppressor genes. Cytopathology of mesothelioma effusions or fine-needle aspirations are often sufficient to establish a diagnosis, but histopathology is also often required. Patients typically present with breathlessness and chest pain with pleural effusions. Median survival is now 12 months from diagnosis. Palliative chemotherapy is beneficial for mesothelioma patients with high performance status. The role of aggressive surgery remains controversial and growth factor receptor blockade is still unproven. Gene therapy and immunotherapy are used on an experimental basis only. Patterns identified from microarray studies could be useful for diagnosis as well as prognostication.

Asbestos↗