Army families and the general practitioner.
The military component of a rural general practice is described with details of increased workload and morbidity for conditions associated with emotional stress. (+info)
Analysis of affected sib pairs, with covariates--with and without constraints.
Covariate models have previously been developed as an extension to affected-sib-pair methods in which the covariate effects are jointly estimated with the degree of excess allele sharing. These models can estimate the differences in sib-pair allele sharing that are associated with measurable environment or genes. When there are no covariates, the pattern of identical-by-descent allele sharing in affected sib pairs is expected to fall within a small triangular region of the potential parameter space, under most genetic models. By restriction of the estimated allele sharing to this triangle, improved power is obtained in tests for genetic linkage. When the affected-sib-pair model is generalized to allow for covariates that affect allele sharing, however, new constraints and new methods for the application of constraints are required. Three generalized constraint methods are proposed and evaluated by use of simulated data. The results compare the power of the different methods, with and without covariates, for a single-gene model with age-dependent onset and for quantitative and qualitative gene-environment and gene-gene interaction models. Covariates can improve the power to detect linkage and can be particularly valuable when there are qualitative gene-environment interactions. In most situations, the best strategy is to assume that there is no dominance variance and to obtain constrained estimates for covariate models under this assumption. (+info)
Latino children's health and the family-community health promotion model.
A majority of Latino children in the US live in poverty. However, unlike other poor children, Latino children do not seem to have a consistent association between poverty and poor health. Instead, many poor Latino children have unexpectedly good health outcomes. This has been labeled an epidemiologic paradox. This paper proposes a new model of health, the family-community health promotion model, to account for this paradox. The family-community health promotion model emphasizes the family-community milieu of the child, in contrast to traditional models of health. In addition, the family-community model expands the outcome measures from physical health to functional health status, and underscores the contribution of cultural factors to functional health outcomes. In this paper, we applied the family-community health promotion model to four health outcomes: low birthweight, infant mortality, chronic and acute illness, and perceived health status. The implications of this model for research and policy are discussed. (+info)
Food insecurity: consequences for the household and broader social implications.
A conceptual framework showing the household and social implications of food insecurity was elicited from a qualitative and quantitative study of 98 households from a heterogeneous low income population of Quebec city and rural surroundings; the study was designed to increase understanding of the experience of food insecurity in order to contribute to its prevention. According to the respondents' description, the experience of food insecurity is characterized by two categories of manifestations, i.e., the core characteristics of the phenomenon and a related set of actions and reactions by the household. This second category of manifestations is considered here as a first level of consequences of food insecurity. These consequences at the household level often interact with the larger environment to which the household belongs. On a chronic basis, the resulting interactions have certain implications that are tentatively labeled "social implications" in this paper. Their examination suggests that important aspects of human development depend on food security. It also raises questions concerning the nature of socially acceptable practices of food acquisition and food management, and how such acceptability can be assessed. Guidelines to that effect are proposed. Findings underline the relevance and urgency of working toward the realization of the right to food. (+info)
Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions.
Reduced expression of BRCA1 has been implicated in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. To determine whether regulatory mutations could account for the reduced expression, we screened the promoter region by sequencing in 20 patients with sporadic disease. No mutations were detected; however, a new polymorphism consisting of a C-to-G base change within the beta-promoter was identified, with the frequency of the G allele being 0.34. Close to complete linkage disequilibrium was found between this marker and the Pro871 Leu polymorphism, situated in exon 11, which has previously been shown not to be associated with breast or ovarian cancer. This indicates that the C/G polymorphism is also unlikely to play a role in either disease. However, the strength of linkage disequilibrium between these markers permitted their use for rapid screening for genomic deletions within BRCA1. A series of 214 cases with familial breast cancer were analysed using this approach; 88/214 were heterozygous for the promoter polymorphism, thereby excluding a deletion in this region. Among the remaining patients, one hemizygous case reflecting a promoter deletion was successfully identified. Therefore, this study indicates that deletions within the beta-promoter region of BRCA1 are an uncommon event in familial breast cancer. Furthermore, it suggests that mutations within the BRCA1 promoter are unlikely to account for the reported decreased expression of BRCA1 in sporadic disease. (+info)
High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history.
To determine the contribution of BRCA1 and BRCA2 mutations to the pathogenesis of male breast cancer in Hungary, the country with the highest male breast cancer mortality rates in continental Europe, a series of 18 male breast cancer patients and three patients with gynecomastia was analyzed for germ-line mutations in both BRCA1 and BRCA2. Although no germ-line BRCA1 mutation was observed, 6 of the 18 male breast cancer cases (33%) carried truncating mutations in the BRCA2 gene. Unexpectedly, none of them reported a family history for breast/ovarian cancer. Four of six truncating mutations were novel, and two mutations were recurrent. Four patients (22%) had a family history of breast/ovarian cancer in at least one first- or second-degree relative; however, no BRCA2 mutation was identified among them. No mutation was identified in either of the genes in the gynecomastias. These results provide evidence for a strong genetic component of male breast cancer in Hungary. (+info)
Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2.
PURPOSE: This study examined baseline knowledge, beliefs, and risk perceptions among a group of 200 women with breast and/or ovarian cancer who participated in a trial designed to improve decision making about genetic testing for BRCA1 and BRCA2. PATIENTS AND METHODS: Women were identified by self-referral, physician referral, and tumor registry extraction and invited to participate in a randomized trial in which testing for BRCA1 and BRCA2 was offered free of charge. Subjects completed baseline questionnaires and interviews that assessed knowledge, attitudes, and perceptions of risk of having an alteration in BRCA1 or BRCA2. RESULTS: Sixty percent of women overestimated their chances of having a BRCA1 or BRCA2 mutation compared with estimates from a BRCA1/BRCA2 risk model. Women who have at least three relatives with breast or ovarian cancer were one third (95% confidence interval, 0.2 to 0.6) as likely to overestimate their risk of having a BRCA1 or BRCA2 mutation compared with women who have two or fewer affected relatives. Knowledge was limited about BRCA1 and BRCA2 mutations and cancer risk associated with gene mutations. Eighty-four percent of the women indicated a probable or definite interest in testing. CONCLUSION: A high proportion of the high-risk women in this study had knowledge deficits about BRCA1 and BRCA2 and overestimated their risk of having a mutation. Although some degree of caution should be used in generalizing the results of this study to practice settings, the data provide insight into the challenges clinicians will face in communicating with patients about cancer genetics. (+info)
Awareness of and attitude of elderly subjects regarding health care and welfare in rapidly ageing population in Japan.
OBJECTIVES: We aimed to obtain information on the degree of knowledge and understanding about the current systems of health care and welfare held by the elderly, in order to achieve comprehensiveness in family practice. METHOD: We conducted a study on the awareness of healthy elderly persons by direct interview. The study was carried out in Kuni Village in a remote mountainous region in Japan, where the elderly population accounts for 24.8% of the total population. The subjects were self-dependent in their daily living activities and were aged 65 years and older. RESULTS: The subjects' knowledge of health care and welfare systems was generally good, and the degree of their utilization of these systems was also good. But 83.3% of those who did not want to utilize the welfare system indicated their preference to depend on their family for support. CONCLUSION: Family physicians must endeavour to offer comprehensive care to their patients by including these systems for rapidly ageing communities. (+info)