Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

Background: Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome. Methods: Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed. Results: Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of >= 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson). Conclusions: The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models.

A Note on Large Deviations for the Stable Marriage of Poisson and Lebesgue with Random Appetites

Let IaS,a"e (d) be a set of centers chosen according to a Poisson point process in a"e (d) . Let psi be an allocation of a"e (d) to I in the sense of the Gale-Shapley marriage problem, with the additional feature that every center xi aI has an appetite given by a nonnegative random variable alpha. Generalizing some previous results, we study large deviations for the distance of a typical point xaa"e (d) to its center psi(x)aI, subject to some restrictions on the moments of alpha.

Physical activity counseling in primary health care in Brazil: a national study on prevalence and associated factors

Abstract Background The aim of this study was to determine the prevalence and correlates of physical activity counseling among physicians and nurses working in primary health care in Brazil. Methods A phone survey was carried out in 2011 with professionals working in primary health care in Brazil. The target sample consisted of 1,600 randomly selected primary care units covering all regions of the country. We successfully interviewed 529 professionals within the sampled units; 182 physicians and 347 nurses. The overall response rate was 49.6%. Multivariable logistic regression was used to estimate correlates of counseling in the whole sample and separately for physicians and nurses. Results The prevalence of regular physical activity counseling for at least six months was 68.9% (95% CI 64.9; 72.8) and was significantly higher among physicians compared to nurses (p < 0.05). Most professionals (93.2%) interviewed were unfamiliar with current physical activity recommendations for health. In the adjusted analysis, physical activity counseling was more frequent among those who report assessing patient’s physical activity (OR = 2.16; 95% CI 1.41; 3.29), those reporting that lack of time was not a barrier for counseling (OR = 0.62 95% CI 0.42-0.93), those who felt prepared to provide physical activity counseling (OR = 2.34; 95% CI 1.50-3.66), and those working at primary care units offering physical activity programs for patients (OR = 2.06; 95% CI 1.33-3.20). In the stratified analysis, only assessing patient’s physical activity was a significant correlate among physicians whereas assessing patient’s physical activity, feeling prepared to provide counseling and working in units with physical activity interventions were significant correlates among nurses. Conclusions Physicians and nurses deemed physical activity counseling of great importance in primary health care in Brazil. However, in order to increase the quality of counseling and the number of professionals engaging in this activity, these health teams require greater knowledge about physical activity (global recommendations for health) as well as training on the application of instruments for assessing physical activity. Moreover, sufficient time must be allowed during consultations for the counseling process, and physical activity promotion programs should be implemented within the primary health care units.

"Talking about Marriage ..." : Polizeiarbeit in Upper West, Ghana /// Arbeitspapiere / Institut für Ethnologie und Afrikastudien ; 102

Polizei in Afrika ist korrupt und schlecht ausgebildet und eine „Marionette“ der Regierungen − so das nicht nur im populären, sondern auch sozialwissenschaftlichen Diskurs vermittelte Bild. Eine ethnographische Perspektive, die Polizeiarbeit im Alltag beobachtet und auf die Interaktionsstrategien der Polizisten mit Klienten und ihre Deutungen und Selbstbilder fokussiert, erlaubt neue Einsichten in das alltägliche Funktionieren der Organisation. Die vorliegende Arbeit basiert auf einem dreimonatigen Aufenthalt in der domestic violence unit der Police Headquarters in der Upper West Region Ghanas. Sie zeigt unter anderem, wie die Akteure die Ausbildung zum Polizisten, Gehaltsfragen, Versetzungen, Geschlechterverhältnis und Beförderungen konzeptionalisieren und wo sie sich in ihrer Arbeitswelt positionieren. Die besondere Aufmerksamkeit der Arbeit gilt der Interaktion der Polizisten mit Akteuren außerhalb ihrer Organisation, den „Klienten“. Eine zentrale Erkenntnis ist, dass die Klienten erst mit Hilfe typischer bürokratischer Praktiken und Redensarten als solche von den Polizisten konstruiert werden. Dabei sind die Klienten aber weder passiv polizeilicher Willkür ausgeliefert noch können einflussreiche Klienten die Polizei nach ihrem Gusto manipulieren. In zwei Fallstudien von Verhandlungssituationen wird deutlich, wie Polizisten Autorität in der Interaktion mit Klienten herstellen und legitimieren und welche Maßnahmen Klienten ihrerseits ergreifen, um die Situation zu ihren Gunsten zu gestalten.

Life Transitions and Aging: Implications for Counseling Older Adults

Presents a conceptual framework for counseling older adults and their families, asserting that the pace of development varies across individuals and that within the same individual, different biological and psychological functions age at different rates. The normative changes of aging can be viewed as life-event/life-transition processes and categorized into 4 interrelated major areas: biological, psychological, environmental, and social/cultural. The counselor's tasks include assisting the older client in differentiating the normal aging process from abnormal processes, assessing the role of self-labeling and stereotyping, and focusing on preventive work with older adults and their families.

Evaluating Counseling Outcomes

Defines the range of interventions considered under the rubric of counseling for the elderly. Uses evaluation of treatments for depression among the elderly to exemplify the current state of outcome-evaluation research.

Does Mental Illness Affect Consumer Direction of Community-Based Care? Lessons From the Arkansas Cash and Counseling Program

Purpose: Previous research from the Cash and Counseling Demonstration and Evaluation (CCDE) in Arkansas, New Jersey, and Florida suggests that giving consumers control over their personal care greatly increases their satisfaction and improves their outlook on life. Still, some argue that consumerdirected care may not be appropriate for consumers with intellectual disabilities or mental health diagnoses. This study examined how Cash and Counseling— a new option allowing consumers to manage an individualized budget equivalent to what agencies would have spent on their care—changes the way consumers with mental health diagnoses meet their personal care needs and how that affects their wellbeing. Design and Methods: Using the Arkansas CCDE baseline and the 9-month follow-up data for individuals in the treatment and control groups, we compared and contrasted the experience of elderly consumers with and without mental health diagnoses utilizing logit regression. Results: After examining several outcome measures, including satisfaction with care arrangements and the paid caregiver’s reliability and schedule, unmet needs, and satisfaction with the relationship with paid caregivers, this study found evidence that, from the perspective of consumers, the Cash and Counseling program works well for participants with mental health diagnoses. Implications: Considering the growing need for long-term-care services and the limited resources available, a consumer-directed option makes sense, and it can be a valuable alternative for persons with mental health needs.

Transnational Marriage: Modern Imaginings, Relational Realignments, and Persistent Inequalities

In the context of shifting cultural anchors as well as unstable global economic conditions, new practices of intimacy and sexuality may become tactics in an individual’s negotiation of conflicting desires and potentials. This article offers reflection on the interface between global forces, powerful transcultural narratives, and state policies, on the one hand, and local, even individual, constructions and tactics in regard to sexuality, marriage, migration, and work, on the other. The article focuses on the life trajectory of Gudiya, an ambitious young Hindu woman who started out life with little social capital and few economic resources in a dusty corner of what was then the tiny kingdom of Nepal. Gudiya’s story highlights the ways in which she has engaged in relational realignments aimed at bringing her closer to the life she imagines, even as she has encountered new and persistent forms of inequality both local and transnational in scale.