XAF1 as a modifier of p53 function and cancer susceptibility.

Cancer risk is highly variable in carriers of the common R337H founder allele, possibly due to the influence of modifier genes. Whole-genome sequencing identified a variant in the tumor suppressor (E134*/Glu134Ter/rs146752602) in a subset of R337H carriers. Haplotype-defining variants were verified in 203 patients with cancer, 582 relatives, and 42,438 newborns.

Inherited Breast Cancer in Nigerian Women.

Purpose: Among Nigerian women, breast cancer is diagnosed at later stages, is more frequently triple-negative disease, and is far more frequently fatal than in Europe or the United States. We evaluated the contribution of an inherited predisposition to breast cancer in this population.

Patients And Methods: Cases were 1,136 women with invasive breast cancer (mean age at diagnosis, 47.

Mutations in context: implications of BRCA testing in diverse populations.

Cancer is a common non-communicable disease worldwide, although it exhibits differential population trends in incidence and mortality rates. The differences relate to population structure, environmental risk factors as well as health system organization. This article discusses the potential impact of genetic testing on population health, focusing in particular on the mutational spectrum of breast cancer susceptibility genes in diverse populations.

Landscape Visual Quality and Meiofauna Biodiversity on Sandy Beaches.

Sandy beaches are central economic assets, attracting more recreational users than other coastal ecosystems. However, urbanization and landscape modification can compromise both the functional integrity and the attractiveness of beach ecosystems. Our study aimed at investigating the relationship between sandy beach artificialization and the landscape perception by the users, and between sandy beach visual attractiveness and biodiversity.

Lymphocyte subset reference intervals in blood donors from northeastern Brazil.

Unlabelled: The reference intervals for leukocytes and lymphocytes currently used by most clinical laboratories present limitations as they are primarily derived from individuals of North American and European origin. The objective this study was to determine reference values for peripheral blood B lymphocytes, T lymphocyte subsets (CD4+, CD8+, naïve, memory, regulatory, TCRαβ and TCRγδ+) and NK cells from blood donors in Salvador-Bahia, Brazil.

Results: The proportion of included male subjects was 73.

Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.

Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of the Northeast population from Brazil has never been analyzed, this study aimed to verify the frequency of mutations of clinical significance in these genes in high-risk hereditary breast and ovarian cancer (HBOC) syndrome patients from that region. DNA samples from 106 high-risk unrelated patients mostly from Bahia, the biggest state in the Northeast region, were analyzed. These patients underwent full BRCA1 gene sequencing, screening for common founder mutations in the BRCA2, CHEK2 and TP53 genes and genetic ancestry analysis with nine ancestry informative markers.

Vaccination legislation in Latin America and the Caribbean.

Governments have the authority and responsibility to ensure vaccination for all citizens. The development of vaccination legislation in Latin America and the Caribbean (LAC) parallels the emergence of sustainable, relatively autonomous, and effective national immunization programs. We reviewed vaccination legislation and related legal documents from LAC countries (excluding Canada, Puerto Rico, the United States, and the US Virgin Islands), and described and assessed vaccination legislation provisions.

Bivariate and multivariate analyses of the influence of blood variables of patients submitted to Roux-en-Y gastric bypass on the stability of erythrocyte membrane against the chaotropic action of ethanol.

The stability of the erythrocyte membrane, which is essential for the maintenance of cell functions, occurs in a critical region of fluidity, which depends largely on its composition and the composition and characteristics of the medium. As the composition of the erythrocyte membrane is influenced by several blood variables, the stability of the erythrocyte membrane must have relations with them. The present study aimed to evaluate, by bivariate and multivariate statistical analyses, the correlations and causal relationships between hematologic and biochemical variables and the stability of the erythrocyte membrane against the chaotropic action of ethanol.

[The profile of women with HIV/AIDS and their adherence to the antiretroviral therapy].

The objectives of this study were to characterize the sociodemographic and clinical profiles, health behaviors, beliefs and attitudes towards the disease and treatment of women with HIV/AIDS, outpatients of a university hospital located in the interior of São Paulo state, and to identify the factors that affect their adherence to antiretroviral therapy. The participants were 60 female outpatients of the referred service. The data were collected through semi-structured interviews.