Frequency of LCT -13910C>T single nucleotide polymorphism associated with adult-type hypolactasia/lactase persistence among Brazilians of different ethnic groups

<p>Abstract</p> <p>Background</p> <p>Adult-type hypolactasia, the physiological decline of lactase some time after weaning, was previously associated with the LCT -13910C>T polymorphism worldwide except in Africa. Lactase non-persistence is the most common phenotype in humans, except in northwestern Europe with its long history of pastoralism and milking. We had previously shown association of LCT -13910C>T polymorphism with adult-type hypolactasia in Brazilians; thus, we assessed its frequency among different Brazilian ethnic groups.</p> <p>Methods</p> <p>We investigated the ethnicity-related frequency of this polymorphism in 567 Brazilians [mean age, 42.1 ± 16.8 years; 157 (27.7%) men]; 399 (70.4%) White, 50 (8.8%) Black, 65 (11.5%) Brown, and 53 (9.3%) Japanese-Brazilian. DNA was extracted from leukocytes; LCT -13910C>T polymorphism was analyzed by PCR-restriction fragment length polymorphism.</p> <p>Results</p> <p>Prevalence of the CC genotype associated with hypolactasia was similar (57%) among White and Brown groups; however, prevalence was higher among Blacks (80%) and those of Japanese descent (100%). Only 2 (4%) Blacks had TT genotype, and 8 (16%) had the CT genotype. Assuming an association between CC genotype and hypolactasia, and CT and TT genotypes with lactase persistence, 356 (62.8%) individuals had hypolactasia and 211 (37.2%) had lactase persistence. The White and Brown groups had the same hypolactasia prevalence (~57%); nevertheless, was 80% among Black individuals and 100% among Japanese-Brazilians (<it>P </it>< 0.01).</p> <p>Conclusion</p> <p>The lactase persistence allele, LCT -13910T, was found in about 43% of both White and Brown and 20% of the Black Brazilians, but was absent among all Japanese Brazilians studied.</p

Efetividade das intervenções individual e em grupo junto a pessoas com diabetes tipo 2 1

OBJETIVO: comparar a efetividade de duas intervenções educativas, utilizadas por uma operadora de saúde, no acompanhamento ao indivíduo com diabetes mellitus Tipo 2 (DM2), quanto ao conhecimento sobre a doença, impacto na qualidade de vida e adoção de ações de autocuidado. MÉTODOS: estudo comparativo, longitudinal, prospectivo, realizado com 150 indivíduos com diabetes tipo 2, analisados conforme a modalidade de participação no programa (individual e/ou em grupo). Os participantes da intervenção individual (II) realizaram consultas de enfermagem a cada seis meses e os da intervenção em grupo (IG), reuniões semanais por três meses. Os dados foram coletados mediante quatro questionários: Questionário de identificação, Questionário de Impacto na Qualidade de Vida em Diabetes (PAID), Questionário de Autocuidado em Diabetes (QAD) e Questionário de Conhecimento do Diabetes (DKN-A). Os dados foram analisados utilizando-se o Teste de Friedman e o Teste de Mann Whitney, considerando significância estatística para p ≤ 0,05. RESULTADOS: verificou-se aumento do conhecimento sobre a doença na II (pOBJECTIVE: to compare the effectiveness of two educational interventions used by a healthcare provider in the monitoring of individuals with type 2 diabetes mellitus (T2DM), regarding knowledge of the disease, impact on quality of life and adoption of self-care actions. METHODS: comparative, longitudinal, prospective study performed with 150 subjects with type 2 diabetes, analyzed according to the type of participation in the program (individual and/or group). Participants of the individual intervention (II) received nursing consultations every six months and those of the group intervention (GI) took part in weekly meetings for three months. Data were collected through four questionnaires: Identification questionnaire, Problem Areas in Diabetes Questionnaire (PAID), Summary of Diabetes Self-Care Activities Questionnaire (SDSCA) and the Diabetes Knowledge Scale (DKN-A). Data were analyzed using the Friedman and Mann Whitney tests, considering a statistical significance of p ≤ 0.05. RESULTS: there was an increase in knowledge about the disease in the II (pOBJETIVO: comparar la efectividad de dos intervenciones educativas, utilizadas por una operadora de planes de salud, en el acompañamiento al individuo con diabetes mellitus Tipo 2 (DM2), sobre al conocimiento de la enfermedad, impacto en la calidad de vida y adopción de acciones de autocuidado. MÉTODOS: estudio comparativo, longitudinal, prospectivo, realizado con 150 individuos con diabetes tipo 2, analizados conforme la modalidad de participación en el programa (individual y/o en grupo). Los participantes de la intervención individual (II) realizaron consultas de enfermería a cada seis meses y los de intervención en grupo (IG), reuniones semanales por tres meses. Los datos fueron recolectados mediante cuatro cuestionarios: Cuestionario de identificación, Cuestionario de Impacto en la Calidad de Vida en Diabetes (PAID), Cuestionario de Autocuidado en Diabetes (CAD) y Cuestionario de Conocimiento de la Diabetes (DKN-A). Los datos fueron analizados utilizando el test de Friedman y el test de Mann Whitney, considerando significación estadística para p ≤ 0,05. RESULTADOS: se verificó aumento del conocimiento sobre la enfermedad en la II (

TRY plant trait database - enhanced coverage and open access

Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente

Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas

Summary Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (TP53, ATRX, RB1) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types

2 nd Brazilian Consensus on Chagas Disease, 2015

Abstract Chagas disease is a neglected chronic condition with a high burden of morbidity and mortality. It has considerable psychological, social, and economic impacts. The disease represents a significant public health issue in Brazil, with different regional patterns. This document presents the evidence that resulted in the Brazilian Consensus on Chagas Disease. The objective was to review and standardize strategies for diagnosis, treatment, prevention, and control of Chagas disease in the country, based on the available scientific evidence. The consensus is based on the articulation and strategic contribution of renowned Brazilian experts with knowledge and experience on various aspects of the disease. It is the result of a close collaboration between the Brazilian Society of Tropical Medicine and the Ministry of Health. It is hoped that this document will strengthen the development of integrated actions against Chagas disease in the country, focusing on epidemiology, management, comprehensive care (including families and communities), communication, information, education, and research

Plasma and cellular fibronectin: distinct and independent functions during tissue repair

Fibronectin (FN) is a ubiquitous extracellular matrix (ECM) glycoprotein that plays vital roles during tissue repair. The plasma form of FN circulates in the blood, and upon tissue injury, is incorporated into fibrin clots to exert effects on platelet function and to mediate hemostasis. Cellular FN is then synthesized and assembled by cells as they migrate into the clot to reconstitute damaged tissue. The assembly of FN into a complex three-dimensional matrix during physiological repair plays a key role not only as a structural scaffold, but also as a regulator of cell function during this stage of tissue repair. FN fibrillogenesis is a complex, stepwise process that is strictly regulated by a multitude of factors. During fibrosis, there is excessive deposition of ECM, of which FN is one of the major components. Aberrant FN-matrix assembly is a major contributing factor to the switch from normal tissue repair to misregulated fibrosis. Understanding the mechanisms involved in FN assembly and how these interplay with cellular, fibrotic and immune responses may reveal targets for the future development of therapies to regulate aberrant tissue-repair processes