Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia

Purpose: Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (orthodenticle homeobox 2 [OTX2], retina and anterior neural fold homeobox [RAX], SRY-box 2 [SOX2], CEH10 homeodomain-containing homolog [CHX10], and growth differentiation factor 6 [GDF6]) have been implicated mainly in isolated micro/anophthalmia but causative mutations of these genes explain less than a quarter of these developmental defects. The essential role of the LIM homeobox 2 (LHX2) transcription factor in early eye development has recently been documented. We postulated that mutations in this gene could lead to micro/anophthalmia, and thus performed molecular screening of its sequence in patients having micro/anophthalmia. Methods: Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations. Mutation screening of LHX2 was performed by direct sequencing of the coding sequences and intron/exon boundaries. Results: Two heterozygous variants of unknown significance (c.128C > G [p.Pro43Arg]; c.776C > A [p.Pro259Gln]) were identified in LHX2 among the 70 patients. These variations were not identified in a panel of 100 control patients of mixed origins. The variation c.776C > A (p.Pro259Gln) was considered as non pathogenic by in silico analysis, while the variation c.128C > G (p.Pro43Arg) considered as deleterious by in silico analysis and was inherited from the asymptomatic father. Conclusions: Mutations in LHX2 do not represent a frequent cause of micro/anophthalmia

Diversity from genes to ecosystems : a unifying framework to study variation across biological metrics and scales

This work was assisted through participation in “Next Generation Genetic Monitoring” Investigative Workshop at the National Institute for Mathematical and Biological Synthesis, sponsored by the National Science Foundation through NSF Award #DBI-1300426, with additional support from The University of Tennessee, Knoxville. Hawaiian fish community data were provided by the NOAA Pacific Islands Fisheries Science Center's Coral Reef Ecosystem Division (CRED) with funding from NOAA Coral Reef Conservation Program. O.E.G. was supported by the Marine Alliance for Science and Technology for Scotland (MASTS). A. C. and C. H. C. were supported by the Ministry of Science and Technology, Taiwan. P.P.-N. was supported by a Canada Research Chair in Spatial Modelling and Biodiversity. K.A.S. was supported by National Science Foundation (BioOCE Award Number 1260169) and the National Center for Ecological Analysis and Synthesis. All data used in this manuscript are available in DRYAD (https://doi.org/dx.doi.org/10.5061/dryad.qm288) and BCO-DMO (http://www.bco-dmo.org/project/552879).Biological diversity is a key concept in the life sciences and plays a fundamental role in many ecological and evolutionary processes. Although biodiversity is inherently a hierarchical concept covering different levels of organisation (genes, population, species, ecological communities and ecosystems), a diversity index that behaves consistently across these different levels has so far been lacking, hindering the development of truly integrative biodiversity studies. To fill this important knowledge gap we present a unifying framework for the measurement of biodiversity across hierarchical levels of organisation. Our weighted, information-based decomposition framework is based on a Hill number of order q = 1, which weights all elements in proportion to their frequency and leads to diversity measures based on Shannon’s entropy. We investigated the numerical behaviour of our approach with simulations and showed that it can accurately describe complex spatial hierarchical structures. To demonstrate the intuitive and straightforward interpretation of our diversity measures in terms of effective number of components (alleles, species, etc.) we applied the framework to a real dataset on coral reef biodiversity. We expect our framework will have multiple applications covering the fields of conservation biology, community genetics, and eco-evolutionary dynamics.Publisher PDFPeer reviewe

Adaptação e evidências de validade do Traumatic Grief Inventory para o Brasil

The aim of the this study was to verify the evidence of validity of the reduced version adapted for Brazilian Portuguese of the Traumatic Grief Inventory, through confirmatory factor analysis and relationship with external variables, in addition to assessing the reliability and presence of invariance. The first step consisted of the adaptation and evaluation by expert judges of the translated version. After the evaluation, the pilot version was answered by five participants of the target population, for semantic and content evaluation, being named, in Brazil, as the Inventário de Luto Traumático (ILT-BR). Then, 211 Brazilians, who went through a grieving process, answered the following instruments: Sociodemographic Questionnaire, Mental Health Self-Perception Questionnaire, and ILT-BR. The ILT-BR presented good fit indexes and reliability, positively correlated with stress, fear, and obsessive thoughts, with no invariance found. From these results, we concluded that the ILT-BR is suitable for use in Brazil.El objetivo de este estudio fue verificar la evidencia de validez de la versión reducida adaptada al portugués brasileño del Traumatic Grief Inventory (Inventario de Duelo Traumático), mediante un análisis factorial confirmatorio y la relación con variables externas, además de evaluar la precisión y presencia de invarianza. El primer paso fue la adaptación y evaluación por jueces expertos de la versión traducida. Después de la evaluación, se aplicó la versión piloto a cinco participantes de la población objetivo para la evaluación semántica y de contenido, denominándose Inventario de Luto Traumático (ILT-BR). Luego, 211 brasileños, que pasaron por un proceso de duelo, respondieron los siguientes instrumentos: Cuestionario Sociodemográfico, Cuestionario de Autopercepción de Salud Mental e ILT-BR. El ILT-BR mostró buenos índices de ajuste y precisión, correlacionándose positivamente con el estrés, el miedo y los pensamientos obsesivos, sin encontrar variación entre grupos. A partir de estos resultados, se concluye que el ILT-BR posee propiedades psicométricas adecuadas para su uso en Brasil.O objetivo do presente estudo foi verificar as evidências de validade da versão reduzida adaptada para o português do Brasil do Traumatic Grief Inventory, por meio de uma análise fatorial confirmatória e relação com variáveis externas, além de aferir a precisão e presença de invariância. A primeira etapa consistiu na adaptação e avaliação por juízes especialistas da versão traduzida. Após a avaliação, a versão piloto foi aplicada em cinco participantes da população-alvo para avaliação semântica e de conteúdo, sendo nomeado de Inventário de Luto Traumático (ILT-BR). Em seguida, 211 brasileiros, que passaram por um processo de luto, responderam aos seguintes instrumentos: Questionário Sociodemográfico, Questionário de Autopercepção de Saúde Mental e ILT-BR. O ILT-BR apresentou bons índices de ajuste e precisão, se correlacionando positivamente com estresse, medo e pensamentos obsessivos, sem variação entre grupos. A partir destes resultados, conclui-se que há evidências de que o ILT-BR apresenta boas propriedades psicométricas

Limiting global-mean temperature increase to 1.5-2°C could reduce the incidence and spatial spread of dengue fever in Latin America

The Paris Climate Agreement aims to hold global-mean temperature well below 2°C and to pursue efforts to limit it to 1.5°C above preindustrial levels. Whilst it is recognized that there are benefits for human health in limiting global warming to 1.5°C, the magnitude with which those societal benefits will be accrued remains unquantified. Crucial to public health preparedness and response is the understanding and quantification of such impacts at different levels of warming. Using dengue in Latin America as a study case, a climatedriven dengue generalized additive mixed model was developed to predict global warming impacts using five different global circulation models, all scaled to represent multiple global-mean temperature assumptions. We show that policies to limit global warming to 2°C could reduce dengue cases by about 2.8 (0.8–7.4) million cases per year by the end of the century compared with a no-policy scenario that warms by 3.7°C. Limiting warming further to 1.5°C, produces an additional drop in cases of about 0.5 (0.2–1.1) million per year. Furthermore, we found that by limiting global warming we can limit the expansion of the disease towards areas where incidence is currently low. We anticipate our study to be a starting point for more comprehensive studies incorporating socioeconomic scenarios and how they may further impact dengue incidence. Our results demonstrate that although future climate change may amplify dengue transmission in the region, impacts may be avoided by constraining the level of warming

KETAMINA NO MANEJO FARMACOLÓGICO AGUDO DA IDEAÇÃO SUICIDA

ABSTRACT Objective: Suicide ideation is the most often psychiatric emergency found in the emergency context. However, because of the complex interaction between their risk factors, patient discomfort in addressing the issue, clinical individuality of episodes and deficits in pharmacological interventions, there are few protocols that provide algorithms for the management of the entity. Although the efficacy of Ketamine in the management of depression has recently been demonstrated, little is known about its efficacy in managing suicidal ideation. In this review, were evaluated clinical trials that discussed the use of ketamine in the acute treatment of suicidal ideation associated or not with depressive disorders, in order to determine if the use of the drug is safe and effective in the management of this psychiatric emergency. Data sources: Searches were performed in PubMed, SciELO, Web of Science, Bireme and Scopus databases with the MeSH terms "Ketamine" and "Suicide ideation". Data synthesis:  After selection of randomized clinical trials and exclusion of duplicates, 10 studies were included in this review.  Conclusions: Studies have shown that ketamine is a fast-acting drug and possibly sustained in suicidal ideation, as well as mild and self-limiting adverse effects. However, such results should be replicated in a larger number of patients, especially regarding the use of maintenance doses.Objetivo: A ideação suicida é a emergência psiquiátrica mais frequentemente encontrada no contexto emergencial. Entretanto, devido à complexa interação entre seus fatores de risco, desconforto do paciente em abordar a temática, individualidade clínica dos episódios e déficit de intervenções farmacológicas eficazes, são escassos os protocolos que forneçam algoritmos para o manejo da entidade. Apesar de recentemente ter sido demonstrada a eficácia do uso de Ketamina no manejo da depressão, pouco se sabe sobre sua eficácia no manejo da ideação suicida. Nesta revisão foram avaliados ensaios clínicos que versam sobre o uso da ketamina no tratamento agudo da ideação suicida associada ou não a transtornos depressivos, de forma a determinar se o uso do fármaco é seguro e eficaz no manejo dessa emergência psiquiátrica. Fontes de dados: Foram realizadas buscas nas bases de dados PubMed, SciELO, Web of Science, Bireme e Scopus com os termos MeSH “Ketamine” e “Suicide ideation”. Síntese dos dados: Após a seleção, sem limites temporais, de ensaios clínicos randomizados e exclusão das duplicatas, foram incluídos 10 estudos nesta revisão. Conclusões: Os trabalhos demonstraram que a Ketamina é um fármaco de ação rápida e possivelmente sustentada na ideação suicida, bem como de efeitos adversos leves e auto-limitados. Entretanto, tais resultados devem ser reproduzidos em um maior número de pacientes, principalmente no que diz respeito ao uso de doses de manutenção

Age-related differences in integrin expression in peripheral blood lymphocytes

Alpha integrins play an important role in cell to cell and cell to extra-cellular matrix interactions required for an effective T-lymphocyte-mediated immune response, however little is known about age related differences in expression of alpha integrins on T-cells in humans. We here measured alpha-4 (α4) integrin (CD49d) expression on T-lymphocytes via peripheral blood sampling, comparing parameters between cohorts of young and old adults. No age-related differences were found for the absolute numbers of T-cells, although the percentage of CD4+ T-cells in older adults was significantly greater and the percentage of CD8+ T-cells lower than in younger cohorts. Percentage and absolute numbers of CD3+ T-cells co-expressing CD49d were significantly lower in older adults compared to younger cohorts, and the percentage of gated CD4+ and CD8+ cells that co-labelled positively for CD49d was also reduced in this group. There were no age-related differences in circulating levels of cytokines (Type I interferons) that are known to regulate cell surface integrin expression. Reduced expression of alpha integrins on T-cells may be an early indicator of the loss of homeostatic control that occurs with ageing, contributing to diminished effector T-cell responses during senescence

ACESSO À REDE DE ATENÇÃO A GESTAÇÃO, PARTO E NASCIMENTO NA PERSPECTIVA DAS USUÁRIAS

Analisam-se as facilidades e as barreiras de acesso das mulheres usuárias do SUS-DF aos serviços de pré-natal e de parto na Rede de Atenção Materna e Infantil em uma Região de Saúde. Objetivos: Mapear o fluxo assistencial das mulheres nos serviços de pré-natal e parto da Região Sudoeste de Saúde; analisar as potencialidades e as limitações de acesso das gestantes egressas das duas maternidades locais. Método: Pesquisa descritiva e exploratória de abordagem qualitativa. Entrevista com 30 mulheres na fase puerperal. Análise estatística descritiva, análise de conteúdo e aplicação do fluxograma analisador. Resultados: As mulheres realizaram seis ou mais consultas de pré-natal e os exames de rastreamento de risco. Poucas são orientadas sobre o local onde vão parir e o início do trabalho de parto. O deslocamento até a maternidade é precário e ocorre peregrinação antes do parto. Há desarticulação entre os pontos de atenção, deficiências na qualidade da atenção ao parto e práticas profissionais sem consonância com as recomendações internacionais. Conclusão: O acesso das mulheres é facilitado para os serviços de pré-natal, mas elas enfrentam dificuldades no recebimento de exames, na vinculação aos serviços e na atenção recebida no momento do parto

Multitaxonomic Diversity Patterns along a Desert Riparian–Upland Gradient

Riparian areas are noted for their high biodiversity, but this has rarely been tested across a wide range of taxonomic groups. We set out to describe species richness, species abundance, and community similarity patterns for 11 taxonomic groups (forbs & grasses, shrubs, trees, solpugids, spiders, scarab beetles, butterflies, lizards, birds, rodents, and mammalian carnivores) individually and for all groups combined along a riparian–upland gradient in semiarid southeastern Arizona, USA. Additionally, we assessed whether biological characteristics could explain variation in diversity along the gradient using five traits (trophic level, body size, life span, thermoregulatory mechanism, and taxonomic affiliation). At the level of individual groups diversity patterns varied along the gradient, with some having greater richness and/or abundance in riparian zones whereas others were more diverse and/or abundant in upland zones. Across all taxa combined, riparian zones contained significantly more species than the uplands. Community similarity between riparian and upland zones was low, and beta diversity was significantly greater than expected for most taxonomic groups, though biological traits explained little variance in diversity along the gradient. These results indicate heterogeneity amongst taxa in how they respond to the factors that structure ecological communities in riparian landscapes. Nevertheless, across taxonomic groups the overall pattern is one of greater species richness and abundance in riparian zones, coupled with a distinct suite of species