Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and compared to annotations on CFTR2 and ClinVar. Sensitivity and specificity analysis was divided into modeling and validation phases using just variants annotated on CFTR2 and/or ClinVar that were not in the validation datasets of the analyzed predictors. After validation phase, MAPP and PhDSNP achieved maximum specificity but low sensitivity. Otherwise, SNAP had maximum sensitivity but null specificity. PredictSNP, PolyPhen-1, PolyPhen-2, SIFT, nsSNPAnalyzer had either low sensitivity or specificity, or both. Results showed that most predictors were not reliable when analyzing CFTR missense variants, ratifying the importance of clinical information when asserting the pathogenicity of CFTR missense variants. Our results should contribute to clarify decision making when classifying the pathogenicity of CFTR missense variants.

Os rios neotropicais sofrem os efeitos das ações humanas. Medidas conservacionistas, pela escassez de estudos na região e do conhecimento límnico, baseiam-se em dados referentes a outras regiões, sendo muitas vezes ineficazes pela inobservância das diferenças nas respostas das comunidades aquáticas às variáveis ambientais em escalas distintas. Este estudo teve como objetivos: conhecer a riqueza de insetos aquáticos em uma bacia neotropical; verificar qual a influência das variáveis ambientais na distribuição das famílias de insetos aquáticos em quatro tributários dessa bacia e observar se o padrão de distribuição das famílias de insetos aquáticos varia entre as ordens dos rios ou entre microbacias, de acordo com a influência de variáveis ambientais e espaciais. Foi encontrado um total de 9.135 indivíduos distribuídos em 26 famílias de macroinvertebrados. A estrutura das comunidades foi distinta entre as microbacias. As famílias de insetos aquáticos foram influenciadas pelas variáveis ambientais e espaciais diferentes em cada microbacia.

Neotropical rivers suffer effects of human actions. Conservation measures are based on data from other regions because few studies in this region and limnology knowledge. But it's often inability to realize differences in the environmental variables answer at different scales about aquatic communities. This study aimed: to know aquatic insects richness in a neotropical microbasin to check the environmental variables influence on the distribution of aquatic insects families in four tributaries of this microbasin and to check the rate distribution pattern of aquatic insects families between different rivers orders and different microbasins, according to environmental and spatial variables influence. We found 9,135 individuals belonging to 26 macroinvertebrates families. The communities structure were differed between microbasins. The aquatic insects families were influenced by different spatial and environmental variables in each microbasin.

Ríos neotropicales sufren los efectos de las acciones humanas. Las medidas de conservación debido a la falta de estudios en la región y de conocimiento límnico, se basan en datos de otras regiones, siendo muchas veces ineficaces por no permitir observar las diferencias en las respuestas de las comunidades acuáticas a las variables ambientales en escalas diferentes. Este estudio tuvo como objetivo: conocer la riqueza de insectos acuáticos en una cuenca neotropical, verificar la influencia de las variables ambientales en la distribución de las famílias de insectos acuáticos en cuatro afluentes de esta cuenca, y observar si el patrón de distribución de las famílias de insectos acuáticos varia entre las ordenes de los ríos y/o entre microcuencas, según la influencia de las variables ambientales y espaciales. Fueron encontrados un total de 9135 individuos distribuidos en 26 famílias de macroinvertebrados. La estructura de las comunidades fue diferente entre las microcuencas. Las famílias de insectos acuáticos fueron influenciadas por las variables ambientales y espaciales diferentes en cada microcuenca.

The objective of this work was to evaluate the host/parasite relationship of nematodes in Macrodon ancylodon. Ninety seven fishes (50 in wet season and 47 in dry season) were weighed (167.1 ± 109.9g) and measured (28.3 ± 5.2cm). Only twelve specimens were not infected by any parasites and the prevalence of infection was 87.6%. The highest prevalence values were observed in August and September (dry season, 100%). The stomach was the most infected organ during the whole months (prevalence of 64.2%, and mean intensity of 4.6±7.8 parasites/fish), and the medium intestine showed the lowest infection (prevalence 27.3% and mean intensity 2.5±2.1 parasites/fish). The nematodes were identified as Raphidascaris sp., Goezia sp. and Cucullanus sp. Only the male and juvenile fishes could be presented different values of infection according to rainfall, being more infected in August to October. The female hosts presented higher values of abundance and mean intensity of infection (p<0.01) throughout the year.

INTRODUÇÃO: A atividade física proporciona benefícios sobre o sistema neurológico, em particular, sobre as deficiências motoras e de equilíbrio, sendo estes déficits importantes em indivíduos com sequelas após acidente vascular encefálico (AVE). OBJETIVO: Avaliar a relação existente entre o equilíbrio e nível de confiança no equilíbrio com o nível de atividade física e com a qualidade de vida (QV) de indivíduos com hemiparesia após AVE. Método: Participaram 19 indivíduos (57,8 ± 14,1 anos) com hemiparesia crônica (44,1 ± 37,9 meses). Avaliou-se o perfil de atividade humana (PAH), o nível de confiança no equilíbrio (ABC), o equilíbrio funcional (BERG) e a QV (EQVEAVE). Os dados foram submetidos ao teste de coeficiente de correlação de Spearman. RESULTADOS: O PAH ajustado apresentou uma correlação positiva forte para o BERG (ρ = 0,73) e uma correlação positiva moderada para o ABC (ρ = 0,64). A QV (total) e os domínios de papéis familiares e mobilidade da EQVE-AVE apresentaram correlações moderadas para BERG e ABC (ρ entre 0,53 e 0,67). O PAH total e ajustado apresentaram correlação positiva moderada com os domínios mobilidade (respectivamente, ρ = 0,48 e ρ = 0,71), autocuidado (ρ = 0,48 e ρ = 0,65), função do membro superior (ρ = 0,56 para ambos) e visão (ρ = 0,49 e ρ = 0,69). CONCLUSÃO: Sugere-se que quanto mais ativo o indivíduo se apresenta melhor será seu equilíbrio e sua confiança no equilibrar-se, tanto na realização das atividades de vida diária (AVDs) como também nas atividades físicas, com um impacto positivo na sua QV. Diante disto, é de extrema importância o desenvolvimento de programas de atividade física voltados para indivíduos com hemiparesia após AVE.

INTRODUCTION: Physical activity brings benefits to the neurological system, especially to motor and balance impairment, which are important deficits in individuals with sequels after a stroke. OBJECTIVE: To assess the correlation between the level of physical activity and balance in the quality of life of individuals with hemiparesis after a stroke. Method: 19 individuals (57.8 ± 14.1 years old) with chronic hemiparesis (44.1 ± 37.9 months) were involved in this study. The study evaluated the human activity profile (HAP), the balance confidence level (ABC), the functional balance (BERG) and quality of life (SSQOL). Data were submitted to analysis of Spearman's correlation coefficient. RESULTS: HAP presented a positive strong correlation with the scores of functional balance (BERG; ρ = 0.73) and a moderated positive correlation with the scores of balance confidence (ABC; ρ = 0.64). Total HAP and the HAP set showed moderate positive correlation with the mobility (respectively ρ = 0.48 and ρ = 0.71), self-care (ρ = 0.48 and ρ = 0.65), upper limb function (ρ = 0.56 for both) and vision (ρ = 0.49 and ρ = 0.69) domains. Quality of life and the family roles and mobility domains showed moderate correlations with both functional and balance with balance confidence. CONCLUSION: The results of this study suggest that the more active the person is, the greater his/her balance and quality of life will be. Considering this, the development of physical activity programs for individuals with hemiparesis after strokes becomes extremely important.