Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (ATXN3)

Machado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ages at onset in patients displaying similar CAG repeat sizes. Variation in 5′ regulatory regions of the ATXN3 gene may have the potential to influence expression levels and, ultimately, modulate the MJD phenotype. The main goal of this work was to analyze the extent of sequence variation upstream of the ATXN3 start codon. A fragment containing the core promoter and the 5′ untranslated region (UTR) was sequenced and analyzed in 186 patients and 59 controls (490 chromosomes). In the core promoter, no polymorphisms were observed. In the 5′ UTR, only one SNP (rs3814834) was found, but no improvements on the explanation of onset variance were observed, when adding its allelic state in a linear model. Accordingly, in silico analysis predicted that this SNP lays in a nonconserved position for CMYB binding. Therefore, no functional effect could be predicted for this variant.Institute of Biotechnology and Biomedicine of the Azores - “High Prevalence Diseases in the Azores Islands” M2.1.2/I/026/2008,Fundação para a Ciência e a Tecnologia (FCT) - “Transcriptional variation of the ATXN3 gene as modulator of the clinical heterogeneity in Machado–Joseph disease (MJD)Secretaria Regional da Ciência, Tecnologia e Equipamentos - M3.1.3/F/004/2009CNP

European Respiratory Society International Congress, Barcelona, 2022: Highlights from the Respiratory clinical care and physiology assembly

It is a challenge to keep abreast of all the clinical and scientific advances in the field of respiratory medicine. This article contains an overview of laboratory-based science, clinical trials and qualitative research that were presented during the 2022 European Respiratory Society International Congress within the sessions from the five groups of the Assembly 1 – Respiratory clinical care and physiology. Selected presentations are summarised from a wide range of topics: clinical problems, rehabilitation and chronic care, general practice and primary care, electronic/mobile health (e-health/m-health), clinical respiratory physiology, exercise and functional imaging

Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

Avaliação da eficiência térmica de telha reciclada à base de embalagens longa vida Evaluation of the thermal efficiency of roof tiles made of recycled long-life packaging

Neste trabalho se apresenta o estudo da influência de telha reciclada à base de embalagens longa vida (IBAPLAC®) no conforto térmico de instalações zootécnicas. A pesquisa foi desenvolvida no Campus Experimental da Unesp de Dracena, SP. Foram construídos quatro protótipos, com área de 28 m² cada um, sendo um deles coberto com telha reciclada à base de embalagens longa vida e três protótipos de referência cobertos com telha cerâmica, telha cerâmica pintada de branco e telha de fibrocimento (Brasilit®). Dentro dos protótipos foram instalados termômetros de globo negro e termômetros de bulbo seco e bulbo úmido. Os dados foram coletados no verão de 2006/2007, totalizando 90 dias. Uma análise estatística por inferência e descritiva foi realizada utilizando-se valores médios de índice de temperatura de globo e umidade, carga térmica radiante e índice de temperatura e umidade, referente ao período. Pelos resultados obtidos é possível afirmar que a telha reciclada apresentou índices de conforto térmico semelhantes àqueles encontrados para as telhas cerâmicas, podendo ser indicada como opção de cobertura para instalações zootécnicas.<br>This paper presents a study of the influence of roof tiles made of recycled long-life packaging (brand-name IBAPLAC®) on the thermal comfort of zootechnical facilities. The research was conducted at UNESP's Experimental Campus at Dracena, State of São Paulo, Brazil. Four prototypes were built, each with an area of 28 m². One prototype was covered with roof tiles made of recycled long-life packing material and three reference prototypes were roofed with ceramic tiles, ceramic tiles painted white and fiber/cement tiles (Brasilit®), respectively. Black globe thermometers and dry and wet bulb thermometers were installed inside the prototypes. Temperatures inside the structures were recorded in the Summer of 2006/2007 over a 90-day period. A descriptive statistical analysis was made, based on the mean values of black globe temperature and humidity index, radiant thermal load and temperature-humidity index of the period. The results obtained indicated that the thermal behavior of the recycled tile was similar to that of the ceramic tiles

Análise comparativa do ambiente de aviários de postura com diferentes sistemas de acondicionamento Comparative analysis of the environment of poultry sheds with different systems of acclimatization

As tipologias dos galpões de galinhas poedeiras e os materiais utilizados principalmente na cobertura são determinantes para uma condição térmica apropriada com vistas à produção. Neste contexto, o objetivo deste trabalho foi identificar diferenças no ambiente interno de dois galpões de poedeiras, utilizando monitoramento e posterior comparação estatística das variáveis do ambiente. A análise dos dados não evidenciou maior conforto térmico no galpão recoberto com telhas de barro, em razão da ausência de lanternim que dificultou a renovação do ar por "efeito chaminé". A concentração de amônia medida no interior de ambas as instalações ficou dentro do limite de conforto. O índice de temperatura e umidade do galpão recoberto com telhas de cerâmica apresentou valores maiores que do galpão recoberto com telha de cimento amianto, mesmo se verificando temperaturas de superfície menores nas telhas de cerâmica, evidenciando os efeitos positivos do lanternim na instalação. Com base nos resultados desta pesquisa, recomendam-se, para a região de Bastos, SP, que os aviários para galinhas de postura sejam construídos com lanternim e prolongamento do beiral e que sejam recobertos com telhas de cerâmica.<br>Poulty house typology and the materials used (mainly for roofing) are the determining factors for an appropriate thermal condition aiming at production. In this context, the main point of this paper was to identify differences in the internal environment of two poultry houses, using monitoring and afterwards using statistics for comparing the environmental variables. The data analyzed did not show evidence of better thermal comfort for the house which was covered with ceramic roofing tile, because this house did not have ridged vents, making the hot air exit from the house difficult by the "chimney effect". The ammonia concentration measured inside both houses was within the comfort limit. The temperature and humidity index of the house covered with ceramic roofing tiles was higher than the house which was covered with cement asbestos roofing tile, even though lower temperature on the tiles' surfaces was verified, showing the positive effects of the use of ridge vents at the housing. Based on the results obtained it is recommended for the Bastos, SP region, that poulty houses should be built with the ridge vent and long eaves beyond the roof of ceramic tiles