Multicentric genome-wide association study for primary spontaneous pneumothorax

Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22–2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08–2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29–2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.

Sistema de referenciação geográfica

Nos dias de hoje o acesso à informação por parte das empresas é vital para o bom desempenho das suas funções. As empresas de telecomunicações não fogem à regra, a sua posição no mercado está dependente das decisões que são tomadas com base na avaliação dessa informação. Para suportar os processos de apoio à decisão é coerente recorrer-se a Data Warehouses que permitem integrar informação de diversas fontes, verificando a sua qualidade, actualização e coerência, organizando-a para um fácil acesso e consulta de vários pontos de vista. Numa empresa de telecomunicações móvel, um Data Mart geográfico baseado na informação de tráfego da companhia que pode identificar as localizações preferenciais dos utilizadores na rede é muito importante porque fornece indicadores muito úteis para o departamento de marketing e negócio da empresa de maneira a que se saiba onde e como actuar para permitir que esta se desenvolva e ganhe vantagem no mercado. ABSTRACT: Today the access to information by enterprises is vital for the company’s performance. Telecommunications companies are no exception. Their position in the market is dependent on the decisions that are taken based on the evaluation of such information. To support the decision making process Data Warehouse is today an extremely useful tool; it integrates information from different sources, checking on its validity, quality and update, coherence, organizing it for an easy access and search from various perspectives. ln a mobile telecommunications company a geographical Data Mart-based traffic information that can identify the preferential locations of users on the network is very important It provides useful indicators to the Department of Marketing and Business there by allowing you to know where and how to act and boosting the development of the company.

Variability and trends of downward surface global solar radiation over the Iberian Peninsula based on ERA-40 reanalysis

A climate study of the incidence of downward surface global solar radiation (SSRD) in the Iberian Peninsula (IP) based primarily on ERA-40 reanalysis is presented. NCEP/NCAR reanalysis and ground-based records from several Portuguese and Spanish stations have been also considered. The results showthat reanalysis can capture a similar inter-annual variability as compared to ground-based observations, especially on a monthly basis, even though annual ERA-40 (NCEP/NCAR) values tend to underestimate (overestimate) the observations with a mean relative difference of around 20Wm–2 (40Wm–2). On the other hand, ground-based measurements in Portuguese stations during the period 1964–1989 show a tendency to decrease until the mid-1970s followed by an increase up to the end of the study period, in line with the dimming/brightening phenomenon reported in the literature. Nevertheless, there are different temporal behaviours as a greater increase since the 1970s is observed in the south and less industrialized regions. Similarly, the ERA-40 reanalysis shows a noticeable decrease until the early 1970s followed by a slight increase up to the end of the 1990s, suggesting a dimming/brightening transition around the early 1970s, earlier in the south and centre and later in the north of the IP. Although there are slight differences in the magnitude of the trends as well as the turning year of the dimming/brightening periods, the decadal changes of ERA-40 fairly agree with the ground-based observations in Portugal and Spain, in contrast to most of the literature for other regions of the world, and is used in the climatology of the SSRD in the study area. NCEP/NCAR reanalysis does not capture the decadal variations of SSRD in the IP. The results show that part of the decadal variability of the global radiation in the IP is related to changes in cloud cover (represented in ERA-40).