BackgroundFabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme α-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females. However, heterozygous females usually present a milder phenotype with a later onset and a slower progression.MethodsA combined enzymatic and genetic strategy was used, measuring the activity of α-galactosidase A and genotyping the α-galactosidase A gene (GLA) in dried blood samples (DBS) of 911 patients undergoing haemodialysis in centers across Spain.ResultsGLA alterations were found in seven unrelated patients (4 males and 3 females). Two novel mutations (p.Gly346AlafsX347 and p.Val199GlyfsX203) were identified as well as a previously described mutation, R118C. The R118C mutation was present in 60% of unrelated patients with GLA causal mutations. The D313Y alteration, considered by some authors as a pseudo-deficiency allele, was also found in two out of seven patients.ConclusionsExcluding the controversial D313Y alteration, FD presents a frequency of one in 182 individuals (0.55%) within this population of males and females undergoing haemodialysis. Moreover, our findings suggest that a number of patients with unexplained and atypical symptoms of renal disease may have FD. Screening programmes for FD in populations of individuals presenting severe kidney dysfunction, cardiac alterations or cerebrovascular disease may lead to the diagnosis of FD in those patients, the study of their families and eventually the implementation of a specific therapy.

Abstract:The Weather Research and Forecasting (WRF) model has been successfully used in weather prediction, but its ability to simulate precipitation over areas with complex topography is not optimal. Consequently, WRF has problems forecasting rainfall events over Chilean mountainous terrain and foothills, where some of the main cities are located, and where intense rainfall occurs due to cutoff lows. This work analyzes an ensemble of microphysics schemes to enhance initial forecasts made by the Chilean Weather Agency in the front range of Santiago. We first tested different vertical levels resolution, land use and land surface models, as well as meteorological forcing (GFS/FNL). The final ensemble configuration considered three microphysics schemes and lead times over three rainfall events between 2015 and 2017. Cutoff low complex meteorological characteristics impede the temporal simulation of rainfall properties. With three days of lead time, WRF properly forecasts the rainiest N-hours and temperatures during the event, although more accuracy is obtained when the rainfall is caused by a meteorological frontal system. Finally, the WSM6 microphysics option had the best performance, although further analysis using other storms and locations in the area are needed to strengthen this result.

Multiple paternity within litters occurs in various groups of mammals exhibiting different mating systems. Using seven genetic markers (i.e., microsatellites), we investigated the paternity of littermates in free-ranging wild boar (Sus scrofa) in a Mediterranean habitat. Using the software CERVUS 2.0 we estimated the probability of detecting multiple paternity across all loci (D), the probability of paternity (W) and a statistic D that allows the assignment of paternity to the most likely male with strict and relaxed levels of confidence. Multiple paternity was inferred for one of the nine analysed litters at the 80% confidence level. This suggests that a single male may control the access to receptive adult females and it shows that multiple paternity is not very common in the studied free-ranging wild boar population. Despite the possible occurrence of sperm competition and/or female cryptic choice, mate guarding seems to play a significant role in sexual selection. To better understand the wild boar's mating strategies further studies analysing the reproductive success of both sexes and under different environmental conditions should be conducted.

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CapsuleAn unprecedented tornado outbreak occurred in Southern Chile, with at least seven tornadoes reported over a period of 24 hours, causing substantial damage, dozens of injuries, and one fatality.