Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus

Background : Thrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors involved in thrombosis development among aPLA carriers. Methods: To identify new loci conferring susceptibility to thrombotic antiphospholipid syndrome, a two-stage genotyping strategy was performed. In stage one, 19,000 CNV loci were genotyped in 14 thrombotic aPLA+ patients and 14 healthy controls by array-CGH. In stage two, significant CNV loci were fine-mapped in a larger cohort (85 thrombotic aPLA+, 100 non-thrombotic aPLA+ and 569 healthy controls). Results : Array-CGH and fine-mapping analysis led to the identification of 12q24.12 locus as a new susceptibility locus for thrombotic APS. Within this region, a TAC risk haplotype comprising one SNP in SH2B3 gene (rs3184504) and two SNPs in ATXN2 gene (rs10774625 and rs653178) exhibited the strongest association with thrombotic antiphospholipid syndrome (p-value = 5,9 × 10−4 OR 95% CI 1.84 (1.32–2.55)). Conclusion : The presence of a TAC risk haplotype in ATXN2-SH2B3 locus may contribute to increased thrombotic risk in aPLA carriers.

The deliberate practice: the sports excellence versus the musical excellence

[ENG] If we look around us, we can observe that there is someone who is the best in each field of activity. We could think that they are exceptional individuals. This Final Project aims to increase knowledge of the effects of Deliberate Practice in the domains of music and sport. This will define you a concept of Deliberate Practice and then focus on the diversity of situations in which it shows us how it is presented in real life. From a questionnaire that has been designed for this study and distributed to the music students, I have expected to obtain a result that allow me to come to the conclusion that exists a relation between the hours of practice and the expertise in the execution. This reality has been linked to the regarding situation in the sport practice, whose information has been provided by the coordinators of the different sports. Taking into account the limited number of references available, this work has focused on a qualitative analysis of the data, interpreted from my point of view and my personal experience, which has been confirmed in the results obtained. The statistics managed allow me to conclude that, although the argument is not definitive, the guide effort through deliberate practice is essential to achieve the excellence.