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.

Aisialdi aktiboko enpresa berri baten negozio plana.

[EN]This project intends to establish a working path in order to create a company which will work on the leisure and tourist sector and will be located in Bizkaia. The company would offer adventure activities like water skiing, Jet Ski, kayak... To make sure the idea is profitable the project will entail some general stages: the market analysis, the marketing plan, the description of the idea and the economical and financial analysis. Apart of this the project will also contain some guidelines for the creation and subsequent management of the company, including the planning of human resources.

UD Aretxabaletako jubenil mailako jokalarien baldintzazko gaitasunen eta zelaian duten posizioaren arteko erlazioaren balorazioa

Lan honen helburu nagusia, futbolari jubenilen (17-19 urte) gaitasun fisiko kondizionalak aztertzea eta baloratzea da, gainera postu espezifikoen arteko ezberdintasunak detektatuz (atezainak, defentsak, erdilariak eta aurrelariak). Horretarako, 26 jokalari ( adina 17,50 ± 0,95 urte, pisua 70,58 ± 7,48 Kg , altuera 1,77 ± 0,07 metro, 22,55 ± 1,70 IMC-arekin eta 7,85 ± 0,97 esperientziarekin futbolean). Gaitasun hauek neurtzeko erabili izan ziren testak, pisu eta altuera neurketa(Seca 704s, Alemania), Yo-Yo test (egindako distantzia eta V02max), abiadura testa (S20m eta S30m), agilitate testa (Zig-Zagrun test), salto horizontala (HCMJAS) eta enborraren malgutasunaren testa (Test Sit and Reach).Gauzatutako testen emaitzen arabera, ez ditugu alde signifikatiborik aurkitu postu espezifikoen artean, baina beste aldetik, aldagaien arteko erlazioa aztertzerakoan, abiadura eta zig-zag testen artean korrelazio esanguratsua dagoela aurkitu da. Hau da, agilitate eta abiadura testen artean korrelazioa dago, baina korrelazioa handiagoa lortu da S20m-rekin S30m-ekin baino.