Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci

Background: Congenital heart defects (CHD) is the most common cause of death from a congenital structure abnormality in newborns and is often associated with fetal loss. There are many types of CHD. Human genetic studies have identified genes that are responsible for the inheritance of a particular type of CHD and for some types of CHD previously thought to be sporadic. However, occasionally different members of the same family might have anatomically distinct defects — for instance, one member with atrial septal defect, one with tetralogy of Fallot, and one with ventricular septal defect. Our objective is to identify susceptibility loci for CHD in families affected by distinct defects. The occurrence of these apparently discordant clinical phenotypes within one family might hint at a genetic framework common to most types of CHD. Results: We performed a genome-wide linkage analysis using MOD score analysis in families with diverse CHD. Significant linkage was obtained in two regions, at chromosome 15 (15q26.3, Pempirical = 0.0004) and at chromosome 18 (18q21.2, Pempirical = 0.0005). Conclusions: In these two novel regions four candidate genes are located: SELS, SNRPA1, and PCSK6 on 15q26.3, and TCF4 on 18q21.2. The new loci reported here have not previously been described in connection with CHD. Although further studies in other cohorts are needed to confirm these findings, the results presented here together with recent insight into how the heart normally develops will improve the understanding of CHDThis study was supported by the grants from the Instituto de Salud Carlos III (08–1363 and 11–0699) of the Spanish Ministry of Health and by grant Str643/4-1 of the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)

Estudi del impacte econòmic/ambiental d'instal·lacions fotovoltaiques en l'Aeroport Josep Tarradellas Barcelona El Prat

Climate change is, nowadays, one of the main problems that our generation has to face. We live in a critical situation that is getting worse year after year to a point of no return. The management of consumption, together with the increase in technologies for energy capture, form the axes that we must follow in order to reach a state of neutrality in CO2 levels. This study proposes the implementation of photovoltaic solar energy capture technologies within the environment that includes the Josep Tarradellas Barcelona - El Prat Airport. This is why a model for obtaining photovoltaic studies will be programmed, by means of code, in order to assess the impacts produced by it. The objective of the work is to design, simulate and analyze a large photovoltaic solar system in the area of Barcelona airport. The main objective is to show the economic impact over a period of 30 years. At the same time, we will work on a programming code capable of processing databases to create an analysis tool for photovoltaic projects. In addition, a detailed analysis of the different equipment to be used, the budget for the installation, timetables up to start-up, adaptations to the airport's electrical scheme is carried out. The goal for the reader is that, after reading this work, can understand how a photovoltaic installation is made. Apart from knowing the different effects that occur in the short and long term.Objectius de Desenvolupament Sostenible::7 - Energia Assequible i No ContaminantObjectius de Desenvolupament Sostenible::12 - Producció i Consum Responsable

Penolakan Justice Collaborator Mukti Sulaiman Dalam Kasus Korupsi Masjid Sriwijaya

Tindak pidana korupsi dikualifikasikan sebagai kejahatan yang luar biasa (extra ordinary crime), penanganan tindak pidana korupsi tidak dapat dilakukan secara biasa. Salah satu cara yang dapat ditempuh oleh aparat penegak hukum adalah dengan bantuan dari orang dalam yang juga terlibat dalam jaringan kejahatan tersebut atau yang biasa disebut dengan justice collaborator. Penelitian ini menggunakan metode pendekatan yuridis normatif, serta spesifikasi penelitian yaitu preskriptif. Berdasarkan hasil penelitian menunjukkan bahwa tidak semua pelaku tindak pidana dapat menjadi justice collaborator. Pelaku tindak pidana yang dapat masuk ke dalam klasifikasi sebagai justice collaborator harus memenuhi persyaratan yang terdapat di dalam SEMA Nomor 4 Tahun 2011. Syarat tersebut memiliki sifat kumulatif, yang artinya semua harus terpenuhi tanpa terkecuali. Pertimbangan Majelis Hakim dalam aspek yuridis dan sosiologis sudah tepat dalam memutuskan penolakan permohonan status justice collaborator yang diajukan oleh Terdakwa Mukti Sulaiman. Alasan penolakan permohonan tersebut adalah Terdakwa Mukti Sulaiman tidak memenuhi syarat sebagaimana seseorang dapat dikualifikasikan menjadi justice collaborator. Namun dalam aspek filosofis Majelis Hakim dalam menjatuhkan pidana penjara masih sangat rendah mengingat peran Terdakwa di dalam melakukan korupsi, sehingga dikhawatirkan tidak memberikan efek jera terhadap Terdakwa

Revisión bibliográfica sobre el póster o cartel.

Se realizó una revisión bibliográfica sobre el  póster o cartel en la cual se muestra su definición y caracterización, los elementos estructurales que lo componen. Se ofrecen sugerencias sobre la forma de confeccionarlos, las opciones que se tienen para su diseño y se presenta adicionalmente la aplicación de las nuevas tecnologías de la información y las comunicaciones en la presentación de este importante recurso comunicativo. Se sugiere asimismo su utilización en ambientes docentes, además de la recomendación en eventos de todo tipo