Literature review : research: footprints of selection on the suppressyn gene, a recruited sequence from an endogenous retrovirus involved in cell fusion inhibition in mammals

[Resumen]: Los retrovirus endógenos conforman aproximadamente el 8% del genoma humano. Hay 450.000 copias prodecentes de infecciones que se han venido produciendo desde hace aproximadamente 45 MA en las líneas germinales de nuestros antepasados. La mayoría de las copias no son funcionales, lo que no evita que puedan tener una importante influencia reguladora. Algunas de ellas se han asociado con distintas patologías. Sin embargo, existe una creciente evidencia que señala el reclutamiento de algunas de estas secuencias para servir beneficiosamente al anfitrión. Un ejemplo de este efecto beneficioso podría ser el del gen llamado supresina, que parece jugar, junto con la sincitina, un importante papel en la regulación de la fusión celular en los tejidos humanos. En este trabajo se estudia la historia evolutiva de este gen en los primates y se pretende determinar el momento aproximado en el que fue reclutado para esta función celular.[Resumo]: Os retrovirus endóxenos conforman aproximadamente o 8% do xenoma humano. Existen 450.000 copias que procedentes de infeccións que viñéronse producindo dende hai aproximadamente 45 MA nas liñas xerminais dos nosos antepasados. A maioría das copias non son funcionais , o que non evita que poidan ter unha importante influencia reguladora. Algunhas delas asociáronse con distintas patoloxías. Sen embargo, existe unha crecente evidencia que sinala o recrutamento dalgunhas destas secuencias para servir beneficiosamente ó anfitrión. Un exemplo diste efecto podería ser o xene denominado supresina, que parece xogar, xunto ca sincitina, un importante papel na regulación da fusión celular nos tecidos humanos. Neste traballo vaise estudar a historia evolutiva desde xene nos primates e preténdese determinar o momento aproximado no que foi recrutado para esta función celular.[Abstract]: he endogenous retroviruses form approximately 8% of the human genome. There are 450,000 copies derived from infections of the germ lines of our ancestorts that have been taking place during the last 45 MA. Most of the copies are not functional, which does not prevent their being able to have an important regulating influence. Some of them have been associated with different pathologies. However, there is an increasing evidence that indicates that some of these sequences have been recruited to serve beneficially to the host. An example of this beneficial effect could be that of the gene called suppressyn, which it seems to play, together with the sincitina, an important paper in the regulation of the cellular melting in the human tissues. In this work the evolutionary history of this gene is studied in the primates and it is intended to determine the approximate moment in which it was recruited for this cellular function.Traballo fin de grao (UDC.CIE). Bioloxía. Curso 2017/201

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Next-generation sequencing (NGS) has recently been introduced to efficiently and simultaneously detect genetic variations in acute myeloid leukemia (AML). However, its implementation in the clinical routine raises new challenges focused on the diversity of assays and variant reporting criteria. In order to overcome this challenge, the PETHEMA group established a nationwide network of reference laboratories aimed to deliver molecular results in the clinics. We report the technical cross-validation results for NGS panel genes during the standardization process and the clinical validation in 823 samples of 751 patients with newly diagnosed or refractory/relapse AML. Two cross-validation rounds were performed in seven nationwide reference laboratories in order to reach a consensus regarding quality metrics criteria and variant reporting. In the pre-standardization cross-validation round, an overall concordance of 60.98% was obtained with a great variability in selected genes and conditions across laboratories. After consensus of relevant genes and optimization of quality parameters the overall concordance rose to 85.57% in the second cross-validation round. We show that a diagnostic network with harmonized NGS analysis and reporting in seven experienced laboratories is feasible in the context of a scientific group. This cooperative nationwide strategy provides advanced molecular diagnostic for AML patients of the PETHEMA group (clinicaltrials gov. Identifier: NCT03311815)

La integración curricular de las tecnologías de ayuda en contextos escolares

Resumen tomado de la publicación.- Contiene un anexo con el catálogo ( fichas) de los programas educativos multimedia seleccionadosTrabajo colectivo de un grupo de docentes que utilizan las Tecnologías de la Información y la Comunicación (TIC) como recurso para pensar, construir y modelar las actividades del proceso de enseñanza y aprendizaje. Exponen desde diferentes ángulos sus experiencias (acceso al ordenador, el español como segunda lengua, comunicación aumentativa, estimulación sensoriomotriz, etc.) en el marco de la reflexión-acción coincidiendo en que el hilo conductor del proceso educativo ha de viajar de forma rigurosa entre la información, el conocimiento y la sabiduría.MurciaConsejería de Educación y Cultura. Secretaría General; Av. de la Fama, 15; 30006 Murcia; +34968279685; +34968279835; [email protected]

Short- and Long-Term Prognostic Relevance of Cardiogenic Shock in Takotsubo Syndrome: Results From the RETAKO Registry.

This study sought to describe the incidence, determinants, and prognostic impact of cardiogenic shock (CS) in takotsubo syndrome (TTS). TTS can be associated with severe hemodynamic instability. The prognostic implication of CS has not been well characterized in large studies of TTS. We analyzed patients with a definitive TTS diagnosis (modified Mayo criteria) who were recruited for the National RETAKO (Registry on Takotsubo Syndrome) trial from 2003 to 2016. Cox and competing risk regression models were used to identify factors associated with mortality and recurrences. A total of 711 patients were included, 81 (11.4%) of whom developed CS. Male sex, QTc interval prolongation, lower left ventricular ejection fraction at admission, physical triggers, and presence of "a significant" left intraventricular pressure gradient, were associated with CS (C index = 0.85). In-hospital complication rates, including mortality, were significantly higher in patients with CS. Over a median follow-up of 284 days (interquartile range: 94 to 929 days), CS was the strongest independent predictor of long-term, all-cause mortality (hazard ratio [HR]: 5.38; 95% confidence interval [CI]: 2.60 to 8.38); cardiovascular (CV) death (sub-HR: 4.29; 95% CI: 2.40 to 21.2), and non-CV death (sub-HR: 3.34; 95% CI: 1.70 to 6.53), whereas no significant difference in the recurrence rate was observed between groups (sub-HR: 0.76; 95% CI: 0.10 to 5.95). Among patients with CS, those who received beta-blockers at hospital discharge experienced lower 1-year mortality compared with those who did not receive a beta-blocker (HR: 0.52; 95% CI: 0.44 to 0.79; pinteraction = 0.043). CS is not uncommon and is associated with worse short- and long-term prognosis in TTS. CS complicating TTS may constitute a marker of underlying disease severity and could identify a masked heart failure phenotype with increased vulnerability to catecholamine-mediated myocardial stunning