41 research outputs found

    Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

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    We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DR beta 1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition. A GWAS in a large case-control cohort of European ancestry identifies two genomic regions, the MHC class II gene HLA-DRB1 and an upstream locus of VRK1, that are associated with the most severe phenotype of spermatogenic failure

    Guía de práctica clínica para el tamizaje y manejo de adultos con desnutrición o riesgo de desnutrición en el seguro social del Perú (EsSalud)

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    Introduction: This article summarizes the clinical practice guide (CPG) for the screening and management of malnourished patients or patients at risk of malnutrition in the Social Security of Peru (EsSalud). Objective: To provide clinical recommendations based on evidence for the screening and management of malnourished patients or patients at risk of malnutrition in EsSalud. Methods: A CPG for the screening, management and monitoring of malnourished patients or patients at risk of malnutrition in EsSalud was developed. To this end, a guideline development group (local GDG) was established, including medical specialists and methodologists. The local GDG formulated 9 clinical questions to be answered by this CPG. Systematic searches of systematic reviews and -when it was considered pertinent- primary studies were conducted in Pubmed and CENTRAL during 2021. The evidence to answer each of the posed clinical questions was selected. The quality of the evidence was evaluated using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology. In periodic work meetings, the local GDG used the GRADE methodology to review the evidence and formulate the recommendations, points of good clinical practice, and the flowchart of screening and management. Finally, the CPG was approved with Resolution No. 128-IETSI-ESSALUD-2021. Results: This CPG addressed 9 clinical questions, divided into three topics: screening, management and monitoring of malnourished patients or patients at risk of malnutrition. Based on these questions, 6 recommendations (3 strong recommendations and 3 weak recommendations), 39 points of good clinical practice, and 2 flowcharts were formulated. Conclusion: This article summarizes the methodology and evidence-based conclusions from the CPG for the screening, management and monitoring of malnourished patients or patients at risk of malnutrition in EsSalud.Introducción: El presente artículo resume la guía de práctica clínica (GPC) para el tamizaje y manejo de los pacientes desnutridos o en riesgo de desnutrición del Seguro Social del Perú (EsSalud). Objetivo: Proveer recomendaciones clínicas basadas en evidencia para el tamizaje y manejo de pacientes desnutridos o en riesgo de desnutrición en EsSalud. Métodos: Se conformó un grupo elaborador de la guía (GEG) que incluyó profesionales de la salud y metodólogos. El GEG formuló 9 preguntas clínicas a ser respondidas por la presente GPC. Se realizó búsquedas sistemáticas de revisiones sistemáticas y cuando fue considerado pertinentes estudios primarios. Se seleccionó la evidencia para responder cada una de las preguntas clínicas planteadas. La certeza de la evidencia fue evaluada usando la metodología Grading of Recommendations Assessment, Development, and Evaluation (GRADE). En reuniones de trabajo periódicas, el GEG usó la metodología GRADE para revisar la evidencia y formular las recomendaciones, los puntos de buenas prácticas clínicas y los flujogramas de tamizaje y manejo. Finalmente, la GPC fue aprobada con Resolución N° 128-IETSI-ESSALUD-2021. Resultados: La presente GPC abordó 9 preguntas clínicas, divididas en tres temas: tamizaje, manejo y monitoreo de pacientes desnutridos o en riesgo de desnutrición. En base a dichas preguntas se formularon 6 recomendaciones (3 recomendaciones fuertes y 3 condicionales), 39 puntos de buena práctica clínica, y 2 flujogramas. Conclusión: El presente artículo resume la metodología y las conclusiones basadas en evidencias de la GPC para el tamizaje, manejo y monitoreo de pacientes desnutridos o en riesgo de desnutrición en EsSalud

    Epidemiology and pathogenesis of maternal-fetal transmission of Trypanosoma cruzi and a case for vaccine development against congenital Chagas disease

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    Trypanos o ma cruzi (T. cruzi or Tc) is the causative agent of Chagas disease (CD). It is common for patients to suffer from non-specific symptoms or be clinically asymptomatic with acute and chronic conditions acquired through various routes of transmission. The expecting women and their fetuses are vulnerable to congenital transmission of Tc. Pregnant women face formidable health challenges because the frontline antiparasitic drugs, benznidazole and nifurtimox, are contraindicated during pregnancy. However, it is worthwhile to highlight that newborns can be cured if they are diagnosed and given treatment in a timely manner. In this review, we discuss the pathogenesis of maternal-fetal transmission of Tc and provide a justification for the investment in the development of vaccines against congenital CD.Fil: Rios, Lizette. University of Texas Medical Branch; Estados UnidosFil: Campos, Emiliano Emanuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Patología Experimental. Universidad Nacional de Salta. Facultad de Ciencias de la Salud. Instituto de Patología Experimental; ArgentinaFil: Menon, Ramkumar. University of Texas Medical Branch; Estados UnidosFil: Zago, María Paola. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Salta. Instituto de Patología Experimental. Universidad Nacional de Salta. Facultad de Ciencias de la Salud. Instituto de Patología Experimental; ArgentinaFil: Garg, Nisha J.. University of Texas Medical Branch; Estados Unido

    Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

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    Contains fulltext : 172380.pdf (publisher's version ) (Open Access

    VIII Encuentro de Docentes e Investigadores en Historia del Diseño, la Arquitectura y la Ciudad

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    Acta de congresoLa conmemoración de los cien años de la Reforma Universitaria de 1918 se presentó como una ocasión propicia para debatir el rol de la historia, la teoría y la crítica en la formación y en la práctica profesional de diseñadores, arquitectos y urbanistas. En ese marco el VIII Encuentro de Docentes e Investigadores en Historia del Diseño, la Arquitectura y la Ciudad constituyó un espacio de intercambio y reflexión cuya realización ha sido posible gracias a la colaboración entre Facultades de Arquitectura, Urbanismo y Diseño de la Universidad Nacional y la Facultad de Arquitectura de la Universidad Católica de Córdoba, contando además con la activa participación de mayoría de las Facultades, Centros e Institutos de Historia de la Arquitectura del país y la región. Orientado en su convocatoria tanto a docentes como a estudiantes de Arquitectura y Diseño Industrial de todos los niveles de la FAUD-UNC promovió el debate de ideas a partir de experiencias concretas en instancias tales como mesas temáticas de carácter interdisciplinario, que adoptaron la modalidad de presentación de ponencias, entre otras actividades. En el ámbito de VIII Encuentro, desarrollado en la sede Ciudad Universitaria de Córdoba, se desplegaron numerosas posiciones sobre la enseñanza, la investigación y la formación en historia, teoría y crítica del diseño, la arquitectura y la ciudad; sumándose el aporte realizado a través de sus respectivas conferencias de Ana Clarisa Agüero, Bibiana Cicutti, Fernando Aliata y Alberto Petrina. El conjunto de ponencias que se publican en este Repositorio de la UNC son el resultado de dos intensas jornadas de exposiciones, cuyos contenidos han posibilitado actualizar viejos dilemas y promover nuevos debates. El evento recibió el apoyo de las autoridades de la FAUD-UNC, en especial de la Secretaría de Investigación y de la Biblioteca de nuestra casa, como así también de la Facultad de Arquitectura de la UCC; va para todos ellos un especial agradecimiento

    El estanco de carne y su crisis en Buenos Aires colonial desde una visión comparativa

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    La carne vacuna en diversas ciudades de Hispanoamérica colonial formaba parte de la dieta básica de la población. Y desde la conformación de los primeros núcleos poblacionales, su provisión se encontraba mediada por el estanco, sistema de abastecimiento monopólico, cuyo principal objetivo era asegurar el eficiente suministro de alimentos a la ciudad. En el presente escrito procuraremos mostrar que el estanco no funcionaba aún desde sus inicios, de manera totalmente eficiente, sino que presentaba fisuras, las que desembocarán, de facto primero y luego, ya formalmente, desde mediados del XVIII, en el sistema de libre competencia. Precisamente, el mercado de abasto era parte de una estructura económica mayor que, sin duda, influía y se veía influida por él. Es por eso que consideramos la importancia de abordar, en este caso desde el ámbito institucional, las características de este mercado en una coyuntura histórica específica. Las fuentes con las que se trabajará serán fundamentalmente las Actas del Cabildo referidas al abasto colonial

    The role of social participation in municipal-level health systems : the case of Palencia, Guatemala

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    Background: Social participation has been recognized as an important public health policy since the declaration of Alma-Ata presented it as one of the pillars of primary health care in 1978. Since then, there have been many adaptations to the original policy recommendations, but participation in health is still seen as a means to make the health system more responsive to local health needs, and as a way to bring the health sector and the community closer together. Aim: To explore the role that social participation has in a municipal-level health system in Guatemala in order to inform future policies and programs. Methods: The fieldwork for this study was carried out over eight months and three field visits between early January of 2009 and late March of 2010. During this time, 38 indepth interviews with provincial and district-level health authorities, municipal authorities, community representatives and community health workers were conducted. Using an overall applied ethnographic approach, the main means of data collection were participant observation, in-depth interviews, group discussions and informal conversations. The data was analyzed in two different rounds. In the first one we used documentary analysis, role-ordered matrices and thematic analsis (see papers I-IV) and in the second round, thematic analysis was utilized. Results: We found four themes that frame what the role of social participation in the municipality of Palencia is. The first theme presents the historical, political and social context that has contributed to shaping the participation policies and practices in Guatemala as a whole. The second theme takes a deeper look at these policies and how they have been received in the municipality of Palencia. The third theme presents data regarding the three situated practices of participation, each occurring at a different level: municipal, community and the individual level. Finally, the last theme presents reflections on what it means to participate to the people that were involved in this study. Conclusion: In the process of social participation there are two different and complementary kinds of power that depend on the amount and the kind of resources available at each level of the participation structure. Stakeholders that have higher levels of power to formulate policies will have better access to financial, human and material resources while stakeholders that have higher levels of power to implement policies will have resources like community legitimacy, knowledge of local culture, values and mores, as well as a deep understanding of local social processes. The coordination of financial, human and material resources is just as important as the legitimacy that comes from having community leaders involved in more steps of the process. True collaboration can only be obtained through the promotion and creation of meaningful partnerships between institutional stakeholders and community leaders and other stakeholders that are working at the community level. For this to happen, more structured support for the participation process in the form of clear policies, funding and capacity building is needed

    Patients with Crohn's disease have longer post-operative in-hospital stay than patients with colon cancer but no difference in complications' rate

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    BACKGROUNDRight hemicolectomy or ileocecal resection are used to treat benign conditions like Crohn's disease (CD) and malignant ones like colon cancer (CC).AIMTo investigate differences in pre- and peri-operative factors and their impact on post-operative outcome in patients with CC and CD.METHODSThis is a sub-group analysis of the European Society of Coloproctology's prospective, multi-centre snapshot audit. Adult patients with CC and CD undergoing right hemicolectomy or ileocecal resection were included. Primary outcome measure was 30-d post-operative complications. Secondary outcome measures were post-operative length of stay (LOS) at and readmission.RESULTSThree hundred and seventy-five patients with CD and 2,515 patients with CC were included. Patients with CD were younger (median = 37 years for CD and 71 years for CC (P < 0.01), had lower American Society of Anesthesiology score (ASA) grade (P < 0.01) and less comorbidity (P < 0.01), but were more likely to be current smokers (P < 0.01). Patients with CD were more frequently operated on by colorectal surgeons (P < 0.01) and frequently underwent ileocecal resection (P < 0.01) with higher rate of de-functioning/primary stoma construction (P < 0.01). Thirty-day post-operative mortality occurred exclusively in the CC group (66/2515, 2.3%). In multivariate analyses, the risk of post-operative complications was similar in the two groups (OR 0.80, 95%CI: 0.54-1.17; P = 0.25). Patients with CD had a significantly longer LOS (Geometric mean 0.87, 95%CI: 0.79-0.95; P < 0.01). There was no difference in re-admission rates. The audit did not collect data on post-operative enhanced recovery protocols that are implemented in the different participating centers.CONCLUSIONPatients with CD were younger, with lower ASA grade, less comorbidity, operated on by experienced surgeons and underwent less radical resection but had a longer LOS than patients with CC although complication's rate was not different between the two groups
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