New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Estrategia sistémica para conformar colectivos colaborativos inter-transdisciplinarios: conocimiento al servicio de la sociedad

This text proposes a methodology for re-learning and incubating Inter-Transdisciplinary Collaborative Collectives in higher education institutions that allows addressing the urgent needs in the face of the complex socio-environmental problems of the 21st century. Through the transdisciplinary participatory action-research methodology, the research results of more than six years of collective academic work are reported. As institutions that generate knowledge, the universities are increasingly obliged to influence the restoration of our chaotic humanity and nature in general. Everyday realities present situations (problems and paradoxes) that are more difficult to address with reductionist, linear approaches and individual and disciplinary practices. It becomes relevant and urgent to build actions based on new paradigms, with logics of thought and action capable of generating empathy scenarios based on inter-transdisciplinary approaches. In this sense, what is presented here is an experience of knowledge generation within the university educational field. It arises from the collaborative work that has been generated by the academic group that writes this article from different areas of knowledge of the University of Veracruz, from the construction of synergies from inter and transdisciplinary dialogue. This proposal aims to be an instrument that, step-by-step, guides the formation of groups of academics and/or students and can move towards collaborative inter-transdisciplinary research. In this way, situations can be approached with a more comprehensive approach, and responses can be given considering the interwoven, complex, transversal, and sustainably human wholes. Keywords: Human Sustainability; Complexity; University Transformation; Planetary Crisis; Alternatives.El presente texto plantea una metodología de re-aprendizaje e incubación de Colectivos Colaborativos Inter-Transdisciplinarios en las instituciones de educación superior, que permita atender las urgentes necesidades frente a las complejas problemáticas socioambientales del siglo XXI. Mediante la metodología de investigación-acción participativa transdisciplinaria, se reportan los resultados de investigación de más de seis años de trabajo colectivo académico. Las universidades, como instituciones generadoras de conocimiento, se encuentran cada día más obligadas a incidir en la restauración de nuestra caótica humanidad y de la naturaleza en lo general. Cada día las realidades presentan situaciones (problemáticas y paradojas) más difíciles de abordar con enfoques reduccionistas, lineales y con prácticas individuales y unidisciplinarias. Se torna relevante y urgente, constituir acciones basadas en nuevos paradigmas, con lógicas de pensamiento y acción que sean capaces de generar escenarios de empatía, basados en enfoques inter-transdisciplinarios. En este sentido, lo que aquí presentado es una experiencia de generación del conocimiento dentro del ámbito educativo universitario. Surge del trabajo colaborativo que ha venido generando el colectivo académico que escribe este artículo de diferentes áreas del conocimiento de la Universidad Veracruzana, a partir de la construcción de sinergias desde el diálogo inter y transdisciplinario. La presente propuesta pretende ser un instrumento que paso a paso guíe la conformación de grupos de académicos y/o estudiantes y puedan transitar hacia la investigación colaborativa inter-transdisciplinaria. De esta manera se podrán abordar situaciones con un enfoque más integral, y dar respuestas considerando las totalidades entramadas, complejas, transversales y sustentablemente humanas. Palabras clave: Sustentabilidad Humana; Complejidad; Transformación Universitaria; Crisis Planetaria; Alternativas

Integration of the Barcelona Supercomputing Center for CMS computing: Towards large scale production

The CMS experiment is working to integrate an increasing number of High Performance Computing (HPC) resources into its distributed computing infrastructure. The case of the Barcelona Supercomputing Center (BSC) is particularly challenging as severe network restrictions prevent the use of CMS standard computing solutions. The CIEMAT CMS group has performed significant work in order to overcome these constraints and make BSC resources available to CMS. The developments include adapting the workload management tools, replicating the CMS software repository to BSC storage, providing an alternative access to detector conditions data, and setting up a service to transfer produced output data to a nearby storage facility. In this work, we discuss the current status of this integration activity and present recent developments, such as a front-end service to improve slot usage efficiency and an enhanced transfer service that supports the staging of input data for workflows at BSC. Moreover, significant efforts have been devoted to improving the scalability of the deployed solution, automating its operation, and simplifying the matchmaking of CMS workflows that are suitable for execution at BSC

Mother of Dragons: A Massive, quiescent core in the dragon cloud (IRDC G028.37+00.07)

Context: Core accretion models of massive star formation require the existence of massive, starless cores within molecular clouds. Yet, only a small number of candidates for such truly massive, monolithic cores are currently known. Aims: Here, we analyse a massive core in the well-studied infrared dark cloud (IRDC) called the "dragon cloud" (G028.37+00.07 or "Cloud C"). This core (C2c1) sits at the end of a chain of a roughly equally spaced actively star-forming cores near the center of the IRDC. Methods: We present new high-angular resolution 1 mm ALMA dust continuum and molecular line observations of the massive core. Results: The high-angular resolution observations show that this region fragments into two cores C2c1a and C2c1b, which retain significant background subtracted masses of 23 Msun and 2 Msun (31 Msun and 6 Msun without background subtraction), respectively. The cores do not appear to fragment further on the scales of our highest angular resolution images (0.200 arcsec, 0.005 pc ~ 1000 AU). We find that these cores are very dense (nH2 > 10^6 cm-3) and have only trans-sonic non-thermal motions (Ms ~ 1). Together the mass, density and internal motions imply a virial parameter of < 1, which suggests the cores are gravitationally unstable, unless supported by strong magnetic fields with strengths of ~ 1 - 10 mG. From CO line observations, we find that there is tentative evidence for a weak molecular outflow towards the lower-mass core, yet the more massive core remains devoid of any star formation indicators. Conclusions: We have presented evidence for the existence of a massive, prestellar core, which has implications for theories of massive star formation. This source warrants follow-up higher-angular resolution observations to further assess its monolithic and prestellar nature.Comment: 8+4 pages, 4+2 Figures, 2 Tables, accepted for publication in Astronomy & Astrophysic

Interstellar MHD Turbulence and Star Formation

This chapter reviews the nature of turbulence in the Galactic interstellar medium (ISM) and its connections to the star formation (SF) process. The ISM is turbulent, magnetized, self-gravitating, and is subject to heating and cooling processes that control its thermodynamic behavior. The turbulence in the warm and hot ionized components of the ISM appears to be trans- or subsonic, and thus to behave nearly incompressibly. However, the neutral warm and cold components are highly compressible, as a consequence of both thermal instability in the atomic gas and of moderately-to-strongly supersonic motions in the roughly isothermal cold atomic and molecular components. Within this context, we discuss: i) the production and statistical distribution of turbulent density fluctuations in both isothermal and polytropic media; ii) the nature of the clumps produced by thermal instability, noting that, contrary to classical ideas, they in general accrete mass from their environment; iii) the density-magnetic field correlation (or lack thereof) in turbulent density fluctuations, as a consequence of the superposition of the different wave modes in the turbulent flow; iv) the evolution of the mass-to-magnetic flux ratio (MFR) in density fluctuations as they are built up by dynamic compressions; v) the formation of cold, dense clouds aided by thermal instability; vi) the expectation that star-forming molecular clouds are likely to be undergoing global gravitational contraction, rather than being near equilibrium, and vii) the regulation of the star formation rate (SFR) in such gravitationally contracting clouds by stellar feedback which, rather than keeping the clouds from collapsing, evaporates and diperses them while they collapse.Comment: 43 pages. Invited chapter for the book "Magnetic Fields in Diffuse Media", edited by Elisabete de Gouveia dal Pino and Alex Lazarian. Revised as per referee's recommendation

Growing up at Different Altitudes: Changes in Energy Content of the Abies religiosa Wood

Wood is considered an important renewable energy resource with a variable elemental chemical composition, which may change according to environmental conditions (e.g., temperature, precipitation, altitude). In this study, we evaluated how heating value (HV), elemental chemical composition, and main thermoenergetic parameters of Abies religiosa wood change along an altitudinal gradient. To evaluate these parameters, wood samples were collected from six independent trees in an altitudinal gradient (3000-3500 masl) every 100 m of altitude (36 trees) and their respective HV (higher and low), thermogravimetric and immediate analysis, specific carbon energy (SCE), and fuel value index (FVI) were determined. We found that the higher and lower heating values, elemental chemical composition and the majority of the studied parameters were significantly different (p < 0.05) between altitudes. Our results suggest that A. religiosa wood from 3300 masl has more energy content than wood from 3200 and 3500 masl. Additionally, FVI showed that wood from 3500 masl is the best feedstock in order to use as a solid biofuel. Finally, the results suggest that the altitude at which A. religiosa is grown significantly affects the energetic content of their wood and throughput as a solid biofue

Effects of progressive jogging in the Physical Education session on the percentage of body fat and VO2max in students with overweight and obesity. Pilot test

El presente estudio cuasi experimental y prospectivo tubo como objetivo determinar si el trote progresivo a 10 minutos durante la sesión de educación física caracterizada por desarrollar actividades moderadas a vigorosas, tenía efecto sobre el porcentaje de grasa corporal y el VO2máx en estudiantes con sobrepeso y obesidad. La población fue de 59 niños (57.63%) y niñas (42.37%) organizados en grupo control y experimental. Entre los principales resultados de esta investigación posterior a cuatro meses de intervención, fueron que las niñas y los niños del grupo experimental disminuyeron el porcentaje de grasa corporal de manera significativa (p. < 0.005) y ambos grupos (control y experimental), aumentaron significativamente la capacidad aeróbica máxima (p. < 0.005).The present quasi-experimental and prospective study aimed to determine if 10-minute progressive jogging during the Physical Education session characterized by developing moderate to vigorous activities had an effect on the percentage of body fat and VO2max in overweight and obese students. The population under study was 59 boys (57.63%) and girls (42.37%) organized in control and experimental groups. Among the main results of this research after four months of intervention, we found that girls and boys in the experimental group significantly decreased the percentage of body fat (p. < 005) and that both groups (control and experimental) significantly increased maximum aerobic capacity (p. < 005).Facultad de Humanidades y Ciencias de la Educació

Sarcoma fibromixoide intracraneal primario de bajo grado: reporte de caso y revisión de la literatura.

Low-grade fibromyxoid sarcoma (LGFMS) is a soft tissue tumor of mesenchymal origin. Sarcomas are a heterogeneous group, representing 1% of all neoplasm diagnoses. Primary sarcomas of the central nervous system (CNS) are rare, and represent only 0.7% of all sarcomas, with an estimated incidence of 3 per 10 million people per year. The case of a 59-year-old woman who developed a low-grade intracranial fibromyxoid sarcoma in the right parietal region, is described. The clinical course, imaging studies, histopathological features, and treatment approach of this unusual diagnosis, are discussed. Low-grade intracranial fibromyxoid sarcoma is a rare and probably under- reported condition. The definitive diagnosis is usually made through histo-pathological studies.El sarcoma fibromixoide de bajo grado (LGFMS) es un tumor de tejidos blandos de origen mesenquimal. Los sarcomas son un grupo heterogéneo, que representa el 1% de todas las neoplasias. Los sarcomas primarios del sistema nervioso central (SNC) son raros y representan solo el 0,7% del total de sarcomas, con una incidencia estimada de 3 por cada 10 millones de personas por año. En este artículo, se describe el caso de una mujer de 59 años que presentó un sarcoma fibromixoide intracraneal de bajo grado, localizado en la región parietal derecha. Se discute el curso clínico, estudios de imágenes, características histopatológicas y tratamiento de este diagnóstico infrecuente y, por lo mismo, muy poco reportado. El diagnóstico definitivo se obtiene, ciertamente, mediante estudios histo- patológicos

Human papillomavirus detection from human immunodeficiency virus-infected colombian women's paired urine and cervical samples

Infection, coinfection and type-specific human papillomavirus (HPV) distribution was evaluated in human immunodeficiency virus (HIV)-positive women from paired cervical and urine samples. Paired cervical and urine samples (n = 204) were taken from HIV-positive women for identifying HPV-DNA presence by using polymerase chain reaction (PCR) with three generic primer sets (GP5+/6+, MY09/11 and pU1M/2R). HPV-positive samples were typed for six high-risk HPV (HR-HPV) (HPV-16, -18, -31, -33, -45 and -58) and two low-risk (LR-HPV) (HPV-6/11) types. Agreement between paired sample results and diagnostic performance was evaluated. HPV infection prevalence was 70.6% in cervical and 63.2% in urine samples. HPV-16 was the most prevalent HPV type in both types of sample (66.7% in cervical samples and 62.0% in urine) followed by HPV-31(47.2%) in cervical samples and HPV-58 (35.7%) in urine samples. There was 55.4% coinfection (infection by more than one type of HPV) in cervical samples and 40.2% in urine samples. Abnormal Papanicolau smears were observed in 25.3% of the women, presenting significant association with HPV-DNA being identified in urine samples. There was poor agreement of cervical and urine sample results in generic and type-specific detection of HPV. Urine samples provided the best diagnosis when taking cytological findings as reference. In conclusion including urine samples could be a good strategy for ensuring adherence to screening programs aimed at reducing the impact of cervical cancer, since this sample is easy to obtain and showed good diagnostic performance