Exploring allele specific methylation in drug dependence susceptibility

Drug dependence is a neuropsychiatric condition that involves genetic, epigenetic and environmental factors. Allele-specific methylation (ASM) is a common and stable epigenetic mechanism that involves genetic variants correlating with differential levels of methylation at CpG sites. We selected 182 single-nucleotide polymorphisms (SNPs) described to influence cis ASM in human brain regions to evaluate their possible contribution to drug dependence susceptibility. We performed a case-control association study in a discovery sample of 578 drug-dependent patients (including 428 cocaine-dependent subjects) and 656 controls from Spain, and then, we followed-up the significant associations in an independent sample of 1,119 cases (including 589 cocaine-dependent subjects) and 1,092 controls. In the discovery sample, we identified five nominal associations, one of them replicated in the follow-up sample (rs6020251). The pooled analysis revealed an association between drug dependence and rs6020251 but also rs11585570, both overcoming the Bonferroni correction for multiple testing. We performed the same analysis considering only cocaine-dependent patients and obtained similar results. The rs6020251 variant correlates with differential methylation levels of cg17974185 and lies in the first intron of the CTNNBL1 gene, in a genomic region with multiple histone marks related to enhancer and promoter regions in brain. Rs11585570 is an eQTL in brain and blood for the SCP2 and ECHDC2 genes and correlates with differential methylation of cg27535305 and cg13461509, located in the promoter regions of both genes. To conclude, using an approach that combines genetic and epigenetic data, we highlighted the CTNNBL1, SCP2 and ECHDC2 genes as potential contributors to drug dependence susceptibility

Step-Based Metrics and Overall Physical Activity in Children With Overweight or Obesity: Cross-Sectional Study

Background: Best-practice early interventions to increase physical activity (PA) in children with overweight and obesity should be both feasible and evidence based. Walking is a basic human movement pattern that is practical, cost-effective, and does not require complex movement skills. However, there is still a need to investigate how much walking—as a proportion of total PA level—is performed by children who are overweight and obese in order to determine its utility as a public health strategy. Objective: This study aimed to (1) investigate the proportion of overall PA indicators that are explained by step-based metrics and (2) study step accumulation patterns relative to achievement of public health recommendations in children who are overweight and obese. Methods: A total of 105 overweight and obese children (mean 10.1 years of age [SD 1.1]; 43 girls) wore hip-worn accelerometers for 7 days. PA volumes were derived using the daily average of counts per 15 seconds, categorized using standard cut points for light-moderate-vigorous PA (LMVPA) and moderate-to-vigorous PA (MVPA). Derived step-based metrics included volume (steps/day), time in cadence bands, and peak 1-minute, 30-minute, and 60-minute cadences. Results: Steps per day explained 66%, 40%, and 74% of variance for counts per 15 seconds, LMVPA, and MVPA, respectively. The variance explained was increased up to 80%, 92%, and 77% by including specific cadence bands and peak cadences. Children meeting the World Health Organization recommendation of 60 minutes per day of MVPA spent less time at zero cadence and more time in cadence bands representing sporadic movement to brisk walking (ie, 20-119 steps/min) than their less-active peers. Conclusions: Step-based metrics, including steps per day and various cadence-based metrics, seem to capture a large proportion of PA for children who are overweight and obese. Given the availability of pedometers, step-based metrics could be useful in discriminating between those children who do or do not achieve MVPA recommendations.MINECO (Ministerio de Economia y COmpetitividad)/FEDER (Fondo Europeo de DEsarrollo Regional) DEP2013-47540 DEP2016-79512-R RYC-2011-09011Spanish Ministry of Education, Culture and Sport FPU15/02645 FPU14/06837Spanish Ministry of Economy and Competitiveness BES-2014-068829European Union (EU) 667302University of Granada, Plan Propio de Investigacion 2016, Excellence action: Units of Excellence University of Granada, Plan Propio de Investigacion 2016, Excellence action: Unit of Excellence on Exercise and Health (UCEES)Junta de Andalucia SOMM17/6107/UGR RD16/0022Consejeria de Conocimiento, Investigacion y Universidades SOMM17/6107/UGR RD16/0022European Union (EU) SOMM17/6107/UGR RD16/0022SAMID III (red de SAlud Materno Infantil y Desarrollo) network, RETICS (REdes Tematicas de Investigacion Cooperativa en Salud) - PN (Plan Nacional) I+D+I (Investigacion + Desarrollo + Innovacion) 2017-2021 (Spain)ISCIII (Instituto de Salud Carlos III)-Sub-Directorate General for Research Assessment and Promotion DEP2005-00046/ACTIEXERNET Research Network on Exercise and Health in Special Populations DEP2005-00046/ACTIIntramural Research Program at the National Institute on Aging, US

Guía de actuación en las anomalías de la diferenciación sexual (ADS) / desarrollo sexual diferente (DSD)

Las anomalías de la diferenciación sexual (ADS) engloban un amplio espectro de discordancias entre los criterios cromosómico, gonadal y fenotípico (genital) que definen la diferenciación sexual; actualmente, se aboga por la denominación de «desarrollo sexual diferente» (DSD). Su origen es congénito; se clasifican en función de los cromosomas sexuales presentes en el cariotipo; las causas genéticas conocidas son muy diversas y heterogéneas, aunque algunos casos pueden ser secundarios a factores maternos o medioambientales. Su diagnóstico y tratamiento requieren siempre una atención médica y psicosocial multidisciplinar. El diagnóstico etiológico precisa la interacción entre las exploraciones clínicas, bioquímicas (hormonales), genéticas, de imagen y, eventualmente, quirúrgicas. El tratamiento debe abordar la asignación de género, la posible necesidad de tratamiento hormonal substitutivo (suprarrenal si hay insuficiencia suprarrenal y con esteroides sexuales si hay insuficiencia gonadal a partir de la edad puberal), la necesidad de intervenciones quirúrgicas sobre las estructuras genitales (actualmente se tiende a diferirlas) y/o sobre las gónadas (en función de los riesgos de malignización), la necesidad de apoyo psicosocial y, finalmente, una adecuada programación de la transición a la atención médica en las especialidades de adultos. Las asociaciones de personas afectadas tienen un papel fundamental en el apoyo a familias y la interacción con los medios profesionales y sociales. La utilización de Registros y la colaboración entre profesionales en Grupos de Trabajo de sociedades médicas nacionales e internacionales es fundamental para avanzar en mejorar los medios diagnósticos y terapéuticos que precisan los DSD.Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD

Antimicrobial resistance among migrants in Europe: a systematic review and meta-analysis

BACKGROUND: Rates of antimicrobial resistance (AMR) are rising globally and there is concern that increased migration is contributing to the burden of antibiotic resistance in Europe. However, the effect of migration on the burden of AMR in Europe has not yet been comprehensively examined. Therefore, we did a systematic review and meta-analysis to identify and synthesise data for AMR carriage or infection in migrants to Europe to examine differences in patterns of AMR across migrant groups and in different settings. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, PubMed, and Scopus with no language restrictions from Jan 1, 2000, to Jan 18, 2017, for primary data from observational studies reporting antibacterial resistance in common bacterial pathogens among migrants to 21 European Union-15 and European Economic Area countries. To be eligible for inclusion, studies had to report data on carriage or infection with laboratory-confirmed antibiotic-resistant organisms in migrant populations. We extracted data from eligible studies and assessed quality using piloted, standardised forms. We did not examine drug resistance in tuberculosis and excluded articles solely reporting on this parameter. We also excluded articles in which migrant status was determined by ethnicity, country of birth of participants' parents, or was not defined, and articles in which data were not disaggregated by migrant status. Outcomes were carriage of or infection with antibiotic-resistant organisms. We used random-effects models to calculate the pooled prevalence of each outcome. The study protocol is registered with PROSPERO, number CRD42016043681. FINDINGS: We identified 2274 articles, of which 23 observational studies reporting on antibiotic resistance in 2319 migrants were included. The pooled prevalence of any AMR carriage or AMR infection in migrants was 25·4% (95% CI 19·1-31·8; I2 =98%), including meticillin-resistant Staphylococcus aureus (7·8%, 4·8-10·7; I2 =92%) and antibiotic-resistant Gram-negative bacteria (27·2%, 17·6-36·8; I2 =94%). The pooled prevalence of any AMR carriage or infection was higher in refugees and asylum seekers (33·0%, 18·3-47·6; I2 =98%) than in other migrant groups (6·6%, 1·8-11·3; I2 =92%). The pooled prevalence of antibiotic-resistant organisms was slightly higher in high-migrant community settings (33·1%, 11·1-55·1; I2 =96%) than in migrants in hospitals (24·3%, 16·1-32·6; I2 =98%). We did not find evidence of high rates of transmission of AMR from migrant to host populations. INTERPRETATION: Migrants are exposed to conditions favouring the emergence of drug resistance during transit and in host countries in Europe. Increased antibiotic resistance among refugees and asylum seekers and in high-migrant community settings (such as refugee camps and detention facilities) highlights the need for improved living conditions, access to health care, and initiatives to facilitate detection of and appropriate high-quality treatment for antibiotic-resistant infections during transit and in host countries. Protocols for the prevention and control of infection and for antibiotic surveillance need to be integrated in all aspects of health care, which should be accessible for all migrant groups, and should target determinants of AMR before, during, and after migration. FUNDING: UK National Institute for Health Research Imperial Biomedical Research Centre, Imperial College Healthcare Charity, the Wellcome Trust, and UK National Institute for Health Research Health Protection Research Unit in Healthcare-associated Infections and Antimictobial Resistance at Imperial College London

Constraints on the χ_(c1) versus χ_(c2) polarizations in proton-proton collisions at √s = 8 TeV

The polarizations of promptly produced χ_(c1) and χ_(c2) mesons are studied using data collected by the CMS experiment at the LHC, in proton-proton collisions at √s=8  TeV. The χ_c states are reconstructed via their radiative decays χ_c → J/ψγ, with the photons being measured through conversions to e⁺e⁻, which allows the two states to be well resolved. The polarizations are measured in the helicity frame, through the analysis of the χ_(c2) to χ_(c1) yield ratio as a function of the polar or azimuthal angle of the positive muon emitted in the J/ψ → μ⁺μ⁻ decay, in three bins of J/ψ transverse momentum. While no differences are seen between the two states in terms of azimuthal decay angle distributions, they are observed to have significantly different polar anisotropies. The measurement favors a scenario where at least one of the two states is strongly polarized along the helicity quantization axis, in agreement with nonrelativistic quantum chromodynamics predictions. This is the first measurement of significantly polarized quarkonia produced at high transverse momentum

Reflexiones desde el Desarrollo Regional

Capítulo 1: Rescatando el patrimonio cultural regional. Contenido: "Divulgación de las prácticas socioculturales relacionadas con la conservación, reproducción y usos que se da al cohombro (sicana odorifera) en diferentes comunidades de la Región de Occidente, Costa Rica" de Anyerline Marín Alfaro; "La fotografía como recurso documental para la reconstrucción visual de espacios históricos de San Ramón, Alajuela de 1890 a 1924" de María Verónica Solano Araya y Gustavo Fernández Jiménez. Capítulo 2: Estudios literarios reginales. Contenido: "Leolinda Daltro: Mujer, educadora e indigenista del siglo XIX" de Khellen Cristina Pires Correia Soares y Beleni Salete Grando; "Paratextualidad y discursos en 'Un viaje con Margareth'" de Yordan Arroyo Carvajal. Capítulo 3: Retos para el desarrollo desde lo regional. Contenido: "Estado de la situación de las microempresas en tres distritos del cantón de San Ramón, Alajuela" de Jeannette Morales Zumbado; "Capacidades de gobernanza e institucionalidad en los Consejos Cantonales de Coordinación Institucional" de Raúl Fonseca Hernández, Ana Cristina Quesada Monge y Ginnette Espinoza Palma; "Teorización de la propuesta de Desarrollo Humano Sostenible Local" de Ana Cristina Quesada Monge, Raúl Fonseca Hernández y María Fernanda Cortés Víquez. Capítulo 4: Medio ambiente y desarrollo. Contenido: "Gestión integrada del recurso hídrico (GIRH) y cambio climático en la parte alta de la microcuenca del río Poás, Alajuela (2019-2020)" de María José Chassoul Acosta, Ana Lorena Salmerón Alpízar y Rolando Alberto Marín León; "Estado de situación de las Organizaciones Comunitarias de Servicios de Agua y Saneamiento (OCSAS) en el cantón de San Ramón, Alajuela" de Adriana Muñoz Amores, Ana Carolina Méndez Montero y Jéssica Alejandra Mora Moya. Capítulo 5: Realidades socioeducativas. Contenido: "Competencias culturales en docentes y éxito académico en colegiales de diferentes orígenes étnico-culturales" de Carlos Yurán Chavarría Carranza; "Narrativas sexistas en el trap latinoamericano: Lenguaje, representaciones y apropiación" de Keylor Robles Murillo. Capítulo 6: En busca del bienestar de la población adulta mayor. Contenido: "La protección constitucional brasileña de la persona adulta mayor" de Juliana Mara Nespolo, Rodrigo Bordin y Maria de Lourdes Bernartt; "Danza, escritura y autobiografía en personas adultas mayores" de Andrea Molina Ovares y Damián Herrera González.El Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales busca, por medio de actividades académicas como coloquios internacionales, reunir a personas investigadoras de las sedes regionales de la Universidad de Costa Rica y de otras instituciones de educación superior a nivel nacional, regional e internacional, con el fin de propiciar encuentros de saberes que permitan compartir experiencias académicas e investigativas relacionadas con diversidad cultural y estudios regionales. Asimismo, gracias a su compromiso de contribuir en la comprensión y visibilización de los procesos culturales y los imaginarios regionales desde perspectivas inter, trans y multidisciplinarias para aportar al desarrollo integral de los distintos grupos humanos que conforman las sociedades actuales, realiza la divulgación de los hallazgos de este tipo de investigaciones, a través de publicaciones especiales. Es así como la presente publicación, derivada del VI Coloquio Internacional sobre Diversidad Cultural y Estudios Regionales desarrollado por el CIDICER en septiembre de 2021, compila trece artículos y ensayos, los cuales están organizados en seis capítulos que responden a diferentes áreas temáticasUniversidad de Costa Rica/[836-C0-723]/UCR/Costa RicaUCR::Sedes Regionales::Sede de Occidente::Recinto San Ramón::Centro de Investigaciones sobre Diversidad Cultural y Estudios Regionales (CIDICER

Enfermedades crónicas

Adherencia al tratamiento farmacológico y relación con el control metabólico en pacientes con DM2Aluminio en pacientes con terapia de reemplazo renal crónico con hemodiálisis en Bogotá, ColombiaAmputación de extremidades inferiores: ¿están aumentando las tasas?Consumo de edulcorantes artificiales en jóvenes universitariosCómo crecen niños normales de 2 años que son sobrepeso a los 7 añosDiagnóstico con enfoque territorial de salud cardiovascular en la Región MetropolitanaEfecto a corto plazo de una intervención con ejercicio físico, en niños con sobrepesoEfectos de la cirugía bariátrica en pacientes con síndrome metabólico e IMC < 35 KG/M2Encuesta mundial de tabaquismo en estudiantes de profesiones de saludEnfermedades crónicas no transmisibles: Consecuencias sociales-sanitarias de comunidades rurales en ChileEpidemiología de las muertes hospitalarias por patologías relacionadas a muerte encefálica, Chile 2003-2007Estado nutricional y conductas alimentarias en adolescentes de 4º medio de la Región de CoquimboEstudio de calidad de vida en una muestra del plan piloto para hepatitis CEvaluación del proceso asistencial y de resultados de salud del GES de diabetes mellitus 2Factores de riesgo cardiovascular en población universitaria de la Facsal, universidad de TarapacáImplicancias psicosociales en la génesis, evolución y tratamiento de pacientes con hipertensión arterial esencialInfarto agudo al miocardio (IAM): Realidad en el Hospital de Puerto Natales, 2009-2010Introducción de nuevas TIC y mejoría de la asistencia a un programa de saludNiños obesos atendidos en el Cesfam de Puerto Natales y su entorno familiarPerfil de la mortalidad por cáncer de cuello uterino en Río de JaneiroPerfil del paciente primo-consultante del Programa de Salud Cardiovascular, Consultorio Cordillera Andina, Los AndesPrevalencia de automedicación en mujeres beneficiarias del Hospital Comunitario de Til-TiPrevalencia de caries en población preescolar y su relación con malnutrición por excesoPrevalencia de retinopatía diabética en comunas dependientes del Servicio de Salud Metropolitano Occidente (SSMOC)Problemas de adherencia farmacológica antihipertensiva en población mapuche: Un estudio cualitativoRol biológico de los antioxidantes innatos en pacientes portadores de VIH/SidaSobrepeso en empleados de un restaurante de una universidad pública del estado de São Paul

Geography and ecology shape the phylogenetic composition of Amazonian tree communities

AimAmazonia hosts more tree species from numerous evolutionary lineages, both young and ancient, than any other biogeographic region. Previous studies have shown that tree lineages colonized multiple edaphic environments and dispersed widely across Amazonia, leading to a hypothesis, which we test, that lineages should not be strongly associated with either geographic regions or edaphic forest types.LocationAmazonia.TaxonAngiosperms (Magnoliids; Monocots; Eudicots).MethodsData for the abundance of 5082 tree species in 1989 plots were combined with a mega-phylogeny. We applied evolutionary ordination to assess how phylogenetic composition varies across Amazonia. We used variation partitioning and Moran's eigenvector maps (MEM) to test and quantify the separate and joint contributions of spatial and environmental variables to explain the phylogenetic composition of plots. We tested the indicator value of lineages for geographic regions and edaphic forest types and mapped associations onto the phylogeny.ResultsIn the terra firme and várzea forest types, the phylogenetic composition varies by geographic region, but the igapó and white-sand forest types retain a unique evolutionary signature regardless of region. Overall, we find that soil chemistry, climate and topography explain 24% of the variation in phylogenetic composition, with 79% of that variation being spatially structured (R2 = 19% overall for combined spatial/environmental effects). The phylogenetic composition also shows substantial spatial patterns not related to the environmental variables we quantified (R2 = 28%). A greater number of lineages were significant indicators of geographic regions than forest types.Main ConclusionNumerous tree lineages, including some ancient ones (>66 Ma), show strong associations with geographic regions and edaphic forest types of Amazonia. This shows that specialization in specific edaphic environments has played a long-standing role in the evolutionary assembly of Amazonian forests. Furthermore, many lineages, even those that have dispersed across Amazonia, dominate within a specific region, likely because of phylogenetically conserved niches for environmental conditions that are prevalent within regions

Geography and ecology shape the phylogenetic composition of Amazonian tree communities

Aim: Amazonia hosts more tree species from numerous evolutionary lineages, both young and ancient, than any other biogeographic region. Previous studies have shown that tree lineages colonized multiple edaphic environments and dispersed widely across Amazonia, leading to a hypothesis, which we test, that lineages should not be strongly associated with either geographic regions or edaphic forest types. Location: Amazonia. Taxon: Angiosperms (Magnoliids; Monocots; Eudicots). Methods: Data for the abundance of 5082 tree species in 1989 plots were combined with a mega-phylogeny. We applied evolutionary ordination to assess how phylogenetic composition varies across Amazonia. We used variation partitioning and Moran\u27s eigenvector maps (MEM) to test and quantify the separate and joint contributions of spatial and environmental variables to explain the phylogenetic composition of plots. We tested the indicator value of lineages for geographic regions and edaphic forest types and mapped associations onto the phylogeny. Results: In the terra firme and várzea forest types, the phylogenetic composition varies by geographic region, but the igapó and white-sand forest types retain a unique evolutionary signature regardless of region. Overall, we find that soil chemistry, climate and topography explain 24% of the variation in phylogenetic composition, with 79% of that variation being spatially structured (R$^{2}$ = 19% overall for combined spatial/environmental effects). The phylogenetic composition also shows substantial spatial patterns not related to the environmental variables we quantified (R$^{2}$ = 28%). A greater number of lineages were significant indicators of geographic regions than forest types. Main Conclusion: Numerous tree lineages, including some ancient ones (>66 Ma), show strong associations with geographic regions and edaphic forest types of Amazonia. This shows that specialization in specific edaphic environments has played a long-standing role in the evolutionary assembly of Amazonian forests. Furthermore, many lineages, even those that have dispersed across Amazonia, dominate within a specific region, likely because of phylogenetically conserved niches for environmental conditions that are prevalent within regions