The study was aimed at genetic characterization of Nigerian breeds of Muturu, N'Dama, and White Fulani cattle breeds at heat shock protein 90AB1 locus. Also, the goal of the study was to detect the presence of single nucleotide polymorphisms (SNPs) at HSP90AB1 locus and consequently recommend them as bio-markers for thermo-tolerance potentials in Nigerian cattle breeds when exposed to assaults of thermal conditions/heat shock of tropical environment. Based on the previously published potentials of this candidate gene to lower assaults of thermal conditions/heat shock such as heat stress, the detected SNPs of HSP90AB1 within the population of the Nigerian cattle in this study will be recommended for population-based screening with a view to genetically improving those zebu cattle breeds that are more vulnerable to heat shock and assaults of thermal conditions. Total number of 200 blood samples were randomly collected from White Fulani (84 samples), Muturu (73 samples), and N'Dama (43 samples) breeds of cattle. Out of these, 20 DNA samples were randomly selected from each of the three cattle breeds and were used for DNA extraction and downstream analyses to further confirm findings of previous study, hence the goal of our study. DNA was extracted from the blood samples using the Zymo-bead DNA extraction kit and DNA sequencing of our samples was performed. A total number of 9 SNPs (within exons 5-6 coding regions) and 11 SNPs (within exons 12-13 coding regions) were detected at HSP90AB1 locus using the codon code aligner software. ARLEQUIN 2.0001 software was used to estimate the basic population genetic statistics while the DnaSP version 5.10.01 was used to estimate the genetic diversity indices. This study detected new SNPs (polymorphic sites) at HSP90AB1 locus within the DNAs of Nigerian White Fulani (WF), Muturu (MU), and N'Dama (ND) breeds of cattle. Within exons 5-6 coding regions, the N'Dama (ND) cattle breed had the highest for number of SNPs (5) and genetic diversity indices while White Fulani (WF) and Muturu (MU) had the least (2) number of SNPs each. Within exons 12-13 coding regions, WF had the highest numbers of SNPs (7) and genetic diversity indices while MU had the least number of SNPs (1) and genetic diversity indices. Some of the detected SNPs at HSP90AB1 locus were shared among the three breeds, suggesting that these three Nigerian cattle breeds showed shared ancestral alleles and lineage. Our study further revealed that HSP90AB1 is highly polymorphic/variable and diverse among the three Nigerian cattle breeds examined. Based on the previously documented thermo-tolerance potentials of members of HSP90 sub-family including the findings of our study, we hypothesize therefore that the presence of SNPs of HSP90AB1 within the DNAs of these three breeds of Nigerian cattle (WF, ND, and MU) may confer them thermo-tolerance potentials for thermal assault conditions and heat shock of the tropics at HSP90AB1 locus. Therefore, the detected SNPs can be recommended as bio-markers to improve the thermo-tolerance potentials of Nigerian breeds of zebu cattle raised under the challenges of heat shock for better adaptation and survival.
Plant Breeding , Polymorphism, Single Nucleotide , Cattle/genetics , Animals , Exons , Alleles , DNA
Alzheimer's disease (AD) is the most common cause of dementia in older adults. Neuropathological and imaging studies have demonstrated a progressive and stereotyped accumulation of protein aggregates, but the underlying molecular and cellular mechanisms driving AD progression and vulnerable cell populations affected by disease remain coarsely understood. The current study harnesses single cell and spatial genomics tools and knowledge from the BRAIN Initiative Cell Census Network to understand the impact of disease progression on middle temporal gyrus cell types. We used image-based quantitative neuropathology to place 84 donors spanning the spectrum of AD pathology along a continuous disease pseudoprogression score and multiomic technologies to profile single nuclei from each donor, mapping their transcriptomes, epigenomes, and spatial coordinates to a common cell type reference with unprecedented resolution. Temporal analysis of cell-type proportions indicated an early reduction of Somatostatin-expressing neuronal subtypes and a late decrease of supragranular intratelencephalic-projecting excitatory and Parvalbumin-expressing neurons, with increases in disease-associated microglial and astrocytic states. We found complex gene expression differences, ranging from global to cell type-specific effects. These effects showed different temporal patterns indicating diverse cellular perturbations as a function of disease progression. A subset of donors showed a particularly severe cellular and molecular phenotype, which correlated with steeper cognitive decline. We have created a freely available public resource to explore these data and to accelerate progress in AD research at SEA-AD.org.
El conflicto armado en Colombia ha causado más de 8.746.541 sobrevivientes y efectos psicosociales e incidencia sobre la salud mental en los afectados. Los avances obtenidos en el mejoramiento del bienestar psicológico de los sobrevivientes por parte del Estado no son claros; sin embargo, la literatura evidencia que las condiciones socio-políticas que rodean a los sobrevivientes son poco favorables. Por lo expuesto, el estudio evaluó el bienestar psicológico de la población víctima del conflicto armado de siete municipios de Colombia, beneficiada por alguna medida de atención, asistencia y reparación de la ley 1448 de 2011. Por lo anterior, se utilizó un estudio descriptivo transversal y la escala de Bienestar psicológico de Ryff traducida al español; se obtuvieron los siguientes resultados: las dimensiones con mejor valoración fueron "propósitos en la vida" y "crecimiento personal"; dimensiones con calificaciones más bajas son "relaciones positivas" y "autonomía". se concluye que el bienestar psicológico es percibido mejor en función de plantearse metas para sí mismo y mostrar una mejora, pero que la autonomía se ve afectada, así como las relaciones positivas (desconfianza, construcción de relaciones nuevas cuando se es desplazado) por asuntos relacionados con el conflicto armado. Los hallazgos permitirán mejorar las acciones de atención.
The armed conflict in Colombia has caused more than 8,746,541 survivors and psychosocial effects and incidence on mental health in those affected. The advances obtained in the improvement of the psychological well-being of the survivors by the State are not clear; however, the literature shows that the socio-political conditions surrounding the survivors are unfavorable. Therefore, the study evaluated the psychological well-being of the population victim of the armed conflict in seven municipalities of Colombia, benefited by some measure of attention, assistance and reparation of law 1448 of 2011. Therefore, a cross-sectional descriptive study was used and Ryff's psychological well-being scale translated into Spanish; The following results were obtained: the dimensions with the best evaluation were "purposes in life" and "personal growth"; dimensions with lower ratings are "positive relationships" and "autonomy". it is concluded that psychological well-being is better perceived in terms of setting goals for oneself and showing improvement, but that autonomy is affected, as well as positive relationships (distrust, building new relationships when one is displaced) due to related issues with the armed conflict. The findings will improve the attention actions.
State Health Planning and Development Agencies
Resumen El conflicto armado Colombiano ha afectado la salud mental de las víctimas. La evaluación de la salud mental se realiza a partir del bienestar psicológico, la calidad de vida y el apoyo social percibido. Se indican resultados del Apoyo Social en 1139 víctimas de los municipios de Barrancabermeja, Trujillo, Bello, Montería y Santa Marta, mediante el cuestionario MOS de Apoyo Social, el cual se encuentra en un nivel alto influido por la dimensión de apoyo emocional. No se encontró una relación significativa con la calidad de vida y el bienestar psicológico, excepto en uno de los municipios de la muestra.
Abstract The Colombian armed conflict has affected victims' mental health. Mental health assessment is done from the psychological well-being, life quality and the perceived social support. Results of Social support are indicated in 1,139 victims of the municipalities of Barrancabermeja, Trujillo, Bello, Montería, and Santa Marta, by using the MOS questionnaire of social support, which is at a high level, which is influenced by the emotional support dimension. No significant relationship with the life quality and psychological well-being was found, except in one of the municipalities of the sample.
Resumen El presente trabajo tuvo como objetivo evaluar el El artículo se deriva de una investigación que buscaba identificar y describir los discursos acerca de lo psicosocial en los procesos de intervención en Colombia. Se analizaron 98 documentos, clasificados en: a) documentos del Estado; b) documentos de organizaciones No Gubernamentales; c) documentos teóricos de Intervención Psicosocial y d) documentos teóricos sobre lo psicosocial. Se asumió la Psicología Social como perspectiva disciplinar y la noción de discurso como elemento teórico y metodológico. Se utilizó el análisis de contenido categorial para obtener las categorías de análisis de los documentos disponibles en bases de datos científicas y en sitios web de instituciones estatales. Los resultados se centran en la categoría adjetivo. Se encontró que el uso de la palabra psicosocial como un adjetivo "intercambiable", configura expresiones ambiguas y poco claras para el entendimiento de la noción, creando un efecto redundante en su comprensión. Es necesario que exista claridad conceptual acerca de lo psicosocial en los procesos de intervención en Colombia, declarando las bases teóricas que sustentan el uso de la noción.
Abstract The article presents a study that aimed to identify and describe discourses about psychosocial components in intervention processes in Colombia. We analyzed 98 documents, classified as: a) State documents; b) Documents by Non-Governmental Organizations; c) Theoretical Documents on Psychosocial Intervention; and d) Theoretical documents on psychosocial components. Social Psychology was assumed as a disciplinary perspective and the notion of discourse as a theoretical and methodological element. Categorical content analysis was used to obtain the categories of analysis of the documents available in scientific databases and on websites of state institutions. The results focus on the adjective category. It was found that the use of the word psychosocial as an adjective "interchangeable", configures ambiguous and unclear expressions for the understanding of the notion, creating a redundant effect on their understanding.
Molecular heterogeneity in human breast cancer has challenged diagnosis, prognosis, and clinical treatment. It is well known that molecular subtypes of breast tumors are associated with significant differences in prognosis and survival. Assuming that the differences are attributed to subtype-specific pathways, we then suspect that there might be gene regulatory mechanisms that modulate the behavior of the pathways and their interactions. In this study, we proposed an integrated methodology, including machine learning and information theory, to explore the mechanisms. Using existing data from three large cohorts of human breast cancer populations, we have identified an ensemble of 16 master regulator genes (or MR16) that can discriminate breast tumor samples into four major subtypes. Evidence from gene expression across the three cohorts has consistently indicated that the MR16 can be divided into two groups that demonstrate subtype-specific gene expression patterns. For example, group 1 MRs, including ESR1, FOXA1, and GATA3, are overexpressed in luminal A and luminal B subtypes, but lowly expressed in HER2-enriched and basal-like subtypes. In contrast, group 2 MRs, including FOXM1, EZH2, MYBL2, and ZNF695, display an opposite pattern. Furthermore, evidence from mutual information modeling has congruently indicated that the two groups of MRs either up- or down-regulate cancer driver-related genes in opposite directions. Furthermore, integration of somatic mutations with pathway changes leads to identification of canonical genomic alternations in a subtype-specific fashion. Taken together, these studies have implicated a gene regulatory program for breast tumor progression.
Breast Neoplasms/genetics , Gene Expression Regulation, Neoplastic , Genes, Regulator , Adult , Cohort Studies , Disease Progression , Disease-Free Survival , Female , Gene Expression Profiling , Genes, Neoplasm , Humans , Machine Learning , Middle Aged , Mutation
BACKGROUND: Patient safety reporting systems are now used in most health care delivery organizations. These systems, such as the one in use at Virginia Mason (Seattle) since 2002, can provide valuable reports of risk and harm from the front lines of patient care. In response to the challenge of how to quantify and prioritize safety opportunities, a risk register system was developed and implemented. METHODS: Basic risk register concepts were refined to provide a systematic way to understand risks reported by staff. The risk register uses a comprehensive taxonomy of patient risk and algorithmically assigns each patient safety report to 1 of 27 risk categories in three major domains (Evaluation, Treatment, and Critical Interactions). For each category, a composite score was calculated on the basis of event rate, harm, and cost. The composite scores were used to identify the "top five" risk categories, and patient safety reports in these categories were analyzed in greater depth to find recurrent patterns of risk and associated opportunities for improvement. RESULTS: The top five categories of risk were easy to identify and had distinctive "profiles" of rate, harm, and cost. The ability to categorize and rank risks across multiple dimensions yielded insights not previously available. These results were shared with leadership and served as input for planning quality and safety initiatives. This approach provided actionable input for the strategic planning process, while at the same time strengthening the Virginia Mason culture of safety. CONCLUSIONS: The quantitative patient safety risk register serves as one solution to the challenge of extracting valuable safety lessons from large numbers of incident reports and could profitably be adopted by other organizations.
Documentation/methods , Patient Safety , Risk Management/organization & administration , Algorithms , Communication , Humans , Inservice Training/organization & administration , Organizational Culture , Risk Assessment , Safety Management/organization & administration
BACKGROUND: From 1994 to 2005, the Pediatric Perioperative Cardiac Arrest Registry collected data on 373 anesthesia-related cardiac arrests (CAs) in children, 34% of whom had congenital or acquired heart disease (HD). METHODS: Nearly 80 North American institutions that provide anesthesia for children voluntarily enrolled in the Pediatric Perioperative Cardiac Arrest Registry. A standardized data form for each perioperative CA in children 18 years old or younger was submitted anonymously. We analyzed causes of and outcomes from anesthesia-related CA in children with and without HD. RESULTS: Compared with the 245 children without HD, the 127 children with HD who arrested were sicker (92% vs 62% ASA physical status III-V; P < 0.01) and more likely to arrest from cardiovascular causes (50% vs 38%; P = 0.03), although often the exact cardiovascular cause of arrest could not be determined. Mortality was higher in patients with HD (33%) than those without HD (23%, P = 0.048) but did not differ when adjusted for ASA physical status classification. More than half (54%) of the CA in patients with HD were reported from the general operating room compared with 26% from the cardiac operating room and 17% from the catheterization laboratory. The most common category of HD lesion in patients suffering CA was single ventricle (n = 24). At the time of CA, most patients with congenital HD were either unrepaired (59%) or palliated (26%). Arrests in patients with aortic stenosis and cardiomyopathy were associated with the highest mortality rates (62% and 50%, respectively), although statistical comparison was precluded by small sample size for some HD lesions. CONCLUSIONS: Children with HD were sicker compared with those without HD at the time of anesthesia-related CA and had a higher mortality after arrest. These arrests were reported most frequently from the general operating room and were likely to be from cardiovascular causes. The identification of causes of and factors relating to anesthesia-related CA suggests possible strategies for prevention.
Anesthesia/adverse effects , Heart Arrest/chemically induced , Heart Arrest/epidemiology , Heart Diseases/complications , Intraoperative Complications/chemically induced , Intraoperative Complications/epidemiology , Adolescent , Canada/epidemiology , Cardiopulmonary Resuscitation , Child , Child, Preschool , Databases, Factual , Emergency Medical Services , Female , Heart Arrest/mortality , Heart Defects, Congenital/complications , Heart Defects, Congenital/epidemiology , Humans , Infant , Infant, Newborn , Intraoperative Complications/mortality , Male , Perioperative Care , Registries , Risk Factors , Treatment Outcome , United States/epidemiology
BACKGROUND: The initial findings from the Pediatric Perioperative Cardiac Arrest (POCA) Registry (1994-1997) revealed that medication-related causes, often cardiovascular depression from halothane, were the most common. Changes in pediatric anesthesia practice may have altered the causes of cardiac arrest in anesthetized children. METHODS: Nearly 80 North American institutions that provide anesthesia for children voluntarily enrolled in the Pediatric Perioperative Cardiac Arrest Registry. A standardized data form for each perioperative cardiac arrest in children
