25 research outputs found

    Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks : The GR@ACE project

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    Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series

    Colombian consensus recommendations for diagnosis, management and treatment of the infection by SARS-COV-2/ COVID-19 in health care facilities - Recommendations from expert´s group based and informed on evidence

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    La Asociación Colombiana de Infectología (ACIN) y el Instituto de Evaluación de Nuevas Tecnologías de la Salud (IETS) conformó un grupo de trabajo para desarrollar recomendaciones informadas y basadas en evidencia, por consenso de expertos para la atención, diagnóstico y manejo de casos de Covid 19. Estas guías son dirigidas al personal de salud y buscar dar recomendaciones en los ámbitos de la atención en salud de los casos de Covid-19, en el contexto nacional de Colombia

    Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

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    Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

    Comparing traditional and commercial nixtamalization of three maize landraces: impact on pozole quality and consumer acceptance

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    Abstract One of the most typical dishes of traditional Mexican cuisine is pozole, made with nixtamalized maize. This dish has a special place as part of the identity of Mexican culture. However, it is time-consuming to prepare. With an increasing demand for precooked maize for pozole and the limited information on its preparation process, this study aims to assess the impact of both traditional (TN) and commercial nixtamalization (CN) on the quality of processed maize and its reception by consumers, focusing on the three most popular maize landraces used in pozole recipes. This study was carried out with the Cacahuacintle (‘CAC’), Elotes Occidentales (‘EO’) and Ancho (‘AN’) landraces, which were nixtamalized using the traditional method (only lime) and the commercial method (lime + additives) and the grain was flowered. The quality of the flowered grain was determined, and a sensory analysis consisting of magnitude of difference tests, a descriptive analysis, affective test and evaluation of consumer preferences was carried out. The ‘CAC’ landrace, when processed traditionally, yielded the highest sensory and commercial quality. The ‘EO’ landrace demanded a longer flowering time, resulting in less volume but retaining the aleurone layer. This characteristic helped preserved a portion of the anthocyanins. Consistently, maize landraces subjected to traditional nixtamalization displayed higher ratings for attributes related to masa and nejayote aroma. The ‘CAC’ landrace subjected to CN faced challenges in acceptability due to odors of acetic acid and sulfuric acid. These findings underscore the importance and advantages the TN techniques. They also emphasize the need to preserve grain quality and meeting consumer preferences when exploring alternative maize processing methods for emerging markets

    Composición de la biomasa en una asociación de pasto señal con clitoria pastoreada a diferentes asignaciones de forraje

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    La asociación forrajera gramínea-leguminosa ha mostrado respuestas favorables bajo pastoreo; sin embargo, es  necesario evaluar su comportamiento en diferentes condiciones de manejo. El objetivo del estudio fue determinar la biomasapresente y su composición, en una pradera de pasto señal  asociado con clitoria en trópico seco, pastoreada a asignacionesde forraje de: 2.5, 4.0, 5.5 y 7.0 kg MS por 100 kg-1 PV día-1. La unidad experimental consistió en una pradera de 400 m2. Se utilizaron como defoliadores, becerros en pastoreo  rotacional con 3 días de ocupación y 42 de descanso, en la  época de lluvias. Las variables evaluadas fueron: biomasa total y sus componentes: pasto señal, clitoria, otras especies, hoja, tallo, vaina, y material vivo y material muerto. La distribución de los tratamientos en campo fue en un diseño de bloques al azar con cuatro repeticiones. Las alturas de gramínea y leguminosa, se modificaron por la asignación de forraje (P<0.05). Pastorear a una asignación de 2.5 kg MS por 100 kg-1 PV d-1, produjo más baja cantidad de biomasa (P<0.05) antes y después del pastoreo. El pasto señal y sus componentes estructurales fueron afectados por la asignación de forraje, pero no clitoria. Una asignación de 4.0 kg MS por 100 kg-1 PV d-1 es una opción para el mejor desempeño de esta asociación, permite conservar ambos componentes en comparación con la asignación de 5.5 y 7.0 kg MS por 100 kg-1 PV d-1; además, aporta mayor cantidad de hoja y material vivo de señal, similar a las asignaciones mayores

    The Microbial Composition in Circumneutral Thermal Springs from Chignahuapan, Puebla, Mexico Reveals the Presence of Particular Sulfur-Oxidizing Bacterial and Viral Communities

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    Terrestrial thermal springs are widely distributed globally, and these springs harbor a broad diversity of organisms of biotechnological interest. In Mexico, few studies exploring this kind of environment have been described. In this work, we explore the microbial community in Chignahuapan hot springs, which provides clues to understand these ecosystems&rsquo; diversity. We assessed the diversity of the microorganism communities in a hot spring environment with a metagenomic shotgun approach. Besides identifying similarities and differences with other ecosystems, we achieved a systematic comparison against 11 metagenomic samples from diverse localities. The Chignahuapan hot springs show a particular prevalence of sulfur-oxidizing bacteria from the genera Rhodococcus, Thermomonas, Thiomonas, Acinetobacter, Sulfurovum, and Bacillus, highlighting those that are different from other recovered bacterial populations in circumneutral hot springs environments around the world. The co-occurrence analysis of the bacteria and viruses in these environments revealed that within the Rhodococcus, Thiomonas, Thermonas, and Bacillus genera, the Chignahuapan samples have specific species of bacteria with a particular abundance, such as Rhodococcus erytropholis. The viruses in the circumneutral hot springs present bacteriophages within the order Caudovirales (Siphoviridae, Myoviridae, and Podoviridae), but the family of Herelleviridae was the most abundant in Chignahuapan samples. Furthermore, viral auxiliary metabolic genes were identified, many of which contribute mainly to the metabolism of cofactors and vitamins as well as carbohydrate metabolism. Nevertheless, the viruses and bacteria present in the circumneutral environments contribute to the sulfur cycle. This work represents an exhaustive characterization of a community structure in samples collected from hot springs in Mexico and opens opportunities to identify organisms of biotechnological interest

    Clinical characterization of data-driven diabetes subgroups in Mexicans using a reproducible machine learning approach

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    Introduction Previous reports in European populations demonstrated the existence of five data-driven adult-onset diabetes subgroups. Here, we use self-normalizing neural networks (SNNN) to improve reproducibility of these data-driven diabetes subgroups in Mexican cohorts to extend its application to more diverse settings.Research design and methods We trained SNNN and compared it with k-means clustering to classify diabetes subgroups in a multiethnic and representative population-based National Health and Nutrition Examination Survey (NHANES) datasets with all available measures (training sample: NHANES-III, n=1132; validation sample: NHANES 1999–2006, n=626). SNNN models were then applied to four Mexican cohorts (SIGMA-UIEM, n=1521; Metabolic Syndrome cohort, n=6144; ENSANUT 2016, n=614 and CAIPaDi, n=1608) to characterize diabetes subgroups in Mexicans according to treatment response, risk for chronic complications and risk factors for the incidence of each subgroup.Results SNNN yielded four reproducible clinical profiles (obesity related, insulin deficient, insulin resistant, age related) in NHANES and Mexican cohorts even without C-peptide measurements. We observed in a population-based survey a high prevalence of the insulin-deficient form (41.25%, 95% CI 41.02% to 41.48%), followed by obesity-related (33.60%, 95% CI 33.40% to 33.79%), age-related (14.72%, 95% CI 14.63% to 14.82%) and severe insulin-resistant groups. A significant association was found between the SLC16A11 diabetes risk variant and the obesity-related subgroup (OR 1.42, 95% CI 1.10 to 1.83, p=0.008). Among incident cases, we observed a greater incidence of mild obesity-related diabetes (n=149, 45.0%). In a diabetes outpatient clinic cohort, we observed increased 1-year risk (HR 1.59, 95% CI 1.01 to 2.51) and 2-year risk (HR 1.94, 95% CI 1.13 to 3.31) for incident retinopathy in the insulin-deficient group and decreased 2-year diabetic retinopathy risk for the obesity-related subgroup (HR 0.49, 95% CI 0.27 to 0.89).Conclusions Diabetes subgroup phenotypes are reproducible using SNNN; our algorithm is available as web-based tool. Application of these models allowed for better characterization of diabetes subgroups and risk factors in Mexicans that could have clinical applications

    Estudios multidisciplinarios en Ciencias de la Salud

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    Es una distinción, como miembro de la Comisión del Programa del Doctorado en Ciencias de la Salud de la Universidad Autónoma del Estado de México, presentar el libro titulado Estudios multidisciplinarios en Ciencias de la Salud, en el que distinguidos y reconocidos investigadores, entusiastas y comprometidos alumnos del programa nos dan a conocer los resultados de sus proyectos de investigación, trabajos que forman parte de los requisitos para acceder al grado de doctor. Entre las razones que invitan a la lectura del libro destaca su contenido conformado con la participación de autores en cuatro áreas en el campo de la salud: Odontología, Ciencias Médicas y Nutrición, Ciencias de la Conducta, y Enfermería y Obstetricia, quienes contribuyen a incrementar el acervo del conocimiento en cada área, en favor de la ciencia, la tecnología, y la salud física y mental de la población.Universidad Autónoma del Estado de México
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