Knowledge, Attitudes, and Practices Regarding Air Pollution among Medical Students.

Background: Air pollution has emerged as a global public health concern. Specifically, in Medellín, Colombia, episodes of elevated air pollution have been documented. Medical students' knowledge of air pollution is paramount for implementing future interventions directed toward patients. The aim of this research was to delineate the knowledge, attitudes, and practices regarding air pollution among medical students at a private university in Medellín. Methods: A cross-sectional study involving 352 medical students was conducted. A questionnaire was administered, generating scores ranging from 0 to 100, where a higher score signified better knowledge, attitudes, and practices. Data were analyzed using frequencies, summary measures, non-parametric tests, and linear regression. Results: In total, 31% rated the education received at the university on the relationship between health and air quality as fair to poor, and 81% perceived the air quality in the city as poor. The knowledge score was 77.8 (IQR 71.1-85.6), with 90% acknowledging that exposure to air pollution increases the risk of various diseases. The attitudes score was 82.1 (IQR 71.8-87.2), and 25.9% believed that air pollution is a multifactorial problem, rendering their actions ineffective. In terms of practices, the score was 50 (IQR 42.9-57.1), indicating that students either did not employ protective measures against pollution or used inappropriate practices such as masks or air purifiers. Regression analysis revealed no association between knowledge and practices. Conclusion: The findings of this study underscore that medical students possess commendable knowledge regarding the health effects of air pollution. However, their adoption of inappropriate practices for self-protection is evident. The lack of correlation between knowledge and practices highlights the necessity of educational initiatives to be complemented by regulatory and cultural interventions.

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG.

PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease of variable severity that particularly affects the nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there is no effective treatment. We performed an RNA-seq based transcriptomic study using patient-derived fibroblasts to gain insight into the mechanisms underlying the clinical symptomatology and to identify druggable targets. Systems biology methods were used to identify cellular pathways potentially affected by PMM2 deficiency, including Senescence, Bone regulation, Cell adhesion and Extracellular Matrix (ECM) and Response to cytokines. Functional validation assays using patients' fibroblasts revealed defects related to cell proliferation, cell cycle, the composition of the ECM and cell migration, and showed a potential role of the inflammatory response in the pathophysiology of the disease. Furthermore, treatment with a previously described pharmacological chaperone reverted the differential expression of some of the dysregulated genes. The results presented from transcriptomic data might serve as a platform for identifying therapeutic targets for PMM2-CDG, as well as for monitoring the effectiveness of therapeutic strategies, including pharmacological candidates and mannose-1-P, drug repurposing.

Exploring miRNA-target gene pair detection in disease with coRmiT.

A wide range of approaches can be used to detect micro RNA (miRNA)-target gene pairs (mTPs) from expression data, differing in the ways the gene and miRNA expression profiles are calculated, combined and correlated. However, there is no clear consensus on which is the best approach across all datasets. Here, we have implemented multiple strategies and applied them to three distinct rare disease datasets that comprise smallRNA-Seq and RNA-Seq data obtained from the same samples, obtaining mTPs related to the disease pathology. All datasets were preprocessed using a standardized, freely available computational workflow, DEG_workflow. This workflow includes coRmiT, a method to compare multiple strategies for mTP detection. We used it to investigate the overlap of the detected mTPs with predicted and validated mTPs from 11 different databases. Results show that there is no clear best strategy for mTP detection applicable to all situations. We therefore propose the integration of the results of the different strategies by selecting the one with the highest odds ratio for each miRNA, as the optimal way to integrate the results. We applied this selection-integration method to the datasets and showed it to be robust to changes in the predicted and validated mTP databases. Our findings have important implications for miRNA analysis. coRmiT is implemented as part of the ExpHunterSuite Bioconductor package available from https://bioconductor.org/packages/ExpHunterSuite.

Assessment of quadriceps muscle mass by ultrasound in the postoperative period of cardiac surgery.

BACKGROUND: Patients undergoing cardiac surgery are exposed to many factors that activate catabolic and inflammatory pathways, which affect skeletal muscle and are, therefore, related to unfavorable hospital outcomes. Given the limited information on the behavior of muscle mass in critically ill patients, the objective of this study was to evaluate the impact on quantitative and qualitative measurements of quadriceps muscle mass using ultrasound after cardiac surgery. To accomplish this, a prospective, descriptive, and correlational study was conducted at a tertiary care hospital. Quadriceps muscle mass was evaluated via ultrasound in 31 adult patients in the postoperative period of cardiac surgery, with daily follow-up until postoperative day 7, as well as an assessment of associations with negative outcomes at 28 days. RESULTS: A 16% reduction in the cross-sectional area of the rectus femoris was found (95% CI 4.2-3.5 cm2; p 0.002), as well as a 24% reduction in the pennation angle of the rectus femoris (95% CI 11.1-8.4 degrees; p: 0.025). However, changes in the thickness of the rectus femoris, vastus internus, vastus lateralis, the length of the fascicle of the vastus lateralis, the pennation angle of the vastus lateralis, the sarcopenia index, and the Hekmat score were not statistically significant. There was no significant association between quadriceps muscle mass measurements and Intensive Care Unit (ICU) length stay or 28-day mortality. CONCLUSIONS: Patients in the postoperative period of cardiac surgery evaluated by ultrasound exhibit both quantitative and qualitative changes in quadriceps muscle mass. A significant reduction in muscle mass is observed but this is not associated with unfavorable outcomes.

Static Postural Control during Single-Leg Stance in Endurance, Team and Combat Athletes from the Spanish National Sport Technification Program.

In the context of pediatric physical exercise, the analysis of factors affecting postural control (PC) provides insight into the development of sport-specific motor skills. This study aims to evaluate the static PC during single-leg stance in endurance, team and combat athletes from the Spanish National Sport Technification Program. A total of 29 boys and 32 girls, aged 12 to 16 years old, were recruited. Centre of pressure (CoP) was measured on a force platform in standing position for 40 s under two sensorial and leg dominance conditions. Girls showed lower MVeloc (p < 0.001), MFreq (p > 0.001) and Sway (p < 0.001) values than boys in both sensorial conditions (open and closed eyes). The highest values in all PC variables were observed with eyes closed in both genders (p < 0.001). Sway values were lower in boys combat-athletes compared to endurance athletes in two sensorial conditions and with non-dominant leg (p < 0.05). Young athletes in their teens enrolled in a Sport Technification Program have shown differences in PC when comparing different visual conditions, sport disciplines and gender. This study opens a window to a better understanding of the determinants of PC during single-leg stance as a critical element in the sport specialization of young athletes.

Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.

OBJECTIVE: Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in view of collagen disorganization typically present in tendon pathologies. DESIGN: A case-control, genotype-phenotype association study. SETTING: La Ribera Hospital, Valencia, Spain. PARTICIPANTS: A group of 137 young athletes (49 with rotator cuff tendon pathology and 88 healthy counterparts) who played upper-limb-loading sports were clinically and ultrasound (US) assessed for rotator cuff tendinopathy were included. INTERVENTION: Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype. MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy. RESULTS: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ 2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26. CONCLUSION: A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.

Vínculos, autonomía y salud mental en adultos jóvenes del proceso de reintegración en Colombia / Bonds, autonomy and mental health in young adults of the reintegration process in Colombia

Este artículo busca explorar la construcción de los vínculos, su relación con el desarrollo de la autonomía y las problemáticas de salud mental de adultos jóvenes excombatientes de grupos armados que hacen parte del proceso de reintegración en Colombia. Se analizaron 3977 registros de la Encuesta Multimodal Psicosocial (EMP) correspondientes a adultos jóvenes entre los 18 y 24 años, que fueron aplicadas en desarrollo del proceso de reincorporación. Se aplicaron dos métodos de análisis estadísticos complementarios: el método de Componentes Principales (ACP) y un método Jerárquico aglomerativo. En el análisis de los procesos vinculares se encontró que en un grupo alrededor de un 80 % de los casos registra haber experimentado rupturas vinculares importantes a causa de la violencia, el abandono temprano y/o vivir en contextos de conflicto y violencia. En cuanto al análisis de los procesos de autonomía, se encontró que un grupo correspondiente al 70 % reporta no contar con las capacidades para garantizar su autonomía y calidad de vida, pasando por condiciones de precarización laboral con riesgo a incurrir en redes de delincuencia. Y un 39 % reporta coincidir alta disposición de riesgo en sus procesos vinculares y de autonomía.

This article seeks to explore the construction of bonds, their relation with the development of autonomy and the mental health problems of young adult ex-combatants of armed groups who are part of the reintegration process in Colombia. A total of 3977 records of the Psychosocial Multimodal Questionnaire (PMS) corresponding to young adults between 18 and 24 years old, which were applied in the development of the reincorporation process, were analyzed. Two complementary statistical analysis methods were applied: The Principal Components Method (PCA) and an agglomerative Hierarchical method. In the analysis of bonding processes, it was found that, in one group, about 80% of the cases recorded having experienced significant bonding ruptures due to violence, early abandonment and/or living in contexts of conflict and violence. Regarding the analysis of the processes of autonomy, a group corresponding to 70% reported not having the capacities to guarantee their autonomy and quality of life, going through conditions of job insecurity with the risk of incurring in criminal networks. And 39% report a high risk disposition in their relationship and autonomy processes.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.

Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology for confirming cases detected by clinical/biochemical studies or newborn screening. The diagnosis rate is, however, still not 100%. This paper reports the use of a personalized multi-omics (metabolomic, genomic and transcriptomic) pipeline plus functional genomics to aid in the genetic diagnosis of six unsolved cases, with a clinical and/or biochemical diagnosis of galactosemia, mucopolysaccharidosis type I (MPS I), maple syrup urine disease (MSUD), hyperphenylalaninemia (HPA), citrullinemia, or urea cycle deficiency. Eight novel variants in six genes were identified: six (four of them deep intronic) located in GALE, IDUA, PTS, ASS1 and OTC, all affecting the splicing process, and two located in the promoters of IDUA and PTS, thus affecting these genes' expression. All the new variants were subjected to functional analysis to verify their pathogenic effects. This work underscores how the combination of different omics technologies and functional analysis can solve elusive cases in clinical practice.

Efectos adversos de la exposición prenatal al material particulado del aire sobre el feto y el recién nacido

El material particulado (PM) es un grupo de elementos sólidos y líquidos producidos por diferentes actividades antropogénicas y naturales, que son emitidos directamente al aire. Tiene diferentes propiedades fisicoquímicas y termodinámicas y según su diámetro aerodinámico se puede clasificar en PM10 (<10 µm), PM2.5 (<2.5 µm) y PM0.1 (<0.1 µm); pueden inhalarse y llegar desde los pulmones a otros órganos, causando enfermedades respiratorias, cardiovasculares y neurológicas, entre otras. Considerando que el feto es susceptible a contaminantes atmosféricos a través de la exposición gestacional y que las perturbaciones en la vida temprana son cruciales para el desarrollo, el PM puede causar complicaciones, incluyendo parto prematuro, bajo peso al nacer y daños neuropsicológicos, entre otras. Esta revisión resume evidencia epidemiológica que demuestra la relación entre la exposición materna a PM y los resultados adversos en el desarrollo del feto, el nacimiento y la infancia, así como algunos mecanismos moleculares que podrían explicar estas asociaciones.

Summary Particulate matter (PM) is a group of solid and liquid elements produced by different anthropogenic and natural activities, which are emitted directly into the air. It has different physicochemical and thermodynamic properties and according to its aerodynamic diameter, it can be classified as PM10 (<10 µm), PM2.5 (<2.5 µm) and PM0.1 (<0.1 µm). It can be inhaled and reach other organs from the lungs, causing respiratory, cardiovascular and neurological diseases, among others. Considering that the foetus is susceptible to air pollutants such as PM through gestational exposure, and that early life disturbances are crucial for development, PM can cause various disorders or complications including premature birth, low birth weight and neuropsychological damage, among others. This review summarizes the epidemiological evidence that demonstrates the relationship between maternal exposure to PM and adverse outcomes in foetal development, birth, and childhood, as well as some molecular mechanisms that could explain these associations.

Factores que afectan la meta calórica en pacientes de cuidados intensivos con insuficiencia o falla intestinal. Revisión sistemática / Factors affecting caloric goal in intensive care patients with intestinalinsufficiency or failure. Systematic review

Introducción: La insuficiencia y falla intestinal hacenparte de la disfunción gastrointestinal y ocurren en cerca del60% de los pacientes hospitalizados en cuidado intensivo, locual afecta el cumplimiento de las metas nutricionales. Objetivo: Establecer los factores que afectan el cumpli-miento de la meta calórica del soporte nutricional en pa-cientes de cuidado intensivo con insuficiencia o falla intes-tinal. Métodos: Se consultó en las bases de datos de MEDLINE,SCOPUS y COCHRANE, desde enero del 2015 hasta septiem-bre del 2020, sobre meta calórica e insuficiencia y falla intes-tinal en pacientes críticos. Dos investigadores realizaron labúsqueda, aplicaron los criterios de selección, extrajeron losdatos, y evaluaron la calidad metodológica de los estudios. Sehizo una matriz de comparación para los artículos encontra-dos y se evaluó su validez. Resultados: Los artículos evaluados fueron heterogeneose incluyeron pacientes críticos con diferentes trastornos gas-trointestinales. Los determinantes identificados como factoresque afectan la meta calórica fueron: intolerancia gástrica, nutrición postpilórica, uso de opioides, uso de proquinéticos,diarrea y equipo multidisciplinario. Conclusiones: Esta revisión, resalta la ausencia de pará-metros validados para calificar la insuficiencia o falla intesti-nal en pacientes con enfermedades críticas. Los seis aspectosidentificados que afectan el cumplimiento de la meta calóricase deben evaluar prospectivamente en esta población.(AU)

Introduction: Insufficiency and intestinal failure are partof gastrointestinal dysfunction and the occurrence of some ofthese situations is frequent in about 60% of patients hospi-talized in intensive care, which affects the fulfillment of nutri-tional goals. Objective: To establish the factors that affect the fulfill-ment of the caloric goal of nutritional support in intensive carepatients with intestinal insufficiency or failure. Methods: The MEDLINE, SCOPUS and COCHRANE data-bases were consulted, from January 2015 to September2020, on caloric goal and intestinal insufficiency and failure incritically ill patients. Two investigators conducted the search,applied the selection criteria, extracted the data, and as-sessed the methodological quality of the studies. A comparison matrix was made for the articles found and its validity wasevaluated. Results: The articles evaluated included critical patients,but with different gastrointestinal disorders according to thecut-off points used in each one. The determinants identifiedas factors that affect caloric goal were: gastric intolerance,post-pyloric nutrition, use of opioids, use of prokinetics, diar-rhea, and multidisciplinary team. No unified parameters werefound to measure caloric goal and intestinal insufficiency orfailure in most of the studies. Discussion: The articles evaluated were heterogeneousand included critical patients with different gastrointestinaldisorders. The determinants identified as factors that affectcaloric goal were: gastric intolerance, post-pyloric nutrition,use of opioids, use of prokinetics, diarrhea, and multidiscipli-nary team. Conclusions: This review highlights the absence of vali-dated parameters to qualify intestinal insufficiency or failurein critically ill patients. The six identified aspects that affectthe fulfillment of the caloric goal should be evaluatedprospectively in this population.

Evaluación de un sistema experto para el soporte nutricional enteral en pacientes críticos con disfunción gastrointestinal / Evaluation of an expert system for enteral nutritional support in critically illpatients with gastrointestinal dysfunction

Antecedentes: La medicina y la nutrición han empleadoherramientas informáticas para apoyar la toma de decisionesque mejore la atención de los pacientes. Un sistema expertoes una de estas herramientas que puede guiar a los usuariosen el manejo de una problemática específica. La adhesión aguías de práctica clínica para el manejo nutricional de pacientes con disfunción gastrointestinal optimiza el tratamiento médico y nutricional de pacientes críticos, posibilitando su recuperación. El empleo de un sistema experto quefacilite esta adherencia, puede mejorar el desenlace clínicode los pacientes. Objetivo: Evaluar sí un sistema experto desarrollado comouna herramienta para mejorar la adhesión de los médicos alas guías internacionales y apoyar en la toma de decisiones,mejora el manejo del soporte nutricional en pacientes con disfunción gastrointestinal. Métodos: Entre junio de 2020 y enero de 2021 se recolectó la información médica de los pacientes críticos con disfunción gastrointestinal del Hospital Santa Sofía de Caldas. El estudio constó de dos tratamientos experimentales, uno el de pacientes tratados con la ayuda del sistema experto y el otro, de pacientes tratados sin la ayuda del sistema experto, considerado como grupo Control. Los datos fueron recolec-tados durante los primeros cuatro meses del estudio, sinayuda del sistema experto y en los cuatro meses posteriores, la atención nutricional fue apoyada con el empleo del sistemaexperto. Resultados: Hubo diferencia estadística significativa (p =0,0001) entre tratamientos en las variables metas calórica yproteica, e inicio de nutrición enteral. Los pacientes tratadoscon la ayuda del sistema experto presentaron mayor cumplimiento en metas calórica y proteica y, menor tiempo de iniciode la nutrición enteral. Conclusiones: el uso del sistema experto presenta asociación con una mejor adherencia a las recomendaciones delas guías internacionales, mejorando la tolerancia y el suministro del soporte nutricional enteral.(AU)

Background: Medicine and nutrition have used computertools to support decisionmaking that improves patient care.An expert system is one of these tools that can guide users inhandling a specific problem. Adherence to clinical practiceguidelines for the nutritional management of patients with gastrointestinal dysfunction optimizes the medical and nutritional treatment of critically ill patients, enabling their recovery. The use of an expert system that facilitates this adherence can improve the clinical outcome of patients. Objective: To evaluate whether an expert system developed as a tool to improve the adherence of physicians to international guidelines and to support decision making improves the management of nutritional support in patients withgastrointestinal dysfunction. Methods: Between June 2020 and January 2021, medical information was collected from critically ill patients withgastrointestinal dysfunction at Hospital Santa Sofía deCaldas. The study consisted of two experimental treatments, one of patients treated with the help of the expertsystem and the other of patients treated without the helpof the expert system, considered as a Control group. Datawere collected during the first four months of the study,without the help of the expert system, and in the four subsequent months, nutritional care was supported with theuse of the expert system. Results: There was a statistically significant difference(p = 0.0001) between treatments in the caloric and proteingoals variables, and start of enteral nutrition. The patientstreated with the help of the expert system presented highercompliance with caloric and protein goals and a shorterstart time for enteral nutrition. Conclusions: the use of the expert system is associatedwith better adherence to the recommendations of international guidelines, improving tolerance and the provision of enteral nutritional support.(AU)

Child maltreatment: qualitative review of theoretical and methodological trends in intervention programs with an attachment perspective

Abstract. This review provides a qualitative comparative analysis of theoretical and methodological aspects of 27 studies in which the results of the implementation of programs involved in child maltreatment are presented with an attachment perspective. The studies were examined following the Scottish Intercollegiate Guidelines Network. It was found that the programs promote the development of maternal sensitivity, mentalization or reflective functioning and empathy, however, the underlying mechanisms are not differentiated according to the type of abuse to intervene. Likewise, it was found that despite the recognition of the mother's violent childhood experiences as one of the main predisposing factors for child abuse, it is a variable that is scarcely considered in the programs examined. These findings indicate the importance of developing intervention programs that consider a cumulative ecological risk perspective.

Comparison among plaque assay, tissue culture infectious dose (TCID50) and real-time RT-PCR for SARS-CoV-2 variants quantification.

Background and Objectives: SARS-CoV-2 variants of concern (VOC) and interest (VOI) pose a significant threat to public health because the rapid change in the SARS-CoV-2 genome can alter viral phenotypes such as virulence, transmissibility and the ability to evade the host response. Hence, SARS-CoV-2 quantification techniques are essential for timely diagnosis and follow-up. Besides, they are vital to understanding viral pathogenesis, antiviral evaluation, and vaccine development. Materials and Methods: Five isolates of SARS-CoV-2: D614G strain (B.1), three VOC (Alpha, Gamma and Delta), and one VOI (Mu) were used to compare three techniques for viral quantification, plaque assay, median tissue culture infectious dose (TCID50) and real-time RT-PCR. Results: Plaque assay showed viral titers between 0.15 ± 0.01×107 and 1.95 ± 0.09×107 PFU/mL while viral titer by TCID50 assay was between 0.71 ± 0.01×106 to 4.94 ± 0.80×106 TCID50/mL for the five SARS-CoV-2 isolates. The PFU/mL titer obtained by plaque and the calculated from TCID50 assays differed by 0.61 log10, 0.59 log10, 0.59 log10 and 0.96 log10 for Alfa, Gamma, Delta, and Mu variants (p≤0.0007), respectively. No differences were observed for the D614G strain. Real-time PCR assay exhibited titers ranging from 0.39 ± 0.001×108 to 3.38 ± 0.04×108 RNA copies/µL for all variants. The relation between PFU/mL and RNA copies/mL was 1:29800 for D614G strain, 1:11700 for Alpha, 1:8930 for Gamma, 1:12500 for Delta, and 1:2950 for Mu. Conclusion: TCID50 assay was comparable to plaque assay for D614G but not for others SARS-CoV-2 variants. Our data demonstrated a correlation among PFU/mL and E gene RNA copies/µL, units of measure commonly used to quantify the viral load in diagnostic and research fields. The results suggest that the proportion of infectious virions in vitro changes depending on the SARS-CoV-2 variant, being Mu, the variant reaching a higher viral titer with fewer viral copies.

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

Exhaustive and comprehensive analysis of pathological traits is essential to understanding genetic diseases, performing precise diagnosis and prescribing personalized treatments. It is particularly important for disease cohorts, as thoroughly detailed phenotypic profiles allow patients to be compared and contrasted. However, many disease cohorts contain patients that have been ascribed low numbers of very general and relatively uninformative phenotypes. We present Cohort Analyzer, a tool that measures the phenotyping quality of patient cohorts. It calculates multiple statistics to give a general overview of the cohort status in terms of the depth and breadth of phenotyping, allowing us to detect less well-phenotyped patients for re-examining or excluding from further analyses. In addition, it performs clustering analysis to find subgroups of patients that share similar phenotypic profiles. We used it to analyse three cohorts of genetic diseases patients with very different properties. We found that cohorts with the most specific and complete phenotypic characterization give more potential insights into the disease than those that were less deeply characterised by forming more informative clusters. For two of the cohorts, we also analysed genomic data related to the patients, and linked the genomic data to the patient-subgroups by mapping shared variants to genes and functions. The work highlights the need for improved phenotyping in this era of personalized medicine. The tool itself is freely available alongside a workflow to allow the analyses shown in this work to be applied to other datasets.

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.

High-throughput gene expression analysis is widely used. However, analysis is not straightforward. Multiple approaches should be applied and methods to combine their results implemented and investigated. We present methodology for the comprehensive analysis of expression data, including co-expression module detection and result integration via data-fusion, threshold based methods, and a Naïve Bayes classifier trained on simulated data. Application to rare-disease model datasets confirms existing knowledge related to immune cell infiltration and suggest novel hypotheses including the role of calcium channels. Application to simulated and spike-in experiments shows that combining multiple methods using consensus and classifiers leads to optimal results. ExpHunter Suite is implemented as an R/Bioconductor package available from https://bioconductor.org/packages/ExpHunterSuite . It can be applied to model and non-model organisms and can be run modularly in R; it can also be run from the command line, allowing scalability with large datasets. Code and reports for the studies are available from https://github.com/fmjabato/ExpHunterSuiteExamples .

Metagenomics of mine tailing rhizospheric communities and its selection for plant establishment towards bioremediation.

Mining operations often generate tailing dams that contain toxic residues and are a source of contamination when left unconfined. The establishment of a plant community over the tailings has been proposed as a containment strategy known as phytostabilization. Previously, we described naturally occurring mine tailing colonizing plants such as Acacia farnesiana, Brickellia coulteri, Baccharis sarothroides, and Gnaphalium leucocephalum without finding local adaptation. We explored the rhizosphere microbes as contributors in plant establishment and described both the culturable and in situ diversity of rhizospheric bacteria using the 16S rRNA gene and metagenomic shotgun sequencing. We built a synthetic community (SC) of culturable rhizosphere bacteria from the mine tailings. The SC was then the foundation for a serial passes experiment grown in plant-derived nutrient sources, selecting for heavy metals tolerance, community cooperation, and competition. The outcome of the serial passes was named the 'final synthetic community' (FSC). Overall, diversity decreased from in situ uncultivable microbes from roots (399 bacteria genera) to the cultivated communities (291 genera), the SC (94 genera), and the lowest diversity was in the FSC (43 genera). Metagenomic diversity clustered into 94,245 protein families, where we found plant growth promotion-related genes such as the csgBAC and entCEBAH, coded in a metagenome-assembled genome named Kosakonia sp. Nacozari. Finally, we used the FSC to inoculate mine tailing colonizing plants in a greenhouse experiment. The plants with the FSC inocula observed higher relative plant growth rates in sterile substrates. The FSC presents promising features that might make it useful for phytostabilization tailored strategies.

Evaluación de un sistema experto en médicos residentes para el manejo nutricional de pacientes críticos con insuficiencia y falla intestinal / Evaluation of an expert system in resident physicians for the nutritional management of critically ill patients with intestinal insufficiency and failure

La informática ha aportado a la medicina y a la nutrición herramientas de apoyo en la toma de decisiones, que han permitido una atención más objetiva y oportuna a los pacientes. Un sistema experto es una de estas herramientas con el potencial de guiar a los usuarios en el manejo de una problemática específica. La adhesión a las guías de práctica clínica para el manejo nutricional en pacientes con insuficiencia y falla intestinal, por medio de un Sistema experto optimiza el tratamiento de pacientes críticos y aumenta sus posibilidades de supervivencia. Objetivo: Establecer sí un Sistema experto desarrollado como una herramienta para mejorar la adhesión de los médicos a las guías internacionales y como apoyo en la toma de decisiones, mejora el manejo del soporte nutricional en pacientes con insuficiencia y falla intestinal. Métodos: Se empleó un cuestionario elaborado por cinco expertos mediante un proceso Delphi modificado de tres ron-das, para generar consenso sobre las preguntas que debían responder los médicos residentes al evaluar el conocimiento de las guías internacionales de manejo nutricional en estos pacientes. el consenso se estableció mediante estadísticas descriptivas, cuando la concordancia alcanzó el 80% o más en cada una de las preguntas. El cuestionario se aplicó a 26 médicos residentes que rotaban por la unidad de cuidado intensivo en un hospital local, la mitad con apoyo del Sistema y la otra mitad sin este. Resultados: El empleo del Sistema mostró ser un apoyo para los médicos residentes que lo emplearon (P valor =0,044). Proporcionándoles asistencia para mejores resultados, y menos errores en la prueba escrita y mejor adherencia a las recomendaciones de guías internacionales. Conclusiones: los resultados encontrados sugieren que el uso del Sistema, puede mejorar la toma de decisiones frente al abordaje médico y nutricional en pacientes con insuficiencia y falla intestinal. (AU)

Information technology has provided medicine and nutrition with decision support tools, which have allowed a more objective and timely care to patients. An expert system is one of these tools with the potential to guide users in handling a specific problem. Adherence to clinical practice guidelines for nutritional management in patients with intestinal insufficiency and failure, through an expert system, optimizes the treatment of critically ill patients and increases their chances of survival. Objective: To establish an expert system developed as a tool to improve the adherence of physicians to international guidelines and as support in decision-making, improves the management of nutritional support in patients with intestinal insufficiency and failure. Methods: A questionnaire prepared by five experts through a modified three-round Delphi process was used to generate consensus on the questions that resident physicians had to answer when evaluating knowledge of international guidelines for nutritional management in these patients. Consensus was established through descriptive statistics, when agreement reached 80% or more in each of the questions. The questionnaire was applied to 26 resident physicians who rotated through the intensive care unit at a local hospital, half with support from the System and the other half without it. Results: The use of the System was shown to be a support for the resident physicians who used it (P value = 0.044). Providing assistance for better results, fewer errors in the written test and better adherence to the recommendations of international guidelines. Conclusions: the results found suggest that the use of the System can improve decision-making regarding the medical and nutritional approach in patients with intestinal insufficiency and failure. (AU)

New and potential strategies for the treatment of PMM2-CDG.

BACKGROUND: Mutations in the PMM2 gene cause phosphomannomutase 2 deficiency (PMM2; MIM# 212065), which manifests as a congenital disorder of glycosylation (PMM2-CDG). Mutant PMM2 leads to the reduced conversion of Man-6-P to Man-1-P, which results in low concentrations of guanosine 5'-diphospho-D-mannose, a nucleotide-activated sugar essential for the construction of protein oligosaccharide chains. To date the only therapeutic options are preventive and symptomatic. SCOPE OF REVIEW: This review covers the latest advances in the search for a treatment for PMM2-CDG. MAJOR CONCLUSIONS: Treatments based on increasing Man-1-P levels have been proposed, along with the administration of different mannose derivates, employing enzyme inhibitors or repurposed drugs to increase the synthesis of GDP-Man. A single repurposed drug that might alleviate a severe neurological symptom associated with the disorder is now in clinical use. Proof of concept also exists regarding the use of pharmacological chaperones and/or proteostatic regulators to increase the concentration of hypomorphic PMM2 mutant proteins. GENERAL SIGNIFICANCE: The ongoing challenges facing the discovery of drugs to treat this orphan disease are discussed.

Formación en salud mental en psicología, trabajo social, medicina, enfermería y terapia ocupacional en Colombia / Training in mental health in psychology, social work, medicine, nursing and occupational therapy in colombia / Formação em saúde mental em psicología, trabalho social, medicina, enfermagem e terapia ocupacional na Colômbia

Este artículo presenta los resultados de una investigación que tuvo como objetivo analizar el componente de salud mental presente en las mallas curriculares de los programas universitarios de psicología, trabajo social, medicina, enfermería y terapia ocupacional en Colombia, 2015. Se trata de un estudio cualitativo descriptivo, para el cual se hizo uso de fuentes documentales, como las mallas curriculares de los programas y la información descriptiva de los mismos ofrecidas en sus páginas web, y de un grupo de discusión con representantes de las disciplinas en cuestión; participaron 321 programas universitarios que para 2015 se encontraban activos en el Sistema Nacional de Información de la Educación Superior. Se encuentra que la formación en salud mental no es tema de interés explícito en los planes de formación curricular, constituyéndose por lo tanto en un contenido abordado dentro de otros temas más generales, lo que permite concluir que los retos para la formación en salud mental que se infieren de la ley colombiana de salud mental, no son acogidos suficientemente.

This article presents the results of a research that aimed at analyzing the mental health component present in the curriculum of the Psychology, Social Work, Medicine, Nursing and Occupational Therapy university programs in Colombia, in 2015. It is a descriptive qualitative study, for which documentary sources were used such as the curriculum of the programs and the descriptive information offered on their web pages, and a discussion group with representatives of the disciplines in question. A total of 321 university programs that by 2015 were active in the National Information System of Higher Education participated in the study. It was found that training in mental health is not a topic of explicit interest in curricular training plans, thus constituting a content addressed within other more general topics, which allows concluding that the challenges for training in mental health inferred from the Colombian Mental Health Law, are not sufficiently spread.

Este artigo apresenta os resultados duma pesquisa que teve como objetivo analisar o componente de saúde mental presente nas matrizes curriculares dos programas universitários de psicologia, trabalho social, medicina, enfermagem e terapia ocupacional na Colômbia, 2015. Trata-se dum estudo qualitativo descritivo, para o qual se fez uso de fontes documentais, como as matrizes curriculares dos programas e a informação descritiva das mesmas oferecidas em suas páginas web, e dum grupo de discussão com representantes das disciplinas em questão; participaram 321 programas universitários que para 2015 se encontravam ativos no Sistema Nacional de Informação da Educação Superior. Encontra-se que a formação em saúde mental não é tema de interesse explícito nos planos de formação curricular, constituindo-se portanto em um conteúdo abordado dentro de outros temas mais gerais, o que permite concluir que os retos para a formação em saúde mental que se inferem da lei colombiana de saúde mental, não são aceitados suficientemente.

Formación en salud mental en psicología, trabajo social, medicina, enfermería y terapia ocupacional en Colombia / Training in mental health in psychology, social work, medicine, nursing and occupational therapy in Colombia / Formação em saúde mental em psicología, trabalho social, medicina, enfermagem e terapia ocupacional na Colômbia

Resumen Este artículo presenta los resultados de una investigación que tuvo como objetivo analizar el componente de salud mental presente en las mallas curriculares de los programas universitarios de psicología, trabajo social, medicina, enfermería y terapia ocupacional en Colombia, 2015. Se trata de un estudio cualitativo descriptivo, para el cual se hizo uso de fuentes documentales, como las mallas curriculares de los programas y la información descriptiva de los mismos ofrecidas en sus páginas web, y de un grupo de discusión con representantes de las disciplinas en cuestión; participaron 321 programas universitarios que para 2015 se encontraban activos en el Sistema Nacional de Información de la Educación Superior. Se encuentra que la formación en salud mental no es tema de interés explícito en los planes de formación curricular, constituyéndose por lo tanto en un contenido abordado dentro de otros temas más generales, lo que permite concluir que los retos para la formación en salud mental que se infieren de la ley colombiana de salud mental, no son acogidos suficientemente.

Abstract This article presents the results of a research that aimed at analyzing the mental health component present in the curriculum of the Psychology, Social Work, Medicine, Nursing and Occupational Therapy university programs in Colombia, in 2015. It is a descriptive qualitative study, for which documentary sources were used such as the curriculum of the programs and the descriptive information offered on their web pages, and a discussion group with representatives of the disciplines in question. A total of 321 university programs that by 2015 were active in the National Information System of Higher Education participated in the study. It was found that training in mental health is not a topic of explicit interest in curricular training plans, thus constituting a content addressed within other more general topics, which allows concluding that the challenges for training in mental health inferred from the Colombian Mental Health Law, are not sufficiently spread.

Resumo Este artigo apresenta os resultados duma pesquisa que teve como objetivo analisar o componente de saúde mental presente nas matrizes curriculares dos programas universitários de psicologia, trabalho social, medicina, enfermagem e terapia ocupacional na Colômbia, 2015. Trata-se dum estudo qualitativo descritivo, para o qual se fez uso de fontes documentais, como as matrizes curriculares dos programas e a informação descritiva das mesmas oferecidas em suas páginas web, e dum grupo de discussão com representantes das disciplinas em questão; participaram 321 programas universitários que para 2015 se encontravam ativos no Sistema Nacional de Informação da Educação Superior. Encontra-se que a formação em saúde mental não é tema de interesse explícito nos planos de formação curricular, constituindo-se portanto em um conteúdo abordado dentro de outros temas mais gerais, o que permite concluir que os retos para a formação em saúde mental que se inferem da lei colombiana de saúde mental, não são aceitados suficientemente.