Dependencia emocional y violencia de pareja en usuarias del Centro de Salud Mental Comunitario Villa El Salvador, Lima - 2023

La presente investigación tuvo como finalidad determinar la relación entre la dependencia emocional y la violencia de pareja en las usuarias del Centro de Salud Mental Comunitario Villa el Salvador, Lima - 2023. La metodología empleada fue de diseño no experimental, descriptivo correlacional de corte transversal de enfoque cuantitativo. Con una muestra de 52 usuarias que asisten al Centro de Salud Mental Comunitario durante enero a marzo del presente año, a quienes se les aplicó el Cuestionario de dependencia emocional CDE (Lemos y Londoño) y el cuestionario de escala de Violencia Familiar (Julio Jaramillo). Los resultados demostraron un nivel de significancia de 0.000 menor al valor de contraste 0.05, con lo cual se puede determinar que existe relación significativa entre la dependencia emocional y la violencia de pareja. La principal conclusión es que cuando existe un mayor nivel de dependencia emocional mayor será el nivel de violencia de pareja. Por lo que se recomienda fomentar estrategias de intervención, para identificar la dependencia emocional en las víctimas de violencia de pareja

Neuroprotection, Photoperiod, and Sleep

After an acquired brain injury, responses that induce cell death are activated; however, neuroprotective mechanisms are also activated. The relation between these responses determines the destination of the damaged tissue. This relation presents variations throughout the day; numerous studies have shown that the onset of a stroke occurs preferably in the morning. In the rat, ischemia causes more damage when it is induced during the night. The damage caused by a traumatic brain injury (TBI), in the rat, varies depending on the time of day it is induced. Minor behavioral damage has been reported when the TBI occurs during the night, a period that coincides with the wakefulness of the rat. It also has been observed that sleep deprivation accelerates the recovery. Our group has documented that this is due, in part, to a difference in the degree of activation of cannabinergic, GABAergyc, and glutamatergic systems

A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classification is still difficult. To address this challenge, we extended the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by health care professionals. We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. To illustrate their value, the representations are applied to three problems in variant interpretation. The assessment of computational pathogenicity predictions showed that the graphics provide an intuitive view of pre-diction reliability, complementing and extending conventional numerical reliability indexes. When applied to variant of unknown significance populations, the representations shed light on the nature of these variants and can be used to prioritize variants of unknown significance for further studies. In a third application, the graphics were used to compare the two versions of the ATM-adapted American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, obtaining valuable information on their relative virtues and weaknesses. Finally, a server [ATMision (ATM missense in silico interpretation online)] was generated for users to apply these representations in their variant interpretation problems, to check the ATM-adapted guidelines' criteria for computational evidence on their variant(s) and access different sources of information. (J Mol Diagn 2024, 26: 17-28; https://doi.org/10.1016/j.jmoldx.2023.09.009

Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression

[EN] Background and Aims: Recent studies suggest that mitochondrial dysfunction promotes progression to NASH by aggravating the gut-liver status. However, the underlying mechanism remains unclear. Herein, we hypothesized that enhanced mitochondrial activity might reshape a specific microbiota signature that, when transferred to germ-free (GF) mice, could delay NASH progression. Approach and Results: Wild-type and methylation-controlled J protein knockout (MCJ-KO) mice were fed for 6 weeks with either control or a choline-deficient, L-amino acid–defined, high-fat diet (CDA-HFD). One mouse of each group acted as a donor of cecal microbiota to GF mice, who also underwent the CDA-HFD model for 3 weeks. Hepatic injury, intestinal barrier, gut microbiome, and the associated fecal metabolome were then studied. Following 6 weeks of CDA-HFD, the absence of methylation-controlled J protein, an inhibitor of mitochondrial complex I activity, reduced hepatic injury and improved gut-liver axis in an aggressive NASH dietary model. This effect was transferred to GF mice through cecal microbiota transplantation. We suggest that the specific microbiota profile of MCJ-KO, characterized by an increase in the fecal relative abundance of Dorea and Oscillospira genera and a reduction in AF12, Allboaculum, and [Ruminococcus], exerted protective actions through enhancing short-chain fatty acids, nicotinamide adenine dinucleotide (NAD+) metabolism, and sirtuin activity, subsequently increasing fatty acid oxidation in GF mice. Importantly, we identified Dorea genus as one of the main modulators of this microbiota-dependent protective phenotype. Conclusions: Overall, we provide evidence for the relevance of mitochondria–microbiota interplay during NASH and that targeting it could be a valuable therapeutic approach.S

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

Background Gene panel testing by massive parallel sequencing has increased the diagnostic yield but also the number of variants of uncertain significance. Clinical interpretation of genomic data requires expertise for each gene and disease. Heterozygous ATM pathogenic variants increase the risk of cancer, particularly breast cancer. For this reason, ATM is included in most hereditary cancer panels. It is a large gene, showing a high number of variants, most of them of uncertain significance. Hence, we initiated a collaborative effort to improve and standardize variant classification for the ATM gene. Methods Six independent laboratories collected information from 766 ATM variant carriers harboring 283 different variants. Data were submitted in a consensus template form, variant nomenclature and clinical information were curated, and monthly team conferences were established to review and adapt American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) criteria to ATM, which were used to classify 50 representative variants. Results Amid 283 different variants, 99 appeared more than once, 35 had differences in classification among laboratories. Refinement of ACMG/AMP criteria to ATM involved specification for twenty-one criteria and adjustment of strength for fourteen others. Afterwards, 50 variants carried by 254 index cases were classified with the established framework resulting in a consensus classification for all of them and a reduction in the number of variants of uncertain significance from 58% to 42%. Conclusions Our results highlight the relevance of data sharing and data curation by multidisciplinary experts to achieve improved variant classification that will eventually improve clinical management.FEDER funds-a way to build Europe PI19/00553 PI16/00563 PI16/01898 SAF2015-68016-RGeneralitat de Catalunya 2017SGR1282 2017SGR496CERCA Program: Government of CataloniaXunta de GaliciaInstituto de Salud Carlos III. AES PI19/00340Spanish Government SAF2016-80255-REuropean Commission EFA086/15Instituto de Salud Carlos III European Commissio

Caminando en la ruta sentipensante: configuración de experiencias pedagógicas nivel inicial

494 páginasEste texto es realizado en el contexto del Plan de Desarrollo 2016 – 2020, “Bogotá mejor para todos”, en el que se señala: Bogotá es entendida como una ciudad educadora, en la que todos los ciudadanos son agentes educadores y todos los espacios pueden ser escenarios pedagógicos para el aprendizaje. Una ciudad educadora tiene como centro el conocimiento e inspira aprendizaje, formas y lenguajes para reconocernos, para reencontrarnos; los espacios para el aprendizaje son entendidos como espacios para la vida, en los que se posibilita la investigación y la innovación para vivir mejor, para reinventarnos como ciudad, una ciudad mejor para todos. Los dieciocho textos aquí presentados, fruto del acompañamiento pedagógico realizado por el IDEP en 2019, son base y referente para seguir aportando en la configuración y consolidación de comunidades de saber y práctica pedagógica de la ciudad, así como en la conformación de colectivos y redes de maestros. Son la evidencia de un potente trabajo de acompañamiento a experiencias de nivel inicial, caracterizadas por contar con ideas o avances para problematizar, estructurar, fundamentar, elaborar estrategias y un plan de acción

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Desarrollo de herramientas para el análisis y predicción patogénica de las variantes missense de ATM en el entorno clínico

[spa] Establecer la naturaleza patogénica de las variantes de secuencia en ATM, un gen asociado con el cáncer de mama y otros cánceres hereditarios, es crucial para brindar una atención adecuada a los pacientes. Sin embargo, lograr buenas clasificaciones de estas variantes sigue siendo un problema sin resolver. Aquí, abordamos este problema mejorando la contribución de las herramientas in silico a la clasificación de variantes missense. Un problema importante en el uso de herramientas in silico es su baja interpretabilidad. Nos acercamos a esta limitación explorando primero el desarrollo de predictores de patogenicidad específicos de proteínas que incorporan medidas interpretables del impacto de una variante. Paralelamente, desarrollamos una familia de representaciones gráficas rápidas e intuitivas en las que se considera el impacto de una variante en relación al de variantes patogénicas y benignas ya conocidas. Entre los resultados obtenidos destaca un sistema de clasificación para el criterio de predicción in silico de la adaptación de las guías ACMG/AMP a ATM y tres predictores específicos de proteína con diferentes grados de interpretabilidad. Dos tienen capacidades predictivas similares a las de los predictores de patogenicidad de alto rango. Curiosamente, aunque menos preciso, nuestro predictor biofísico alcanza un rendimiento que abre el camino para usar evidencia biofísica para completar la anotación de variantes de ATM. En lo que respecta a las representaciones gráficas, las hemos aplicado a tres problemas de clasificación de variantes: evaluación de predicciones, caracterización de VUS y comparación de las dos versiones de las guías ACMG/AMP adaptadas a ATM. En estas aplicaciones, nuestros gráficos muestran sus virtudes como herramientas complementarias para los procesos de clasificación in silico: son rápidos, fáciles de usar y casi no requieren capacitación. En resumen, en esta tesis presentamos una familia de herramientas in silico para mejorar la anotación de variantes missense en ATM y facilitar el papel de los profesionales en este proceso.[eng] Establishing the pathogenic nature of sequence variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial to providing adequate patient care. However, achieving good rankings for these variants remains an unresolved issue. Here, we address this problem by improving the contribution of in silico tools to missense variant classification. A major problem in the use of in silico tools is their low interpretability. We approach this limitation by first exploring the development of protein-specific pathogenicity predictors that incorporate interpretable measures of the impact of a variant. In parallel, we developed a family of fast and intuitive graphical representations in which the impact of a variant is considered in relation to that of known pathogenic and benign variants. Among the results obtained, a classification system stands out for the in silico prediction criterion of the adaptation of the ACMG/AMP guides to ATM and three protein-specific predictors with different degrees of interpretability. Two have predictive abilities similar to those of high-rank pathogenicity predictors. Interestingly, although less accurate, our biophysical predictor achieves a performance that paves the way for using biophysical evidence to complete ATM variant annotation. Regarding the graphical representations, we have applied them to three variant classification problems: prediction evaluation, VUS characterization and comparison of the two versions of the ATM-adapted ACMG/AMP guides. In these applications, our graphs show their virtues as complementary tools for in silico classification processes: they are fast, easy to use and require almost no training. In summary, in this thesis we present a family of in silico tools to improve the annotation of missense variants in ATM and facilitate the role of professionals in this process

Rastreo de cocaína en orina de recién nacidos hijos de madres consumidoras

Se realizó un estudio de prevalencia con el fin de rastrear cocaína en orina y caracterizar a las madres consumidoras de pasta básica de cocaína (bazuco) durante el embarazo y sus recién nacidos, donde se incluyeron dos grupos de madres, unas que aceptaron su consumo y otras madres que aceptaron consumo de otras sustancias y tenían complicaciones del embarazo. Se captaron 117 binomios madre-recién nacidos, 25 (21%) aceptaron consumo y 92 (79%) tenían complicaciones. Las primeras tuvieron menor escolaridad y control prenatal, más enfermedades de transmisión sexual y de consumo de cigarrillo y marihuana; 72% resultaron positivas en orina para cocaína contra 15% de las madres con complicaciones. La mitad de sus recién nacidos fueron prematuros y de bajo peso al nacer, 20% con desnutrición intrauterina y 12% con muy bajo peso al nacer. Además 60% resultaron positivos en orina para cocaína contra 16% de los recién nacidos hijos de madres con complicaciones. A menor nivel educativo y control prenatal, a mayor gravidez y paridad fue mayor significativamente el riesgo de tener en orina un resultado positivo para cocaína. Es urgente la implementación de políticas educativas y de salud pública que eleven el nivel de escolaridad de la mujer, aumenten la cobertura del programa de control prenatal a todas las mujeres embarazadas y prevengan el consumo de sustancias deletéreas durante el embarazo. A prevalence study was carried out to track cocaine in urine and characterize the cocaine (bazuco) consumer mother during their pregnancy and their newborn, in the Hospital Universitary in Cali, Colombia, where two groups of mothers were included, ones that accepted its consumption, and other ones who accepted using other substances and had complications of their pregnancy; 117 mother-newborn binomials were included, 25 (21%) accepted consumption and 92 (79%) had complications. The first one had a lower scholarship and prenatal control more sexual transmission diseases and higher cigarette and marihuana smoking rates; 72% resulted positive during a urine test for cocaine, against 15% of mothers having complications. Half of their babies were premature and low birth weight, 20% with intrauterine malnutrition and 12% had a very low birth weight. In addition 60% resulted positive on urine test for cocaine, against 16% of the babies from mothers that had complications. Low scholarship, absence of prenatal control, a higher gravidity and parity were associated with a major risk of having a positive result on urine test for cocaine. It is very urgent to apply educative and public health politics that rise scholarship on women, and make higher coverage on prenatal control over every woman who is pregnant, also preventing consumption of deleterious substances during pregnancy period

Rastreo de cocaína en orina de recién nacidos hijos de madres consumidoras

A prevalence study was carried out to track cocaine in urine and characterize the cocaine (bazuco) consumer mother during their pregnancy and their newborn, in the Hospital Universitary in Cali, Colombia, where two groups of mothers were included, ones that accepted its consumption, and other ones who accepted using other substances and had complications of their pregnancy; 117 mother-newborn binomials were included, 25 (21%) accepted consumption and 92 (79%) had complications. The first one had a lower scholarship and prenatal control more sexual transmission diseases and higher cigarette and marihuana smoking rates; 72% resulted positive during a urine test for cocaine, against 15% of mothers having complications. Half of their babies were premature and low birth weight, 20% with intrauterine malnutrition and 12% had a very low birth weight. In addition 60% resulted positive on urine test for cocaine, against 16% of the babies from mothers that had complications. Low scholarship, absence of prenatal control, a higher gravidity and parity were associated with a major risk of having a positive result on urine test for cocaine. It is very urgent to apply educative and public health politics that rise scholarship on women, and make higher coverage on prenatal control over every woman who is pregnant, also preventing consumption of deleterious substances during pregnancy period. RESUMEN Se realizó un estudio de prevalencia con el fin de rastrear cocaína en orina y caracterizar a las madres consumidoras de pasta básica de cocaína (bazuco) durante el embarazo y sus recién nacidos, donde se incluyeron dos grupos de madres, unas que aceptaron su consumo y otras madres que aceptaron consumo de otras sustancias y tenían complicaciones del embarazo. Se captaron 117 binomios madre-recién nacidos, 25 (21%) aceptaron consumo y 92 (79%) tenían complicaciones. Las primeras tuvieron menor escolaridad y control prenatal, más enfermedades de transmisión sexual y de consumo de cigarrillo y marihuana; 72% resultaron positivas en orina para cocaína contra 15% de las madres con complicaciones. La mitad de sus recién nacidos fueron prematuros y de bajo peso al nacer, 20% con desnutrición intrauterina y 12% con muy bajo peso al nacer. Además 60% resultaron positivos en orina para cocaína contra 16% de los recién nacidos hijos de madres con complicaciones. A menor nivel educativo y control prenatal, a mayor gravidez y paridad fue mayor significativamente el riesgo de tener en orina un resultado positivo para cocaína. Es urgente la implementación de políticas educativas y de salud pública que eleven el nivel de escolaridad de la mujer, aumenten la cobertura del programa de control prenatal a todas las mujeres embarazadas y prevengan el consumo de sustancias deletéreas durante el embarazo