Cirugía preservadora de órgano tras traumatismo esplénico cerrado con implicación hiliar

ResumenAntecedentesLa afectación esplénica secundaria a un traumatismo abdominal cerrado es frecuentemente tratada mediante esplenectomía. Ante la gravedad de las consecuencias del síndrome postesplenectomía (pérdidas hemáticas, sepsis, etc.) cada vez se tiende más a la preservación del órgano afectado. Presentamos un caso clínico de preservación de bazo tras traumatismo abdominal cerrado con implicación hiliar de dicho órgano, en el que se recurre al papel esencial del Floseal® como agente hemostático.Caso clínicoMujer de 22 años que presenta traumatismo abdominal cerrado tras accidente de tráfico, con diagnóstico de lesión esplénica del polo inferior con compromiso hiliar que implica la vascularización de dicha región. Se procede a la intervención quirúrgica urgente con preservación esplénica mediante esplenectomía parcial y control del sangrado con Floseal® y con el empleo de una malla de refuerzo de ácido poliglicólico. La evolución postoperatoria es satisfactoria y sale del hospital al 5.o día sin incidencias.ConclusiónEl empleo de agentes hemostáticos como el gel de gelatina y trombina (Floseal®) y el uso de mallas envolventes de ácido poliglicólico posibilitan la cirugía de preservación esplénica tras un traumatismo abdominal, representando una alternativa segura y factible a la esplenectomía completa clásica, con el beneficio de la conservación del órgano y de sus funciones.AbstractBackgroundSplenic involvement secondary to blunt abdominal trauma is often treated by performing a splenectomy. The severity of the post-splenectomy syndrome is currently well known (blood loss, sepsis), so there is an increasing tendency to preserve the spleen. The case is presented of splenic preservation after blunt abdominal trauma with hilum involvement, emphasising the role of Floseal® as a haemostatic agent, as well as the use of resorbable meshes to preserve the spleen.Clinical caseA 22-year-old woman presenting with a grade IV splenic lesion secondary to a blunt abdominal trauma after a traffic accident. Partial splenic resection was performed and bleeding was controlled with Floseal® and use of a reinforcing polyglycolic acid mesh. No postoperative complications occurred, being discharged on day 5. The long-term follow-up has been uneventful.ConclusionThe use of haemostatic agents such as thrombin and the gelatine gel (FloSeal®) and the use of polyglycolic acid meshes enable spleen-preserving surgery, making it a feasible and reproducible procedure and an alternative to classical splenectomy

Neuroeducational findings from neuromotor stimulation at kinder garden

This article addresses the contributions of neuroeducation to the teaching-learning process of preschoolers from neuromotor stimulation. The general objective of this study is to explain the main relationships involved in the educational process from the point of view of neuroeducation (neuromotor stimulation) with respect to cognitive development (cognitive level) among third grade preschool boys and girls. A study with a quantitative approach is proposed based on an instrument that allows to account for the aspects of neuromotor development. Among the most significant results it is found that it is possible to contribute to the achievement of cognitive skills such as attention, memory and language, favoring the development of skills such as self-direction, decision-making, adaptation, cognitive flexibility and working memory from the preschool level.En este artículo se abordan las aportaciones de la neuroeducación al proceso de enseñanza-aprendizaje de las y los preescolares a partir de la estimulación neuromotriz. El objetivo general de este estudio es explicar las principales relaciones que intervienen en el proceso educativo desde la visión de la neuroeducación (a partir de la estimulación neuromotriz) con respecto al desarrollo cognitivo (nivel cognitivo) entre niños y niñas de preescolar de tercer grado. Se plantea un estudio con enfoque cuantitativo a partir de un instrumento que permite dar cuenta de los aspectos del desarrollo neuromotriz. Dentro de los resultados más significativos se encuentra que es posible contribuir al logro de habilidades cognitivas tales como la atención, la memoria y lenguaje favoreciendo el desarrollo de habilidades como la autodirección, toma de decisiones, adaptación, la flexibilidad cognitiva y la memoria de trabajo desde el nivel de preescolar

Ducha modular portátil con filtrado de aguas grises

Ducha modular portátil con filtrado de aguas grises que cuenta con un sistema modular de recolección y filtrado que permite separar las suspensiones coloidales del agua en su base y que incluye por lo menos cuatro módulos. Primer módulo que se encarga de la recolección de aguas grises producto del aseo, la cual es tratada con agentes floculantes para lograr una coagulación y obtener su sedimentación, el agua tratada pasa a un módulo de filtrado primario donde un sistema de compartimientos de filtrado horizontal que contiene grava, arena y carbón activado filtra el agua la cual se es recolectada en un compartimiento inferior de almacenamiento. El agua filtrada almacenada en el módulo de filtrado primario es trasladada a un módulo de filtrado secundario, módulo que contiene filtros cerámicos, los cuales, tienen la capacidad de tratar aguas residuales y transformarlas en agua potable ya que estos filtros tienen la capacidad de atrapar partículas y microorganismos tóxicos mediante la filtración tortuosa, inhibiendo su reproducción con la aplicación de una capa de plata coloidal en su superficie. El agua tratada por los filtros cerámicos es conducida a un grifo de extracción de agua potable. El cuarto módulo es de almacenamiento de agua del filtrado primario, este módulo recoge el agua que rebalsa del filtro cerámico del módulo de filtrado secundario, esto es debido al tiempo que necesita el agua para atravesar el filtro secundario. El agua obtenida por el filtrado primario es utilizada para el aseo y es elevada a la ducha mediante un sistema de presurización para así volver al inicio del proces

Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population

Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included. On average, NMO patients had a higher proportion of Native American ancestry than controls (68.1% vs 58.6%; p = 5 × 10–6). GWAS identified a HLA region associated with NMO, led by rs9272219 (OR = 2.48, P = 8 × 10–10). Class II HLA alleles HLA-DQB1*03:01, -DRB1*08:02, -DRB1*16:02, -DRB1*14:06 and -DQB1*04:02 showed the most significant associations with NMO risk. Local ancestry estimates suggest that all the NMO-associated alleles within the HLA region are of Native American origin. No novel or missense variants in the AQP4 gene were found in Mexican patients with NMO or multiple sclerosis. To our knowledge, this is the first study supporting the notion that Native American ancestry significantly contributes to NMO susceptibility in an admixed population, and is consistent with differences in NMO epidemiology in Mexico and Latin America.Fil: Romero Hidalgo, Sandra. Instituto Nacional de Medicina Genómica; MéxicoFil: Flores Rivera, José. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Rivas Alonso, Verónica. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Barquera, Rodrigo. Max Planck Institute For The Science Of Human History; Alemania. Instituto Nacional de Antropología e Historia; MéxicoFil: Villarreal Molina, María Teresa. Instituto Nacional de Medicina Genómica; MéxicoFil: Antuna Puente, Bárbara. Instituto Nacional de Medicina Genómica; MéxicoFil: Macias Kauffer, Luis Rodrigo. Universidad Nacional Autónoma de México; MéxicoFil: Villalobos Comparán, Marisela. Instituto Nacional de Medicina Genómica; MéxicoFil: Ortiz Maldonado, Jair. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Yu, Neng. American Red Cross; Estados UnidosFil: Lebedeva, Tatiana V.. American Red Cross; Estados UnidosFil: Alosco, Sharon M.. American Red Cross; Estados UnidosFil: García Rodríguez, Juan Daniel. Instituto Nacional de Medicina Genómica; MéxicoFil: González Torres, Carolina. Instituto Nacional de Medicina Genómica; MéxicoFil: Rosas Madrigal, Sandra. Instituto Nacional de Medicina Genómica; MéxicoFil: Ordoñez, Graciela. Neuroimmunología, Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Guerrero Camacho, Jorge Luis. Instituto Nacional de Neurología y Neurocirugía; MéxicoFil: Treviño Frenk, Irene. American British Cowdray Medical Center; México. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Escamilla Tilch, Monica. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: García Lechuga, Maricela. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Tovar Méndez, Víctor Hugo. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Pacheco Ubaldo, Hanna. Instituto Nacional de Antropología E Historia. Escuela Nacional de Antropología E Historia; MéxicoFil: Acuña Alonzo, Victor. Instituto Nacional de Antropología E Historia. Escuela Nacional de Antropología E Historia; MéxicoFil: Bortolini, María Cátira. Universidade Federal do Rio Grande do Sul; BrasilFil: Gallo, Carla. Universidad Peruana Cayetano Heredia; PerúFil: Bedoya Berrío, Gabriel. Universidad de Antioquia; ColombiaFil: Rothhammer, Francisco. Universidad de Tarapacá; ChileFil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; ArgentinaFil: Ruiz Linares, Andrés. Colegio Universitario de Londres; Reino UnidoFil: Canizales Quinteros, Samuel. Universidad Nacional Autónoma de México; MéxicoFil: Yunis, Edmond. Dana Farber Cancer Institute; Estados UnidosFil: Granados, Julio. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Corona, Teresa. Instituto Nacional de Neurología y Neurocirugía; Méxic

Results of the COVID-19 mental health international for the general population (COMET-G) study.

INTRODUCTION: There are few published empirical data on the effects of COVID-19 on mental health, and until now, there is no large international study. MATERIAL AND METHODS: During the COVID-19 pandemic, an online questionnaire gathered data from 55,589 participants from 40 countries (64.85% females aged 35.80 ± 13.61; 34.05% males aged 34.90±13.29 and 1.10% other aged 31.64±13.15). Distress and probable depression were identified with the use of a previously developed cut-off and algorithm respectively. STATISTICAL ANALYSIS: Descriptive statistics were calculated. Chi-square tests, multiple forward stepwise linear regression analyses and Factorial Analysis of Variance (ANOVA) tested relations among variables. RESULTS: Probable depression was detected in 17.80% and distress in 16.71%. A significant percentage reported a deterioration in mental state, family dynamics and everyday lifestyle. Persons with a history of mental disorders had higher rates of current depression (31.82% vs. 13.07%). At least half of participants were accepting (at least to a moderate degree) a non-bizarre conspiracy. The highest Relative Risk (RR) to develop depression was associated with history of Bipolar disorder and self-harm/attempts (RR = 5.88). Suicidality was not increased in persons without a history of any mental disorder. Based on these results a model was developed. CONCLUSIONS: The final model revealed multiple vulnerabilities and an interplay leading from simple anxiety to probable depression and suicidality through distress. This could be of practical utility since many of these factors are modifiable. Future research and interventions should specifically focus on them

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe