2,300 research outputs found

    EFECTOS DEL MEDIO Y HERENCIA SOBRE EL PESO AL NACIMIENTO DE TERNEROS DE LA RAZA ROMOSINUANO

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    Se analizaron 1877 datos de pesos de terneros al nacimiento de la raza Romosinuano, desde el año de 1980 hasta el 2001. El peso medio al nacimiento, para ambos sexos, fue de 30,65 Kg. Los machos pesaron en promedio 31,46 Kg., y las hembras 29,8 kg. El año de nacimiento, el número de partos y el sexo, influyeron significativamente sobre el peso al nacimiento de los terneros (P < 0,0001). Las heredabilidades estimadas para el efecto directo y materno fueron: 0,17 ± 0,06 y 0,087 ± 0,03, respectivamente

    Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines

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    INTRODUCTION: Interferon regulatory factor 5 gene (IRF5) polymorphisms are strongly associated with several diseases, including systemic lupus erythematosus (SLE). The association includes risk and protective components. They could be due to combinations of functional polymorphisms and related to cis-regulation of IRF5 expression, but their mechanisms are still uncertain. We hypothesised that thorough testing of the relationships between IRF5 polymorphisms, expression data from multiple experiments and SLE-associated haplotypes might provide useful new information. METHODS: Expression data from four published microarray hybridisation experiments with lymphoblastoid cell lines (57 to 181 cell lines) were retrieved. Genotypes of 109 IRF5 polymorphisms, including four known functional polymorphisms, were considered. The best linear regression models accounting for the IRF5 expression data were selected by using a forward entry procedure. SLE-associated IRF5 haplotypes were correlated with the expression data and with the best cis-regulatory models. RESULTS: A large fraction of variability in IRF5 expression was accounted for by linear regression models with IRF5 polymorphisms, but at a different level in each expression data set. Also, the best models from each expression data set were different, although there was overlap between them. The SNP introducing an early polyadenylation signal, rs10954213, was included in the best models for two of the expression data sets and in good models for the other two data sets. The SLE risk haplotype was associated with high IRF5 expression in the four expression data sets. However, there was also a trend towards high IRF5 expression with some protective and neutral haplotypes, and the protective haplotypes were not associated with IRF5 expression. As a consequence, correlation between the cis-regulatory best models and SLE-associated haplotypes, regarding either the risk or protective component, was poor. CONCLUSIONS: Our analysis indicates that although the SLE risk haplotype of IRF5 is associated with high expression of the gene, cis-regulation of IRF5 expression is not enough to fully account for IRF5 association with SLE susceptibility, which indicates the need to identify additional functional changes in this gene

    Choroid Plexus Papilloma of the Fourth Ventricle: A Pediatric Patient.

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    Choroid plexus papilloma is a low-frequency entity in both the adult and pediatric populations. Its clinical presentation is very variable as it depends on its location and length. We must always do the differential diagnosis between papilloma and other intraventricular pathologies. This article is about a case report of a pediatric patient with a Choroid plexus papilloma located in the fourth ventricle, a location that is atypical for the pediatric population

    Propuesta estratégica de mejora en la implementación de los estándares mínimos del Sistema de Gestión de la Seguridad y Salud en el Trabajo (SG-SST) en la empresa Conarbo S.A.S para el segundo semestre del 2019 y principios del 2020

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    La presente propuesta está desarrollada por medio de la metodología investigativa cualitativa, basada en la observación directa y las entrevistas a colaboradores y empleadores de CONARBO SAS, que permite realizar los análisis para la implementación inicial, la descripción de la transición de las fases, y con los resultados encontrados, se establece el Plan de Mejora para el año 2020, dejando listo y aprobado para la empresa, el Plan Anual del Sistema de Gestión de Seguridad y Salud en el Trabajo, que refleje mejores ambientes de trabajo, bienestar y calidad de vida laboral, e incremente la productividad.This proposal is developed through the qualitative research methodology, based on direct observation and interviews with employees and employers of CONARBO SAS, which allows the analysis for the initial implementation, the description of the phase transition, and with the results found, the Improvement Plan is established for the year 2020, leaving the Annual Plan of the Occupational Health and Safety Management System ready and approved for the company, reflecting better work environments, well-being and quality of life labor, and increase productivity

    Accuracy and Precision of the COSMED K5 Portable Analyser

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    The main aims of this study were to determine the accuracy of the portable metabolic cart K5 by comparison with a stationary metabolic cart (Vyntus CPX), to check on the validity of Vyntus CPX using a butane combustion test, and to assess the reliability of K5 during prolonged walks in the field. For validation, measurements were consecutively performed tests with both devices at rest and during submaximal exercise (bicycling) at low (60 W) and moderate intensities (130–160 W) in 16 volunteers. For the reliability study, 14 subjects were measured two times during prolonged walks (13 km, at 5 km/h), with the K5 set in mixing chamber (Mix) mode. Vyntus measured the stoichiometric RQ of butane combustion with high accuracy (error &lt;1.6%) and precision (CV &lt;0.5%), at VO2 values between 0.788 and 6.395 L/min. At rest and 60 W, there was good agreement between Vyntus and K5 (breath-by-breath, B×B) in VO2, VCO2, RER, and energy expenditure, while in Mix mode the K5 overestimated VO2 by 13.4 and 5.8%, respectively. Compared to Vyntus, at moderate intensity the K5 in B×B mode underestimated VO2, VCO2, and energy expenditure by 6.6, 6.9, and 6.6%, respectively. However, at this intensity there was an excellent agreement between methods in RER and fat oxidation. In Mix mode, K5 overestimated VO2 by 5.8 and 4.8%, at 60 W and the higher intensity, respectively. The K5 had excellent reliability during the field tests. Total energy expenditure per Km was determined with a CV for repeated measurements of 4.5% (CI: 3.2–6.9%) and a concordance correlation coefficient of 0.91, similar to the variability in VO2. This high reproducibility was explained by the low variation of FEO2 measurements, which had a CV of 0.9% (CI: 0.7–1.5%) combined with a slightly greater variability of FECO2, VE, VCO2, and RER. In conclusion, the K5 is an excellent portable metabolic cart which is almost as accurate as a state-of-art stationary metabolic cart, capable of measuring precisely energy expenditure in the field, showing a reliable performance during more than 2 h of continuous work. At high intensities, the mixing-chamber mode is more accurate than the B×B mode

    Dialogicidades y actuaciones multiculturales del buen vivir en la institución etnoeducativa rural bilingue artesal Kamentsa.

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    Maestría en Educación desde la Diversidad, Facultad de Ciencias Sociales y Humanas.El presente documento contempla los principales aspectos en torno a las dialogicidades y actuaciones multiculturales del Buen Vivir, en donde se reconocen los fenómenos sociales, afectaciones y sentires en un mismo territorio. El estudio investigativo devela el reconocimiento de lo Propio, el fortaleciendo de la identidad de la comunidad indígena Kamëntšá y el protagonismo de la Institución Etnoeducativa Rural Bilingüe Artesanal Kamëntšá, con su Proyecto Educativo Institucional Diferencial. La investigación se inscribe en el paradigma cualitativo, que permite reconocer el comportamiento social de los individuos y el estudio sistemático de las realidades colectivas y su diseño se cimentó en la Ruta Propia de la comunidad Indígena, en donde se establecen criterios identitarios de los Kamëntšá, el cual se configuró como una construcción colectiva y se encuentra documentado en su plan de Salvaguarda. La aplicación de las técnicas interactivas de recolección de información y el análisis de los datos en el transcurso investigativo develaron las condiciones que permiten el Buen Vivir tras la lucha de la salvaguarda de los saberes ancestrales y el concepto del Buen Vivir como guía aplicable a la praxis social, para la construcción de conocimiento multicultural

    Plasma Concentrations of Neurofilament Light Chain Protein and Brain-Derived Neurotrophic Factor as Consistent Biomarkers of Cognitive Impairment in Alcohol Use Disorder

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    For a long time, Substance Use Disorders (SUDs) were not considered a component in the etiology of dementia. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders introduced substance-induced neurocognitive disorders, incorporating this notion to clinical practice. However, detection and monitoring of neurodegenerative processes in SUD patients remain a major clinical challenge, especially when early diagnosis is required. In the present study, we aimed to investigate new potential biomarkers of neurodegeneration that could predict cognitive impairment in SUD patients: the circulating concentrations of Neurofilament Light chain protein (NfL) and Brain-Derived Neurotrophic Factor (BDNF). Sixty SUD patients were compared with twenty-seven dementia patients and forty healthy controls. SUD patients were recruited and assessed using the Psychiatric Research Interview for Substance and Mental (PRISM) and a battery of neuropsychological tests, including the Montreal Cognitive Assessment test for evaluation of cognitive impairment. When compared to healthy control subjects, SUD patients showed increases in plasma NfL concentrations and NfL/BDNF ratio, as well as reduced plasma BDNF levels. These changes were remarkable in SUD patients with moderate–severe cognitive impairment, being comparable to those observed in dementia patients. NfL concentrations correlated with executive function and memory cognition in SUD patients. The parameters “age”, “NfL/BDNF ratio”, “first time alcohol use”, “age of onset of alcohol use disorder”, and “length of alcohol use disorder diagnosis” were able to stratify our SUD sample into patients with cognitive impairment from those without cognitive dysfunction with great specificity and sensibility. In conclusion, we propose the combined use of NfL and BDNF (NfL/BDNF ratio) to monitor substance-induced neurocognitive disorder.Instituto de Salud Carlos III (ISCIII], Ministerio de Ciencia e Innovación and European Regional Development Funds-European Union (ERDF-EU] grants “Proyectos de Investigación en Salud” PI19/01577, PI19/00886, PI20/01399 and PI22/00427; Grants Programa RICORS RIAPAD (Red de Investigación en Atención Primaria en Adicciones), Programa RETICS Red de Trastornos Adictivos, (RD16/0017/000); Ministerio de Sanidad, Delegación de Gobierno para el Plan Nacional sobre Drogas (PND 2022I020, PND2020/048, PND 2019/040]; Consejería de Salud y Familia, Junta de Andalucía (Neuro-RECA, RIC-0111-2019]. FJP (CPII19/00022] and AS (CPII19/00031] hold “Miguel Servet II” research contracts from the National System of Health, ISCIII, ERDF-EU. FJP also holds a “Nicolas Monardes” contract from Servicio Andaluz de Salud, Consejería de Salud y Familia, Junta de Andalucía (C1-0049-2019]. PA has a research contract (UMA-FEDERJA-076) funded by the Ministry of Economy and Knowledge—Regional Government of Andalucía and ERDF-EU. The funding sources had no further role in the study design; in the collection, analysis, and interpretation of data; in writing of the report; or in the decision to submit the paper for publication

    SEOM clinical guideline for treatment of kidney cancer (2017)

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    The goal of this article is to provide recommendations about the management of kidney cancer. Based on pathologic and molecular features, several kidney cancer variants were described. Nephron-sparing techniques are the gold standard of localized disease. After a randomized trial, sunitinib could be considered in adjuvant treatment in high-risk patients. Patients with advanced disease constitute a heterogeneous population. Prognostic classification should be considered. Both sunitinib and pazopanib are the standard options for first-line systemic therapy in advanced renal cell carcinoma. Based on the results of two randomized trials, both nivolumab and cabozantinib should be considered the standard for second and further lines of therapy. Response evaluation for present therapies is a challenge

    Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

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    [Background]: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase-associated neurodegeneration (PKAN) is one of the most widespread NBIA subtypes. It is caused by mutations in the gene of pantothenate kinase 2 (PANK2) that result in dysfunction in PANK2 enzyme activity, with consequent deficiency of coenzyme A (CoA) biosynthesis, as well as low levels of essential metabolic intermediates such as 4′-phosphopantetheine, a necessary cofactor for essential cytosolic and mitochondrial proteins. [Methods]: In this manuscript, we examined the therapeutic effectiveness of pantothenate, panthetine, antioxidants (vitamin E and omega 3) and mitochondrial function boosting supplements (L-carnitine and thiamine) in mutant PANK2 cells with residual expression levels. [Results]: Commercial supplements, pantothenate, pantethine, vitamin E, omega 3, carnitine and thiamine were able to eliminate iron accumulation, increase PANK2, mtACP, and NFS1 expression levels and improve pathological alterations in mutant cells with residual PANK2 expression levels. [Conclusion]: Our results suggest that several commercial compounds are indeed able to significantly correct the mutant phenotype in cellular models of PKAN. These compounds alone or in combinations are of common use in clinical practice and may be useful for the treatment of PKAN patients with residual enzyme expression levels.This work was supported by FIS PI16/00786 and PI19/00377 grants, Instituto de Salud Carlos III, Spain and Fondo Europeo de Desarrollo Regional (FEDER-Unión Europea), Proyectos de Investigación de Excelencia de la Junta de Andalucía CTS-5725 and PY18-850
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