31 research outputs found

    La animación infantil como herramienta para la circulación de contenidos interculturales en la televisión Ecuatoriana. Casos de estudio: Atrapasueños

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    Actualmente, la digitalización ha irrumpido en el modo de vida de los seres humanos, su cotidianidad se ha visto afectada por un cambio de paradigma desde donde se produce el conocimiento y la visión del mundo. (Roca, 2014). En ese sentido la imagen ha tomado un rol importante en configurar los saberes y prácticas, transformando a la visión en “el sentido privilegiado del ser humano” (Debord, 1995, p. 13)

    Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

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    BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.Instituto de Salud Carlos III [PI11/0699, PI14/0967, PI14/01477, RD012/0042/0029, RD012/0042/0049, RD012/0042/0066, RD12/0042/0069]; Spanish Ministry of Economy and Competitiveness [SAF2015-71863-REDT]; Plan Nacional de I+D+I; Plan Estatalde I+D+I, European Regional Development Fund; Health in Code SLS

    Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study

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    BACKGROUND: Neonates and infants are susceptible to hypoxaemia in the perioperative period. The aim of this study was to analyse interventions related to anaesthesia tracheal intubations in this European cohort and identify their clinical consequences. METHODS: We performed a secondary analysis of tracheal intubations of the European multicentre observational trial (NEonate and Children audiT of Anaesthesia pRactice IN Europe [NECTARINE]) in neonates and small infants with difficult tracheal intubation. The primary endpoint was the incidence of difficult intubation and the related complications. The secondary endpoints were the risk factors for severe hypoxaemia attributed to difficult airway management, and 30 and 90 day outcomes. RESULTS: Tracheal intubation was planned in 4683 procedures. Difficult tracheal intubation, defined as two failed attempts of direct laryngoscopy, occurred in 266 children (271 procedures) with an incidence (95% confidence interval [CI]) of 5.8% (95% CI, 5.1–6.5). Bradycardia occurred in 8% of the cases with difficult intubation, whereas a significant decrease in oxygen saturation (SpO2<90% for 60 s) was reported in 40%. No associated risk factors could be identified among co-morbidities, surgical, or anaesthesia management. Using propensity scoring to adjust for confounders, difficult anaesthesia tracheal intubation did not lead to an increase in 30 and 90 day morbidity or mortality. CONCLUSIONS: The results of the present study demonstrate a high incidence of difficult tracheal intubation in children less than 60 weeks post-conceptual age commonly resulting in severe hypoxaemia. Reassuringly, the morbidity and mortality at 30 and 90 days was not increased by the occurrence of a difficult intubation event

    Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study

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    BACKGROUND: Little is known about current clinical practice concerning peri-operative red blood cell transfusion in neonates and small infants. Guidelines suggest transfusions based on haemoglobin thresholds ranging from 8.5 to 12 g dl-1, distinguishing between children from birth to day 7 (week 1), from day 8 to day 14 (week 2) or from day 15 (≥week 3) onwards. OBJECTIVE: To observe peri-operative red blood cell transfusion practice according to guidelines in relation to patient outcome. DESIGN: A multicentre observational study. SETTING: The NEonate-Children sTudy of Anaesthesia pRactice IN Europe (NECTARINE) trial recruited patients up to 60 weeks' postmenstrual age undergoing anaesthesia for surgical or diagnostic procedures from 165 centres in 31 European countries between March 2016 and January 2017. PATIENTS: The data included 5609 patients undergoing 6542 procedures. Inclusion criteria was a peri-operative red blood cell transfusion. MAIN OUTCOME MEASURES: The primary endpoint was the haemoglobin level triggering a transfusion for neonates in week 1, week 2 and week 3. Secondary endpoints were transfusion volumes, 'delta haemoglobin' (preprocedure - transfusion-triggering) and 30-day and 90-day morbidity and mortality. RESULTS: Peri-operative red blood cell transfusions were recorded during 447 procedures (6.9%). The median haemoglobin levels triggering a transfusion were 9.6 [IQR 8.7 to 10.9] g dl-1 for neonates in week 1, 9.6 [7.7 to 10.4] g dl-1 in week 2 and 8.0 [7.3 to 9.0] g dl-1 in week 3. The median transfusion volume was 17.1 [11.1 to 26.4] ml kg-1 with a median delta haemoglobin of 1.8 [0.0 to 3.6] g dl-1. Thirty-day morbidity was 47.8% with an overall mortality of 11.3%. CONCLUSIONS: Results indicate lower transfusion-triggering haemoglobin thresholds in clinical practice than suggested by current guidelines. The high morbidity and mortality of this NECTARINE sub-cohort calls for investigative action and evidence-based guidelines addressing peri-operative red blood cell transfusions strategies. TRIAL REGISTRATION: ClinicalTrials.gov, identifier: NCT02350348

    Multi-user spectral allocation model for decentralized cognitive radio networks

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    El crecimiento de las aplicaciones inalámbricas plantea nuevos de safíos a los futuros sistemas de comunicación, como el uso ineficiente del espectro radioeléctrico. Las redes de radio cognitiva surgen como una solución a los problemas de escasez de espectro y uso ineficiente del recurso espectral, mediante el acceso dinámico al espectro. Estas redes están caracterizadas por percibir, aprender, planificar (toma de decisiones) y actuar de acuerdo con las condiciones actuales de la red. El objetivo general de una red de radio cognitiva consiste en que el usuario secundario acceda de manera oportuna a un canal de frecuencia disponible en una banda licenciada, sin generar interferencia al usuario primario, lo cual se puede lograr con una adecuada toma de decisión espectral. La probabilidad de que dos o más usuarios secundarios elijan el mismo canal es alta, especialmente cuando el número de usuarios secundarios es mayor que el número de canales disponibles, y cuantos más usuarios secundarios seleccionen el mismo canal, menor será la utilidad que cada uno pueda obtener y el número de interferencias por acceso simultáneo será mayor. El desafío consiste entonces en dotar los nodos de una red descentralizada con la capacidad de aprender del entorno, proponiendo estrategias que les permita a los usuarios secundarios tomar decisiones e intercambiar información de forma cooperativa o competitiva, en un ambiente de acceso multiusuario al espectro. Asimismo, este libro busca resolver la pregunta: ¿cómo y en qué medida se puede reducir la tasa de handoff espectral en redes de radio cognitiva descentralizadas con un enfoque multiusuario y colaborativoThe growth of wireless applications poses new challenges to future communication systems, such as the inefficient use of the radio spectrum. Cognitive radio networks emerge as a solution to the problems of spectrum scarcity and inefficient use of the spectral resource, through dynamic access to the spectrum. These networks are characterized by perceiving, learning, planning (decision making), and acting according to current network conditions. The general objective of a cognitive radio network is for the secondary user to timely access an available frequency channel in a licensed band, without generating interference to the primary user, which can be achieved with adequate spectral decision making. The probability that two or more secondary users will choose the same channel is high, especially when the number of secondary users is greater than the number of available channels, and the more secondary users select the same channel, the lower the utility each can obtain and the number of interferences due to simultaneous access will be greater. The challenge then consists of providing the nodes of a decentralized network with the ability to learn from the environment, proposing strategies that allow secondary users to make decisions and exchange information cooperatively or competitively, in an environment of multi-user access to the spectrum. Likewise, this book seeks to resolve the question: how and to what extent can the spectral handoff rate be reduced in decentralized cognitive radio networks with a multi-user and collaborative approach?Bogot

    Modelos de la propagación de enfermedades infecciosas

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    Modelo de Kermack y McKendrick. Modelos de compartimientos. Período de exposición no infeccioso. Tiempos de espera. Población total variable. Transmisión por vectores. Propagación del VIH. Estructura social. Sistema axiomático de apareamiento. SIDA con infectividad variable. Transmisión de la influenza. Introducción a los modelos probabilísticos. Modelos estocásticos en epidemiología. Modelos estocásticos para la dispersión espacial de especies. La dinámica de un virus dentro del huésped. La importancia de la pedagogía matemática en el modelaje matemático. BibliografiaLa preparación de este manuscrito es producto de la colaboración de múltiples generaciones de biólogos matemáticos. La historia del libro inicia en 1996 cuando Carlos Castillo-Chávez fundó el MTBI en la Universidad de Comell. Este programa de verano se realizó desde entonces en conjunto con diversas instituciones: la Universidad de Comell en los años 1996 - 2003, el laboratio nacional de los Alamos en el período 2003 - 2005, Y la Universidad Estatal de Arizona en los años 2004 - 2014. El objetivo del MTBI ha sido fomentar el desarrollo académico y científico de grupos minoritarios en los Estados Unidos y toda Latinoamérica. El presente libro ha sido escrito con el objetivo de motivar a los jóvenes matemáticos y biólogos latinoamericanos interesados en encontrar soluciones a los retos originados por factores de tipo social y ambiental. Este día, en el marco del sexagésimo aniversario del Departamento de Matemáticas de la Universidad del Valle, gracias al esfuerzo de todas aquellas personas que han contribuido a fomentar el desarrollo de la matemática en Colombia, el profesor Carlos Castillo-Chávez ha elegido publicar este volumen de forma gratuita en la red, como tributo a este destacado proces

    ZBTB16-RARα-Positive Atypical Promyelocytic Leukemia: A Case Report

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    Background: The majority of patients with acute promyelocytic leukemia (APL) manifest a specific chromosomal translocation t(15;17)(q22;q21), characterized by the fusion of RARA and PML genes. However, a proportion of APL cases are due to variant translocations, being t(11;17) (q23;q21) the most common amongst them. With the major exception of ZBTB16-RARA t(11;17) APL, these variant APL cases present similar morphological features as classic APL and are characterized by a lack of differentiation response to retinoids. Case summary: We describe the case of variant APL with the ZBTB16-RARA fusion gene, showing a distinct morphology of classical APL, characterized by crystalline intracytoplasmic inclusions in both peripheral blood (PB) and bone marrow (BM) patients’ blasts. Our patient was treated with two courses of intensive chemotherapy, initiating maintenance treatment with all-trans retinoic acid (ATRA) on day twenty-eight of the second course. Our patient achieved complete remission (CR) once the intensive chemotherapy was combined with ATRA.Conclusions: This is the second case described of APL with t(11;17) that showed crystalline intracytoplasmic inclusions. The finding of these morphological features may suggest the presence of a variant translocation with RARA, being that both cases described are related to the presence of t(11;17). Despite induction treatment with intensive chemotherapy that included a seven-day continuous treatment with cytarabine (200 mg/m2), plus daily idarubicin (12 mg/m2) during the first three days, our patient did not achieve complete remission (CR) until scheduled 3 + 7 regimen combined with ATRA treatment was established. This observation suggests that ATRA may be partially effective in some ZBTB16-RARA APLs

    Novel Candidate <i>loci</i> and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing

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    The familial occurrence of hematological malignancies has been underappreciated. Recent studies suggest that up to 15% of adults with myeloid neoplasms carry germline pathogenic variants in cancer-predisposing genes. This study aimed to identify the underlying germline predisposition variant in patients with a strong family or personal onco-hematological history using whole exome sequencing on sixteen uncharacterized individuals. It was carried out in two groups of patients, one with samples available from two affected relatives (Cohort A) and one with available samples from the index case (Cohort B). In Cohort A, six families were characterized. Two families shared variants in genes associated with DNA damage response and involved in cancer development (CHEK2 and RAD54L). Pathogenic or likely pathogenic germline variants were also found in novel candidate genes (NFATC2 and TC2N). In two families, any relevant pathogenic or likely pathogenic genomic variants were identified. In Cohort B, four additional index cases were analyzed. Three of them harbor clinically relevant variants in genes with a probable role in the development of inherited forms of hematological malignancies (GATA1, MSH4 and PRF1). Overall, whole exome sequencing is a useful approach to achieve a further characterization of these patients and their mutational spectra. Moreover, further investigations may help improve optimization for disease management of affected patients and their families
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