CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

Prática clínica cotidiana versus a evidência científica no manejo fisioterapêutico da dor lombar crónica inespecífica

Introducción: El 80 % de los adultos experimenta dolor lumbar por lo menos una vez en su vida. El dolor lumbar es la tercera causa de consulta en urgencias, la cuarta en medicina general, la segunda de pension por invalidez y la primera de reubicacion laboral. Objetivo: Comparar los criterios que orientan la toma de decisiones de un grupo de fisioterapeutas en Bogota, Colombia para el manejo del dolor lumbar cronico inespecifico con los criterios de manejo contenidos en la guia COST B13 (European Guidelines For The Management Of Chronic Non-Specific Low Back Pain, 2004). Materiales y método: Se trato de un estudio descriptivo, en el cual se selecciono la guia de practica clinica COST B13 para el manejo de dolor lumbar cronico inespecifico mediante la herramienta AGREE y se aplico una encuesta a 50 fisioterapeutas por medio de un muestreo por conveniencia con el fin de comparar las practicas clinicas que se realizan frente a las recomendaciones dadas en la guia. Resultados: El 56 % de los encuestados contaba con algun tipo de entrenamiento para el manejo del Dolor Lumbar Cronico Inespecifico (DLCI). El 94 % de los pacientescon DLCI atendidos oscilan en edades de 40 a 59 anos, con predominio del sexo femenino. En el 80 % de los fisioterapeutas encuestados manifesto que la ayuda diagnostica con la que cuentan para el manejo de los pacientes es la imagen radiologica. El 80 % de los fisioterapeutas evalua la variable de dolor lumbar experimentado por el paciente y el 54 % la postura. Otros aspectos fueron reportados en menor porcentaje como test neurales, rangos de movimiento y pruebas de flexibilidad muscular. En el tratamiento del DLCI, los fisioterapeutas reportan hacer uso de los estiramientos en el 80 % de los casos, la termoterapia superficial, en el 70 % y el fortalecimiento muscular isometrico, en el 70 %, todos con resultados favorables. Conclusión: Existen diferencias entre la practica clinica y los lineamientos contenidos en las recomendaciones dadas por la guia COST B13 para DLCI, principalmente en los procesos de evaluacion clinica, ya que suelen estar centrados en la observacion y no siempre en la medicion rigurosa, lo que dificulta la posibilidad de establecer indicadores de proceso y desenlace en el diagnostico y tratamiento de los pacientes con DLCI.Introduction: 80 % of adults experience back pain at least once in their life. Back pain is the third leading cause of consultation in the emergency room, the fourth in general practice, the second of disability pension and the first job relocation. Objective: To compare the criteria that guide decision making of a group of physiotherapists in Bogota Colombia for the management of chronic nonspecific low back pain management criteria contained in the guide COST B13 (European Guidelines For The Management Of Chronic Non- specific Low Back Pain, 2004). Material and methods: This was a descriptive study, for which clinical practice guideline COST B13 for the management of chronic nonspecific low back pain through the AGREE tool is selected anda survey was applied to 50 physiotherapists through a convenience sample with to compare the clinical practices that are performed with the recommendations given guidance. Results: 56 % of respondents had some type of training for the management of chronic nonspecific low back pain (DLCI). 94 % of patients with DLCI served range in age from 40 to 59, with female predominance. In 80 % of respondents stated that physiotherapists diagnostic help with counting for the management of patients is the radiological image. 80 % of physiotherapists evaluated variable lumbar pain experienced by the patient and 54 % stance. Other aspects were reported in lower percentage. In the treatment of DLCI, physiotherapists reported use of stretching in 80 %of cases, the superficial thermotherapy in 70 % and isometric muscle strength in 70 %, all with favorable results. Conclusion: There are differences between clinical practice of physiotherapists and guidelines contained in the recommendations of the guide in the cost DLCI B13. Mainly in the processes of physiotherapy assessment of the surveyed population as they are often focusedon observation and not always in the rigorous measurement, which makes it difficult to establish indicators of process and outcome in the diagnosis and treatment of patients with DLCI. Introducao: o 80% dos adultos experimenta dor lombar pelo menos uma vez em sua vida; a dor lombar e a terceira causa de consulta em emergencias, a quarta em medicina geral, a segunda de pensao por invalidez e a primeira de deslocalizacao laboral. Objetivo: Comparar os criterios que orientam a tomada de decisoes de um grupo de fisioterapeutas em Bogota, Colombia, para o manejo da dor lombar cronica inespecifico com os criterios de manejo conteudos na guia COST B13 (European Guidelines For The Management Of Chronic Non-Specific Low Back Pain, 2004). Materiais e metodos: tratou-se de um estudo descritivo, no qual se selecionou a guia de pratica clinica COSTB13 para o manejo de dor lombar cronico inespecifico atraves da ferramenta AGREE e se aplicou uma enquete a 50 fisioterapeutas atraves de uma amostragem por conveniencia como fim de comparar as praticas clinicas que se realizam frente as recomendacoes dadas na guia. Resultados: o 56% dos questionados contavam com algum tipo de treinamento para o manejo da dor lombar cronico inespecifico (DLCI). O 94% dos pacientes com DLCI atendidos oscilam em idades de 40 a 59 anos, com predominio do sexo feminino. O 80% dos fisioterapeutas avalia a variavel de dor lombar experimentado pelo paciente e o 54% a postura. Outros aspectos foram reportados em menor porcentagem como teste neurais, rasgos de movimentos, e provas de flexibilidade muscular. No tratamento da DLCI, os fisioterapeutas reportam fazer uso dos estiramentos no 80% dos casos, a termoterapia superficial no 70% e o fortalecimento muscular isometrico no 70%, todos com resultados favoraveis. Conclusoes: Existem diferencas entre a pratica clinica e os lineamentos conteudos nas recomendacoes dadas pela guia COST B12 para DLCI principalmente nos processos de avaliacao clinica devido a que costumam estar centrados na observacao e nao sempre na medicao rigorosa o que dificulta a possibilidade de estabelecer indicadores de proceso e desenlace no diagnostico e tratamento dos pacientes com DLCI

Daily Practice Clinic of Scientific Evidence in the Physiotherapy Management of Chronic Nonspecific Low Back Pain

Introduction: 80 % of adults experience back pain at least once in their life. Back pain is the third leading cause of consultation in the emergency room, the fourth in general practice, the second of disability pension and the first job relocation. Objective: To compare the criteria that guide decision making of a group of physiotherapists in Bogota Colombia for the management of chronic nonspecific low back pain management criteria contained in the guide COST B13 (European Guidelines For The Management Of Chronic Non- specific Low Back Pain, 2004). Material and methods: This was a descriptive study, for which clinical practice guideline COST B13 for the management of chronic nonspecific low back pain through the AGREE tool is selected and a survey was applied to 50 physiotherapists through a convenience sample with to compare the clinical practices that are performed with the recommendations given guidance. Results: 56 % of respondents had some type of training for the management of chronic nonspecific low back pain (DLCI). 94 % of patients with DLCI served range in age from 40 to 59, with female predominance. In 80 % of respondents stated that physiotherapists diagnostic help with counting for the management of patients is the radiological image. 80 % of physiotherapists evaluated variable lumbar pain experienced by the patient and 54 % stance. Other aspects were reported in lower percentage. In the treatment of DLCI, physiotherapists reported use of stretching in 80 % of cases, the superficial thermotherapy in 70 % and isometric muscle strength in 70 %, all with favorable results.Conclusion: There are differences between clinical practice of physiotherapists and guidelines contained in the recommendations of the guide in the cost DLCI B13. Mainly in the processes of physiotherapy assessment of the surveyed population as they are often focused on observation and not always in the rigorous measurement, which makes it difficult to establish indicators of process and outcome in the diagnosis and treatment of patients with DLCI

Prática clínica cotidiana versus a evidência científica no manejo fisioterapêutico da dor lombar crónica inespecífica

Introducción: El 80 % de los adultos experimenta dolor lumbar por lo menos una vez en su vida. El dolor lumbar es la tercera causa de consulta en urgencias, la cuarta en medicina general, la segunda de pension por invalidez y la primera de reubicacion laboral. Objetivo: Comparar los criterios que orientan la toma de decisiones de un grupo de fisioterapeutas en Bogota, Colombia para el manejo del dolor lumbar cronico inespecifico con los criterios de manejo contenidos en la guia COST B13 (European Guidelines For The Management Of Chronic Non-Specific Low Back Pain, 2004). Materiales y método: Se trato de un estudio descriptivo, en el cual se selecciono la guia de practica clinica COST B13 para el manejo de dolor lumbar cronico inespecifico mediante la herramienta AGREE y se aplico una encuesta a 50 fisioterapeutas por medio de un muestreo por conveniencia con el fin de comparar las practicas clinicas que se realizan frente a las recomendaciones dadas en la guia. Resultados: El 56 % de los encuestados contaba con algun tipo de entrenamiento para el manejo del Dolor Lumbar Cronico Inespecifico (DLCI). El 94 % de los pacientescon DLCI atendidos oscilan en edades de 40 a 59 anos, con predominio del sexo femenino. En el 80 % de los fisioterapeutas encuestados manifesto que la ayuda diagnostica con la que cuentan para el manejo de los pacientes es la imagen radiologica. El 80 % de los fisioterapeutas evalua la variable de dolor lumbar experimentado por el paciente y el 54 % la postura. Otros aspectos fueron reportados en menor porcentaje como test neurales, rangos de movimiento y pruebas de flexibilidad muscular. En el tratamiento del DLCI, los fisioterapeutas reportan hacer uso de los estiramientos en el 80 % de los casos, la termoterapia superficial, en el 70 % y el fortalecimiento muscular isometrico, en el 70 %, todos con resultados favorables. Conclusión: Existen diferencias entre la practica clinica y los lineamientos contenidos en las recomendaciones dadas por la guia COST B13 para DLCI, principalmente en los procesos de evaluacion clinica, ya que suelen estar centrados en la observacion y no siempre en la medicion rigurosa, lo que dificulta la posibilidad de establecer indicadores de proceso y desenlace en el diagnostico y tratamiento de los pacientes con DLCI.Introducao: o 80% dos adultos experimenta dor lombar pelo menos uma vez em sua vida; a dor lombar e a terceira causa de consulta em emergencias, a quarta em medicina geral, a segunda de pensao por invalidez e a primeira de deslocalizacao laboral. Objetivo: Comparar os criterios que orientam a tomada de decisoes de um grupo de fisioterapeutas em Bogota, Colombia, para o manejo da dor lombar cronica inespecifico com os criterios de manejo conteudos na guia COST B13 (European Guidelines For The Management Of Chronic Non-Specific Low Back Pain, 2004). Materiais e metodos: tratou-se de um estudo descritivo, no qual se selecionou a guia de pratica clinica COSTB13 para o manejo de dor lombar cronico inespecifico atraves da ferramenta AGREE e se aplicou uma enquete a 50 fisioterapeutas atraves de uma amostragem por conveniencia como fim de comparar as praticas clinicas que se realizam frente as recomendacoes dadas na guia. Resultados: o 56% dos questionados contavam com algum tipo de treinamento para o manejo da dor lombar cronico inespecifico (DLCI). O 94% dos pacientes com DLCI atendidos oscilam em idades de 40 a 59 anos, com predominio do sexo feminino. O 80% dos fisioterapeutas avalia a variavel de dor lombar experimentado pelo paciente e o 54% a postura. Outros aspectos foram reportados em menor porcentagem como teste neurais, rasgos de movimentos, e provas de flexibilidade muscular. No tratamento da DLCI, os fisioterapeutas reportam fazer uso dos estiramentos no 80% dos casos, a termoterapia superficial no 70% e o fortalecimento muscular isometrico no 70%, todos com resultados favoraveis. Conclusoes: Existem diferencas entre a pratica clinica e os lineamentos conteudos nas recomendacoes dadas pela guia COST B12 para DLCI principalmente nos processos de avaliacao clinica devido a que costumam estar centrados na observacao e nao sempre na medicao rigorosa o que dificulta a possibilidade de estabelecer indicadores de proceso e desenlace no diagnostico e tratamento dos pacientes com DLCI.Introduction: 80 % of adults experience back pain at least once in their life. Back pain is the third leading cause of consultation in the emergency room, the fourth in general practice, the second of disability pension and the first job relocation. Objective: To compare the criteria that guide decision making of a group of physiotherapists in Bogota Colombia for the management of chronic nonspecific low back pain management criteria contained in the guide COST B13 (European Guidelines For The Management Of Chronic Non- specific Low Back Pain, 2004). Material and methods: This was a descriptive study, for which clinical practice guideline COST B13 for the management of chronic nonspecific low back pain through the AGREE tool is selected anda survey was applied to 50 physiotherapists through a convenience sample with to compare the clinical practices that are performed with the recommendations given guidance. Results: 56 % of respondents had some type of training for the management of chronic nonspecific low back pain (DLCI). 94 % of patients with DLCI served range in age from 40 to 59, with female predominance. In 80 % of respondents stated that physiotherapists diagnostic help with counting for the management of patients is the radiological image. 80 % of physiotherapists evaluated variable lumbar pain experienced by the patient and 54 % stance. Other aspects were reported in lower percentage. In the treatment of DLCI, physiotherapists reported use of stretching in 80 %of cases, the superficial thermotherapy in 70 % and isometric muscle strength in 70 %, all with favorable results. Conclusion: There are differences between clinical practice of physiotherapists and guidelines contained in the recommendations of the guide in the cost DLCI B13. Mainly in the processes of physiotherapy assessment of the surveyed population as they are often focusedon observation and not always in the rigorous measurement, which makes it difficult to establish indicators of process and outcome in the diagnosis and treatment of patients with DLCI.

Morphological and Molecular Characterization of the Benthic Dinoflagellate <i>Amphidinium</i> from Coastal Waters of Mexico

The genus Amphidinium Clap. & J. Lachm. comprises a high diversity of planktonic and benthic (epiphytic and sand-dwelling) dinoflagellates from marine and freshwater ecosystems. High morphological plasticity and vaguely defined genus characteristics (e.g., a small epicone size) have complicated the clear delineation of species boundaries. Although six Amphidinium morphospecies have been reported from Mexican coastal waters, species identifications are uncertain and not generally supported by molecular phylogenetic data. In this study, seven isolates of Amphidinium from diverse benthic coastal locations on the NE Pacific, Gulf of California, and southern Gulf of Mexico were subjected to critical morphological analysis using photonic and scanning electron microscopy. The phylogenetic reconstruction was based on nuclear-encoded, partial large-subunit (LSU) rDNA and internal transcribed spacer I and II (ITS1 and ITS2) sequences. The revised phylogenetic analysis was consistent with the traditional subdivision of the genus Amphidinium into two sister groups: Herdmanii and Operculatum clades. This study provided the first confirmed records of A. theodorei and A. massartii from coastal waters of Mexico. The molecular phylogenetic evidence indicated that the morphologically described A. cf. carterae from Baja California was in fact more closely allied with A. eilatiensis sequences. A few Amphidinium species are known to form toxigenic (i.e., fish-killing) harmful algal blooms worldwide, and therefore knowledge on species diversity and biogeography is critical in developing effective strategies for evaluating the potential emerging threat in Mexican coastal waters

Política criminal y “prevención”

Este libro es el producto de las investigaciones de 2014 que se socializaron en el Congreso Nacional de Política Criminal y ""Prevención"" en el que se presentaron diferentes posturas y críticas al concepto de ""prevención"" del delito. La primera parte del libro la hemos denominado ""Una crítica al concepto de prevención"", en ella se contemplan los siguientes capítulos: ""Políticas públicas y 'prevención' en Colombia"", en este se confronta una política criminal garantista con una política crimina..

Política criminal y “prevención”

Este libro es el producto de las investigaciones de 2014 que se socializaron en el Congreso Nacional de Política Criminal y "Prevención" en el que se presentaron diferentes posturas y críticas al concepto de "prevención" del delito. La primera parte del libro la hemos denominado "Una crítica al concepto de prevención", en ella se contemplan los siguientes capítulos: "Políticas públicas y 'prevención' en Colombia", en este se confronta una política criminal garantista con una política criminal reactiva; "Prevenciones sobre la prevención: algunas consideraciones desde la criminología", allí se analizan ciertos argumentos clásicos de las políticas de prevención del delito, señala algunos de sus límites y elabora algunas críticas contemporáneas; "Una política criminal desde la garantía de los derechos económicos sociales y culturales: una aproximación al enfoque de género", identifica algunos obstáculos para el logro de una política de prevención del delito desde la garantía de los derechos económicos, sociales y culturales en las mujeres; "La necesidad de una política preventiva verde en Colombia", en el que se desarrolla la tesis según la cual una macropolítica pública de prevención de daños en Colombia debe tener como constituyente central el componente ambiental; y "Programas socioeducativos para resocialización en el contexto penitenciario", este analiza la efectividad de cinco programas socioeducativos en prisión. La segunda parte del libro se titula "Algunos métodos para una política criminal preventiva", en el que encontramos los siguientes capítulos: "Propuesta metodológica para el análisis jurídico-económico del delito: construcción de indicadores auxiliares en la toma de decisiones de política criminal", que propone una metodología para el análisis jurídico-económico del delito; y "Métodos alternativos de solución de conflictos en la política criminal del Estado", el cual aborda la eficacia de la implementación y aplicación obligatoria de la conciliación

Leer en comunidad IV: creación y desarrollo de clubes de lectura de literatura escrita por mujeres dentro y fuera de la universidad

Depto. de Lengua Española y Teoría de la LiteraturaFac. de FilologíaFALSEunpu