ABSTRACT
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Introduction: Pediatric ulcerative colitis (CUP), pediatric Crohn's disease (PCD), and pediatric inflammatory bowel disease not classifiable (PIDNCID) have clinical and psychosocial particularities that differentiate them from those of adults and may condition different therapeutic approaches due to possible nutritional, growth and developmental repercussions, representing a challenge for the pediatrician and gastroenterologist. Objective: Develop expert consensus evidence-based recommendations for the timely and safe diagnosis and treatment of Pediatric Inflammatory Bowel Disease (PID) in children under 18 years of age for professionals caring for these patients and healthcare payers. Methodology: Through a panel of experts from the Colombian College of Pediatric Gastroenterology, Hepatology and Nutrition (COLGAHNP) and a multidisciplinary group, 35 questions were asked regarding the clinical picture, diagnosis, and treatment of PID. Through a critical review and analysis of the literature with particular emphasis on the main clinical practice guidelines (CPGs), randomized clinical trials (RCTs), and meta-analyses of the last ten years, from which the experts made 77 recommendations that responded to each of the research questions with their respective practical points. Subsequently, each of the statements was voted on within the developer group, including the statements that achieved > 80%. Results: All statements scored > 80%. PID has greater extension, severity, and evolution towards stenosis, perianal disease, extraintestinal manifestations, and growth retardation compared to adult patients, so its management should be performed by multidisciplinary groups led by pediatric gastroenterologists and prepare them for a transition to adulthood. Porto's criteria allow a practical classification of PID. In CPE, we should use the Paris classification and perform ileocolonoscopy and esophagogastroduodenoscopy, since 50% have upper involvement, using the SES-CD (UCEIS/Mayo in CUP) and taking multiple biopsies. Initial labs should include inflammatory markers and fecal calprotectin and rule out intestinal infections. Treatment, induction, and maintenance of PID should be individualized and decided according to risk stratification. Follow-up should use PCDAI and PUCAI for the last 48 hours. Immunologists and geneticists should evaluate patients with early and infantile PID. Conclusion: A consensus guideline is provided with evidence-based recommendations on timely and safe diagnosis and treatments in patients with ILD.
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Resumen El síndrome de Tourette es un trastorno neuropsiquiátrico de inicio en la infancia caracterizado por múltiples tics motores y vocales de al menos un año de duración. Se desconoce su etiología exacta, pero se han involucrado las vías neuronales fronto-subcorticales e interacciones complejas entre factores sociales, ambientales y genéticos. Estudios genéticos han reportado loci de susceptibilidad en genes implicados en conexión sináptica, sin embargo, hace falta evidencia en muestras de mayor tamaño. Este reporte de caso describe un joven de 14 años con historia personal y familiar de síndrome de Tourette, sugiriendo un mecanismo de herencia autosómico dominante.
Abstract Tourette syndrome is a childhood neuropsychiatric disorder characterized by multiple motor and vocal tics of at least one year. Its exact etiology is unknown, but fronto-subcortical neural pathways and complex interactions between social, environmental and genetic factors have been involved. Genetic studies have reported susceptibility loci in genes involved in synaptic connection, however, evidence is needed in larger samples. This case report describes a 14-year-old boy with a personal and family history of Tourette's syndrome, suggesting an autosomal dominant mechanism of inheritance.
ABSTRACT
Introducción: las anomalías congénitas son una alteración estructural o funcional con impacto en la morbilidad-mortalidad infantil y la discapacidad mundial. Las estrategias orientadas a disminuir su impacto las respaldan sistemas de vigilancia. En Colombia, desde el 2010 se incluyó el formato de notificación de anomalías congénitas en el Sistema de Vigilancia (Si vigila). Objetivo: caracterizar epidemiológicamente la notificación del evento desde su inclusión. Materiales y métodos: análisis descriptivo de los eventos notificados entre enero de 2010 y diciembre de 2013. Resultados: se encontró una prevalencia de malformaciones del 0,35 % en Colombia durante el periodo analizado. Las anomalías congénitas con mayor notificación fueron las del sistema nervioso central y las anomalías de extremidades. Conclusiones: la prevalencia notificada para malformaciones congénitas en Colombia es baja. La baja tasa de notificación de anomalías congénitas evidencia la necesidad de realizar capacitaciones para mejorar esta notificación, tener un registro más cercano a la realidad de la población y así poder tomar decisiones para el beneficio de la población y en la generación de conocimiento en este tema.
Introduction: Congemtal anomalías are a structural or functional alteration with impact on infant morbidity and mortalicy and disability worldwide. Strategies aimed to reduce their impact are supported by surveillance Systems. In Colombia, since 2010 the report of congenital anomalies was induded in the surveillance system (Sivígila). Aún: To characterize epidemiologically the notificación of the event from its inclusión. Materials and methods: Is carried out descriptive analysis of the events reported during January of 2010 to December of 2013. Results: We found a prevalence of congenital malformations of 0.35% in Colombia during the analyzed period. The congenital anomalies with more frequent notification were those of the central nervous system and the anomalies of limbs. Conclusions: The prevalence reported for congenical malformations in Colombia ¿s low compared to that reported in the literatura that is between 3.0'?.0% of the population. The low rate of notification for congenital anomalies evidence the need for training to improve the notification of this event, to have a record dorar to the reality of the population and thus be able to take decisions for the benefit of the population and in the generation of knowledge on this topic.
Subject(s)
Congenital Abnormalities/diagnosis , Epidemiological MonitoringABSTRACT
Introducción. La apendicitis aguda es una de las principales causas de dolor abdominal y es la indicación quirúrgica más común por abdomen agudo. Existen pocos estudios sobre apendicitis en la población latinoamericana. Objetivo. Evaluar la frecuencia de los hallazgos histopatológicos de la apendicitis en una población de Boyacá (Colombia) y, con mayor detalle, los de apendicitis gangrenosa. Materiales y métodos. Se trata de un estudio descriptivo retrospectivo de los especímenes de apendicitis aguda de la base de datos del Departamento de Patología del Hospital San Rafael de Tunja, durante el periodo de enero a diciembre de 2011. Además, se revisaron de forma retrospectiva las historias clínicas de los pacientes con apendicitis gangrenosa. Resultados. Se encontraron 1.688 informes de histopatología de apendicitis aguda. Las muestras de tejidos provenían de siete áreas diferentes del departamento de Boyacá. Los estadios, por orden de frecuencia, fueron: apendicitis supurativa aguda (49 %), gangrenosa (24 %), apéndice normal (18 %) y apéndice edematoso (7 %). Otros diagnósticos histopatológicos (1 % del total de la muestra) fueron linfoma de Hodgkin, endometriosis, neuroma, tuberculosis apendicular, adenocarcinoma apendicular y tumores neuroendocrinos en el apéndice. Discusión. Se encontró que en la población boyacense, la apendicitis supurativa fue la presentación más frecuente, seguida de la gangrenosa. El diagnóstico de apendicitis gangrenosa mediante el examen físico, representa un reto para el médico. Este es el primer estudio en que se analiza una muestra de diagnósticos histopatológicos de apendicitis a nivel departamental en Colombia.
Introduction: Acute appendicitis is one of the leading causes of abdominal pain and is the most common surgical presentation of acute abdomen. Studies on appendicitis in the Latin American populations are scarce. The aim of this study was to evaluate the pathological findings of appendicitis in a population in the state of Boyacá, Colombia, and, with deeper detail, those with gangrenous appendicitis. Materials and Methods: Retrospective study of all acute appendicitis specimens in the Department of Pathology at San Rafael Hospital in the city of Tunja, Boyacá, between January and December of 2011. Review of clinical records of patients with gangrenous appendicitis was also performed. Results: During the one year period there were 1,688 histopathology reports of acute appendicitis. All specimens came from seven different areas in the state (departamento) of Boyacá. The results were as follows: acute suppurative appendix (49%,) followed by gangrenous-perforated appendix (24%), normal histology (18%), and edematous appendix (7%). Other histopathological diagnoses (1% of the total sample) were Hodgkin´s lymphoma, endometriosis, neuroma, appendicular tuberculosis, appendiceal adenocarcinoma, and neuroendocrine tumors of the appendix. Discussion: We found that in the state of Boyacá's population, suppurative appendicitis was the most common presentation, followed in frequency by gangrenous appendicitis. The diagnosis by physical examination of gangrenous appendicitis is still a challenge for the clinician. This is the first study that reviews appendicitis samples in one Colombian state.
Subject(s)
Appendicitis , Pathology, Clinical , Appendectomy , HistologyABSTRACT
En estudios previos se han relacionado las alteraciones funcionales del eje hipotálamohipofisario-adrenal y el estrés temprano; por ejemplo, el aumento en la producción de corticotropina (ACTH) y glucocorticoide como factor clave en la fisiopatología de trastornos del estrés como la depresión. En este artículo se presentan los resultados de estudios en epigenética en busca del posible nexo entre el estrés temprano, la disminución en la expresión del receptor de glucocorticoide y la hiperactividad del eje hipotálamo-hipofisario-adrenal. De esta manera, se identifica al estrés temprano como modulador del neurodesarrollo de las estructuras cerebrales implicadas en la respuesta frente al estrés, así como el papel del receptor de glucocorticoide en dicho proceso.
Previous studies have shown how Hypothalamic-Pituitary-adrenal Axis dysfunction is related to early life stress; several works show that Hypothalamic-Pituitary-adrenal Axishyperactivity increases production of ACTH and glucocorticoids, indicating a pathophysiological key factor in stress related diseases like depression. This review will discuss results of some epigenetical studies linking early life stress, decreased production of the glucocorticoid receptor and Hypothalamic-Pituitary-adrenal Axis hyperactivity. We conclude how early life stress modulates the expression of the glucocorticoid receptor affecting the development of several brain structures involved in the stress response.