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Resumen: Actualmente estamos viviendo una pandemia causada por un nuevo agente infeccioso, coronavirus SARS-CoV-2, también conocido como COVID-19. Agente de alta contagiosidad y moderada letali dad, se ha diseminado rápidamente alrededor del mundo. Los pacientes con patología crónica y el personal de salud son grupos particularmente vulnerables frente a este agente. De ahí la relevancia de desarrollar estrategias preventivas y difundirlas ampliamente. El presente documento generado a solicitud del Directorio de la Rama de Gastroenterología infantil de la SOCHIPE tiene como objetivo entregar herramientas a los profesionales de la salud que trabajan con niños para tomar la mejor de cisión al momento de enfrentar a un paciente que requiera un procedimiento endoscópico o maneje a un paciente con sospecha o diagnóstico de enfermedad inflamatoria intestinal poder realizar en forma correcta la prevención de COVID-19.
Abstract: A pandemic disease caused by a new infectious agent, SARS-CoV-2 coronavirus, also known as CO- VID-19 is currently an urgent Public Health problem. This highly contagious and moderate lethal agent is rapidly spreading worldwide. Patients with chronic diseases and health care personnel are particularly vulnerable groups to this virus. Hence the importance of developing preventive strategies and disseminating them widely. This document, generated at the request of the Pediatric Gastroen terology Branch Directory of SOCHIPE, aims to provide tools for health care professionals working with children to make the best decision when faced with a patient requiring an endoscopic procedure or managing a patient with suspected or diagnosed Inflammatory Bowel Disease to properly prevent COVID-19.
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Background: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was < 5, 6-24,25-55 and > 56 nmol/grHb/h, respectively. Genotyping of TPMT (*1, *2, *3A, *3B, *3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype (*1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: *2 (n = 2), *3A (n = 13) and *3C (n = 1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8 ± 7.2 nmol/gHb/h) compared to heterozygous group (21.2 ± 3 nmol/ gHb/h; p < 0.001). Conclusions: Less than 10% of a Chilean population sample has a low enzymatic activity or allelic variants in the TPMT gene, supporting the use of thiopurines according to international recommendations.
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Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Metiltransferasas/genética , Chile , Población Blanca/genética , Población Blanca/estadística & datos numéricos , Frecuencia de los Genes , Genotipo , Indígenas Sudamericanos/genética , Indígenas Sudamericanos/estadística & datos numéricos , Metiltransferasas/metabolismo , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo GenéticoRESUMEN
Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.
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Adolescente , Adulto , Femenino , Humanos , Masculino , Fiebre Mediterránea Familiar/genética , Mutación/genética , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre Mediterránea Familiar/patología , Haplotipos/genética , SíndromeRESUMEN
La quemadura es una lesión accidental o voluntaria (ej. quemadura de periné como tratamiento popular de la enuresis), en la cual un agente daña los tejidos vivos, produciendo alteraciones inflamatorias locales y generales que pueden comprometer seriamente la homeostasis del niño afectado, influyendo seriamente en su crecimiento y desarrollo posterior