Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The mutations in the CFTR gene found in patients with cystic fibrosis (CF) have geographic differences, but there are scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced. A total of 36 different mutations were identified, seven with frequencies greater than 1%: p.Phe508del (27.27%), p.Gly542* (3.18%), c.2988+1G>A (3.18%), p.Arg334Trp (1.36%), p.Arg1162* (1.36%), c.1-8G>C (1.36%), and p.[Gly628Arg;Ser1235Arg](1.36). In 40% of patients, all with a clinical diagnosis of CF, no mutations were found. This report represents the largest cohort of Venezuelan patients with CF ever examined, and includes a wider mutation panel than has been previously studied in this population. Mutations common in Southern European populations predominate, and several new mutations were discovered, but no mutations were found in 40% of the cohort.

Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.

Mutations in the CFTR gene in Cystic Fibrosis (CF) patients have geographic differences and there is scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in these patients. We amplified and sequenced exons 7, 10, 11, 19, 20 and 21, which contain the most common CFTR mutations, from 105 Venezuelan patients in the National CF Program. Eleven different mutations were identified, four with frequencies greater than 1%: p.Phe508del (26,17%), p.Gly542X (3,33%), p.Arg334Trp (1,43%) and p.Arg1162X (1.43%). No mutations were found in 63.3% of patients. This report represents the largest group of Venezuelan CF patients ever examined and includes a wider mutation panel than has been previously studied in this population. Southern European CFTR mutations predominate in the Venezuelan population, but a high percentage of the causative alleles remain unidentified.

Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis / Frecuencia de mutaciones comunes en el gen CFTR en pacientes venezolanos con fibrosis quística

Mutations in the CFTR gene in Cystic Fibrosis (CF) patients have geographic differences and there is scant data on their prevalence in Venezuelan patients. This study determined the frequency of common CFTR gene mutations in these patients. We amplified and sequenced exons 7, 10, 11, 19, 20 and 21, which contain the most common CFTR mutations, from 105 Venezuelan patients in the National CF Program. Eleven different mutations were identified, four with frequencies greater than 1%: p.Phe508del (26,17%), p.Gly542X (3,33%), p.Arg334Trp (1,43%) and p.Arg1162X (1.43%). No mutations were found in 63.3% of patients. This report represents the largest group of Venezuelan CF patients ever examined and includes a wider mutation panel than has been previously studied in this population. Southern European CFTR mutations predominate in the Venezuelan population, but a high percentage of the causative alleles remain unidentified.

Mutaciones en el gen CFTR en pacientes con Fibrosis Quística tienen diferencias geográficas y hay escasos datos de su prevalencia en pacientes Venezolanos. Este estudio determinó la frecuencia de mutaciones comunes presentes en el gen CFTR en estos pacientes. Nosotros examinamos los exones 7, 10, 11, 19, 20 y 21, que contienen las mutaciones más comunes reportadas, de pacientes Venezolanos del Programa Nacional de FQ, usando la reacción en cadena de la polimerasa y secuenciación automatizada. Once mutaciones diferentes fueron identificadas en 105 pacientes estudiados. Las mutaciones con frecuencias mayores a 1% fueron p.Phe508del (26,17%), p.Gly542X (3,33%), p.Arg334Trp (1,43%) y p.Arg1162X (1.43%). En el 63,35 de los pacientes ninguna mutación fue encontrada. Este reporte representa el grupo más grande de pacientes Venezolanos con FQ que ha sido examinado e incluido en el más amplio panel de mutaciones que ha sido examinado en esta población. Las mutaciones en el gen CFTR predominantes en el sur de Europa resultan ser las más predominantes en la población venezolana, pero un alto número de alelos resulta aún desconocido.

Diagnóstico de asma en el niño: [revisión] / Diagnosis of asthma in children: [review]

El asma es una enfermedad crónica inflamatoria de las vías aéreas, caracterizado por obstrucción aérea, la cual puede ser total o parcialmente reversible con o sin terapia específica. La inflamación de la vía aérea es el resultado de la interacción entre varias células, elementos celulares y citocinas. En individuos susceptibles, la inflamación aérea puede causar broncoespasmo recurrente o persistente, lo cual genera síntomas como dificultad respiratoria, falta de aliento, sensación de opresión torácica y tos. El asma infantil cuenta con varios fenotipos clínicos y diferentes estrategias terapéuticas. El diagnóstico de asma en niños necesita de un examen físico y una revisión adecuada de la historia médica actual y pasada. El diagnóstico del asma requiere de estudios especializados y descartar otras posibles causas.

Asthma is a chronic inflammatory disorder of the airway pathways characterized by an obstruction of airflow, which may be completely or partially reversed with or without specific therapy. Airway inflammation is the result of interactions between various cells, cellular elements and cytokines. In susceptible individuals, airway inflammation may cause recurrent or persistent broncho spasm, which causes symptoms including wheezing, breathlessness, chest tightness, and cough. Childhood asthma includes several different clinical phenotypes with different management strategies.The diagnosis of asthma in children requires a careful review of the child's current and past medical history, family history and a physical examination. Specialized testing is sometimes needed to diagnose asthma and to rule out other possible causes.