RESUMEN
Cystic Fibrosis is a multisystemic inherited disease that requires ongoing care by multidisciplinary teams. The objective of this study is to describe changes on nutrition and lung function in a cohort of patients in a Cystic Fibrosis (CF) Care Center at the Hospital Infantil Universitario San José in Bogotá (HIUSJ), between 2010 and 2013.Is a descriptive study in a cohort of CF patients during four years of follow-up. The quantitative variables were described using medians and interquartile ranges, and the qualitative variables with absolute frequencies and percentages. Descriptive statistics was used to summarize the findings. Of the 63 patients in the initial group, 47 (74.6%) completed the follow-up time. The age range was between 3 to 30 years. The median BMI increased as follows: 17.9 (RIQ: 12.5-25.6) in 2010, 18.6 (RIQ: 12.9-24.8) in 2011, 18.9 RIQ (13.6-26.5) in 2012 and 19.0 (RIQ: 13.5-25.8) in 2013, with lower values in men. The forced expiratory volume in the first second (FEV1) at admission was classified as severe (FEV1 <40%) in 7.1%, moderate (FEV1 40-69%) in 35.7%, mild (FEV1 70-79%) in 7.1% and as normal (FEV1> 80%) in 50%. It is concluded that during the 4 years of follow-up at the HIUSJ CF Center there is an improvement in BMI and a deterioration in lung function in the whole group. The importance of establishing more reference centers to improve clinical outcomes and of implement a National registry to follow up over time are highlighted.
La fibrosis quística es una enfermedad hereditaria, multisistémica, cuyo manejo continuo requiere de equipos multidisciplinarios de salud. El objetivo de este trabajo es describir la evolución nutricional y de la función pulmonar en una cohorte de pacientes en el centro de atención integral de la fibrosis quística (FQ), del Hospital Infantil Universitario San José de Bogotá (HIUSJB), entre 2010 y 2013. Estudio descriptivo, en una cohorte de pacientes, en seguimiento durante cuatro años. Las variables cuantitativas fueron descritas mediante medianas y rangos intercuartílicos y las cualitativas con frecuencias absolutas y porcentajes. De los 63 pacientes del grupo inicial, 47 (74.6%), completaron el tiempo de seguimiento. El rango de edad fue de 3 a 30 años. La mediana del IMC (índice de masa corporal) se incrementó así: 17.9 (RIQ:12.5-25.6) en el 2010, 18.6 (RIQ:12.9-24.8) en el 2011, 18.9 ( RIQ(13.6-26.5) en el 2012 y 19.0 (RIQ:13.5-25.8) en el 2013, con menores valores en los hombres. El volumen espiratorio forzado en el primer segundo (VEF1) al ingreso fue clasificado como severo (VEF1<40%) en el 7.1%, moderado (VEF1 40-69%) en el 35.7%, leve (VEF1 70-79%) en el 7.1% y como normal (VEF1>80%) en el 50%. Se concluye que durante los 4 años de seguimiento en el programa de FQ del HIUSJ, ocurre una mejoría del IMC en todo el grupo y un deterioro de la función pulmonar. Se resalta la importancia de constituir más centros de referencia para mejorar los desenlaces clínicos e implementar un registro Nacional para hacer seguimiento a través del tiempo.
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto , Adulto Joven , Pruebas de Función Respiratoria , Estado Nutricional , Prestación Integrada de Atención de Salud , Fibrosis Quística/fisiopatología , Pseudomonas aeruginosa/aislamiento & purificación , Staphylococcus aureus/aislamiento & purificación , Índice de Masa Corporal , Evolución Clínica , Volumen Espiratorio Forzado , Epidemiología Descriptiva , Estudios de Cohortes , Estudios de Seguimiento , Fibrosis Quística/microbiología , Hospitalización/estadística & datos numéricosRESUMEN
Several primary immunodeficiency diseases affecting the interleukin 12/interferon gamma (IFN-gamma) pathway have been identified, most of them characterized by recurrent and protracted infections produced by intracellular microorganisms, particularly by several species of mycobacteria. In the present study we analyzed the expression of IFN-gamma receptor (IFN-gammaR) and signal transducer and activator of transcription 1 (STAT-1) in 4 children with Mycobacterium tuberculosis infection of uncommon clinical presentation. These molecules were evaluated by flow cytometry and Western blotting in B cells transformed with Epstein-Barr virus and mutations were scanned by single-strand conformational polymorphisms and DNA sequencing. The expression of IFN-gammaR1 was normal in all 4 patients. The genetic analysis of IFN-gammaR1 and IFN-gammaR2 coding sequences did not reveal any mutation. The expression of the STAT-1 molecule was similar in patients and healthy controls; however, when the phosphorylation of this transcription factor in response to IFN-gamma activation was evaluated by Western blot, a significant lower signal was evident in one patient. These data indicate that there are no alterations in the expression or function of the IFN-gammaR chains in these patients. However, the low level of STAT-1 phosphorylation found in one of these patients might be explained by a defect in one of the molecules involved in the signal transduction pathway after IFN-gamma interacts with its receptor. In the other three patients the inability to eliminate the mycobacteria may be due to a defect in another effector mechanism of the mononuclear phagocytes.
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Niño , Infecciones por Mycobacterium , Mycobacterium tuberculosis , Western Blotting , Estudios de Casos y Controles , ADN Bacteriano , Citometría de Flujo , Genoma Bacteriano , Recuento de Linfocitos , Fenotipo , Fosforilación , Polimorfismo Conformacional Retorcido-Simple , TuberculosisRESUMEN
Several primary immunodeficiency diseases affecting the interleukin 12/interferon gamma (IFN-gamma) pathway have been identified, most of them characterized by recurrent and protracted infections produced by intracellular microorganisms, particularly by several species of mycobacteria. In the present study we analyzed the expression of IFN-gamma receptor (IFN-gammaR) and signal transducer and activator of transcription 1 (STAT-1) in 4 children with Mycobacterium tuberculosis infection of uncommon clinical presentation. These molecules were evaluated by flow cytometry and Western blotting in B cells transformed with Epstein-Barr virus and mutations were scanned by single-strand conformational polymorphisms and DNA sequencing. The expression of IFN-gammaR1 was normal in all 4 patients. The genetic analysis of IFN-gammaR1 and IFN-gammaR2 coding sequences did not reveal any mutation. The expression of the STAT-1 molecule was similar in patients and healthy controls; however, when the phosphorylation of this transcription factor in response to IFN-gamma activation was evaluated by Western blot, a significant lower signal was evident in one patient. These data indicate that there are no alterations in the expression or function of the IFN-gammaR chains in these patients. However, the low level of STAT-1 phosphorylation found in one of these patients might be explained by a defect in one of the molecules involved in the signal transduction pathway after IFN-gamma interacts with its receptor. In the other three patients the inability to eliminate the mycobacteria may be due to a defect in another effector mechanism of the mononuclear phagocytes.
Asunto(s)
Proteínas de Unión al ADN/metabolismo , Infecciones por Mycobacterium/microbiología , Mycobacterium tuberculosis/inmunología , Receptores de Interferón/metabolismo , Transactivadores/metabolismo , Western Blotting , Estudios de Casos y Controles , Niño , ADN Bacteriano/análisis , Proteínas de Unión al ADN/genética , Femenino , Citometría de Flujo , Humanos , Lactante , Recuento de Linfocitos , Masculino , Mycobacterium tuberculosis/patogenicidad , Fenotipo , Polimorfismo Conformacional Retorcido-Simple , Receptores de Interferón/genética , Factor de Transcripción STAT1 , Transactivadores/genética , Tuberculosis/microbiología , Receptor de Interferón gammaRESUMEN
Se practicaron pruebas espirométricas a 120 jóvenes en edades comprendidas entre 11 y l8 años, y de ambos sexos. Se relacionó la altura de pie y en cms, tanto de los varones como de las hembras, con cada una de las pruebas espirométricas practicadas, obteniéndose, las correspondientes ecuaciones de regresión. Se obtuvo una mejor correlación entre la altura y la capacidad vital (r = 0,88, p < 0,001), así como también con el VEF1 (r = 0,87, p < 0,001). La correlación fué menor, aunque todavía fue estadísticamente significativa, entre la talla y las otras pruebas, como son: FE25%-75%, FE75%-85%, y la Capacidad Máxima Voluntaria (CMV). Es de suponer que el uso de estas ecuaciones permitan obtener valores standars más exactos para nuestra población que los obtenidos con ecuaciones del exterior