ß(2) -adrenoreceptor polymorphisms in asthmatic and non-asthmatic schoolchildren from Colombia and their relationship to treatment response.

Asthma is a chronic and recurrent disease. Its high prevalence around the world is the result of a complex interaction between genetic and environmental factors. The genetic aspects of susceptibility, severity, and response to treatment in asthma are of great scientific interest. The purpose of the study was to establish the relationship between the Gln27Glu and Arg16Gly alleles of the ß(2) -adrenergic receptor (ADRB2) gene with respect to the susceptibility to and severity of asthma, as well as the response to treatment in mestizo schoolchildren. 109 schoolchildren with asthma diagnosis and 137 asymptomatic controls were genotyped for the Arg16Gly and Gln27Glu alleles of the ADRB2 gene by minisequencing. Allele, genotype, and haplotype frequencies of the ADRB2 gene between asthmatic and non-asthmatic as well as demographic, clinical, and spirometric variables among asthmatic patients according to their genotype were compared. ADRB2 gene expression was determined by real-time quantitative PCR. No statistical differences were found in allele, genotype, and haplotype frequencies of the ADRB2 gene between cases and controls. We did not find differences between asthmatic patients classified according to their ADRB2 genotypes and haplotypes when evaluating demographic, clinical, and spirometric variables. The ADRB2 genotype and haplotype are not associated with spirometric responses or ADRB2 gene expression after administration of a ß-(2) agonist plus a glucocorticoid. These results suggest that in the group of mestizo schoolchildren studied, the Arg16Gly and Gln27Glu polymorphisms are not markers of susceptibility or severity of asthma and do not affect ADRB2 gene expression during the rescue therapy.

Meningocele torácico y lumbar asociada con neurofibromatosis tipo 1: a propósito de un caso / Thoracic and lumbar meningocele associated with neurofibromatosis type 1: on purpose of a case / Meningocele torácico e lombar associada à neurofibromatose tipo 1: a propósito de um caso

Introducción: se presentó al servicio de medicina interna del Hospital Universitario San Jorge, (Pereira), el caso de una paciente de 48 años con diagnóstico de neurofibromatosis tipo 1, con síntomas de 3 meses de disnea, dolor torácico izquierdo, tos escasa.Métodos y resultados: se encontró en la tomografía de tórax (TAC), un quisteintratorácico izquierdo, que corresponde a un meningocele lateral torácicoasociado a malformación de columna y múltiples neurofibromas plexiformesde manera simultánea; presentó un meningocele sacro posterior, ambos concrecimiento progresivo durante 6 años.Conclusión: el meningocele es una patología poco frecuente y usualmente se asocia con neurofibromatosis tipo 1. Pocos casos en la literatura describen meningocele intratorácico y sacro sincrónico.

Introduction: this is the service of internal medicine at San Jorge University Hospital, the case of a patient of 48 years with a diagnosis of neurofibromatosis type 1. Who had symptoms of 3 months of dyspnea, chest pain, and left little cough. Methods and results: we find in the chest CT scan left intrathoracic cyst corresponding to a lateral thoracic meningocele associated with multiple malformations of spine and plexiform neurofibromas, simultaneously, presenting a posterior sacral meningocele, both with progressive growth for six years. Discussion: the meningocele is a rare disease usually associated with neurofibromatosis type 1. Few cases described in the literature and sacred synchronous intrathoracic meningocele.

Introdução: apresentou-se ao serviço de medicina interna do Hospital Universitário São Jorge (Pereira), o caso de uma paciente de 48 anos com diagnóstico de neurofibromatose tipo 1, com sintomas de 3 meses de disnea, dor torácica esquerda, tosse escassa. Métodos e resultados: a tomografia do tórax (TAC) mostrou um quisto intratorácico esquerdo, que corresponde a um meningocele lateral torácico associado à má formação da coluna e múltiplos neurofibromas plexiformes, de maneira simultânea; apresentou um meningocele sacro posterior, ambos com crescimento progressivo durante seis anos. Conclusão: o meningocele é uma patologia pouco freqüente e, em geral, é associada à neuro-finromentose tipo 1. Poucos casos na literatura descrevem meningocele intratorácica e sacro sincrônico.

[Extrapulmonary tuberculosis: a review of 102 cases in Pereira, Colombia]. / Tuberculosis extrapulmonar: revisión de 102 casos en el Hospital Universitario San Jorge de Pereira, 2000-2004.

INTRODUCTION: Tuberculosis continues to be a serious public health problem worldwide. At the local institutional level, the magnitude of the problem must be assessed in terms of diagnosis efficiency and adequate use of resources. OBJECTIVE: to determine the disease focus and to summarize the epidemiologic, clinical, microbiologic, and diagnostic data, along with associated hospital costs in a third level public hospital. MATERIALS AND METHODS: A retrospective study based on clinical records of 102 patients with extrapulmonary tuberculosis occurring between 2000 and 2004 and discharged from the Hospital Universitario San Jorge in Pereira, Colombia, was carried out. RESULTS: The average patient age was 31.6 years; 62.7% were men and 70.6% were urban dwellers. The most frequent form was pleural TB with 47 cases, followed by the meningeal (19), lymphadenitis (13), peritoneal (5), miliary (4), genitourinary (4), pharyngeal (4), osteoarticular (3), skeletal (2), and pericardial (1) forms. The diagnostic methods were biopsy in 68 cases (66.6%), and clinical diagnosis in 28 (27.4%). Zielh-Neelsen stain diagnosed 3.9% of cases and bacterial culture 5.8%. The average hospital stay was 13 days. The average cost was of US dollar 2,410 per case. Fifteen patients died; of these 9 had AIDS and 8 had meningitis. CONCLUSIONS: The most frequent extrapulmonary forms were pleural tuberculosis, meningeal tuberculosis and lymphadenitis. The principal diagnostic method was the biopsy. A prolonged hospital stay was associated with a delay in diagnosis and AIDS infection. The highest mortality was associated with AIDS and the meningeal form of tuberculosis.

Tuberculosis extrapulmonar: revisión de 102 casos en el Hospital Universitario San Jorge de Pereira, 2000-2004 / Extrapulmonary tuberculosis: a review of 102 cases in Pereira, Colombia

Introducción. La tuberculosis continúa siendo un problema de salud pública en el mundo. Es necesario conocer su magnitud en cada institución, la oportunidad en el diagnóstico y la utilización de recursos. Objetivo. Determinar las localizaciones y caracterizar la tuberculosis extrapulmonar desde el punto de vista epidemiológico, clínico, microbiológico, de diagnóstico y de costos hospitalarios de los pacientes egresados en un hospital estatal de III nivel. Materiales y métodos. Estudio descriptivo retrospectivo realizado entre el 2000 y el 2004 mediante la revisión de historias clínicas y archivos de laboratorio de pacientes egresados con diagnóstico de tuberculosis extrapulmonar del Hospital Universitario San Jorge de Pereira, Colombia. Resultados. Se encontraron 102 casos, con promedio de edad de 31,6 años, de los cuales el 62,7 por ciento correspondía a hombres. El 70,6 por ciento procedía del área urbana y el 59,6 por ciento presentó síntomas clínicos mayores a los 15 días de evolución. La forma más frecuente de presentación fue la pleural, con 47 casos, seguida de la meníngea con 19, la ganglionar con 13, la peritoneal con 5, la miliar con 4, la genitourinaria con 4, la faríngea con 4, la articular con 3, la ósea con 2 y la pericárdica con 1 caso. Los métodos de diagnóstico más utilizados fueron la biopsia en 68 casos (66,6 por ciento), el clínico en 28 (27,4 por ciento). Por medio de baciloscopia con coloración de Zielh Neelsen, se diagnosticó el 3,9 por ciento, y con el cultivo de Mycobacterium tuberculosis, el 5,8 por ciento. El tiempo de estancia hospitalaria promedio fue de 13 días y el costo promedio fue de $5'784.603 por caso. Fallecieron 15 pacientes, de los cuales el 60 por ciento se asoció con sida, y 53,3 por ciento con meningitis. Conclusión. Las localizaciones más frecuentes fueron la pleural, la meníngea y la ganglionar. El principal método de diagnóstico fue la biopsia. La estancia prolongada se relacionó con demora en el diagnóstico y sida. La mortalidad fue mayor en los casos de sida y localización meníngea.