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1.
Ter Arkh ; 85(3): 32-7, 2013.
Artículo en Ruso | MEDLINE | ID: mdl-23720840

RESUMEN

AIM: To investigate the clinical features of cystic fibrosis (CF) in adult patients with carbohydrate metabolic disturbances (CMD). MATERIAL AND METHODS: CF was diagnosed on the basis of its clinical picture and a positive sweat test, and/or genetic study. Clinical, anthropometric, functional, microbiological data were compared with the results of imaging diagnosis in CF patients with and without CMD. RESULTS: The data of 350 patients were retrospectively analyzed. An oral glucose tolerance test was randomly performed in 154 CF patients without CMD. There was normal carbohydrate metabolism in 92 (59.7%) patients with CF, impaired glucose tolerance (IGT) in 44 (28.6%), CF-dependent diabetes mellitus (CFDDM) in 18 (11.70%). The latter had been previously diagnosed in 37 (10.6%) other patients with CF. Three groups of patients were formed: 1) 92 patients without CMD; 2) 44 with IGT, and 3) 55 with CFDDM. The patients with CFDDM had lower stature, weight, and lung function, significantly more common bronchiectases, a lower Staphylococcus aureus colonization with a tendency toward a higher Burkholderia cepacia colonization than those without CMD. As compared with the patients without CMD, those with this disorder were found to have a high rate of severe mutations; mild mutations were absent in the patients with CFDDM. CONCLUSION: CMD in CF is characterized by its high rates and latent course. The patients with CMD have retarded physical development, more pronounced morphofunctional disorders in the bronchopulmonary system, lower lung functional parameters, and more aggressive sputum microbial composition.


Asunto(s)
Glucemia/metabolismo , Fibrosis Quística/complicaciones , Fibrosis Quística/metabolismo , Adulto , Infecciones por Burkholderia/complicaciones , Infecciones por Burkholderia/etiología , Infecciones por Burkholderia/metabolismo , Fibrosis Quística/microbiología , Diabetes Mellitus/etiología , Diabetes Mellitus/metabolismo , Diabetes Mellitus/microbiología , Femenino , Prueba de Tolerancia a la Glucosa , Humanos , Masculino , Enfermedades Metabólicas/etiología , Enfermedades Metabólicas/genética , Enfermedades Metabólicas/metabolismo , Estudios Retrospectivos , Infecciones Estafilocócicas/etiología , Infecciones Estafilocócicas/genética , Infecciones Estafilocócicas/metabolismo , Adulto Joven
2.
Genetika ; 39(5): 694-701, 2003 May.
Artículo en Ruso | MEDLINE | ID: mdl-12838617

RESUMEN

Allele distribution at a highly polymorphic minisatellite adjacent to the c-Hras1 gene as well as deletions of microsatellite markers, D3S966, D3S1298, D9S171, and a microsatellite within p53 gene, were examined in bronchial epithelium specimens obtained from 53 chronic obstructive pulmonary disease (COPD) patients and healthy donors. A higher frequency of rare Hras1 minisatellite alleles in COPD patients than in the individuals without pulmonary pathology (6.6% versus 2.2%; P < 0.05) was shown. This difference was most pronounced in the group of ten COPD patients with idiopathic pulmonary fibrosis. Three of these patients had rare Hras1 minisatellite allele (P < 0.02 in comparison with healthy controls). Alterations in at least one of the microsatellite markers (deletions or microsatellite instability) were detected in bronchial epithelium samples obtained from: 4 of 10 COPD patients with pneumofibrosis (40%); 15 of 43 COPD patients (34.9%) without pneumofibrosis; and 8 of 20 tobacco smokers (40%) without pulmonary pathology. These defects were not observed in the analogous samples obtained from healthy nonsmoking individuals. No statistically significant differences were revealed between COPD patients and healthy smokers upon comparison of both the total number of molecular defects and the number of defects in the individual chromosomal loci. The total number of molecular defects revealed in bronchial epithelium samples from the individuals of two groups examined correlated with the intensity of exposure to tobacco smoke carcinogens (r = 0.28; P < 0.05). These findings suggest that rare alleles at the Hras1 locus may be associated with hereditary predisposition to COPD and the development of pneumofibrosis, while mutations in microsatellite markers result from exposure to tobacco smoke carcinogens and are not associated with the appearance of these pathologies.


Asunto(s)
Repeticiones de Microsatélite , Repeticiones de Minisatélite , Enfermedad Pulmonar Obstructiva Crónica/genética , Adulto , Anciano , ADN Satélite , Genes p53 , Humanos , Masculino , Persona de Mediana Edad , Enfermedad Pulmonar Obstructiva Crónica/patología , Fibrosis Pulmonar/genética , Fumar/efectos adversos , Fumar/genética
3.
Ter Arkh ; 74(3): 62-5, 2002.
Artículo en Ruso | MEDLINE | ID: mdl-11980127

RESUMEN

AIM: To study clinical effectiveness and antioxidant activity of N-acetylcisteine (NAC) in daily doses 600, 1200, 1800 and 2400 mg in Chernobyl wreckers suffering from chronic obstructive pulmonary diseases (COPD). MATERIAL AND METHODS: Cough intensity and expectoration, malonic dialdehyde (MD), plasma calcium ions concentrations were studied in patients taking NAC. RESULTS: Cough intensity diminished insignificantly. Expectoration improved significantly only after intake of 1200 mg/day NAC. In higher doses expectoration difficulties appeared again. Five patients received a maintenance dose 200 mg/day as a result of which their expectoration improved. MDA in the above patients was 3.3 times higher than normal level, free calcium ion concentration was 1.7 times higher. Only 1200 mg/day dose of NAC brought MDA level to normal, higher doses made it subnormal. Calcium ions concentration decreased but insignificantly. Maintenance dose 200 mg/day returned MDA and calcium to initial level. CONCLUSION: For patients with radiation-induced affection of the respiratory tracts NAC dose 1200 mg/day is optimal both clinically and in terms of antioxidant activity.


Asunto(s)
Acetilcisteína/uso terapéutico , Antioxidantes/uso terapéutico , Depuradores de Radicales Libres/uso terapéutico , Enfermedades Pulmonares Obstructivas/tratamiento farmacológico , Liberación de Radiactividad Peligrosa , Acetilcisteína/administración & dosificación , Adulto , Enfermedad Crónica , Relación Dosis-Respuesta a Droga , Depuradores de Radicales Libres/administración & dosificación , Humanos , Masculino , Persona de Mediana Edad , Centrales Eléctricas , Ucrania
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