RESUMO
In order to investigate the incidence of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and unclassified variants in chronic pulmonary disease in children and adults, we studied 20 patients with asthma, 19 with disseminated bronchiectasis (DB) of unknown aetiology, and 12 patients with chronic obstructive pulmonary disease (COPD), and compared the results to 52 subjects from the general Greek population. Analysis of the whole coding region of the CFTR gene and its flanking intronic regions revealed that the proportion of CFTR mutations was 45% in asthma (P<0.05), 26.3% in DB (P>0.05), 16.7% in COPD (P>0.05), compared to 15.4% in the general population. Seventeen different molecular defects involved in disease predisposition were identified in 16 patients. Three potentially disease-causing mutations, T388 M, M1R and V11I, are novel, found so far only in three asthma patients. The hyperactive M470 allele was found more frequently in COPD patients (frequency 70.8%, P<0.01) than in the controls. The study of the TGmTnM470 V polyvariant CFTR allele revealed the presence of CFTR function-modulating haplotypes TG13/T5/M470, TG11/T5/M470, TG12/T5/V470 and TG12/T7, combined with M470 or V470, in six asthma patients, four DB patients (P<0.01), and two COPD patients (P<0.05). These results confirm the involvement of the CFTR gene in asthma, DB and possibly in COPD.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Mutação , Adolescente , Adulto , Idoso , Asma/genética , Bronquiectasia/genética , Criança , Pré-Escolar , DNA/química , DNA/genética , Análise Mutacional de DNA , Haplótipos , Humanos , Lactente , Pneumopatias Obstrutivas/genética , Pessoa de Meia-Idade , Mutação Puntual , Polimorfismo GenéticoRESUMO
An indirect fluorescent antibody test for Bartonella henselae, B quintana, and B elizabethae was performed in all 18 children who presented to our paediatric outpatient clinic with cat scratch disease over a six year period. Serum samples were taken on admission, after 15 days, and after six months. Diagnosis was confirmed in 15 patients (83%) and was based on seroconversion or a fourfold change of the antibody titre to B henselae in 12 patients and on a single high titre (> 128) in three patients. Lymphadenopathy was present in all patients, erythema nodosum in one, osteomyelitis in one, hepatitis in one, transverse myelitis in one, and liver or spleen granulomata, or both, in three patients. Cat scratch disease developed in autumn or winter in 12 patients. All had a history of physical contact with a cat. Our study shows that our clinical suspicion was accurate in the diagnosis of cat scratch disease in a high percentage of patients presenting to a hospital and that indirect fluorescent antibody testing for B henselae is a useful diagnostic tool.
Assuntos
Bartonella henselae , Doença da Arranhadura de Gato/diagnóstico , Adolescente , Anticorpos Antibacterianos/sangue , Bartonella/imunologia , Bartonella henselae/imunologia , Bartonella quintana/imunologia , Doença da Arranhadura de Gato/complicações , Criança , Pré-Escolar , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Humanos , Doenças Linfáticas/microbiologia , Masculino , Estudos ProspectivosRESUMO
Thirty nine children with 71 hydatid cysts were given mebendazole orally in a dose of 100-200 mg/kg/day for 12 weeks and were followed up for a mean (SD) of 63 (24) months. Twenty children (three of them after a second course) were cured and another two avoided at least one operation. No serious side effects of the drug were observed.
