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1.
Allergol. immunopatol ; 47(2): 159-165, mar.-abr. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-180804

RESUMO

Introduction and Objectives: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them. The aim of this study was to perform a comparative analysis of the genotype and allele frequency distributions of the biallelic marker M470V within the CFTR gene on mutant and wide chromosomes. Patients and methods: The molecular approach consists in the genotyping of the M470V marker by the PCR-RFLP technique in 105 asthmatic patients, aged between four months and 17 years, and 105 healthy subjects. Results: We found a significant difference in the genotype frequencies between the two studied groups (chi2 = 9.855, P = 0.007). The V/V genotype was over represented in the asthmatic group as compared to the controls (32.38% vs. 16.19%). Whereas, the M/V genotype is more frequent in healthy subjects (40.95% vs. 28.71%). We also noted a significant difference in allelic distribution of M470V with associated diseases (chi2 = 9.610, P = 0.022). Conclusions: The present study is the first report on the distribution of the M470V polymorphism in asthmatic Tunisian patients. We noticed that the M470V variant could modulate the clinical phenotype of asthmatic patients. This preliminary study will establish the molecular basis of this disease in Tunisia


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Assuntos
Humanos , Masculino , Lactente , Pré-Escolar , Criança , Adolescente , Asma/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Genótipo , Mutação/genética , Frequência do Gene , Estudos de Associação Genética , Fenótipo
2.
Artigo em Inglês | MEDLINE | ID: mdl-30268379

RESUMO

INTRODUCTION AND OBJECTIVES: Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them. The aim of this study was to perform a comparative analysis of the genotype and allele frequency distributions of the biallelic marker M470V within the CFTR gene on mutant and wide chromosomes. PATIENTS AND METHODS: The molecular approach consists in the genotyping of the M470V marker by the PCR-RFLP technique in 105 asthmatic patients, aged between four months and 17 years, and 105 healthy subjects. RESULTS: We found a significant difference in the genotype frequencies between the two studied groups (χ2=9.855, P=0.007). The V/V genotype was over represented in the asthmatic group as compared to the controls (32.38% vs. 16.19%). Whereas, the M/V genotype is more frequent in healthy subjects (40.95% vs. 28.71%). We also noted a significant difference in allelic distribution of M470V with associated diseases (χ2=9.610, P=0.022). CONCLUSIONS: The present study is the first report on the distribution of the M470V polymorphism in asthmatic Tunisian patients. We noticed that the M470V variant could modulate the clinical phenotype of asthmatic patients. This preliminary study will establish the molecular basis of this disease in Tunisia.

3.
Tunis Med ; 82(12): 1091-6, 2004 Dec.
Artigo em Francês | MEDLINE | ID: mdl-15822510

RESUMO

We have carried out a retrospective study on 51 children aged between 2 years 3 months and 13 years in order to determine the findings and to define the indications of neuroimaging modalities in children with a first unprovoked seizure. Children who had neuroimaging studies were divided into two groups based on the results of neuroimaging normal or abnormal. We have compared the two groups according to each clinical and electroencephalographic parameters studied. Neuroimaging abnormalities were found in 47% of cases. According to our results and literature review, we concluded that the imaging should be done if we have at least one of the criteria: an abnormal neurological examination after the seizure and focal slowing waves on the electroencephalogram.


Assuntos
Convulsões/diagnóstico , Adolescente , Fatores Etários , Astrocitoma/complicações , Astrocitoma/diagnóstico , Encéfalo/anormalidades , Encefalopatias/complicações , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Criança , Pré-Escolar , Eletroencefalografia , Emergências , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Meningioma/complicações , Meningioma/diagnóstico , Estudos Retrospectivos , Convulsões/diagnóstico por imagem , Convulsões/etiologia , Fatores Sexuais , Fatores de Tempo , Tomografia Computadorizada por Raios X
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