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1.
Cell Mol Biol (Noisy-le-grand) ; 63(3): 26-28, 2017 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-28466819

RESUMO

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease affecting people of Mediterranean ancestry. The disease is caused by mutations in the MEFV gene located on chromosome 16p13.3. The aim of this pilot study was to assess global gene expression and identify genes and pathways involved in FMF that could be downstream to MEFV mutations or could be novel involved. EDTA blood samples were collected from 14 patients showing FMF-like symptoms and age-matched to 7 controls showing healthy conditions. Microarray was used to assess global gene expression and identify genes and pathways involved in FMF. When we compared individuals with MEFV mutations (homozygous and heterozygous) to control group, probe sets of receptor proteins HLA-DQA1 and HLA-DQB1 were significantly over expressed by 5 folds  among the patients group. Despite its limitations, this pilot study could strongly suggest that the role of HLA be investigated in the pathogenesis of MEFV mutation and as a potential moderator explaining penetrance and variation in symptoms among patient groups.


Assuntos
Febre Familiar do Mediterrâneo/genética , Regulação da Expressão Gênica , Predisposição Genética para Doença , Análise de Sequência com Séries de Oligonucleotídeos , Pressão Sanguínea/genética , Febre Familiar do Mediterrâneo/fisiopatologia , Feminino , Cadeias alfa de HLA-DQ/genética , Cadeias beta de HLA-DQ/genética , Humanos , Masculino , Projetos Piloto
2.
Infection ; 40(1): 1-10, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22237470

RESUMO

PURPOSE: Investigation of the injecting drug users (IDUs) population is becoming extremely critical and timely in light of the recent evidence that IDUs now act as the core of hepatitis C virus (HCV) epidemics in developed countries. The purpose of this article, therefore, is not only to review the epidemiology of HCV in the Middle East and North Africa (MENA) region, but also to see whether IDUs were adequately studied and whether harm reduction strategies to be applied for their protection have been set. METHODS: A literature review was carried out of articles published within the last decade on HCV infection. RESULTS: The gathered data showed that the population of IDUs is severely under-investigated throughout the whole region, possibly due to religious and cultural impediments. CONCLUSION: In order to reduce the risk of HCV infection in IDUs, a set of recommendations are advanced emphasizing the urgent need for bio-behavioral studies in this population in order to help identify the source and mode of transmission and the genotypes of HCV involved. These results may allow the development of effective and, yet, socially acceptable intervention strategies. We believe that the role which IDUs play in sustaining HCV infection is also an under-investigated topic in many developing countries. Similar reviews and, hence, interventions should be initiated in these regions.


Assuntos
Guias como Assunto , Hepatite C/complicações , Hepatite C/epidemiologia , Abuso de Substâncias por Via Intravenosa/complicações , Abuso de Substâncias por Via Intravenosa/epidemiologia , África do Norte/epidemiologia , Usuários de Drogas , Feminino , Redução do Dano , Hepacivirus/classificação , Hepacivirus/genética , Hepatite C/transmissão , Hepatite C/virologia , Humanos , Masculino , Oriente Médio/epidemiologia , Prevalência , Abuso de Substâncias por Via Intravenosa/virologia
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