نتایج جستجو برای: mediterranean mutation
تعداد نتایج: 329041 فیلتر نتایج به سال:
Introduction Data on the epidemiology of familial Mediterranean fever (FMF) and the prevalence of disease causing mutations among different ethnic groups and geographical regions around the world are insufficient. The prevalence of mutations that account for FMF in Turkey has been defined in the past by determining the frequency of MEFV mutations in affected individuals or in hospital-based con...
We report the genome sequence of Mycobacterium tuberculosis INS-MDR from Peru, a multidrug-resistant tuberculosis (MDR-TB) and Latin American-Mediterranean (LAM) lineage strain. Our analysis showed mutations related to drug resistance in the rpoB (D516V), katG (S315T), kasA (G269S), and pncA (Q10R) genes. Our evidence suggests that INS-MDR may be a clonal expansion related to the African strain...
Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is not very strong, indicating the presence o...
Introduction FMF is a monogenic autoinflammatory disease with recurring episodes of fever and serositis attacks. FMF is associated with mutations in pyrin. On the other hand mutations in a molecule in the same pathway, cryopyrin, is characterized by inflammatory features involving the inner ear as well. A study has suggested the involvement of cochlea in Behçet disease, which is a polygenic aut...
Results Among 317 patients; 18 (7 females, 11 males) were enrolled. Consanguinity and family history of FMF were present in 28% and 56% of the patients, respectively. Clinical features seemed to be similar to general FMF patients; however, 50% of the patients were fussy children. The diagnosis of FMF was significantly delayed; the mean age at onset of therapy was 65.44 + 43.75 months. 38% of th...
OBJECTIVE The purpose of the present study was to analyse the evolution of the Spanish population's global and regional adherence to the Mediterranean diet (MD) since 1987. DESIGN A cross-sectional study was conducted analysing food consumption from the Spanish Household Consumption Surveys administered by the Spanish Ministry of Agriculture, Fisheries and Food. SETTING The Mediterranean Ad...
The aim of this study is the investigation of one mutation carriers of MEFV gene among Armenian population. We designed and established the genetic register for proper collection of patients’ data including their ethnicity, clinical and laboratory data, as well as family cases. According to the results the frequency of FMF inheritance with only one mutation of MEFV gene among Armenian populatio...
OBJECTIVES Modified adult disease severity scoring systems are being used for childhood FMF. We aim to test the clinical consistency of two common severity scoring systems and to evaluate the correlation of scores with the type of FMF mutations in paediatric FMF patients since certain mutations are prone to severe disease. METHODS Two hundred and fifty-eight children with FMF were cross-secti...
Methods In this observational comparative study, 47 sequential genetic negative FMF patients and 78 sequential genetic positive (for at least one allele) FMF control patients were compared using a comprehensive questionnaire completed at the time of their routine clinic visit, using direct questioning and patients’ files. The definition of FMF was based on our clinical tool, widely accepted for...
BACKGROUND To demonstrate and clinically, genetically and demographically characterize familial Mediterranean fever (FMF) patients, maintaining remission despite colchicine abstinence. METHODS FMF patients were screened for an endurance of prolonged remission (≥ 3 years), despite refraining from colchicine. Clinical, demographic and genetic parameters were collected. Data were compared with t...
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