Title |
MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study
|
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Published in |
Pediatric Rheumatology, January 2014
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DOI | 10.1186/1546-0096-12-5 |
Pubmed ID | |
Authors |
Samia Salah, Ranya Hegazy, Rasha Ammar, Hala Sheba, Lobna AbdelRahman |
Abstract |
Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease may carry a potential for cardiovascular disorders because of sustained inflammation during its course, the spectrum of cardiac involvement in children with FMF has not been well studied. We aimed at defining the frequency and spectrum of cardiac affection in children with FMF. The correlation between these affections and MEFV gene mutations was searched for to establish the relationship between cardiac phenotype and the patient's genotype in FMF. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | 3% |
Qatar | 1 | 3% |
Unknown | 37 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 21% |
Student > Master | 8 | 21% |
Other | 5 | 13% |
Researcher | 4 | 10% |
Unspecified | 2 | 5% |
Other | 7 | 18% |
Unknown | 5 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 14 | 36% |
Biochemistry, Genetics and Molecular Biology | 8 | 21% |
Unspecified | 2 | 5% |
Social Sciences | 2 | 5% |
Sports and Recreations | 2 | 5% |
Other | 5 | 13% |
Unknown | 6 | 15% |