MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.

ABSTRACT.Purpose: To investigate genetic prothrombotic factors (factor V Leiden and prothrombin gene G20210A mutations) and their relation with retinal vascular occlusions in ocular Behc¸et disease. Methods: Thirty Behc¸et patients were prospectively recruited into the study. Their mean age was 34.2 AE 8.3 years. All patients underwent complete ophthalmic examination and fluorescein angiography. Of the 30 patients, 15 (16 eyes) had retinal vascular occlusion. Patients were tested for the presence of factor V Leiden and prothrombin gene G20210A mutations by polymerase chain reaction. The results were compared with the frequencies of factor V Leiden in 285 and prothrombin gene G20210A mutation in 182 healthy members of the Turkish population. Results: The prevalence of factor V Leiden mutation was significantly higher in ocular Behc¸et patients (12/30, 40%), compared with healthy control subjects (28/285, 9.8%) (p < 0.001). Of the 12 Behc¸et patients with factor V Leiden mutation, eight had retinal vascular occlusion. The prevalence of factor V Leiden was 53.3% (8/15) of the 15 patients with retinal vascular occlusion and 26.7% (4/15) of the remaining 15 patients without vascular occlusion. Prothrombin gene mutation was detected in none of Behc¸et patients compared with 2.7% (5/182) of the control group. Conclusion: These data suggest that factor V Leiden may be an additional risk factor in ocular Behc¸et disease, whereas factor II mutations do not seem to be relevant.

Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the last exon. Up to date, 152 mutations and polymorpisms have been reported inwhere V726A, M694V, M694I, M680I and E148Q are the most common mutations. In this study, MEFV allele frequencies of 136 individuals (60 from Pediatry, 76 from Internal Medicine) have been evaluated, and compared with each other. Asymptomatic individuals with FMF family history (4 from Pediatry, 6 from Internal Medicine) were excluded from the analysis. The prominent mutations indicated in the Pediatry group are V726A, M694V and M680I (G/C) and with the allele frequency of 0.06, 0.05 and 0.04 respectively while they were E148Q, M694V, M680I (G/C) in the Internal Medicine group with the allele frequency of 0.12, 0.08 and 0.04. The E148Q mutation is significantly overrepresented in the adult referrals (P = 0.02). Mutation on both alleles was observed in only 12% of cases. Overall mutation frequency was low, seen in 26.2% (66/252). However, when only diagnosed patients were analyzed it is 72.7% (16/22). It is also interesting that 63% of individuals are female that there may be sex influence on FMF phenotype.

No abstract

Quercetin, a powerful antioxidant bioflavonoid, attenuates renal dysfunction in long-term experimental diabetes mellitus Güçlü bir antioksidan bioflavonoid olan quercetin uzun süreli deneysel diabetes mellitustaki böbrek fonksiyon bozukluğunu azaltır