A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

BACKGROUND: Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS: Two two-generation Turkish families with a total of four members diagnosed with FMF clinically were screened with DNA sequencing performed on exon 2 and exon 10 of the MEFV genes. Then, complete exome sequencing analysis of MEFV gene was done for four patients in whom novel mutation was detected. RESULTS: A novel single base Guanine (G) insertion mutation in the coding region of MEFV gene, named c.2330dupG (p.Gln778Serfs*4 or Q778SfsX4) resulting in a mutated Pyrin/Marenostrin protein was identified. CONCLUSIONS: This is the first report of a new mutation in exon 10 of the MEFV gene in two Turkish families. This novel pattern of insertion mutation may provide important information for further studies on FMF pathogenesis.

Effects of immunosuppressive drugs on oral mucosa in patients with Behçet's disease: cytomorphological and cytopathological assessment.

BACKGROUND/AIM: The aim of this study was to investigate cytomorphological and cytopathological changes in oral exfoliated smears collected from immunosuppressed patients with Behçet's disease (BD) using stereological methods. MATERIALS AND METHODS: For cytomorphometric analysis, mucosal cell smears were obtained from the buccal mucosa and the floor of the mouths of BD patients treated with immunosuppressive drugs and from healthy volunteers. All mucosal smears from the patients and the healthy volunteers were stained using the Papanicolaou method and examined cytopathologically under light microscopy and cytomorphologically via the stereological nucleator method. RESULTS: The cytomorphological analysis revealed 3 types of mucosal cells, with numbers of particularly pink cells lower in the aphthous areas of the patients with BD compared to the healthy controls (P < 0.05). The nuclear volumes (NVs) and cytoplasmic volume (CVs) were significantly higher in the BD patients (P < 0.05), but the NV/CV ratio was higher only in the drug-use patient groups (P > 0.05). There was lower apoptotic activity in the nondrug-use patients with BD and in the immunosuppressive-taking BD patients. CONCLUSION: The findings suggest that quantifiably morphological and morphometric changes in oral mucosa can be detected by stereological techniques. Changes in these parameters may indicate malignant transformation in the oral mucosa.

The association of human leukocyte antigen polymorphisms with disease severity and latency period in patients with silicosis.

BACKGROUND: Denim sandblasting may cause silicosis as a result of free crystalline silica inhalation. Its pathogenesis remains unclear, but autoimmunity may play a role in the development of silicosis. The present study aimed to investigate the relationships between human leukocyte antigen (HLA) and the severity and latency period of silicosis. METHODS: 48 silicotic patients in the Eastern part of Turkey were classified according to their latency period and disease severity. The distribution of HLAs according to disease severity and latency period was assessed. RESULTS: A23 (7.5%), B49 (7.5%), and B51 (25%) were more common in the mild group than in the severe group, and B55 (8.9%) and DR4 (17.9%) were more common in the severe group than in the mild one. Only B51 was significantly more common in the mild group than in the severe one (25%, n = 10 vs. 7.1%, n = 4; p = 0.016). CONCLUSIONS: This study suggests that HLA antigens may play a particular role in the severity of silica-induced lung disease, but there was no association between HLA and progression time of the disease.

HLA B27 subtype distribution among patients with ankylosing spondylitis in eastern Turkey.

Human leukocyte antigen (HLA) B27 has a strong association with ankylosing spondylitis (AS) and other spondyloarthropathies. More than 70 subtypes of HLA B27 have been described. The present study investigated B27 subtype distribution among B27-positive patients with AS classified according to the modified New York criteria and healthy controls. Sequence-specific primer polymerase chain reaction technique was used for B27 subtyping of 43 unrelated patients with AS and 39 volunteer bone marrow donors. Among patients with AS, the male-female ratio was 6.2 and the mean age was 30 years. No relationship was found between the B27 subtypes and clinical and laboratory findings in patients with AS (p>0.05). Similarly, the frequencies of B27 subtypes did not significantly differ between patients and controls. In this study, B*2746, B*2749, and B*2767 subtypes were detected for the first time. Among B27 subtypes, the most common B27 alleles found in the patients and the controls were B*2702 and B*2705. In addition, B*2702 subtype was found predominantly in both patients (48.8%) and controls (46.2%). In conclusion, in addition to commonly encountered B*2702 and B*2705 HLA subtypes, a B*2749 subtype in a patient with AS and B*2746 as well as B*2767 subtypes in controls were determined for the first time.