scholarly journals Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

2018 ◽  
pp. 23-28
Author(s):  
Fatih Battal ◽  
Hakan Aylanç ◽  
Şule Yıldırım ◽  
Yeliz Ekim ◽  
Fatma Sılan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Choroidal Thickness ◽  
Mediterranean Fever

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

Retinal and Choroidal Thickness in Children with Familial Mediterranean Fever

2015 ◽  
Vol 23 (6) ◽  
pp. 466-466
Author(s):  
Ahmet Tas ◽  
Umit Yolcu ◽  
Abdullah Ilhan ◽  
Fatih C. Gundogan
Keyword(s):  
Familial Mediterranean Fever ◽  
Choroidal Thickness ◽  
Mediterranean Fever

Choroidal Thickness Changes in the Acute Attack Period in Patients with Familial Mediterranean Fever

2015 ◽  
Vol 235 (2) ◽  
pp. 72-77 ◽  
Author(s):  
Fatih C. Gundogan ◽  
Fahrettin Akay ◽  
Salih Uzun ◽  
Gokhan Ozge ◽  
Sami Toyran ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Choroidal Thickness ◽  
Serum Levels ◽  
Acute Attack ◽  
Clinical Findings ◽  
Healthy Controls ◽  
Reactive Protein ◽  
Mediterranean Fever ◽  
Acute Attacks ◽  
Positive Correlations

Purpose: The aim of this study was to evaluate choroidal thickness changes during acute attacks of familial Mediterranean fever (FMF). Methods: Fifty patients with FMF and 50 healthy controls were included. Choroidal thickness of each participant was measured at the foveola and horizontal nasal and temporal quadrants at 500-µm intervals to 1,500 µm from the foveola using spectral-domain optical coherence tomography. White blood cell count, erythrocyte sedimentation rate (ESR) and serum levels of fibrinogen and C-reactive protein (CRP) were evaluated. The clinical findings (peritonitis, arthritis and pleuritis) were noted. Results: Choroidal thickness was significantly thicker at all measurement points in FMF patients compared to healthy controls during an acute attack (p < 0.05). There were positive correlations between the choroidal thickness and ESR, fibrinogen and, particularly, CRP levels. Clinical findings did not change the choroidal thickness significantly (p > 0.05). Conclusions: Increased choroidal thickness in the acute phase of FMF is possibly related to the inflammatory edematous changes in the choroid.

Familial Mediterranean Fever and E148Q Pyrin Gene Mutation in Greece

2005 ◽  
Vol 81 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Kostas Konstantopoulos ◽  
Alexandra Kanta ◽  
Konstantinos Lilakos ◽  
George Papanikolaou ◽  
Ioannis Meletis
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Mediterranean Fever

Retinal and Choroidal Thickness in Children with Familial Mediterranean Fever

2014 ◽  
Vol 22 (6) ◽  
pp. 444-448 ◽  
Author(s):  
Mesut Erdurmuş ◽  
Mervan Bekdaş ◽  
Fatih Demircioğlu ◽  
Adem Soydan ◽  
Sevil Bilir Göksügür ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Choroidal Thickness ◽  
Mediterranean Fever
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