Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.

The aim of this study was to make a volumetric comparison of some medial temporal lobe structures and neuropeptides between the patients of Alzheimer’s disease (AD) and healthy individuals. The stu...

IntroductionAutoverification (AV) is a postanalytical tool that uses algorithms to validate test results according to specified criteria. The Clinical and Laboratory Standard Institute (CLSI) document for AV of clinical laboratory test result (AUTO-10A) includes recommendations for laboratories needing guidance on implementation of AV algorithms. The aim was to design and validate the AV algorithm for biochemical tests. Materials and methodsCriteria were defined according to AUTO-10A. Three different approaches for algorithm were used as result limit checks, which are reference range, reference range ± total allowable error, and 2nd and 98th percentile values. To validate the algorithm, 720 cases in middleware were tested. For actual cases, 3,188,095 results and 194,520 reports in laboratory information system (LIS) were evaluated using the AV system. Cohen’s kappa (κ) was calculated to determine the degree of agreement between seven independent reviewers and the AV system. ResultsThe AV passing rate was found between 77% and 85%. The highest rates of AV were in alanine transaminase (ALT), direct bilirubin (DBIL), and magnesium (Mg), which all had AV rates exceeding 85%. The most common reason for non-validated results was the result limit check (41%). A total of 328 reports evaluated by reviewers were compared to AV system. The statistical analysis resulted in a κ value between 0.39 and 0.63 (P < 0.001) and an agreement rate between 79% and 88%. ConclusionsOur improved model can help laboratories design, build, and validate AV systems and be used as starting point for different test groups.

Introduction: Bone morphogenetic protein-7 (BMP-7) is a key protein in organogenesis and liver development. The protein has been studied in the context of liver fibrosis and regeneration. The aim of the present study was to explore any possible association between fibrosis levels (as revealed by liver biopsy) and serum BMP-7 levels. Methodology: A total of 189 patients with chronic hepatitis B and 51 healthy controls were enrolled in the study. Results: The study group contained 120 (63.5%) males and 69 (36.5%) females, and the control group contained 25 males (49.0%) and 26 females (51%). In general, serum BMP-7 values of patients were higher than those of controls (p = 0.001). Serum BMP-7 values of patients with liver fibrosis of stages 1, 2, 3, or 4 were higher than control values (all p values = 0.01), but the serum BMP-7 levels of patients with stage 5 fibrosis were similar to that of controls. Associations between fibrosis stage and the serum levels of BMP-7, ALT, HBVDNA, platelets, and albumin were all statistically significant (p = 0.001). The AUROC for the BMP-7 level in advanced stage fibrosis was found to be 0.23. The data were analyzed using the binary logistic regression analysis (backward stepwise method) and BMP-7, HBVDNA, and platelet levels were found to be risk factors associated with fibrosis (p values 0.031, 0.040, and 0.001, respectively). Conclusions: BMP-7 may play anti-inflammatory and anti-fibrogenic roles in the pathogenesis of chronic hepatitis B infection.

Background. Diabetes mellitus (DM) has become more and more common and has a high morbidity and mortality rate worldwide. It is a multifactorial chronic disease affected by both genetic and environmental factors. Objectives. To evaluate the association between antioxidant enzyme activities and their genetic variations and the level of malondialdehyde (MDA) in type II diabetes patients living in the Adlyaman province in the southeast part of Turkey. Material and methods. One hundred patients diagnosed with type II DM (T2DM) and 100 healthy controls were included in the study. Malondialdehyde levels and antioxidant enzyme activities were measured spectrophometrically. DNA isolation was performed and genotyping was carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results. Our results revealed no significant differences in genotype distributions and allele frequencies of all polymorphisms between groups (p > 0.05). Significantly elevated MDA levels and a significant reduction in catalase (CAT) and paraoxonase (PON) enzyme activities were observed in patients compared to the control group in terms of study groups and genetic variations (p < 0.05). Moreover, CAT activity was reduced in TT genotype in terms of CAT -262 C/T polymorphism in patients (p < 0.05). Paraoxonase activity was observed to be lower in MM genotype in both groups (p < 0.05). Conclusions. CAT-262 C/T polymorphism may be one of the factors that lead to severe clinical situation in DM. Our results suggest that TT genotype may be more prone to lipid peroxidation.