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Hepatitis B virus (HBV) is still a significant health problem in human. HBV severity or sensitivity of patients may be based on the individual genetic factors significantly. The aim of this study is to investigate the association of CCR5 (CCR5Δ32), TLR3 (rs5743313) functional gene polymorphisms, interferon-gamma (IFN-ɣ) level in HBV infection, which are thought to play an important role in innate and acquired immunity in patients who have undergone HBV seroconversion and those who have chronic hepatitis B disease and receive treatment. One hundred patients who are became naturally immune against HBV infection (HBsAg negative, anti-HBc IgG, and anti-HBs IgG positive), and 100 patients with chronic hepatitis B infection (6 months HBsAg positive) who are receiving oral antiviral therapy were compared for CCR5Δ32, TLR3 (rs5743313) genotypes and serum IFN-ɣ level. It was found that CCR5Δ32 polymorphism (Wt/Δ32 and Δ32/Δ32) was significantly higher in the chronic hepatitis B group (p = 0.048) but not for TLR3 gene polymorphism. However, serum IFN-ɣ level was significantly higher in the HBV seroconversion group (75 ± 89 ng/ml) than in the chronic hepatitis B group (4.35 ± 17.27 ng/ml) (p 0.001). In conclusion, a higher CCR5Δ32 allele frequency in patients with chronic hepatitis B might be considered as a marker of progression to chronic hepatitis.

BACKGROUND The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. METHODS We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. RESULTS Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 ± 4.3 and 9.2 ± 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p =

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

Aim: While epithelial-mesenchymal transition (EMT) is associated with the complex morphogenetic events during embryogenesis, EMT has also been shown to play an important role in the progression of epithelial cancers. There have been few studies examining ZEB1 and SMAD protein expressions in skin tumor tissues in the literature, and there are no studies evaluating GIT1 protein expression.Materials and Methods: Thirty-seven pieces of squamous cell carcinoma(SCC), 34 pieces of basal cell carcinoma(BCC), 11 pieces of actinic keratosis(AK), 9 pieces of in situ SCC(SCCIS) and 7 pieces of normal skin tissue were included in this study.Results: A statistically significant difference was found between the SMAD1, AREB6 and GIT1 H-scores values of the individuals in the five groups. The levels of SMAD1, AREB6 and GIT1 were higher in SCC than in the control group. In binary comparisons, the SMAD1 H-score values of BCC, SCCIS groups were statistically significantly higher than normal skin. GIT1 H-score values of SCC and BCC groups were significantly higher than normal skin.Conclusion: In skin tumors, EMT is an ever-active mechanism. It is thought that this mechanism is highly controlled in SCC, a more aggressive type of cancer, than in BCC. These results suggest that the investigation of genes related to SMAD1, AREB6 and GIT1 may be useful for research into new molecular targets for the treatment and prevention of metastasis in nonmelanotic skin tumors.

WOS: 000332000400025 PubMed: 24381109 In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to KA +/- rA +/- kkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8 %), E148Q (7.1 %) and M680I(G/C) (4.1 %) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7 %) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.

In disorders of sexual differentiation, sexual development may not be in accordance with chromosomal structure. 46,XX male syndrome is one of these kind of situations of which most of the patients are in normal male phenotype at birth. These patients are diagnosed while investigating for gynecomastia during puberty or infertility at older ages. One of the comorbidities of testosterone deficiency is metabolic syndrome. Recent studies have demonstrated a strong relationship between hypogonadism and metabolic syndrome. A 42-year-old male patient was admitted to our outpatient clinic with the complaint of gynecomastia. Based on laboratory tests results, he was diagnosed with hypergonadotropic hypogonadism accompanied by metabolic syndrome. Chromosomal analysis showed 46,XX SRY (+) genotype. Turk Jem 2014; 1: 28-30