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Öğe Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy?(Wiley, 2013) Aldemir, Ozgur; Ozen, Samim; Sanlialp, Cigdem; Ceylaner, SerdarIsolated adrenocorticotropic hormone deficiency is a rare cause of adrenocortical insufficiency, especially in children, and may be an underestimated cause of neonatal death. Low estriol levels are usually correlated with compromised uteroplacental perfusion and associated with fetal death. A 30-years old woman applied for pregnancy follow-up. Ultrasonographic evaluation and karyotype of the fetus are normal. Low estriol level 0.34 MoM (% 0.24) was detected in maternal triple screening test. Amniocentesis was performed, and chromosomal disorders, steroid sulfatase deficiency, and Smith-Lemli-Opitz syndrome (SLOS) were excluded with karyotype, fluorescence in situ hybridization (FISH), and molecular analysis of SLOS, respectively. As their first child had pro-opiomelanocortin (POMC) deficiency, POMC gene analysis was performed from both amniotic fluid and ethylene diamine tetra aceticacid (EDTA) blood sample of affected previous child, and homozygote mutation was detected. Fetus is diagnosed as POMC deficiency. We are presenting this case to discuss possible relationship of low maternal E3 levels and fetal POMC deficiency. (c) 2013 John Wiley & Sons, Ltd.Öğe The association between methylation levels of targeted genes and albuminuria in patients with early diabetic kidney disease(Taylor & Francis Ltd, 2017) Aldemir, Ozgur; Turgut, Faruk; Gokce, CumaliObjective: The incidence of diabetes and its complications are greatly increasing world-wide. Diabetic nephropathy (DN) is the main cause of end-stage renal disease and is associated with high morbidity and mortality. It is important to predict patients with high risk for DN in the early stage. We selected the genes which have an important role on diabetic kidney disease. We aimed to investigate the association between DNA methylation levels of targeted genes and albuminuria in patients with early DN. Methods: We collected the clinical data of patients with type 2 diabetes mellitus. We measured spot urine albumin creatinine ratio to calculate albuminuria level. We divided patients into two groups based on albumin excretion as patients with (n = 69) and without DN (n = 27). We performed methylation profiling after bisulfite conversion by pyrosequencing method. The mean value of percent methylation level of each gene was calculated. Results: We compared targeted genes (TIMP-2, AKR1B1, MMP-2, MMP-9, MYL9, SCL2A4, SCL2A1, SCL4A3) methylation levels and albuminuria. We found significant negative correlation between TIMP-2 and AKR1B1 gene methylation levels and albuminuria levels. Conclusions: The present study provided evidence that hypomethylation of TIMP-2 and AKR1B1 genes can be associated with albuminuria in patients with early DN. We may speculate that the hypomethylation of TIMP-2 and AKR1B1 genes may be an early surrogate marker of DN.Öğe Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in psoriasis in southern Turkey(Soc Brasileira Dermatologia, 2016) Izmirli, Muzeyyen; Sen, Bilge Bulbul; Rifaioglu, Eminenur; Gogebakan, Bulent; Aldemir, Ozgur; Sen, Tuba; Ekiz, OzlemBackground: Psoriasis is a multigenic and multifactorial dermatological disease linked to cardiovascular diseases. Increased levels of homocysteine in patients with psoriasis have been demonstrated in many studies. The most frequently investigated genetic defect that plays a role in homocysteine metabolism is single point substitution (C to T) located on the 677th nucleotide of the methylenetetrahydrofolate reductase gene (MTHFR). Objective: In this study, we aimed to investigate methylenetetrahydrofolate C677T polymorphism in psoriasis patients in Turkey. Methods: The study included 96 patients with psoriasis and 77 controls from southern Turkey. Methylenetetrahydrofolate C677T polymorphism was analysed using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism methods. Results: In the psoriasis group, 34 CC (35.4%), 46 CT (47.9%) and 16 TT (16.7%) genotypes were found, respectively; while in the control group, the figures were 39 (50.6%), 35 (45.5%), 3 (3.9%). Homozygote and heterozygote T alleles of methylenetetrahydrofolate C677T polymorphism were significantly higher in the psoriasis than in the control group (p=0.013). Conclusion: We firstly found a correlation between methylenetetrahydrofolate C677T polymorphism and psoriasis among the southern Turkish population.Öğe The Spectrum of ?-Thalassemia Mutations in Hatay, Turkey: Reporting Three New Mutations(Taylor & Francis Ltd, 2014) Aldemir, Ozgur; Izmirli, Muzeyyen; Kaya, Hasanbeta-Thalassemia (beta-thal) is an important health problem in Hatay, Southern Turkey, because of its high carrier frequency and the frequency of consanguinity. The aim of this study was to reveal the spectrum of P-thal mutations and to provide a foundation for prenatal genetic testing that will be a part of an effective prevention program for 13-thal disease in Hatay. We determined the spectrum of 13-thal mutations in 93 unrelated affected patients. Using a direct sequencing method, we identified a large number of beta-thal mutations. We found different results from other parts of Turkey. A total of 16 different 0-thal mutations were characterized in the parents. The most common mutations were: IVS-I-110 (G>A), IVS-I-6 (T>C), IVS-I-1 (G>A), frameshift codon (FSC) 8 (-AA), codon 39 (C>T) and IVS-II-745 (C>G). Since our region has seen many Syrian and Iraqi immigrants, we report that the prevalence of the thalassemia traits are different from other regions of Turkey. Our study demonstrates the spectrum of 1S-thal mutations in the Hatay region, and that there was great molecular heterogeneity.Öğe Unbalanced karyotype with X;11 translocation associated with SHOX duplication and 11q partial deletion in a girl with amenorrhea and mild mental retardation detected by array CGH: Case Report(Elsevier Science Bv, 2016) Aldemir, Ozgur; Aldemir, Rahime; Sahin, Y.; Ustun, Ihsan; Gokce, Cumali[Abstract Not Available]Öğe Urotensin II (U-II), a novel cyclic peptide, possibly associated with the pathophysiology of osteoarthritis(Elsevier Science Inc, 2014) Gogebakan, Bulent; Uruc, Vedat; Ozden, Raif; Duman, Ibrahim Gokhan; Yagiz, Abdullah Erman; Okuyan, Hamza Malik; Aldemir, OzgurSynovial fibrosis is one of the main outcomes of osteoarthritis. Some authors have reported that urotensinII (U-II) may cause pathologic fibrosis in cardiovascular system, lung and liver. However there are no previous reports available in the literature about its relationship with the synovial fibrosis in osteoarthritis. The aim of this study was to compare the U-II levels in knee synovial fluids obtained from osteoarthritic and non-osteoarthritic patients. Two groups were created, the osteoarthritis group and non-osteoarthritic control group. The control group was consisted of patients who underwent arthroscopic surgery for other reasons than cartilage disorders. In the osteoarthritis group all patients had grade 4 primer degenerative osteoarthritis and were treated with total knee arthroplasty. Minimum 1 mL knee synovial fluids were obtained during operation. Levels of U-II were measured by using ELISA kit U-II levels were significantly higher in the osteoarthritic group than that in the control group. No correlation was found between U-II levels and age. In conclusion, the significantly high U-II levels in the knee synovial fluid of osteoarthritic patients supported our hypothesis that U-II may be associated with the synovial fibrosis in osteoarthritis.(c) 2014 Elsevier Inc. All rights reserved.
