Management of a rare case of arrhythmogenic right ventricular dysplasia in pregnancy: a case report

<p>Abstract</p> <p>Introduction</p> <p>Arrhythmogenic right ventricular dysplasia is a heritable disease of the heart muscle characterized by fibrofatty degeneration of cardiomyocytes. Patients present with ventricular arrhythmias or congestive heart failure, and sometimes sudden cardiac death occurs. Prenatal diagnosis has become possible with the detection of mutations, but, to the best of our knowledge, no case of prenatal diagnosis has been reported previously. There is little information about the management of arrhythmogenic right ventricular dysplasia in pregnancy, and the preferred mode of delivery is not certain; therefore, we present the case of a patient with arrhythmogenic right ventricular dysplasia and discuss the prenatal diagnosis, patient management and prognosis in pregnancy.</p> <p>Case presentation</p> <p>A 26-year-old Caucasian woman who presented to our hospital with heart palpitations was diagnosed with arrhythmogenic right ventricular dysplasia, and, after three years of follow up with anti-arrhythmic drugs, she wanted to conceive. During pregnancy, she ceased taking her medication. She tolerated pregnancy very well but her cardiac symptoms recurred after her 30th week of pregnancy. She delivered a baby via cesarean section under general anesthesia in her 38th week of pregnancy. She was discharged without any medications and continued lactation for six months.</p> <p>Conclusion</p> <p>Patients with mild to moderate arrhythmogenic right ventricular dysplasia tolerate pregnancy and breastfeeding very well, but patients with end-stage arrhythmogenic right ventricular dysplasia should be discouraged from conception.</p

Lipoprotein lipase gene PvuII polymorphism serum lipids and risk for coronary artery disease: Meta-analysis

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Our aim was to determine whether lipoprotein lipase gene PvuII polymorphism can be considered as an independent risk factor for coronary artery disease (CAD) by conducting a meta-analysis of all available published trials, including our own study. In 7 seperate studies, 3289 subjects were screened for this substitution; meta-analysis included only some of these individuals. Among the 7 studies, 6 were performed on white subjects, whereas 1 was on patients with Saudi Arabic descent.Subgroup analysis indicated that individuals with PvuII substitution does not have an increased risk for CAD. The LPL-PvuII genotype and allele frequency distributions did not differ significantly between CAD patients and healthy controls. There was no difference in the distribution of LPL-PvuII genotypes between the healthy subjects and the patients with CAD. However, no significant differences in lipid variables (triglyceride and HDL-cholesterol) were determined for the PvuII polymorphisms in the patients with CAD. No significant differences were found in serum triglyceride and HDL-cholesterol levels for LPL-PvuII genotypes when the control and CAD groups were pooled. In conclusion, LPL-Pvu II polymorphism cannot be used as independent genetic risk factor for CAD

Lack of association between endothelial nitric oxide synthase glu298Asp variation, visceral obesity and insulin related phenotypes in Turkish type 2 diabetic patients.

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Nitric oxide (NO) is an endothelium derived relaxing factor(EDRF) important in regulating heart-vessel physiology. Theobjective of this study was to investigate whether the eNOSgene Glu298Asp variation influenced the lipid parameters,visceral obesity, insulin related phenotypes and type 2 diabetesmellitus (T2DM) development, for the first time in a Turkishstudy group. We analyzed the the eNOS gene Glu298Aspgenotype frequencies in 115 type 2 diabetic and 68 healthycontrol subjects. Serum lipids and insulin-related phenotypeswere also analyzed. No significant difference for genotypicfrequencies was observed for the Ban II (Eco241) restrictionsite in T2DM patients as compared to controls. eNOSGlu298Asp polymorphism was not found to affect visceralobesity and insulin related phenotypes. However, T2DM patientswith Asp/Asp genotype were found to have lower hepaticinsulin sensitivity (HIS) in comparison to Glu/Glu. Inhealthy controls, the insulin and HOMA levels were foundto be lower in Glu/Asp genotype with respect to Glu/Glugenotype carriers (p>0.05). In T2DM patients, visceral obesitywas observed in higher frequencies with Asp/Asp genotype,in comparison to Glu/Glu genotype. eNOS Glu298Asppolymorphism was not found to affect serum lipid levels inthe T2DM group. However in the control group, lower serumapoB levels were observed in Asp/Asp genotype carriers incomparison to Glu/Glu genotype (p ≤ 0.05). The eNOS geneGlu298Asp polymorphism was not found to be associatedwith T2DM in the present study group. Although not significant,since the eNOS Glu298Asp genotypes were found tobe related to HIS, insulin, HOMA and visceral obesity in thepresent study, further studies on larger samples are needed toexplore the exact role of eNOS Glu298Asp polymorphism ininsulin related phenotypes and visceral obesity

Investigation of Ras-related nuclear protein gene expression in obesity in relation with adipogenesis

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Marmara Üniversitesi, Fen Edebiyat Fakültesi, Biyoloji BölümüAmaç: Bu çalışmada Ras ile ilişkili nükleer protein (RAN)’in; farklı gelişim evrelerindeki adipositlere, farklı dozlarda uygulanacak olan oksidatif stres faktörlerine (stearik asit, linoleik asit, etanol ve hidrojen peroksit) karşı yanıt olarak gen anlatımının ne yönde değişim göstereceği ile birlikte hücrelerin proliferasyon yeteneklerine olan etkileri araştırıldı. Gereç ve yöntemler: Çalışmada RAN geninin obezitedeki rolünü belirlemek amacıyla fare kökenli 3T3-L1 fibroblast hücreleri, iCELLigence sistemi ile gerçek zamanlı olarak gözlemlenerek, preadiposit ve olgun adipositlere farklılaştırıldı. Bu hücreler farklı konsantrasyonlarda sitotoksik ajanlara maruz bırakıldı ve hücre proliferasyonları yine iCELLigence sistemi ile izlendi. Elde edilen hücrelerden haberci RNA izolasyonu, haberci RNA’dan tamamlayıcı DNA sentezi ve elde edilen genetik materyalde sitotoksik ajanlara yanıt olarak, RAN geninin ekspresyonundaki değişimler TaqMan gerçek zamanlı polimeraz zincir reaksiyonu ile tespit edildi.Objectives: This study aims to investigate how the gene expression of Ras-related nuclear protein (RAN) will change as a response to the adipocytes in different stages of development, oxidative stress markers (stearic acid, linoleic acid, ethanol and hydrogen peroxide) to be applied in different dosages and also its effects on the proliferation ability of cells. Materials and methods: In our study, to determine the role of the RAN gene in obesity, we differentiated mouse-derived 3T3-L1 fibroblast cells into preadipocytes and mature adipocytes by observing with iCELLigence system in real-time. These cells were exposed to cytotoxic markers at different concentrations and cell proliferations were monitored with iCELLgence system. The messenger RNA isolation from the obtained cells, complementary DNA synthesis from messenger RNA and the changes of RAN gene expression in response to cytotoxic markers obtained from the genetic material were identified by TaqMan real-time polimerase chain reaction

Koroner aterosklerozu yükü ile asimetrik dimetilarjinin, karotis intima medya kalınlığı ve endotel fonksiyonu arasındaki ilişki.

İstanbul Bilim Üniversitesi, Tıp Fakültesi.Objectives: Detection of extent and severity of atherosclerosis using easy, non-invasive methods is of great importance. Atherosclerotic burden may be evaluated with the Gensini scoring system (GSS). Carotis intima media thickness (CIMT), plasma asymmetric dimethyl arginine (ADMA) level, and endothelial dysfunction are well known surrogate markers of atherosclerosis. The aim of this study was to evaluate the relationship between atherosclerotic burden determined by the GSS, and ADMA, CIMT and endothelial function. Study Design: Consecutive patients who had undergone coronary angiography were evaluated. 50 patients with acute coronary syndrome (ACS), 50 patients with stable coronary artery disease (SCA), and 50 patients with normal coronary arteries (NCA) were included. All subjects' GSS, ADMA, CIMT and endothelial functions were evaluated and compared.Amaç: Aterosklerozun şiddetinin ve yaygınlığının basit ve invaziv olmayan yöntemlerle tespiti oldukça önemlidir. Ateroskleroz yükü Gensini skor sistemi (GSS) kullanılarak belirlenebilmektedir. Karotis intima medya kalınlığı (KİMK), plazma asimetrik dimetilarjinin (ADMA) seviyesi ve endotel fonksiyon bozukluğu aterosklerozun iyi bilinen belirteçleridir. Bu çalışmanın amacı GSS ile tespit edilen ateroskleroz yükü ile ADMA, KİMK ve endotel fonksiyon bozukluğu arasındaki ilişkiyi incelemektir. Çalışma planı: Koroner anjiyografi yapılmış olan ardışık hastalar değerlendirildi. Akut koroner sendromlu (AKS) 50 hasta, stabil koroner arter (SKA) hastalığı olan 50 ve koroner arterleri normal (NKA) 50 olgu çalışmaya alındı. Çalışmaya alınan tüm olguların GSS, ADMA, KİMK ve endotel fonksiyonları ölçüldü ve karşılaştırıldı