Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of a disorder in the (β-globin chains synthesis), and the gold standard method for diagnosis is genetic mutation analysis. It is important to know the distribution of mutations according to regions and races. The aim of this study is to document the mutations in the beta-globin gene of beta-thalassemia major and intermedia patients who were followed and treated in Sanliurfa province, and to examine the relationships between these mutations by defining them according to gender, nationality, consanguineous marriage, history of disease in siblings and blood type.Methods: The files of 272 patients diagnosed with beta-thalassemia major and intermedia followed up in the Pediatric Hematology-Oncology outpatient clinic of Sanliurfa Training and Research Hospital between August 2016 and August 2017 were retrospectively reviewed and mutation analyzes were documented. Coding exons and exon-intron junction regions of beta globin-HBB gene were amplified by PCR method and then DNA sequencing was performed. Gender, nationality, consanguineous marriage, sibling history and blood type information were recorded.Results: Out of 272 patients, 94.1% were thalassemia major and the others were thalassemia intermedia. Approximately one third of the patients (30.1%) were foreign nationals. A total of 27 different mutations in the beta-globin gene were detected. The most common mutation is IVS-I-110 c.93-21 (G gt; A) (23.1%), which is followed by IVS-I-1 c.92 + 1 (G gt; A) (15.8%) and Codon 39 c.118 (C gt; T) (11.5%). One hundred and forty-two individuals (52.2%) had no sibling history, while 103 (37.9%) had one sibling and 27 (9.9%) had two siblings with thalassemia disorder. First-degree, second degree and third degree consanguineous marriages were present in 42.6% (n = 116), 8.1% (n = 22), 11% (n = 30) of parents, respectively.Conclusions: Beta-thalassemia disease is a common hematological condition in Sanliurfa. Approximately one-third of the patients who apply are foreign nationals. Correct identification of beta-globin gene mutations will guide genetic counseling and preventing prenatal disease. This data can contribute to the national thalassemia prevention program in Turkey

Micronuclei frequencies in lymphocytes and cervical cells of women with polycystic ovarian syndrome

Amaç: Bu çalışmanın amacı, polikistik over sendromlu (PKOS) kadınların eksfoliyatif servikal hücrelerinde ve periferik kan lenfositlerinde mikronükleus (MN) frekanslarını belirlemektir.Gereç ve Yöntemler: PKOS'li 15 hasta ve 11 sağlıklı kontrol hastası çalışmaya dahil edildi. Tüm hastalardan servikal smearleri ve periferik kan toplandı. Numuneler, MN frekansları açısından analiz edildi ve gruplar arasında karşılaştırıldı. Hem MN sıklığı, hem de genotoksisite ve sitotoksite bağlı diğer nükleer anomaliler değerlendirildi. Bulgular: Servikal smear ve periferik kan lenfositlerinde MN frekansları PKOS hastaları ve normal kontrollerde karşılaştırıldı. Periferik kan lenfositlerinde MN frekansı açısından gruplar arasında istatistiksel olarak anlamlı fark yoktu (p0,239). PKOS hastalarının eksfoliyatif servikal hücrelerindeki ortalama MN skorları ve normal kontrollerinki sırasıyla 1,190,57 ve 0,740,34 idi. Servikal hücrelerdeki MN frekansları istatistiksel olarak gruplar arasında anlamlıydı (p0,032). Sonuç: Çalışma grubu küçük olmasına rağmen çalışma sonuçlarımız, PKOS hastalarının eksfoliyatif hücrelerinde, hastalıkta genetik tehlikenin belirleyicisi olan MN sıklığının arttığını desteklemektedir.Objective: The aim of this study was to determine micronucleus (MN) frequencies in exfoliated cervical cells and peripheral blood lymphocytes of women with polycystic ovarian syndrome (PCOS).Materials and Methods: Fifteen patients with PCOS and 11 healthy control patients were included in the study. Cervical smears and peripheral blood were collected from all patients. Specimens were analyzed for MN frequencies and compared between the groups. In addition to MN, other nuclear anomalies connected with both genotoxicity and cytotoxicity were evaluated.Results: The MN frequencies in cervical smear and peripheral blood lymphocytes were compared in patients with PCOS and normal controls. There was no statistically significant difference between the groups regarding micronucleus frequency in peripheral blood lymphocytes (p0.239). The mean MN scores in exfoliated cervical cells of patients with PCOS and normal controls were 1.19±0.57 and 0.74±0.34, respectively. The difference regarding micronucleus frequencies in cervical cells was statistically significant between the groups (p0.032).Conclusion: Although study group is small, our study results support that there is an increased micronucleus frequency in cervical exfoliated cells of PCOS patients; this is a determinant of genetic hazard in the disease

Chanarin-Dorfman syndrome: A case report

12th Annual WORLD Symposium -- FEB 29-MAR 04, 2016 -- San Diego, CAWOS: 000370888100226

Türkiye’de nonvalvüler atriyum fibrilasyonlu hastalarda vitamin K antagonisti ve yeni oral antikoagülan kullanımı uygulamalarını değerlendirmek için epidemiyolojik çalışma - AFTER*-2 çalışması dizaynı

Amaç: Atriyum fibrilasyonu (AF) önlenebilir iskemik inmenin en sık nedenlerinden biri olup artmış kardiyovasküler morbidite ve mortaliteyle ilişkilidir. Ülkemizde yeni oral antikoagülan kullanım sıklığı, vitamin K antagonisti kullanan hastalarda Uluslararası Düzeltme Oranı’nın (INR) etkin düzeyde kalma oranı ve AF tedavi yönetimi ile ilgili büyük bir çalışma mevcut değildir. Bu çok merkezli çalışmada amacımız nonvalvüler AF hastalarında epidemiyolojik verilerin analizi, takibi ve değerlendirilmesidir. Çalışma planı: Kırk iki merkezden elektrokardiyografisinde en az bir defa AF atağı tespit edilmiş ardışık 4100 erişkin hasta çalışmaya alınacaktır. Romatizmal mitral darlığı ve protez kapak hastalığı olan AF hastaları çalışmaya alınmayacaktır. Hastalar birinci yılın sonunda majör kardiyak sonlanım noktaları (ölüm, geçici iskemik atak, inme, sistemik tromboembolizm, majör kanama ve hastane yatışı) açısından değerlendirilecektir. Bulgular: İlk sonuçlar Haziran 2015 yılında bekleniyor. Majör kardiyak sonlanım noktaları açısından veriler Ocak 2016’da elde edilecektir. Sonuç: AFTER-2 çalışması ile ülkemizdeki non-valvüler AF hastalarının oral antikoagülan tedavi kullanım sıklığı ve çeşidi, varfarin alan hastalarda etkin INR düzeylerinde kalma oranı ve benimsenen tedavi yönetimi belirlenecektir. Ayrıca, ülkemizde AF’li hastalarda majör istenmeyen olay sıklığı ve bu olayların bağımsız belirteçleri de ortaya çıkarılacaktır (AFTER-2 Study ClinicalTrials.gov number, NCT02354456). Anahtar Kelimeler: Antikoagülan ilaç; atriyum fibrilasyonu/epidemiyoloji; ilaç kullanımı; elektrokardiyografi; uluslararası düzeltme oranı; varfarin.Objectives: Atrial fibrillation (AF) is one of the most common causes opreventable ischemic stroke and is related to increased cardiovasculamorbidity and mortality. There is a lack of data in Turkey on the use onew oral anticoagulants (NOACs), and time in therapeutic INR range (TTR) in vitamin K antagonist users and AF management modalityIn this multi-center trial, we aimed to analyze, follow and evaluate the epidemiological data in non-valvular AF patients. Study design: Four thousand one hundred consecutive adulpatients from 42 centers with at least one AF attack identified on electrocardiography will be included in the study. Patients with rheumatic mitral valve stenosis and prosthetic valve disease will be excluded from the study. At the end of one year, the patients will be evaluated in terms of major cardiac end points (death, transient ischemic attack, strokesystemic thromboembolism, major bleeding and hospitalization). Results: First results are expected in June 2015. Data about majocardiovascular end-points will be available in January 2016. Conclusion: The rates and kind of oral anticoagulant use, TTR in vitamin K antagonist users and main management modality applied in non-valvular AF patients will be determined by AFTER-2 studyIn addition, the rate of major adverse events (MACEs) and the independent predictors of these MACEs will be detected (AFTER-2 Study ClinicalTrials.gov number, NCT02354456.)

Demographics of patients with heart failure who were over 80 years old and were admitted to the cardiology clinics in Turkey

WOS: 000468584300005PubMed ID: 30930455Objective: Heart failure (HF) has a high prevalence and mortality rate in elderly patients; however, there are few studies that have focused on patients older than 80 years. The aim of this study is to describe and compare the age-specific demographics and clinical features of Turkish elderly patients with HF who were admitted to cardiology clinics. Methods: The Epidemiology of Cardiovascular Disease in Elderly Turkish population (ELDER-TURK) study was conducted in 73 centers in Turkey, and it recruited a total of 5694 patients aged 65 years or older. In this study, the clinical profile of the patients who were aged 80 years or older and those between 65 and 79 years with HF were described and compared based on the ejection fraction (EF)-related classification: HFrEF and HFpEF (is considered as EF: >= 50%). Results: A total of 1098 patients (male, 47.5%; mean age, 83.5 +/- 3.1 years) aged 80 years and 4596 patients (male, 50.2 %; mean age, 71.1 +/- 4.31 years) aged 65-79 years were enrolled in this study. The prevalence of HF was 39.8% for patients who were >= 80 years and 27.1% for patients 65-79 years old. For patients aged >= 80 years with HF, the prevalence rate was 67% for hypertension (HT), 25.6% for diabetes mellitus (DM), 54.3% for coronary artery disease (CAD), and 42.3% for atrial fibrilation. Female proportion was lower in the HFrEF group (p=0.019). The prevalence of HT and DM was higher in the HFpEF group (p= 80 years with HFrEF (p<0.01). Conclusion: HF is common in elderly Turkish population, and its frequency increases significantly with age. Females, diabetics, and hypertensives are more likely to have HFpEF, whereas CAD patients are more likely to have HFrEF.Turkish Society of CardiologyThis study was supported by Turkish Society of Cardiology

Demographics of patients with heart failure who were over 80 years old and were admitted to the cardiology clinics in Turkey

Objective: Heart failure (HF) has a high prevalence and mortality rate in elderly patients; however, there are few studies that have focused on patients older than 80 years. The aim of this study is to describe and compare the age-specific demographics and clinical features of Turkish elderly patients with HF who were admitted to cardiology clinics. Methods: The Epidemiology of Cardiovascular Disease in Elderly Turkish population (ELDER-TURK) study was conducted in 73 centers in Turkey, and it recruited a total of 5694 patients aged 65 years or older. In this study, the clinical profile of the patients who were aged 80 years or older and those between 65 and 79 years with HF were described and compared based on the ejection fraction (EF)-related classification: HFrEF and HFpEF (is considered as EF: >= 50\%). Results: A total of 1098 patients (male, 47.5\%; mean age, 83.5 +/- 3.1 years) aged 80 years and 4596 patients (male, 50.2 \%; mean age, 71.1 +/- 4.31 years) aged 65-79 years were enrolled in this study. The prevalence of HF was 39.8\% for patients who were >= 80 years and 27.1\% for patients 65-79 years old. For patients aged >= 80 years with HF, the prevalence rate was 67\% for hypertension (HT), 25.6\% for diabetes mellitus (DM), 54.3\% for coronary artery disease (CAD), and 42.3\% for atrial fibrilation. Female proportion was lower in the HFrEF group (p=0.019). The prevalence of HT and DM was higher in the HFpEF group (p<0.01), whereas CAD had a higher prevalence in the HFrEF group (p=0.02). Among patients aged 65-79 years, 43.9\% (548) had HFpEF, and 56.1\% (700) had HFrEF. In this group of patients aged 65-79 years with HFrEF, the prevalence of DM was significantly higher than in patients aged >= 80 years with HFrEF (p<0.01). Conclusion: HF is common in elderly Turkish population, and its frequency increases significantly with age. Females, diabetics, and hypertensives are more likely to have HFpEF, whereas CAD patients are more likely to have HFrEF