Yazar "Büyükdoğan, Murat" seçeneğine göre listele
Listeleniyor 1 - 10 / 10
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Beta globin mutations in Turkish, northern Iraqi and albanian patients with beta thalassemia major(Pagepress Publ, 2018) Hançer, Veysel Sabri; Fışgın, Tunç; Büyükdoğan, Murat; Bozkurt, Ceyhun; Lako, SotiraqThe mutation detection of beta thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The b globin gene has 3 exons and 2 introns, involved in beta-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of b globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric beta thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3' UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs.Öğe Cholangitis, döhle bodies, may-hegglin anomaly(2022) Hançer, Veysel Sabri; Tokgöz, Hüseyin; Güvenç, Serkan; Çalışkan, Ümran; Büyükdoğan, MuratCholangitis, Döhle bodies, May-Hegglin anomalyÖğe The first congenital disorders of glycosylation patient (fetus) with homozygous cog5 c.95t>g variant(Karger, 2023) Büyükdoğan, Murat; Hançer, Veysel Sabri; Sucak, AyhanIntroduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides. Case Presentation: In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the COG5 gene has shown a pathogenic variant. Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygous COG5 c.95T>G variant.Öğe A novel ganciclovir resistance mutation in the UL97 gene of the HHV-5 in an adult hematopoietic stem cell transplant recipient(Future Medicine Ltd, 2017) Hançer, Veysel Sabri; Sağlam Yarımcan, Filiz; Büyükdoğan, Murat; Akı, Şahika Zeynep; Öksüz, Burcu; Acar, Kadir; Acar, Muradiye; Bulut, PelinTherapeutic management of cytomegalovirus (CMV) disease in hematopoietic stem cell transplantation patients can become a challenge because of the emergence of anti-CMV drug resistance. This case report presents a patient with clinical ganciclovir resistance due to a new mutation: histidine-to-asparagine change at residue 393 of UL97. This mutation, which is located in the nonfunctional region of the UL97 gene, is very unusual. Having more information about the mutations leading to drug resistance in CMV is important for both improved clinical management and development of new diagnostic tests and drugs.Öğe A novel pathological arsb mutation (c.870G>A; p.Trp290stop) in mucopolysaccharidosis type VI patients(Karger, 2019) Hançer, Veysel Sabri; Büyükdoğan, Murat; Babameto-Laku, AnilaMucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness varies according to the residual enzyme activity. Typical features are a short stature, shortened trunk, protuberant abdomen, flexed-knee stance, arched back, corneal clouding, joint stiffness and contractures as well as a waddling gait. Patients typically have Hurler-like dysmorphic facial features: microcephaly, prominent forehead and eyes, a broad nose, low nasal bridge, thick lips, and hyperplastic gums with widely spaced teeth. Complications of the illness include obstructive airway, cardiac valvular problems, splenomegaly, hernias, and pneumonia. Unlike other MPS diseases, MPS VI is characterized by normal intellectual development. Since the disease is due to deficient glycosaminoglycan (mucopolysaccharide) metabolism, elevated urinary glycosaminoglycan levels are a main indicator of MPS. Diagnosis is confirmed by enzyme assays, specifically low arylsulfatase B activity in conjunction with the normal activity of other lysosomal enzymes. Enzyme replacement therapy and hematopoietic stem cell therapy are showing positive results in the management of the condition. The more severely affected patients, with a rapidly advancing form of the disease, have a short life span and succumb, most commonly to heart failure, by early adulthood. The frequency of ARSB variants in patients with MPS VI are as follows: 59.5% missense, 13.5% small deletions, 12% nonsense, 5% splice site or intronic variants, 3% small duplications, 3% large deletions, and 1% stop-loss. We report an Albanian family with siblings diagnosed with MPS Vl after clinical examination, biochemical tests, and molecular analysis. Hereby, a novel c.870G>A nonsense homozygous mutation was found responsible for the loss of the enzyme activity.Öğe Prevalence of human papilloma virus types in Turkish and Albanian women(Wolters Kluwer Medknow Publications, 2018) Hançer, Veysel Sabri; Büyükdoğan, Murat; Bylykbashi, Ilta; Öksüz, Burcu; Acar, MuradiyeBackground: Human papilloma virus (HPV) infection is the major etiologic agent of cervical carcinoma. The aim of this study was to determine the prevalence of HPV infection and genotype distribution in cervical swabs from 2,234 Turkish and 357 Albanian women with similar lifestyles from two different countries. Materials and Methods: HPV detection and typing were performed by type specific multiplex fluorescent PCR and fragments were directly genotyped by high resolution fluorescence capillary electrophoresis. Results: The most common type was HPV 16 and the second one was HPV 6 for both country. The third common type was 39 and 18 for Turkish and Albanian women, respectively. Conclusions: When we compare our results with other studies, there are differences between the frequency and order of the HPV genotypes detected at the second and subsequent frequencies. This may due to differences in the quality and type of samples analyzed, as well as the HPV detection methods.Öğe Prognostic significance of carbonic anhydrase IX overexpression in stage III non-small cell lung cancer patients after neoadjuvant treatment(Elsevier Gmbh, Urban & Fischer Verlag, 2018) İbiş, Kamuran; Sağlam, Sezer; Sağlam, Esra Kaytan; Fırat, Pınar; Yılmazbayhan, Dilek; Toker, Alper; Özkan, Berker; Hançer, Veysel Sabri; Büyükdoğan, Murat; Disci, Rian; Pilancı, Kezban NurBackground: To assess the prognostic importance of carbonic anhydrase IX (CA IX), a hypoxic biomarker, after neoadjuvant treatment in Stage III non-small cell lung cancer (NSCLC) patients. Methods: Tissue CA IX expression was examined after surgical resection in 77 patients who had undergone neoadjuvant treatment. The effects of CA IX overexpression and other clinical factors on disease-free survival and overall survival were investigated. Results: In multivariate analysis, number of neoadjuvant chemotherapy (CT) courses and gender emerged as significant independent predictors for disease-free survival, where administration of 2-3 courses of neoadjuvant chemotherapy (CT) (HR, 3.2 [95% CI 1.3-7.6], p = 0.009) and female gender were associated with poor survival (HR, 3.2 [95% CI 1.3-7.7], p = 0.009). The only significant independent predictor for overall survival was recurrence (HR, 5.6 [95% CI 2.4-12.8], p < 0.001). On the other hand, CA IX overexpression was not associated with disease free survival (p = 0.560) or overall survival (p = 0.799). Discussion: Our results do not suggest a prognostic role for CA IX overexpression in stage III NSCLC patients who received neoadjuvant treatment.Öğe Three factor 11 mutations associated with factor XI deficiency in a Turkish family(Galenos Yayincilik, 2018) Hançer, Veysel Sabri; Gökgöz, Zafer; Büyükdoğan, MuratFactor XI (FXI) is a homodimeric serine protease, which is produced in the liver and circulates in the plasma complexed with high-molecular-weight kininogen. FXI plays an important role in the amplification of the initial coagulation response via a positive feedback mechanism for the generation of additional thrombin [1,2,3,4]. Congenital FXI deficiency is characterized by decreased levels or activity of FXI in the plasma and may cause an inherited bleeding disorder. The FXI gene is located on 4q34- 35 and consists of 15 exons.Öğe Three novel calreticulin mutations in two Turkish patients(Galenos Yayincilik, 2017) Hançer, Veysel Sabri; Tokgöz, Huseyin; Güvenç, Serkan; Çalışkan, Ümran; Büyükdoğan, MuratCalreticulin (CALR) mutations were first identified exclusively in JAK2-MPL-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) at a rate of 60%-88%, accounting for 1/4 to 1/3 of all patients with ET and PMF [1,2,3]. As of today, more than 55 different types of mutations have been reported. The two most common mutations accounting for 85% of mutated cases are either a 52-bp deletion (type 1; c.1099_1150del; L367fs*46; 44%- 53% of cases) or a 5-bp insertion (type 2; c.1154_1155insTTGTC; K385fs*47; 32%-42% of cases). The remaining 15% include various other infrequent mutations that are often unique or found in only a few patients [4,5].Öğe Two rare pathogenic HBB variants in a patient with beta-thalassemia intermedia(Galenos Yayincilik, 2020) Hançer, Veysel Sabri; Fışgın, Tunç; Büyükdoğan, MuratThe ?-thalassemias are a group of hereditary disorders with autosomal recessive inheritance characterized by the presence of defective synthesis of the ?-globin chain, an integral component of the hemoglobin molecule, resulting in either partial synthesis (?+) or complete absence (?0) [1]. The disease reaches a high frequency in the Mediterranean Basin, Africa, the Middle East, the Indian subcontinent, and Southeast Asia [2]. According to the World Health Organization, the frequency of abnormal hemoglobin is 7% globally [3]. ?-Thalassemia major is characterized by completely inhibited synthesis of beta chains [4], and so it must be treated, generally by transfusion therapy [4].
