Yazar "Hançer, Veysel Sabri" seçeneğine göre listele
Listeleniyor 1 - 17 / 17
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 A case mimicking chronic myeloid leukemia with t(8;22)(p11;q11)/BCR-FGFR1 and sequential transformation to B-acute lymphoblastic leukemia and acute myeloid leukemia(Springer Science and Business Media Deutschland GmbH, 2021) Bayrak, Ayşe Gül; Uçur, Ali; Dağlar-Aday, Aynur; Bağatır, Gülçin; Erdem, Simge; Hançer, Veysel Sabri; Nalçacı, Meliha; Öztürk, Şükrü; Cefle, Kıvanç; Palandüz, Şükrü; Yavuz, Akif SelimMyeloid/lymphoid neoplasm is a rare malignancy with an aggressive course and rapid transformation to acute myeloid leukemia (AML), or less frequently to acute lymphoblastic leukemia (ALL). Cases with t(8;22)(p11;q11) BCR-FGFR1 fusion gene may be misdiagnosed with chronic myeloid leukemia (CML), due to a very similar morphologic and clinical profile. We report a case of 48-year-old woman who complained of weakness and gastric pain. She had splenomegaly, eosinophilia, and elevated white blood cells. Bone marrow (BM) aspiration biopsy was performed with an initial diagnosis of CML. Cytogenetic analysis of the BM showed a 46,XX,t(8;22)(p11.2;q11.2). She was diagnosed with myeloid/lymphoid neoplasm with eosinophilia and rearrangement of FGFR1 gene. Throughout the chronic phase, the patient was treated with hydroxurea. Additional chromosomal abnormalities developed during therapy. Owing to the (8;22) clone, our patient did not respond to the treatment and rapidly transformed first to B-ALL and then AML. To the best of our knowledge, this is the first MPN patient with rearrangement of BCR and FGFR1 genes with rapid transformation to B-ALL and then to AML.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 clinical significance of jak2v617f mutation for philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchic vein thrombosis(Cig Media Group, Lp, 2019) Hindilerden, Fehmi; Hindilerden, İpek Yonal; Pınarbaşı Şimşek, Binnur; Hançer, Veysel Sabri; Kaymakoğlu, Sabahattin; Küçükkaya, Reyhan Diz; Nalçacı, MelihaContext: High prevalence of JAK2V617F mutation in splanchic vein thrombosis (SVT), including Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) raised suspicion of an underlying Philadelphiaenegative chronic myeloproliferative disease (MPD).Öğe 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 Kruppel-Like transcription factor-4 gene expression and DNA methylation status in type 2 diabetes and diabetic nephropathy patients(Elsevier Science Inc, 2019) Coşkun, Zeynep Mine; Ersöz, Melike; Adaş, Mine; Hançer, Veysel Sabri; Boysan, Şerife Nur; Gönen, Mustafa Sait; Acar, AynurBackground/Aim. Diabetic nephropathy (DN) is one of the most serious microvascular complications in diabetic patients. The kruppel-like transcription factor-4 (KLF-4) affects the expression of genes involved in the pathogenesis of DN. The present study aims to identify the KLF-4 expression and DNA methylation (DNAMe) status in patients with type-2 diabetes (T2D) and DN and to reveal the contribution of the KLF-4 to the development of DN. Material and Methods. The cohort study was performed with blood samples from 120 individuals; T2D group (n = 40), DN group (n = 40) and control group (n = 40). The expression level of the KLF-4 gene was analyzed using the real-time polymerase chain reaction (qRT-PCR) and the methylation profile detected using the methylation-specific PCR (MS-PCR) technique. Results. According to our findings, KLF-4 mRNA expression in the T2D group was 1.60 fold lower than in the control group (p = 0.001). In the DN group, the expression of KLF-4 mRNA was 2.92-fold less than that of the T2D group (p = 0.001). There was no significant alteration in the DNAMe status among the groups. Conclusion. Our findings showed that regardless of the DNAMe status, KLF-4 gene expression may play a role in the development of T2D and DN. This suggests that the KLF-4 gene may be the target gene in understanding the mechanism of nephropathy, which is the most important complication of diabetes, and planning nephropathy-related treatments, but the data should be supported with more studies. (C) 2019 IMSS. Published by Elsevier Inc.Öğe A novel COL3A1c.2644G > T; p.(Gly882Cys) variant in a Turkish family with vascular ehlers-danlos syndrome(Karger, 2020) Aydıner, Ömer; Hançer, Veysel SabriVascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenicCOL3A1variant.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 Pharmacogenetic aspect of intravitreal ranibizumab treatment in neovascular age-related macular degeneration: a five-year follow-up(Taylor & Francis Inc, 2018) Şengül, Elvan Alper; Artunay, Özgür; Rasier, Rıfat; Koçkar, Alev; Afacan, Ceyda; Hançer, Veysel Sabri; Yuzbaşıoğlu, ErdalPurpose: This study aims to evaluate the role of complement factor H (CFH) in response to intravitreal ranibizumab (IVR) treatment, which is administered to patients with neovascular age-related macular degeneration (nAMD).Methods: In this retrospective study, 90 nAMD patients' 90 eyes were evaluated. IVR was injected once a month for three consecutive months, and then, patients were followed up for five years by using pro re nata method.Results: Average visual acuity (BCVA) values in TT group for the third, fourth and fifth years were found to be significantly higher than those in TC and CC groups, while average BCVA values in TC group were significantly higher than those in CC group (all p = .000 < .0167).Conclusion: Patients with CFH TT genotype responded significantly better to treatment after third year, while patients with CC genotype had a poorer response to IVR.Öğe Poisoning by butylated hydroxytoluene quinone methide acting as a superwarfarin: first reported case in humans(Lippincott williams & wilkins, 2024) Hindilerden, Fehmi; Aksoy, Elif; Öztürkmen, Aslı Yüksel; Türker, Gamze; Gültürk, Emine; Hançer, Veysel Sabri; Mercan, SeldaSuperwarfarins are anticoagulant rodenticides nearly 100-fold potent than the parent compound. Since their development, accidental and intentional cases of superwarfarin poisoning have been reported. We report the first human case of poisoning by butylated hydroxytoluene (BHT) quinone methide acting as a superwarfarin otherwise reported to be a well tolerated food additive and preservative and used as an antioxidant, stabilizer, anti-skinning agent in various industries. We aim to highlight the possible underlying cause of this previously unreported and potentially lethal BHT-related complication in the human.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 The relationship between clinical parameters and hepatocyte growth factor/c-Met levels in the sperm of infertile males(IMR PRESS, 2022) Kayan, Başak Özge; Hançer, Veysel Sabri; Görmüş, Uzay; Özcan, Cenk; Abike, Faruk; Baykal, Cem MuratObjective: Hepatocyte growth factor is a pleiotropic cytokine with potent mitogenic activity in many organs and tissues. The receptor for hepatocyte growth factor is c-Met, a transmembrane glycoprotein with tyrosine kinase activity. We investigated the relationships between hepatocyte growth factor and c-Met expression levels on sperm motility and male infertility. Methods: The study was designed as a prospective cohort, single-center clinical trial and was conducted between March 2015 and June 2016. The control group consisted of 31 healthy male volunteers with children, while the study group consisted of 61 men who were diagnosed with male infertility after presenting to the In Vitro Fertilization Unit of our Institute. All participants in the study were aged 18-60 years. Sperm samples were taken from each participant and divided in two. The fresh sample was examined immediately for expression of c-Met, while the other was stored frozen and evaluated later for hepatocyte growth factor. Primary outcome measures were the levels of hepatocyte growth factor and c-Met expression, while secondary outcome measures were the correlation of these levels with sperm count, morphology and motility. Results: The c-Met expression level in the control group (26.53 +/- 3.50, 19.43-32.73) was significantly lower than in the infertile group (27.95 +/- 2.86, 21.58-33.07) (p = 0.039). HGF expression was also significantly lower in the control group (3.25 +/- 1.76, 0.83-8.25) than in the infertile group (4.87 +/- 4.11, 1.01-21.58) (p = 0.043). In the overall group, c-Met expression showed a positive correlation with sperm motility percentage and a negative correlation with sperm count and sperm morphology percentage. Conclusions: The c-Met receptor and its ligand, hepatocyte growth factor, appear to be fundamental regulators of spermatogenesis, sperm motility and fertilization capacity.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].
