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Öğe Case of twin achondroplasia and autism coexistence and literature review(Lippincott Williams & Wilkins, 2023) Bilgec, Nagehan; Balasar, Ozgur; Uzun, Necati; Pekcan, Sevgi; Bedel, Fayize Maden; Caksen, HuseyinAchondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and microdeletion syndromes such as Phelan-McDermid syndrome helps to shed light on the genetic basis of autism spectrum disorder. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.Copyright (c) 2023 Wolters Kluwer Health, Inc. All rights reserved.Öğe The effect of rs9939609 FTO gene polymorphism on weight loss after laparoscopic sleeve gastrectomy(Springer, 2016) Balasar, Ozgur; Cakir, Tugrul; Erkal, Ozgur; Aslaner, Arif; Cekic, Bulent; Uyar, Mehmet; Bulbuller, NurullahPurpose Remarkable differences in weight loss have been observed in obese patients undergoing laparoscopic sleeve gastrectomy (LSG). These high variations might be partly explained by genetic factors. The rs9939609 fat mass and obesity-associated gene (FTO) polymorphism has been implicated in the susceptibility of obesity. We aimed to explore the effects of the rs9939609 FTO gene polymorphism on weight loss among severely obese patients applying for LSG. Materials and methods All individuals were analyzed for the FTO rs9939609 gene polymorphism. A total of 74 morbid obese patients (20 male, 54 female) were operated. Body weight and body mass index (BMI) were measured at before LSG and after surgery at the sixth month. Results Twenty-eight patients (37.8 %) had genotype TT (wild-type allel), 36 patients (48.6 %) had genotype TA, and 10 patients (13.5 %) had genotype AA. In both wildtype group and mutant group, BMI and weight levels decreased at the sixth month after surgery. Percent of excess weight loss (EWL) at 6 months of follow-up was similar in both groups. There were no differences between the mutant and wild-type groups percent of EWL at the sixth month after applying LSG. Conclusion Our data showed that the rs9939609 FTO gene polymorphism is not a useful genetic test prior to LSG to help clinicians predicting the weight loss for severely obese patients in short-term follow-up.Öğe Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey(Churchill Livingstone, 2022) Bisgin, Atil; Sag, Sebnem Ozemri; Dogan, Muhammet E.; Yildirim, Mahmut S.; Gumus, Aydeniz Aydin; Akkus, Nejmiye; Balasar, OzgurBRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects.Öğe Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH(Aves, 2020) Balasar, Ozgur; Acar, HasanObjective: The interchromosomal effect (ICE) refers to the uncertainty during meiosis where the rearrangement of the chromosomes affects the segregation of the chromosomes that are not involved in the structural chromosomal abnormalities. The aim of this study is to investigate the existence of ICE in the sperm nuclei of the males who have structural chromosomal abnormalities. Material and methods: Nine male individuals who are the carriers of the structural chromosomal abnormalities (patient group) and 14 male individuals who did not have any chromosomal abnormalities (control group) were diagnosed by the classical cytogenetic analysis. The aneuploidy of chromosomes 2, 3, 12, 13, 17, 18, 21, X, and Y in the sperm nuclei was investigated using the fluorescence in situ hybridization (FISH) method in these individuals. The patient group included 5 Robertsonian translocation (ROB) carriers, 3 reciprocal translocation (RCP) carriers, and 1 inversion carrier. Results: A total of 51921 sperm nuclei were analyzed (19484 from the patient group and 32437 from the control group). While ICE was determined in 4 of 5 patients who were the carriers of ROB and an inversion carrier patient, it was not determined in the patient carrier of RCP. Conclusion: Our results suggest that there is ICE in the male carriers with a structural chromosomal abnormality, which appears to be translocation, breakpoint, chromosome, and patient dependent.Öğe Translocation t(12;22)(p13;q11) in a patient with AML M1(Springer, 2015) Balasar, Mine; Tasdemir, Pelin; Balasar, Ozgur; Bilgin, Aynur Ugur; Acar, Aynur[Abstract Not Availabe]
