Araştırma Çıktıları | WoS | Scopus | TR-Dizin | PubMed
Permanent URI for this communityhttps://hdl.handle.net/20.500.14719/1741
Browse
455 results
Search Results
Publication Open Access Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations(2010) Bilgüvar, Kaya; Öztürk, Ali Kemal; Louvi, Angeliki; Kwan, Kenneth Y.; Choi, Murim; Tatlí, Burak; Yalnizoǧlu, Dilek; Tüysüz, Beyhan; Caglayan, Ahmet Okay; Gökben, Sarenur; Bilgüvar, Kaya, Department of Neurosurgery, Yale School of Medicine, New Haven, United States, Department of Neurobiology, Yale School of Medicine, New Haven, United States, Department of Genetics, Yale School of Medicine, New Haven, United States; Öztürk, Ali Kemal, Department of Neurosurgery, Yale School of Medicine, New Haven, United States, Department of Neurobiology, Yale School of Medicine, New Haven, United States, Department of Genetics, Yale School of Medicine, New Haven, United States; Louvi, Angeliki, Department of Neurosurgery, Yale School of Medicine, New Haven, United States, Department of Neurobiology, Yale School of Medicine, New Haven, United States, Department of Genetics, Yale School of Medicine, New Haven, United States; Kwan, Kenneth Y., Department of Neurobiology, Yale School of Medicine, New Haven, United States, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, United States; Choi, Murim, Department of Genetics, Yale School of Medicine, New Haven, United States; Tatlí, Burak, Department of Pediatrics, İstanbul Tıp Fakültesi, Istanbul, Turkey; Yalnizoǧlu, Dilek, Department of Pediatrics, Hacettepe Üniversitesi, Ankara, Turkey; Tüysüz, Beyhan, Department of Pediatrics, İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Istanbul, Turkey; Caglayan, Ahmet Okay,; Gökben, Sarenur, Department of Pediatrics, Ege University Medical School, Izmir, TurkeyThe development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers1,2. An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development3-6. Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging. © 2010 Macmillan Publishers Limited. All rights reserved. © 2012 Elsevier B.V., All rights reserved., MEDLINE® is the source for the MeSH terms of this document.Publication Metadata only Coupled nonparametric shape and moment-based intershape pose priors for multiple basal ganglia structure segmentation(2010) Uzunbaş, Mustafa Gökhan; Soldea, Octavian; Ünay, Devrim; Çetin, Müjdat; Unal, Gozde Bozkurt; Erçil, Aytül; Ekin, Ahmet; Uzunbaş, Mustafa Gökhan, Faculty of Engineering and Natural Sciences, Sabancı Üniversitesi, Tuzla, Turkey, Department of Computer Science, Piscataway, United States; Soldea, Octavian, Faculty of Engineering and Natural Sciences, Sabancı Üniversitesi, Tuzla, Turkey; Ünay, Devrim, Department of Electrical and Electronic Engineering, Bahçeşehir Üniversitesi, Istanbul, Turkey; Çetin, Müjdat, Faculty of Engineering and Natural Sciences, Sabancı Üniversitesi, Tuzla, Turkey; Unal, Gozde Bozkurt, Faculty of Engineering and Natural Sciences, Sabancı Üniversitesi, Tuzla, Turkey; Erçil, Aytül, Faculty of Engineering and Natural Sciences, Sabancı Üniversitesi, Tuzla, Turkey; Ekin, Ahmet, Video Processing and Analysis Group, Philips Research, Eindhoven, NetherlandsThis paper presents a new active contour-based, statistical method for simultaneous volumetric segmentation of multiple subcortical structures in the brain. In biological tissues, such as the human brain, neighboring structures exhibit co-dependencies which can aid in segmentation, if properly analyzed and modeled. Motivated by this observation, we formulate the segmentation problem as a maximum a posteriori estimation problem, in which we incorporate statistical prior models on the shapes and intershape (relative) poses of the structures of interest. This provides a principled mechanism to bring high level information about the shapes and the relationships of anatomical structures into the segmentation problem. For learning the prior densities we use a nonparametric multivariate kernel density estimation framework. We combine these priors with data in a variational framework and develop an active contour-based iterative segmentation algorithm. We test our method on the problem of volumetric segmentation of basal ganglia structures in magnetic resonance images. We present a set of 2-D and 3-D experiments as well as a quantitative performance analysis. In addition, we perform a comparison to several existent segmentation methods and demonstrate the improvements provided by our approach in terms of segmentation accuracy. © 2010 IEEE. © 2010 Elsevier B.V., All rights reserved.Publication Metadata only The impact of conservative discourses in family policies, population politics, and gender rights in Poland and Turkey(2011) Korkut, Umut; Eslen-Ziya, Hande; Korkut, Umut, Glasgow Business School, Glasgow Caledonian University, Glasgow, United Kingdom; Eslen-Ziya, Hande, Bahçeşehir Üniversitesi, Istanbul, TurkeyThis article uses childcare as a case study to test the impact of ideas that embody a traditional understanding of gender relations in relation to childcare. Conservative ideas regard increasing female labor market participation as a cause of decreasing fertility on the functioning of a set of general policies to increase fertility rates. It looks into the Polish and Turkish contexts for empirical evidence. The Polish context shows a highly institutionalized system of family policies in contrast to almost unessential institutions in Turkey. Formally, the labor market participation of women is much lower in Turkey than in Poland. Yet, given the size of the informal market in Turkey, womens labor participation is obviously higher than what appears in the statistics. Bearing in mind this divergence, the article suggests Poland and Turkey as two typologies for studying population politics in contexts where socially conservative ideas regarding gender remain paramount. We qualify ideas as conservative if they enforce a traditional understanding of gender relations in care-giving and underline womens role in the labor market as an element of declining fertility. In order to delineate ideational impact, this article looks into how ideas (a) supplant and (b) substitute formal institutions. Therefore, we argue that there are two mechanisms pertaining to the dominance of conservative conventions: conservative ideas may either supplant the institutional impact on family policies, or substitute them thanks to a superior reasoning which societies assign to them. Furthermore, conservative conventions prevail alongside womens customary unpaid work as care-givers regardless of the level of their formal workforce participation. We propose as our major findings for the literature of population politics that ideas, as ubiquitous belief systems, are more powerful than institutions since they provide what is perceived as legitimate, acceptable, and good for the societies under study. In the end, irrespective of the presence of institutions, socially conservative ideas prevail. © The Author 2011. Published by Oxford University Press. All rights reserved. © 2012 Elsevier B.V., All rights reserved., MEDLINE® is the source for the MeSH terms of this document.Publication Metadata only Icon and user interface design for emergency medical information systems: A case study(2012) Salman, Yücel Batu; Cheng, Hongin; Patterson, Patrick E.; Salman, Yücel Batu, Department of Software Engineering, Bahçeşehir Üniversitesi, Istanbul, Turkey; Cheng, Hongin, Department of Industrial and Management Engineering, Kyungsung University, Busan, South Korea; Patterson, Patrick E., Edward E. Whitacre Jr. College of Engineering, Lubbock, United StatesA usable medical information system should allow for reliable and accurate interaction between users and the system in emergencies. A participatory design approach was used to develop a medical information system in two Turkish hospitals. The process consisted of task and user analysis, an icon design survey, initial icon design, final icon design and evaluation, and installation of the iconic medical information system with the icons. We observed work sites to note working processes and tasks related to the information system and interviewed medical personnel. Emergency personnel then participated in the design process to develop a usable graphical user interface, by drawing icon sketches for 23 selected tasks. Similar sketches were requested for specific tasks such as family medical history, contact information, translation, addiction, required inspections, requests and applications, and nurse observations. The sketches were analyzed and redesigned into computer icons by professional designers and the research team. A second group of physicians and nurses then tested the understandability of the icons. The user interface layout was examined and evaluated by system users, followed by the system's installation. Medical personnel reported the participatory design process was interesting and believed the resulting designs would be more familiar and friendlier. © 2011 Elsevier Ireland Ltd. © 2013 Elsevier B.V., All rights reserved., MEDLINE® is the source for the MeSH terms of this document.Publication Metadata only Standardization of Turkish form of metacognition questionnaire for children and adolescents: The relationships with anxiety and obsessive-compulsive symptoms(2012) Irak, Metehan; Irak, Metehan, Department of Psychology, Bahçeşehir Üniversitesi, Istanbul, TurkeyObjective: There were two aims of the present study. The first aim was to evaluate the psychometric properties of the Metacognition Questionnaire for Children and Adolescents (MCQ-C) among Turkish children and adolescents. The second aim was to analyze relationships between metacognitive processes, anxiety, and obsessive-compulsive symptoms among Turkish children and adolescents. Method: Four hundred and seventy primary and high school students (205 female, 265 male) from 71 different public schools in Istanbul participated in the study. Three questionnaires were used. In addition to MCQ-C, State-Trait Anxiety Scale for Children and Maudsley Obsessive- Compulsive Inventory were administrated in the study. Results: The Turkish form of MCQ-C showed acceptable to good test-retest reliability and good internal consistency and convergent validity. Construct validity was evaluated by confirmatory factor analysis using AMOS. The fit indices of confirmatory factor analysis suggested an acceptable fit to a four-factor model consistent with the original MCQ-C. Significant positive correlations between subscales of MCQ-C and measures of anxiety and obsessive-compulsive symptoms provided further support for the convergent validity of the Turkish form of MCQ-C. Group comparisons showed that the effect of age was significant on the MCQ-C positive meta-worry subscale only, on the other hand, effect of gender was significant on MCQ-C negative meta-worry subscale and total score. Conclusion: The psychometric properties of Turkish form of MCQ-C showed that the instrument is a valuable addition to the assessment of metacognition for Turkish children and adolescents. © 2012 Elsevier B.V., All rights reserved.Publication Metadata only Collection and analysis of a Parkinson speech dataset with multiple types of sound recordings(Institute of Electrical and Electronics Engineers Inc., 2013) Erdogdu Sakar, Betul; Isenkul, M. Erdem; Sakar, C. Okan; Sertbaş, Ahmet; Gürgen, Fïkret S.; Delil, Sakir; Apaydin, H.; Kursun, Olcay; Erdogdu Sakar, Betul, Department of Computer Programming, Bahçeşehir Üniversitesi, Istanbul, Turkey; Isenkul, M. Erdem, Department of Computer Engineering, Istanbul Üniversitesi, Istanbul, Turkey; Sakar, C. Okan, Department of Computer Engineering, Bahçeşehir Üniversitesi, Istanbul, Turkey; Sertbaş, Ahmet, Department of Computer Engineering, Istanbul Üniversitesi, Istanbul, Turkey; Gürgen, Fïkret S., Department of Computer Engineering, Boğaziçi Üniversitesi, Bebek, Turkey; Delil, Sakir, Department of Neurology, İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Istanbul, Turkey; Apaydin, H., Department of Neurology, İstanbul University-Cerrahpaşa Cerrahpaşa Faculty of Medicine, Istanbul, Turkey; Kursun, Olcay, Department of Computer Engineering, Istanbul Üniversitesi, Istanbul, TurkeyThere has been an increased interest in speech pattern analysis applications of Parkinsonism for building predictive telediagnosis and telemonitoring models. For this purpose, we have collected a wide variety of voice samples, including sustained vowels, words, and sentences compiled from a set of speaking exercises for people with Parkinson's disease. There are two main issues in learning from such a dataset that consists of multiple speech recordings per subject: 1) How predictive these various types, e.g., sustained vowels versus words, of voice samples are in Parkinson's disease (PD) diagnosis? 2) How well the central tendency and dispersion metrics serve as representatives of all sample recordings of a subject? In this paper, investigating our Parkinson dataset using well-known machine learning tools, as reported in the literature, sustained vowels are found to carry more PD-discriminative information. We have also found that rather than using each voice recording of each subject as an independent data sample, representing the samples of a subject with central tendency and dispersion metrics improves generalization of the predictive model. © 2013 IEEE. © 2022 Elsevier B.V., All rights reserved.Publication Open Access Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities(2013) Radmanesh, Farid; Çağlayan, Ahmet Okay; Silhavy, Jennifer L.; Yılmaz, Cahide; Cantagrel, Vincent; Omar, Tarek E.I.; Rosti, Başak; Kaymakçalan, Hande; Gabriel, Stacey Bolk; Li, Mingfeng; Radmanesh, Farid, Department of Neurosciences, La Jolla, United States, Howard Hughes Medical Institute, Chevy Chase, United States; Caglayan, Ahmet Okay, Department of Neurosurgery, Yale School of Medicine, New Haven, United States; Silhavy, Jennifer L., Department of Neurosciences, La Jolla, United States, Howard Hughes Medical Institute, Chevy Chase, United States; Yilmaz, Cahide, Department of Pediatrics, Mustafa Kemal Üniversitesi, Antakya, Turkey; Cantagrel, Vincent, Department of Neurosciences, La Jolla, United States, Howard Hughes Medical Institute, Chevy Chase, United States; Omar, Tarek E.I., Department of Pediatric Neurology, Faculty of Medicine, Alexandria, Egypt; Rosti, Başak, Department of Neurosciences, La Jolla, United States, Howard Hughes Medical Institute, Chevy Chase, United States; Kaymakçalan, Hande, Department of Genetics and Bioinformatics, Bahçeşehir Üniversitesi, Istanbul, Turkey; Gabriel, Stacey Bolk, Massachusetts Institute of Technology, Cambridge, United States; Li, Mingfeng, Department of Neurobiology, Yale School of Medicine, New Haven, United StatesCobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation. © 2013 The American Society of Human Genetics. © 2013 Elsevier B.V., All rights reserved., MEDLINE® is the source for the MeSH terms of this document.Publication Unknown Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community(2013) Cangül, Hakan; Aycan, Zehra; Olivera-Nappa, Alvaro; Saǧlam, Halil; Schoenmakers, Nadia A.; Boelaert, Kristien; Çetinkaya, Semra Çaǧlar; Tarim, Ömer Faruk; Böber, Ece; Darendeli̇Ler, Feyza F.; Cangül, Hakan, Department of Medical Genetics, Bahçeşehir Üniversitesi, Istanbul, Turkey, Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, United Kingdom; Aycan, Zehra, Division of Paediatric Endocrinology, Children's Hospital, Ankara, Turkey; Olivera-Nappa, Alvaro, Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom; Saǧlam, Halil, Department of Paediatric Endocrinology, Bursa Uludağ Üniversitesi, Bursa, Turkey; Schoenmakers, Nadia A., University of Cambridge, Cambridge, United Kingdom; Boelaert, Kristien, Centre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, United Kingdom; Çetinkaya, Semra Çaǧlar, Division of Paediatric Endocrinology, Children's Hospital, Ankara, Turkey; Tarim, Ömer Faruk, Department of Paediatric Endocrinology, Bursa Uludağ Üniversitesi, Bursa, Turkey; Böber, Ece, Department of Pediatrics, Dokuz Eylül Üniversitesi, Izmir, Turkey; Darendeli̇Ler, Feyza F., Pediatric Endocrinology Unit, İstanbul Tıp Fakültesi, Istanbul, TurkeyObjective In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). Context Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease. Design As TDH is mostly inherited in an autosomal recessive manner, we planned to conduct the study in consanguineous/multi-case families. Patients One hundred and four patients with congenital TDH all coming from consanguineous and/or multi-case families. Measurements Initially, we performed potential linkage analysis of cases to all seven causative-TDH loci as well as direct sequencing of the TPO gene in cases we could not exclude linkage to this locus. In addition, in silico analyses of novel missense mutations were carried out. Results TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus. Four of 10 distinct TPO mutations detected in this study were novel (A5T, Y55X, E596X, D633N). Conclusions This study underlines the importance of molecular genetic studies in diagnosis, classification and prognosis of CH and proposes a comprehensive mutation screening by new sequencing technology in all newly diagnosed primary CH cases. © 2012 John Wiley & Sons Ltd. © 2014 Elsevier B.V., All rights reserved., MEDLINE® is the source for the MeSH terms of this document.Publication Metadata only Interaction between cardioverter defibrillator and enhanced external counterpulsation device(2013) Çelik, Ömer Faruk; Aydin, Alper; Yılmazer, Mustafa Serdar; Sarıgül, Nedim Umutay; Gürol, Tayfun; Daǧdeviren, Bahadïr; Çelik, Ömer Faruk, Department of Cardiology, Training and Research Hospital, Istanbul, Turkey; Aydin, Alper, Department of Cardiology, Bahçeşehir Üniversitesi, Istanbul, Turkey; Yılmazer, Mustafa Serdar, Department of Cardiology, T.C. Maltepe Universitesi Tip Fakültesi, Istanbul, Turkey; Sarıgül, Nedim Umutay, Department of Cardiology, T.C. Maltepe Universitesi Tip Fakültesi, Istanbul, Turkey; Gürol, Tayfun, Department of Cardiology, Bahçeşehir Üniversitesi, Istanbul, Turkey; Daǧdeviren, Bahadïr, Department of Cardiology, Bahçeşehir Üniversitesi, Istanbul, TurkeyBackground Potential interference between implanted cardiac devices and other medical instruments is an important concern. Therefore, we aimed to investigate the possible device interaction between implantable cardioverter defibrillators (ICDs) and external enhanced counterpulsation (EECP) treatment. Methods Twenty-one patients with an implanted ICD or cardiac resynchronization therapy with defibrillator (CRT-D) were enrolled into the study. EECP had applied as two sessions of 5 minutes. Data from device interrogations before and after the first EECP session and during second EECP session were recorded and analyzed for signs of possible device interaction. Results There was no sign of inappropriate sensing or noise during EECP session. There was no difference regarding electrode impedance, pacing, and sensing values before and after EECP. There was a statistically significant difference regarding heart rates during EECP therapy between rate response off and on modes (68.69 ± 5.92 beats/min and 90.32 ± 11.05 beats/min, respectively P = 0,001). In four patients with CRT-D and unipolar left ventricular pacing, counterpulsation could not be done because of QRS sensing problems. Conclusions EECP seems to be a safe treatment modality in patients with implanted ICD and CRT-D devices. It should be kept in mind that in those patients with CRT-D, rate responsive mode is on, inappropriate sinus tachycardia can be seen during EECP therapy. Also in patients with CRT-D using a unipolar sensing mode, problems of QRS complex sensing by the EECP may occur and, therefore, this effects synchronization and success of EECP therapy. ©2013, The Authors. Journal compilation ©2013 Wiley Periodicals, Inc. © 2013 Elsevier B.V., All rights reserved.Publication Metadata only A new syndrome: Right-sided arcus aorta syndrome(2013) Özkaya, Şevket; Dirican, Adem; Tuna, Tibel; Ece, Ferah; Özkaya, Şevket, Department of Pulmonary Medicine, Medical Park Hospital, Bursa, Turkey; Dirican, Adem, Department of Pulmonary Medicine, Medical Park Hospital, Bursa, Turkey; Tuna, Tibel, Department of Pulmonary Medicine, Samsun Chest Diseases and Thoracic Surgery Hospital, Samsun, Turkey; Ece, Ferah, Department of Pulmonary Medicine, Bahçeşehir Üniversitesi, Istanbul, TurkeyRight-sided arcus aorta (RSAA) is a rare congenital anomaly that may cause chronic cough and dyspnoea. We aimed to define RSAA as a new syndrome characterised by RSAA, dyspnoea and cough during exercise. RSAA syndrome should be included in the differential diagnosis of asthma. Copyright © 2013 BMJ Publishing Group. All rights reserved. © 2013 Elsevier B.V., All rights reserved.