35 results on '"Ulas E"'
Search Results
2. Spectrum of Syndromal Disorders Associated with Expansion of CGG Repeats of the FMR1 Gene Promoter: Pathogenetic Mechanisms and Clinical Manifestations
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Pereverzeva, D. S., Tyushkevich, S. A., Ulas, E. V., and Gorbachevskaya, N. L.
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- 2022
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3. Spectrum of Syndromal Disorders Associated with Expansion of CGG Repeats of the FMR1 Gene Promoter: Pathogenetic Mechanisms and Clinical Manifestations
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Pereverzeva, D. S., primary, Tyushkevich, S. A., additional, Ulas, E. V., additional, and Gorbachevskaya, N. L., additional
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- 2023
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4. 950O Ipilimumab plus nivolumab and chemoradiotherapy followed by surgery in patients with resectable and borderline resectable lung cancer: The INCREASE trial
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Bahce, I., primary, Dickhoff, C., additional, Schneiders, F.L., additional, Veltman, J., additional, Heineman, D.J., additional, Hashemi, S., additional, Fransen, M., additional, Vrijmoet, A., additional, Houda, I., additional, Ulas, E., additional, van de Ven, P., additional, Bouwhuis, N., additional, Meijboom, L., additional, Oprea-Lager, D., additional, Garcia Vallejo, J., additional, de Gruijl, T.D., additional, Radonic, T., additional, and Senan, S., additional
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- 2022
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5. 1020P Rescue by radiotherapy and anti-CTLA4/PD-1 after failure of anti-PD-1 therapy in metastatic NSCLC patients: The RECLAIM study
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Bahce, I., primary, Schneiders, F.L., additional, Hashemi, S., additional, Veltman, J., additional, Daniels, H., additional, Fransen, M., additional, Radonic, T., additional, Ulas, E., additional, Houda, I., additional, Barlo, N., additional, Disselhorst, M., additional, van Laren, M., additional, Tiemessen, M., additional, Tarasevych, S., additional, van Haarst, J.M.M., additional, van Tilburg, P., additional, Kunst, P., additional, Moons-Pasic, A., additional, de Gruijl, T.D., additional, and Senan, S., additional
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- 2022
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6. A comparison of sedation with midazolam–ketamine versus propofol–fentanyl during endoscopy in children: a randomized trial
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Akbulut, Ulas E., Saylan, Sedat, Sengu, Bilal, Akcali, Gulgun E., Erturk, Engin, and Cakir, Murat
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- 2017
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7. Health Impacts of Daylight in Buildings
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Wilmot, K, Thomas, L, McGee, C, Wynne, L, Berry, F, and Ulas, E
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- 2019
8. PV Modüller/Hücrelerin Tek-Diyot Eşdeğer Devre Parametrelerinin Kestirimi İçin Yeni Bir Analitik Model
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Ulaş EMİNOĞLU and Bilge Kaan ATAY
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eğri uydurma ,matematiksel model ,pv modülü/hücresi ,parametre kestirimi ,Engineering (General). Civil engineering (General) ,TA1-2040 ,Science ,Science (General) ,Q1-390 - Abstract
Bu çalışmada PV modüller için tek-diyot eşdeğer devre parametrelerinin belirlenmesine ilişkin analitik bir model önerilmektedir. Çalışmada ilk olarak literatürde mevcut çok sayıda PV modüller için kısa devre akımı (Isc) ve foton akımı (Ipv) değerleri kullanılarak eğri uydurma yöntemi ile akımlar arasında bir matematiksel bağıntı oluşturulmuştur. Daha sonra, akımlar arasında geliştirilen bu bağıntı eşdeğer devre denklemlerinde kullanılarak 3 bilinmeyenli (Rp, Rs ve a) denklem sisteminden oluşan analitik model geliştirilmiştir. Yapılan analizler, model ile elde edilen eşdeğer devre parametrelerinin ve sonucunda oluşturulan I-V ve P-V karakteristiklerinin deneysel veriler ile çok büyük oranda örtüştüğünü göstermektedir. Bu nedenle hesaplanan ve gerçek veriler arasındaki Hatanın Ortalama Karekökü (RMSE) ve Belirleme Katsayısı (R2) değerleri ihmal edilebilir düzeyde bulunmuştur. Ayrıca modelin diğer yöntemlere göre parametre kestiriminde kullanım kolaylığı, deneysel verilere daha az ihtiyaç duyma ve tüm parametreleri belirleyebilme gibi avantajları olduğunu söylemek mümkündür.
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- 2023
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9. The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study
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Aydan Kansu, Zarife Kuloglu, Gökhan Tümgör, Didem Gülcü Taşkın, Buket Dalgıç, Gönül Çaltepe, Kaan Demirören, Güzide Doğan, Ceyda Tuna Kırsaçlıoğlu, Duran Arslan, İshak Abdurrahman Işık, Hülya Demir, Özlem Bekem, Yasin Şahin, Nevzat Aykut Bayrak, Mukadder Ayşe Selimoğlu, Sibel Yavuz, İbrahim Ethem Taşkaya, Derya Altay, the VICTORIA Study Group, Ayşegül Bükülmez, Arzu Meltem Demir, Yavuz Tokgöz, Zarife Kuloğlu, Hasret Ayyıldız, Günsel Kutluk, Meryem Keçeli Başaran, Oya Balcı Sezer, Tanju Başarır Özkan, Taner Özgür, Gonca Handan Üstündağ, Eda Somuncu, Ali İşlek, Ferda Özbay Hoşnut, Gülseren Evirgen Şahin, Yaşar Doğan, Uğur Deveci, Kamercan Ceylan, Ahmet Baştürk, Necati Balamtekin, Melike Arslan, Hayriye Hızarcıoğlu Gülşen, Atakan Comba, İlknur Varol, Sebahat Çam, Eylem Sevinç, Erkan Doğan, Murat Çakır, Burcu Güven, Suna Selbuz, Hacer Fulya Gülerman, Zeynep Arslan, Ayşen Uncuoğlu, Neslihan Gürcan Kaya, Deniz Ertem, Engin Tutar, Burcu Volkan, Yusuf Usta, Asuman Nur Karhan, Halil Kocamaz, Tuğba Gürsoy Koca, Fatih Ünal, Birol Öztürk, Cansu Altuntaş, Halil Haldun Emiroğlu, Meltem Gümüş, Mustafa Akçam, Yeliz Çağan Appak, Betül Aksoy, Elif Sağ, Ulaş Emre Akbulut, Cahit Barış Erdur, Nafiye Urgancı, Ayşe Merve Usta, Coşkun Çeltik, and Nelgin Gerenli
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neuromuscular disease ,hypertransaminasemia ,elevated transaminase ,Duchenne muscular dystrophy ,Becker muscular dystrophy ,Pompe disease ,Pediatrics ,RJ1-570 - Abstract
IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p
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- 2023
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10. A Practical Guide for Sustainable Climate Control and Lighting in Museums and Galleries
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Ulas, E, Crampton, R, Tenant, F, and Bickersteth, J
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- 2015
11. Complications of Percutaneous Endoscopic Gastrostomy in Children: A Single Centre Experience
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İshak Abdurrahman Işık, Ulaş Emre Akbulut, Atike Atalay, Hasan Serdar Kıhtır, and Yasin Bayram
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percutaneous endoscopic gastrostomy ,complication ,children ,Medicine ,Pediatrics ,RJ1-570 - Abstract
Aim:The aim of this study was to investigate the complications of percutaneous endoscopic gastrostomy in children.Materials and Methods:Ninety-one pediatric patients treated with percutaneous endoscopic gastrostomy (PEG) insertion by pull technique in a five-year period were enrolled into this study. Their hospital records were reviewed retrospectively for their demographic data, their primary diseases causing nutritional insufficiency, and any major or minor complications after PEG insertion.Results:The 91 patients who were included in this study were aged between 1 month and 18 years (median 79 months). 45.1% (n=41) of the patients were female. The majority of the patients (76.9%, n=70) had neurological diseases. Nineteen patients (20.9%) had metabolic diseases and two patients had cystic fibrosis (2.2%). We observed 37 (40.7%) complications in total. Three (3.3%) of them were major and 34 (37.4%) of them were minor complications.Conclusion:Endoscopic percutaneous gastrostomy placement is an important way to continue enteral feeding in children. Although PEG is a minimally invasive technique, there are some problems which may be experienced by the children and their parents after PEG insertion, the majority of the these being minor complications.
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- 2021
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12. Early onset congenital diarrheas; single center experience
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Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi, Thomas Müller, Denise Aldrian, and Andreas R. Janecke
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congenitaldiarrheal disorders ,genetics ,mutation ,panel sequencing ,whole-exome sequencing ,Pediatrics ,RJ1-570 - Abstract
Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. Methods: Demographic, clinical and genetic findings, and outcome of the patients (n = 24) with CDDs were recorded from hospital files. Results: The onset of diarrhea was within the neonatal period in 45.8% of the patients. The most frequent causes of CDDs were defects in digestion, absorption and transport of nutrients and electrolytes (DATN) (n = 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n = 6, 25%). Fat malabsorption (n = 6) was the leading cause of defects in DATN. Extraintestinal manifestations including neurological involvement (25%) and renal involvement (20.8%) were common among the patients. Genetic analyses were performed for 16 patients (targeted gene analysis in 9, congenital diarrhea panel in 3, immune deficiency panel in 1 and whole-exome sequencing in 3 patients). Genetic diagnosis was achieved in 14 of 16 patients (87.5%) with therapeutic consequences in 8 of 16 patients (50%). During the follow-up, 6 patients (25%) died. Conclusion: The percentage of undefined etiology decreased, and treatment of the patients improved with the increased number of genetic testing in patients with CDDs.
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- 2021
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13. Direct immunofluorescence assay compared to cell culture for the diagnosis of mucocutaneous herpes simplex virus infections in children
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Ulas E. Saz, Jewel M. Greer, Gail J. Demmler-Harrison, Lindsay L. Oelze, and A. Chantal Caviness
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Male ,Virus Cultivation ,viruses ,Mucocutaneous zone ,HSL and HSV ,urologic and male genital diseases ,medicine.disease_cause ,Antibodies, Viral ,Likelihood ratios in diagnostic testing ,Sensitivity and Specificity ,Herpesviridae ,stomatognathic system ,Virology ,medicine ,Humans ,Simplexvirus ,Child ,Direct fluorescent antibody ,Antigens, Viral ,Viral culture ,business.industry ,Infant, Newborn ,Infant ,Herpes Simplex ,Infectious Diseases ,Herpes simplex virus ,Cross-Sectional Studies ,Fluorescent Antibody Technique, Direct ,Child, Preschool ,Immunology ,Female ,Viral disease ,business - Abstract
Background Direct immunofluorescence assay (DFA) is commonly used for the rapid identification of herpes simplex virus (HSV) infection in mucocutaneous lesions, yet little is known about its diagnostic accuracy. Objective To determine the diagnostic yield and accuracy of HSV DFA for the diagnosis of mucocutaneous HSV infection in pediatric patients. Study design Retrospective cross-sectional study of all patients who underwent HSV DFA testing by the Texas Children's Hospital Diagnostic Virology between January 1, 1995 and December 31, 2005. HSV DFA sensitivity, specificity, positive likelihood ratio (LRs), and negative LRs were estimated using viral culture as the reference standard. Results 659 specimens were submitted for HSV DFA with concurrent viral cultures. Viral cultures were positive for HSV type 1 in 158 (24%) and HSV type 2 in 2 (0.3%). There were 433 different patients with a median age of 8.6 years. Types of lesions were as follows: 50% ulcerative, 26% vesicular, 8% erythema or purpura, 5% pustular, and 11% missing. Of the 659 specimens submitted for HSV DFA, 160 (24%) were inconclusive due to inadequate cells. Of the 499 adequate specimens, overall HSV DFA test accuracy was: sensitivity 61%, specificity 99%, LR positive 40, and LR negative 0.39. Conclusions A quarter of specimens submitted for HSV DFA testing are not adequate for DFA testing. When HSV DFA can be performed, it is specific, but not sensitive, for the identification of mucocutaneous HSV infection in children.
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- 2010
14. Direct immunofluorescence assay compared to cell culture for the diagnosis of mucocutaneous herpes simplex virus infections in children
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Caviness, A. Chantal, Oelze, Lindsay L., Saz, Ulas E., Greer, Jewel M., and Demmler-Harrison, Gail J.
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- 2010
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15. IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease
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Ulas Emre Akbulut, Hamdi Cihan Emeksiz, Senol Citli, Alper Han Cebi, Hatice Ayca Ata Korkmaz, and Gaye Baki
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Pediatrics ,RJ1-570 - Abstract
Objective: The prevalence of non-alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non-alcoholic fatty liver disease is closely linked to sedentary lifestyle, increased body mass index, and visceral adiposity. In addition, individual genetic variations also have a role in the development and progression of non-alcoholic fatty liver disease. The aim of this study was to investigate the gene polymorphisms of MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313), and IL-17A (-197 G/A) (rs2275913) in obese Turkish children with non-alcoholic fatty liver disease. Methods: The study recruited 186 obese children aged 10–17 years, including 101 children with non-alcoholic fatty liver disease and 85 children without non-alcoholic fatty liver disease. Anthropometric measurements, insulin resistance, a liver panel, a lipid profile, liver ultrasound examination, and genotyping of the four variants were performed. Results: No difference was found between the groups in respect to age and gender, body mass index, waist/hip ratio, or body fat ratio. In addition to the elevated ALT levels, AST and GGT levels were found significantly higher in the non-alcoholic fatty liver disease group compared to the non non-alcoholic fatty liver disease group (p
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- 2019
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16. How COVID drove the evolution of fact-checking
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Samikshya Siwakoti, Kamya Yadav, Nicola Bariletto, Luca Zanotti, Ulas Erdogdu, and Jacob N. Shapiro
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covid-19 ,fact-checking ,social media ,twitter ,Information technology ,T58.5-58.64 ,Communication. Mass media ,P87-96 - Abstract
With the outbreak of the coronavirus pandemic came a flood of novel misinformation. Ranging from harmless false cures to dangerous rhetoric targeting minorities, coronavirus-related misinformation spread quickly wherever the virus itself did. Fact-checking organizations around the world took up the charge against misinformation, essentially crowdsourcing the task of debunking false narratives. In many places, engagement with coronavirus-related content drove a large percentage of overall user engagement with fact-checking content, and the capacity organizations developed to address coronavirus-related misinformation was later deployed to debunk misinformation on other topics.
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- 2021
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17. Duodenal pathologies in children: a single-center experience
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Ulas Emre Akbulut, Sami Fidan, Hamdi Cihan Emeksiz, and Orhan Polat Ors
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Pediatrics ,RJ1-570 - Abstract
Objective: Several studies have been performed concerning pathologies of the stomach and esophagus in the pediatric age group. However, there have been very few studies of duodenal pathologies in children. The authors aimed to examine the clinical, endoscopic, and histopathological characteristics, as well as the etiology of duodenal pathologies in children. Method: Patients aged between 1 and 17 years undergoing esophagogastroduodenoscopy during two years at this unit, were investigated retrospectively. Demographic, clinical, endoscopic data, and the presence of duodenal pathologies, gastritis, and esophagitis were recorded in all of the children. Results: Out of 747 children who underwent endoscopy, duodenal pathology was observed in 226 (30.3%) patients. Pathology was also present in the esophagus in 31.6% of patients and in the stomach in 58.4%. The level of chronic diarrhea was higher in patients with duodenal pathology when compared with those without duodenal pathology (p = 0.002, OR: 3.91, 95% CI: 1.59–9.57). Helicobacter pylori infection was more common in patients with pathology in the duodenum (59.3%). Conclusion: Duodenal pathology was detected in 30.3% of the present patients. A significantly higher level of chronic diarrhea was observed in subjects with duodenal pathologies compared to those with no such pathology. The rate of Helicobacter pylori infection was considerably higher than that in previous studies. In addition, there is a weak correlation between endoscopic appearance and histology of duodenitis. Resumo: Objetivo: Foram realizados vários estudos com relação a patologias do estômago e esôfago na faixa etária pediátrica. Contudo, poucos estudos das patologias duodenais em crianças. Visamos examinar as características clínicas, endoscópicas e histopatológicas juntamente com a etiologia das patologias duodenais em crianças. Método: Foram investigados retrospectivamente pacientes com idades entre 1 e 17 anos submetidos a esofagogastroduodenoscopia durante dois anos em nossa unidade. Os dados demográficos, clínicos e endoscópicos e a presença de patologias duodenais, gastrite e esofagite foram registrados com relação a todas as crianças. Resultados: Das 747 crianças submetidas a endoscopia, 226 (30,3%) pacientes apresentaram patologia duodenal. A patologia também esteve presente no esôfago de 31,6% dos pacientes e no estômago de 58,4% deles. O nível de diarreia crônica foi maior nos pacientes com patologia duodenal, em comparação aos pacientes sem patologia duodenal (p = 0,002, RC: 3,91, IC de 95%: 1,59-9,57). Infecção por Helicobacter pylori foi mais comum em pacientes com patologia no duodeno (59,3%). Conclusão: Foi detectada patologia duodenal em 30,3% de nossos pacientes. Um nível significativamente maior de diarreia crônica foi observado em indivíduos com patologias duodenais, em comparação aos sem nenhuma patologia. A infecção por Helicobacter pylori esteve presente consideravelmente maior que em estudos anteriores. Além disso, há uma fraca correlação entre a imagem endoscópica e a histologia de duodenite. Keywords: Duodenitis, Endoscopy, Children, Palavras-chave: Duodenite, Endoscopia, Crianças
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- 2018
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18. Developing a package for analysis and design optimization of wind turbine systems
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Ulas Eminoglu and Ozan Karahan
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Applied mathematics. Quantitative methods ,T57-57.97 ,Mathematics ,QA1-939 - Abstract
The installation of wind turbines and consequently the use of wind energy is increasing day by day, since the rapid development in semiconductor technology has led to more advance in the wind turbine technologies. On the other hand, it is well known that a Graphical User Interface (GUI) application provides great advantages to the user such as; the use of programming language and data input for systems without coding, getting the results with the help of symbols, icons and other visual graphics. Accordingly, in this paper, to determine the amount of energy production, cost of energy and etc., of a Wind Turbine System (WTS) that has been established or will be installed, a tool is introduced by the presented software package. Besides the analysis option, the package also offers optimization algorithms that would be used for the layout design of types of Wind Turbine Systems which are called fixed-speed and variable-speed Wind Turbine Systems seperately by keeping in consideration the wind speed and geographic features of the regions. The graphical user interface, which is the one of important features of C# program were used and called Analysis & Design Optimization Package (A&DOP).
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- 2019
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19. Modeling and Design Optimization of Variable-Speed Wind Turbine Systems
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Ulas Eminoglu and Saffet Ayasun
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cost of energy ,design optimization ,modeling ,wind turbine systems ,Technology - Abstract
As a result of the increase in energy demand and government subsidies, the usage of wind turbine system (WTS) has increased dramatically. Due to the higher energy production of a variable-speed WTS as compared to a fixed-speed WTS, the demand for this type of WTS has increased. In this study, a new method for the calculation of the power output of variable-speed WTSs is proposed. The proposed model is developed from the S-type curve used for population growth, and is only a function of the rated power and rated (nominal) wind speed. It has the advantage of enabling the user to calculate power output without using the rotor power coefficient. Additionally, by using the developed model, a mathematical method to calculate the value of rated wind speed in terms of turbine capacity factor and the scale parameter of the Weibull distribution for a given wind site is also proposed. Design optimization studies are performed by using the particle swarm optimization (PSO) and artificial bee colony (ABC) algorithms, which are applied into this type of problem for the first time. Different sites such as Northern and Mediterranean sites of Europe have been studied. Analyses for various parameters are also presented in order to evaluate the effect of rated wind speed on the design parameters and produced energy cost. Results show that proposed models are reliable and very useful for modeling and optimization of WTSs design by taking into account the wind potential of the region. Results also show that the PSO algorithm has better performance than the ABC algorithm for this type of problem.
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- 2014
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20. Isolation of a significant fraction of non-phototroph diversity from a desert Biological Soil Crust
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Ulisses eNunes da Rocha, Hinsby eCadillo-Quiroz, Ulas eKaraoz, Lara eRajeev, Niels eKlitgord, Sean eDunn, Viet eTruong, Mayra eBuenrostro, Benjamin Paul Bowen, Ferran eGarcia-Pichel, Aindrila eMukhopadhyay, Trent Russell Northen, and Eoin L Brodie
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biological soil crusts ,Microbial Diversity ,Isolation ,culturability ,dryland microbiology ,Microbiology ,QR1-502 - Abstract
Biological Soil Crusts (BSCs) are organosedimentary assemblages comprised of microbes and minerals in topsoil of terrestrial environments. BSCs strongly impact soil quality in dryland ecosystems (e.g., soil structure and nutrient yields) due to pioneer species such as Microcoleus vaginatus; phototrophs that produce filaments that bind the soil together, and support an array of heterotrophic microorganisms. These microorganisms in turn contribute to soil stability and biogeochemistry of BSCs. Non-cyanobacterial populations of BSCs are less well known than cyanobacterial populations. Therefore, we attempted to isolate a broad range of numerically significant and phylogenetically representative BSC aerobic heterotrophs. Combining simple pre-treatments (hydration of BSCs under dark and light) and isolation strategies (media with varying nutrient availability and protection from oxidative stress) we recovered 402 bacterial and one fungal isolate in axenic culture, which comprised 116 phylotypes (at 97% 16S rRNA gene sequence homology), 115 bacterial and one fungal. Each medium enriched a mostly distinct subset of phylotypes, and cultivated phylotypes varied due to the BSC pre-treatment. The fraction of the total phylotype diversity isolated, weighted by relative abundance in the community, was determined by the overlap between isolate sequences and OTUs reconstructed from metagenome or metatranscriptome reads. Together, more than 8% of relative abundance of OTUs in the metagenome was represented by our isolates, a cultivation efficiency much larger than typically expected from most soils. We conclude that simple cultivation procedures combined with specific pre-treatment of samples afford a significant reduction in the culturability gap, enabling physiological and metabolic assays that rely on ecologically relevant axenic cultures.
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- 2015
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21. Blood flow dynamics during local photoreaction in a head and neck tumor model
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Daniel J. Rohrbach, Erin C. Tracy, Jessica eWalker, Heinz eBaumann, and Ulas eSunar
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biomarker ,head and neck ,Blood flow ,Photodynamic therapy ,diffuse correlation spectroscopy ,Vascular response ,Physics ,QC1-999 - Abstract
We have applied continuous blood flow dynamics, quantified with diffuse correlation spectroscopy (DCS), in investigating photodynamic therapy (PDT) induced local photoreaction in a head and neck tumor model. Photoclor (0.47 µmol/kg) was intravenously administered 24 hour before PDT. Two types of fluence rates were implemented: Low fluence rate (14 mW/cm2) and high fluence rate (75 mW/cm2). The total delivered fluence was 100 J for both types. We observed that PDT induced substantial vascular shut down in both types. While the shutdown was persistent in tumors exposed to low fluence rate PDT, the shutdown was transient in tumors exposed to high fluence PDT. Loss of microvascular structures was confirmed by the microscopic analyses of tumor section following immunostaining for CD31. Blood flow dynamics related metrics were also strongly correlated with crosslinking of STAT3, a molecular marker of photoreaction. STAT3 analysis indicated that low fluence rate yields a substantially higher photoreaction, and, thus, a more effective PDT. Our results indicate that noninvasive blood flow measurements can monitor the efficacy of PDT in real-time and potentially provide a feedback for its optimization.
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- 2015
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22. Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations
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Vorsanova, S. G., Iourov, I. Y., Voinova, V. Y., Kurinnaya, O. S., Zelenova, M. A., Irina Demidova, Ulas, E. V., and Yurov, Y. B.
23. Coupled high-throughput functional screening and next generation sequencing for identification of plant polymer decomposing enzymes in metagenomic libraries
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Mari eNyyssönen, Huu M. Tran, Ulas eKaraoz, Claudia eWeihe, Masood Z. Hadi, Jennifer B. H. Martiny, Adam C. Martiny, and Eoin L. Brodie
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Metagenomics ,carbon cycling ,gene annotation ,microbial communities ,enzyme activity ,functional metagenomics ,Microbiology ,QR1-502 - Abstract
Recent advances in sequencing technologies generate new predictions and hypotheses about the functional roles of environmental microorganisms. Yet, until we can test these predictions at a scale that matches our ability to generate them, most of them will remain as hypotheses. Function-based mining of metagenomic libraries can provide direct linkages between genes, metabolic traits and microbial taxa and thus bridge this gap between sequence data generation and functional predictions. Here we developed high-throughput screening assays for function-based characterization of activities involved in plant polymer decomposition from environmental metagenomic libraries. The multiplexed assays use fluorogenic and chromogenic substrates, combine automated liquid handling and use a genetically modified expression host to enable simultaneous screening of 12,160 clones for 14 activities in a total of 170,240 reactions. Using this platform we identified 374 (0.26 %) cellulose, hemicellulose, chitin, starch, phosphate and protein hydrolyzing clones from fosmid libraries prepared from decomposing leaf litter. Sequencing on the Illumina MiSeq platform, followed by assembly and gene prediction of a subset of 95 fosmid clones, identified a broad range of bacterial phyla, including Actinobacteria, Bacteroidetes, multiple Proteobacteria sub-phyla in addition to some Fungi. Carbohydrate-active enzyme genes from 20 different glycoside hydrolase families were detected. Using tetranucleotide frequency binning of fosmid sequences, multiple enzyme activities from distinct fosmids were linked, demonstrating how biochemically-confirmed functional traits in environmental metagenomes may be attributed to groups of specific organisms. Overall, our results demonstrate how functional screening of metagenomic libraries can be used to connect microbial functionality to community composition and, as a result, complement large-scale metagenomic sequencing efforts.
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- 2013
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24. Differential growth responses of soil bacterial taxa to carbon substrates of varying chemical recalcitrance
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Katherine C Goldfarb, Ulas eKaraoz, China A Hanson, Clark A Santee, Mark A Bradford, Kathleen K Treseder, Matthew D Wallenstein, and Eoin L Brodie
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Bacteria ,Carbon ,Soil ,Microarray ,Bromo-deoxyuridine ,rRNA copy number ,Microbiology ,QR1-502 - Abstract
Soils are immensely diverse microbial habitats with thousands of co-existing bacterial, archaeal and fungal species. Across broad spatial scales, factors such as pH and soil moisture appear to determine the diversity and structure of soil bacterial communities. Within any one site however, bacterial taxon diversity is high and factors maintaining this diversity are poorly resolved. Candidate factors include organic substrate availability and chemical recalcitrance, and given that they appear to structure bacterial communities at the phylum-level, we examine whether these factors might structure bacterial communities at finer levels of taxonomic resolution. Analyzing 16S rRNA gene composition of nucleotide analog-labeled DNA by PhyloChip microarrays, we compare relative growth rates on organic substrates of increasing chemical recalcitrance of >2,200 bacterial taxa across 43 divisions/phyla. Taxa that increase in relative abundance with labile organic substrates (i.e. glycine, sucrose) are numerous (>500), phylogenetically-clustered, and occur predominantly in two phyla (Proteobacteria and Actinobacteria) including orders Actinomycetales, Enterobacterales, Burkholderiales, Rhodocyclales, Alteromonadales and Pseudomonadales. Taxa increasing in relative abundance with more chemically recalcitrant substrates (i.e. cellulose, lignin or tannin-protein) are fewer (168) but more phylogenetically-dispersed, occurring across 8 phyla and including Clostridiales, Sphingomonadalaes, Desulfovibrionales. Just over 6% of detected taxa, including many Burkholderiales increase in relative abundance with both labile and chemically recalcitrant substrates. Estimates of median rRNA copy number per genome of responding taxa demonstrate that these patterns are broadly consistent with bacterial growth strategies. Taken together, these data suggest that changes in availability of intrinsically labile substrates may result in predictable shifts in soil bacterial composition.
- Published
- 2011
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25. Small GTPase ARL4C Associated with Various Cancers Affects Microtubule Nucleation.
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Ulas E, Brodsky I, and Burakov A
- Abstract
Background/objectives: The changes in the level of small GTPase ARL4C are associated with the initiation and progression of many different cancers. The content of ARL4C varies greatly between different tissues, and the induction of ARL4C expression leads to changes in cell morphology and proliferation. Although ARL4C can bind alpha-tubulin and affect intracellular transport, the role of ARL4C in the functioning of the tubulin cytoskeleton remained unclear. The aim of the present work is to study this role; Methods: The cells of the following lines were used for the experiments: HeLa (human cervical carcinoma), MCF7 (human breast cancer), U2OS (human osteosarcoma), Vero, BS-C-1, and COS7 (African green monkey kidney). The receptor activation by agonists followed by the preparation of cell lysates, electrophoresis, and immunoblotting, as well as cell fixation and immunofluorescent staining, were used to assess endogenous ARL4C/ABCA1 levels and the microtubule network morphology. The microtubule regrowth technique was performed to estimate the rate of microtubule nucleation, and the overexpression of different ARL4C constructs was used to affect ARL4C activity in the cells; Results: We showed that the changes in the endogenous ARL4C level or the ARL4C activity alter the microtubule nucleation process in the cells; Conclusions: small GTPase ARL4C may serve as one of the regulators of the microtubule nucleation process both in normal and cancer cells.
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- 2024
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26. Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.
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Sparber P, Ulas E, Filatova A, Tatarskiy E, Perelman G, Makretskaya N, Nagaeva E, Kareva M, Frolova E, Kalinchenko N, Tvorogova AV, Golyshev S, Burakov A, Tabakov V, Lozier E, Konovalov F, Voinova V, Tiulpakov A, and Skoblov M
- Abstract
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy., Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels., Materials and Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting. Translation efficiency was measured using a luciferase reporter assay. Overexpression experiments were performed in Hela cells with tubulin staining. Immunofluorescence analysis was used for Golgi complex assessment, while microtubule dynamics were studied post-nocodazole treatment. Electron microscopy facilitated ultrastructural studies., Results: We report seven patients with a novel, milder TBCE phenotype, presenting with amyotrophy, testicular failure, and mild intellectual disability, with or without short stature. All patients were homozygous or compound-heterozygous for the NM_003193.5:c.100+1G>A variant, which causes a splicing alteration and early frameshift. However, we found that the mild phenotype arises due to translation from an alternative open reading frame, producing a partially functional protein. Dermal fibroblasts showed reduced Golgi compactness but normal microtubule dynamics. Electron microscopy revealed varying levels of acto-myosin degradation. The c.100+1G>A variant was found to be 10 times more frequent in Slavic samples than in gnomAD, suggesting underdiagnosis of this phenotype., Conclusion: This study uncovers complex molecular mechanisms contributing to the milder phenotype in patients with the c.100+1G>A variant, providing insights into a new TBCE-related disorder., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com. See the journal About page for additional terms.)
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- 2024
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27. Bundesliga team values: Deciphering the impact of performance and economics.
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Ulas E and Deutscher C
- Subjects
- Humans, Soccer economics, Machine Learning, Germany, Athletic Performance economics, SARS-CoV-2, Pandemics economics, COVID-19 epidemiology, COVID-19 economics
- Abstract
Despite experiencing a dip during the COVID-19 pandemic, football remains a robust multi-billion-euro industry. The accurate prediction of team values holds immense significance for teams, investors, and other stakeholders. In this research, we delve into the determinants of German Bundesliga team values, encompassing performance-based metrics, macroeconomic indicators, and demographic statistics. Leveraging machine learning and dynamical linear methods, we construct a comprehensive model for Bundesliga team values. Our findings not only illuminate team performance on and off the field but also offer vital insights to guide decisions and navigate the complexities of the fiercely competitive football industry., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Ulas, Deutscher. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
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- 2024
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28. The effects of spondylodiscitis on the inflammation burden in infective endocarditis.
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Ulas E, Duffels M, Drexhage O, Germans T, Wagenaar J, and Umans V
- Abstract
Background: This study investigates the effects of spondylodiscitis on the inflammation burden in infective endocarditis patients., Methods: A prospective, observational study was conducted between September 2018 and October 2022 in a non-surgical teaching hospital. Patients with a definite or possible and treated as infective endocarditis were recruited from the Alkmaar Endocarditis Team meetings. Spondylodiscitis was diagnosed based on symptoms and radiological findings. The inflammation burden was defined as the area under the C‑reactive protein (CRP) curve., Results: 174 consecutive patients with infective endocarditis were included (mean age 73 years, 34.5% female). Concomitant spondylodiscitis was present in 32 patients (18%), frequently associated with Streptococcus species (38%). At admission, the mean level of CRP was significantly higher in patients with concomitant spondylodiscitis (p = 0.004). The median CRP area under the curve was significantly higher in spondylodiscitis patients (4.2 × 10
6 min.mg/l [1.2 × 105 - 1.6 × 107 min.mg/l] vs 2.0 × 106 min.mg/l [8.7 × 104 - 1.6 × 107 min.mg/l], p < 0.001). This difference remained during the whole treatment period. At 6 months of follow-up, rates of mortality and relapse of infective endocarditis were not significantly different., Conclusion: The prevalence of spondylodiscitis in non-referred patients with infective endocarditis was 18%. Endocarditis patients with spondylodiscitis had an increased inflammation burden at and during admission. This difference in normalisation of CRP levels was particularly apparent in the final phase of antibiotic treatment but not related to infectious complications. Despite an augmented inflammation burden, spondylodiscitis was not associated with mortality, cardiac surgery or infectious relapse., Competing Interests: Conflict of interest: E. Ulas, M. Duffels, O. Drexhage, T. Germans, J. Wagenaar and V. Umans declare that they have no competing interests., (© 2024. The Author(s).)- Published
- 2024
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29. MiRNA Dysregulation in Brain Injury: An In Silico Study to Clarify the Role of a MiRNA Set.
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Sessa F, Pomara C, Schembari F, Esposito M, Capasso E, Pesaresi M, Osuna E, Ulas E, Zammit C, and Salerno M
- Abstract
Background: The identification of specific circulating miRNAs has been proposed as a valuable tool for elucidating the pathophysiology of brain damage or injury and predicting patient outcomes., Objective: This study aims to apply several bioinformatic tools in order to clarify miRNA interactions with potential genes involved in brain injury, emphasizing the need of using a computational approach to determine the most likely correlations between miRNAs and target genes. Specifically, this study centers on elucidating the roles of miR-34b, miR-34c, miR-135a, miR-200c, and miR-451a., Methods: After a careful evaluation of different software available (analyzing the strengths and limitations), we applied three tools, one to perform an analysis of the validated targets (miRTarBase), and two to evaluate functional annotations (miRBase and TAM 2.0)., Results: Research findings indicate elevated levels of miR-135a and miR-34b in patients with traumatic brain injury (TBI) within the first day post-injury, while miR-200c and miR-34c were found to be upregulated after 7 days. Moreover, miR-451a and miR-135a were found overexpressed in the serum, while miRNAs 34b, 34c, and 200c, had lower serum levels at baseline post brain injury., Conclusion: This study emphasizes the use of computational methods in determining the most likely relationships between miRNAs and target genes by investigating several bioinformatic techniques to elucidate miRNA interactions with potential genes. Specifically, this study focuses on the functions of miR-34b, miR-34c, miR-135a, miR-200c, and miR-451a, providing an up-to-date overview and suggesting future research directions for identifying theranomiRNAs related to brain injury, both at the tissue and serum levels., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
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- 2024
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30. Child marriage and its association with Maternal Health Care Services utilisation among women aged 20-29: a multi-country study in the South Asia region.
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Kamal SMM and Ulas E
- Subjects
- Adult, Bangladesh, Child, Facilities and Services Utilization, Female, Humans, Maternal Health, Pregnancy, Prenatal Care, Socioeconomic Factors, Marriage, Maternal Health Services
- Abstract
Despite pervasiveness of child marriage in South Asian countries, its association with the usage of Maternal Health Care Services (MHCS) is poorly explored. In this study, we examined the impact of child marriage on MHCS utilisation among the prime reproductive aged women of five South Asian countries Afghanistan, Bangladesh, India, Nepal and Pakistan. Data for this study are extracted from the most recent Demographic and Health Surveys. The effect of child marriage on the use of MHCS was assessed by the multivariate logistic regression analysis. Findings reveal that in the South Asian region, the prevalence of child marriage is more common in Bangladesh, followed by Afghanistan, Nepal, India and Pakistan. Child marriage significantly ( p < .01) deters the usage of MHCS - at least once antenatal care (ANC) visit, at least four ANC visit, Institutional delivery and seeking assistance from skilled birth assistance (SBA), though the effect size was somewhat different across the countries. Findings stipulate to remain girls in schooling more and the marriage acts of the countries should be enacted properly to diminish child marriage not only for increasing MHCS use, also for individual wellbeing and overall development of each country.Impact Statement What is already known on this subject? Child marriage in South Asian countries is commonplace despite substantial improvements of socioeconomic status. Although child marriage have many adverse reproductive and health outcomes, empirical evidence and systematic studies, particularly the association of child marriage with the usage of Maternal Health Care Services (MHCS) in the South Asian women are few. What do the results of this study add? Findings of this study affirm that prevalence of child marriage in South Asian region is still common. Although every country has set out minimum age at first marriage by acts, the acts are poorly followed, which adversely impacts the usage of MHCS among married women. What are the implications of these findings for clinical practice and/or future research? The study findings provide important insights of the consequence of child marriage on the skilled MHCS utilisation. The marriage acts of the countries should be enacted properly to restrict child marriage not only for increasing MHCS, also for individual wellbeing and overall development of each country. Study has important implications for planners, organisation managers and policy makers.
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- 2022
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31. The association between marital violence and reproductive and sexual health outcomes of women: A multi-country study of South Asia.
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Kamal SMM and Ulas E
- Subjects
- Bangladesh epidemiology, Female, Humans, Outcome Assessment, Health Care, Pregnancy, Pregnancy, Unplanned, Violence, Sexual Behavior, Sexually Transmitted Diseases
- Abstract
In this study, we examined the relationship between marital violence(MV) and reproductive and sexual health outcomes of women of Bangladesh, India, Nepal and Pakistan. The lifetime MV inflicted by husbands on their wives was highest at 53% in Bangladesh, India(37%), Pakistan(28%) and Nepal(28%) respectively. Overall, our results in this study suggest that MV perpetrated by husbands on their wife is significantly associated with unintended pregnancy, pregnancy termination, current use of any modern contraceptive methods and sexually transmitted infections, but inconsistent associations are appeared across countries. Lifetime sexual violence and physical-sexual force were significantly and positively associated with unintended pregnancy and pregnancy termination respectively, whereas, all types of MV were significantly and positively related with the symptom of sexually transmitted diseases in the women. Appropriate measures should be undertaken to combat Violence against women(VAW) and necessary services should be provided to the victimized women to uphold their reproductive and sexual rights.
- Published
- 2022
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32. The effect of tumor size and metastatic extent on the efficacy of first line pembrolizumab monotherapy in patients with high PD-L1 expressing advanced NSCLC tumors.
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Schakenraad A, Hashemi S, Twisk J, Houda I, Ulas E, Daniels JMA, Veltman J, and Bahce I
- Subjects
- Antibodies, Monoclonal, Humanized, B7-H1 Antigen, Humans, Retrospective Studies, Carcinoma, Non-Small-Cell Lung drug therapy, Lung Neoplasms drug therapy
- Abstract
Background: Tumor size and metastatic extent may influence tumor response to immunotherapy in non-small cell lung cancer (NSCLC). The aim of this study was to examine the relationship between both baseline sum of longest diameters (bSLD) and number of metastatic organs (NMO) and the tumor response to pembrolizumab. Secondly, we aimed to analyze the association of baseline SLD and NMO with progression-free survival (PFS) and overall survival (OS)., Methods: This retrospective study included patients with high PD-L1 expressing tumors (≥50%) and a good performance score (ECOG ≤ 2) that received first-line pembrolizumab monotherapy. Tumor response was calculated as the 'SLD-change score' and 'early treatment discontinuation' within 3 months on therapy (ETD). The relationship of both bSLD (based on RECIST v1.1) and NMO with tumor response and survival outcome (PFS, OS) was evaluated., Results: No significant differences in SLD-change score could be found using bSLD (OR = 1.010, 95%CI = 0.999-1.021), or using NMO at baseline (OR = 1.608, 95%CI = 0.943-2.743). A bSLD cut-off value of 90 mm was found to be most distinctive for ETD. This cut-off value showed a significant difference for PFS (HR = 2.28, 95%CI = 1.12-4.64, p = 0.023) and OS (HR = 2.99, 95%CI = 1.41-6.34, p = 0.004). NMO also showed a difference for PFS and OS, however, not statistically significant., Conclusions: Tumor size and metastatic extent could not discriminate for tumor response, however, a bSLD of 90 mm could differentiate for PFS and OS., (Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2021
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33. Neoadjuvant immune checkpoint inhibitors in resectable non-small-cell lung cancer: a systematic review.
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Ulas EB, Dickhoff C, Schneiders FL, Senan S, and Bahce I
- Subjects
- Humans, Immune Checkpoint Inhibitors, Immunotherapy, Neoadjuvant Therapy, Carcinoma, Non-Small-Cell Lung drug therapy, Lung Neoplasms drug therapy
- Abstract
Background: The neoadjuvant use of immune checkpoint inhibitors (ICIs) in resectable non-small-cell lung cancer (NSCLC) is currently an area of active ongoing research. The place of neoadjuvant ICIs in the treatment guidelines needs to be determined. We carried out a systematic review of published data on neoadjuvant ICIs in resectable NSCLC to study its efficacy and safety., Patients and Methods: A literature search was carried out using the MEDLINE (PubMed) and Embase databases to retrieve articles and conference abstracts of clinical trials measuring the efficacy [major pathological response (MPR) and pathological complete response (pCR)] and safety (failure to undergo resection, surgical delay, treatment-related adverse events (trAEs) grade ≥3) of neoadjuvant immunotherapy in resectable NSCLC until July 2021., Results: Nineteen studies with a total of 1066 patients were included in this systematic review. Neoadjuvant immunotherapy was associated with improved pathological response rates, especially in combination with chemotherapy. Using mono ICI, dual therapy-ICI, chemoradiation-ICI, radiotherapy-ICI, and chemo-ICI, the MPR rates were 0%-45%, 50%, 73%, 53%, and 27%-86%, respectively. Regarding pCR, the rates were 7%-16%, 33%-38%, 27%, 27%, and 9%-63%, respectively. Safety endpoints using monotherapy-ICI, dual therapy-ICI, chemoradiation-ICI, radiotherapy-ICI, and chemo-ICI showed a failure to undergo resection in 0%-17%, 19%-33%, 8%, 13%, and 0%-46%, respectively. The trAEs grade ≥3 rates were 0%-20%, 10%-33%, 7%, 23%, and 0%-67%, respectively., Conclusion: In patients with resectable NSCLC stage, neoadjuvant immunotherapy can improve pathological response rates with acceptable toxicity. Further research is needed to identify patients who may benefit most from this approach, and adequately powered trials to establish clinically meaningful benefits are awaited., Competing Interests: Disclosure SS reports grants and personal fees from AstraZeneca; personal fees from MSD, BeiGene, and Celgene; grants and nonfinancial support from Varian Medical Systems; and grants from ViewRay Inc. IB reports grants from BMS and AstraZeneca. All other authors have declared no conflicts of interest., (Copyright © 2021 The Author(s). Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2021
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34. Examination of National Basketball Association (NBA) team values based on dynamic linear mixed models.
- Author
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Ulas E
- Subjects
- Humans, Linear Models, Athletic Performance economics, Basketball economics
- Abstract
In the last decade, NBA has grown into a billion-dollar industry where technology and advanced game plans play an essential role. Investors are interested in research examining the factors that can affect the team value. The aim of this research is to investigate the factors that affect the NBA team values. The value of a team can be influenced not only by performance-based variables, but also by macroeconomic indicators and demographic statistics. Data, analyzed in this study, contains of game statistics, economic variables and demographic statistics of the 30 teams in the NBA for the 2013-2020 seasons. Firstly, Pearson correlation test was implemented in order to identify the related variables. NBA teams' characteristics and similarities were assessed with Machine Learning techniques (K-means and Hierarchical clustering). Secondly, Ordinary linear regression (OLS), fixed effect and random effect models were implemented in the statistical analyses. The models were compared based on Akaike Information Criterion (AIC). Fixed effect model with one lag was found the most effective model and our model produced consistently good results with the R2 statistics of 0.974. In the final model, we found that the significant determinants of team value at the NBA team level are revenue, GDP, championship, population and key player. In contrast, the total number of turnovers has a negative impact on team value. These findings would be beneficial to coaches and managers to improve their strategies to increase their teams' value., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2021
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35. [Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations].
- Author
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Vorsanova SG, Iurov IIu, Voinova VIu, Kurinnaia OS, Zelenova MA, Demidova IA, Ulas EV, and Iurov IuB
- Subjects
- Adolescent, Child, Child, Preschool, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Variation, Humans, Karyotyping, Methyl-CpG-Binding Protein 2 metabolism, Oligonucleotide Array Sequence Analysis, Rett Syndrome diagnosis, Rett Syndrome metabolism, DNA genetics, Methyl-CpG-Binding Protein 2 genetics, Mutation, Rett Syndrome genetics
- Abstract
Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a special subtype of the disease, which appears as clinically milder than the classic form of disease. In one case, an atypical form of RTT was associated with genomic abnormalities affecting CDKL5 gene and region critical for microdeletion Prader-Willi and Angelman syndromes (15q11.2). In addition, data are presented for the first time that genetic variation in regions 3p13, 3q27.1, and 1q21.1-1q21.2 could associate with RTT-like clinical manifestations. Without application of molecular karyotyping technology and bioinformatic method of assessing the pathogenic significance of genomic rearrangements these RTT-like girls negative for MECP2 gene mutations were considered as cases of idiopathic mental retardation associated with autism. It should be noted that absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT. To avoid errors in the genetic diagnosis of this genetically heterogeneous brain disease molecular cytogenetic studies using high resolution oligonucleotide array CGH (molecular karyotyping) are needed.
- Published
- 2013
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