122 results on '"Ozlem Yalcin"'
Search Results
102. Corneal Limbal Sebaceous Adenoma
- Author
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Tok, Levent, primary, Tok, Ozlem Yalcin, additional, Argun, Mehmet, additional, Ciris, I. Metin, additional, Baspinar, Sirin, additional, and Gunes, Alime, additional
- Published
- 2014
- Full Text
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103. Giant cell tumour of the sixth cervical vertebrae with close relationship to the vertebral artery
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Orhan Sen, Levent Sener, M. Volkan Aydin, Ozlem Yalcin, Nebil Bal, and Bülent Erdoğan
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musculoskeletal diseases ,Adult ,medicine.medical_specialty ,Vertebral artery ,Giant cell tumours ,Outcome assessment ,Neurosurgical Procedures ,Physiology (medical) ,medicine.artery ,medicine ,Humans ,Vertebral Artery ,Spinal Neoplasms ,business.industry ,Giant Cell Tumors ,General Medicine ,Anatomy ,musculoskeletal system ,medicine.anatomical_structure ,Neurology ,Close relationship ,Giant cell ,Cervical Vertebrae ,Surgery ,Female ,Neurology (clinical) ,Radiology ,business ,Tomography, X-Ray Computed ,Vertebral column ,Cervical vertebrae - Abstract
Giant cell tumours of the vertebral column are rare and cervical vertebrae involvement is even less common. As these lesions may be closely related to the vertebral artery, therapeutic decision-making may be complex. Reviewing the literature, we found that there was no consensus on treatment or outcome assessment for these rare and difficult lesions. We present a case of a giant cell tumour of the sixth cervical vertebrae involving the posterior elements, neural foramina and transverse foramina and closely related to the vertebral artery. Radiological evaluation and therapeutic solutions are also discussed.
- Published
- 2003
104. Can white blood cell activation be one of the major factors that affect hemorheological parameters during and after exercise?
- Author
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Aysegul, Temiz, Ozlem, Yalcin, Halil, Resmi, and Oguz K, Baskurt
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Chemotaxis, Leukocyte ,Oxidative Stress ,Hemorheology ,Leukocytes ,Humans ,Exercise - Published
- 2002
105. Managing Evidence-Based Research Processes with Systematic Review and Bibliometric Analysis Methods in Covid-19 Pandemic
- Author
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Kübra ZAYİM GEDİK, Özlem YALÇINKAYA, and Bahattin YALÇINKAYA
- Subjects
systematic review ,meta-analysis ,bibliometry ,research design ,covid-19 ,pandemic ,Medicine (General) ,R5-920 - Abstract
Objective:This article aims to analyze different approaches to a literature review. The publications in the pandemic period were examined by bibliometric analysis method within the framework of systematic review and determined criteria.Methods:Between 01.01.2020 and 07.06.2020, research on pandemics in WOS and Scopus platforms has been examined with a comprehensive literature study. The first aim of the study is to reveal the quality of the literature research. Another goal is to analyze the results with certain criteria. The bibliometric analysis method was used to analyze the results of the research.Results:With the determined research strategy, the publications belonging to the pandemic period were analyzed comparatively with charts and tables in WOS and Scopus platforms such as country, type of publication, institution, subject area, author, the most cited publication, and the most published journals.Conclusion: Within the framework of bibliometric analysis, it is one of the top contributors in the process with the highest number of publications in the US pandemic process. Although there is no direct relationship between the intensity of spreading of the pandemic and the publications produced, these two processes have proceeded almost parallel to each other. It has been determined that evidencethe most broadcasting institutions are universities in the USA. In this process, it was seen that most of the articles were published in order to ensure the rapid dissemination of scientific information. In the fight against epidemic, it has been observed that quite a lot of publications have been produced in the field of medicine on both platforms.
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- 2020
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106. Red blood cell rheological properties in various rat hypertension models
- Author
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Gulay, Hacioglu, Ozlem, Yalcin, Melek, Bor-Kucukatay, Gul, Ozkaya, and Oguz K, Baskurt
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Male ,Disease Models, Animal ,Hypertension, Renal ,Hypertension, Renovascular ,NG-Nitroarginine Methyl Ester ,Platelet Aggregation ,Hemorheology ,Hypertension ,Animals ,Blood Pressure ,Aorta, Abdominal ,Desoxycorticosterone ,Rats - Abstract
Red blood cell (RBC) properties were proposed to play role in the development of hypertension (HT). This study aimed at investigating the alterations of RBC deformability and aggregation, in various models of HT in rats. The following four models of HT were developed in rats: one kidney-one clip HT (1K-1C HT), two kidney-one clip HT (2K-1C HT), deoxycorticosterone acetate (DOCA) induced HT (15 mg/kg, 2 times/week, sc) and N-nitro L-arginine methyl ester (L-NAME) induced HT (50 mg/kg/day, 10 weeks, ip). The blood samples were obtained from abdominal aorta, under ether anesthesia, after a period of 10 weeks of increased blood pressure. RBC deformability was determined by ektacytometry. RBC aggregation was measured in autologous plasma and 0.5% dextran 500, using a photometric rheoscope. Plasma fibrinogen concentration was determined by Clauss method. The mean blood pressure in all four HT models were about 140 mmHg, on the day of sampling, compared to approximately 110 mmHg in the control group. RBC deformability was found to be significantly decreased in the L-NAME model of HT. RBC aggregation in autologous plasma was significantly higher than control in 2K-1C, L-NAME and DOCA models, DOCA HT model being the most effective in altering the RBC aggregation. Plasma fibrinogen values were found to be higher than control in 2K-1C and L-NAME HT models, but not in DOCA HT. These results confirm that RBC rheological properties might be altered in HT. It can also be suggested that these alternations may not simply be the result of the vascular effects of HT, but may play role in the development of HT, as the alterations in different HT models were not the same, although the length and magnitude of increased blood pressure were similar.
- Published
- 2002
107. Exercise-induced oxidative stress affects erythrocytes in sedentary rats but not exercise-trained rats
- Author
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Mehmet Aktekin, Oguz K. Baskurt, Oktay Kuru, Ümit Kemal Şentürk, Akin Yesilkaya, Filiz Gündüz, Ozlem Yalcin, Melek Bor-Kucukatay, and Dijle Kipmen
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Male ,medicine.medical_specialty ,Erythrocytes ,Physiology ,Physical Exertion ,Physical exercise ,Ascorbic Acid ,Hemolysis ,Thiobarbituric Acid Reactive Substances ,Methemoglobin ,Antioxidants ,Lipid peroxidation ,chemistry.chemical_compound ,Physiology (medical) ,Internal medicine ,Erythrocyte Deformability ,Physical Conditioning, Animal ,medicine ,TBARS ,Erythrocyte deformability ,Animals ,Vitamin E ,Rats, Wistar ,computer.programming_language ,sed ,Chemistry ,Body Weight ,Erythrocyte fragility ,Hydrogen Peroxide ,Organ Size ,Ascorbic acid ,Oxidants ,Rats ,Osmotic Fragility ,Oxidative Stress ,Endocrinology ,Biochemistry ,computer - Abstract
Oxidant stress is one of the factors proposed to be responsible for damaged erythrocytes observed during and after exercise. The impact of exertional oxidant stress after acute exhaustive treadmill running on erythrocyte damage was investigated in sedentary (Sed) and exercise-trained (ET) rats treated with or without antioxidant vitamins C and E. Exhaustive exercise led to statistically significant increments in the levels of thiobarbituric acid-reactive substance (TBARS) and H2O2-induced TBARS in Sed rats and resulted in functional and structural alterations in erythrocytes (plasma hemoglobin concentrations, methemoglobin levels, and rise in osmotic fragility of erythrocytes with decrease in erythrocyte deformability). Administration of antioxidant vitamin for 1 mo before exhaustive exercises prevented lipid peroxidation (TBARS, H2O2-induced TBARS) in Sed rats without any functional or structural alterations in erythrocytes. Parameters indicating erythrocyte lipid peroxidation and deterioration after exhaustive exercise in rats trained regularly with treadmill running for 1 mo were not different from those in Sed controls. Erythrocyte lipid peroxidation (TBARS) increased in exhausted-ET rats compared with ET controls; however, the plasma hemoglobin, methemoglobin levels, and erythrocyte osmotic fragility and deformability did not differ. Exhaustive exercise-induced lipid peroxidation in ET rats on antioxidant vitamin treatment was prevented, whereas functional and structural parameters of erythrocytes were not different from those of the ET controls. We conclude that exertional oxidant stress contributed to erythrocyte deterioration due to exercise in Sed but not in ET rats.
- Published
- 2001
108. Subject Index Vol. 222, 2008
- Author
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C. Kloos, U.A. Müller, M. Blum, Gul Ergun, Sybille Schrey, Jinghai Li, S. Colombati, Franz Grehn, Levent Akduman, S.Z. Scalinci, Yi-Hao Chen, Zhenying Cheng, L. Scorolli, Kevin Taliaferro, Thomas Klink, Jiann-Torng Chen, Jost B. Jonas, Da-Wen Lu, Ayşe Burcu Nurözler, Sunay Duman, M. Morara, Uta Elsesser, Jian-Nan Wu, Ozlem Yalcin Tok, P. Greco, R.E. Nacke, Ya Xing Wang, P.M. Leiva, Hae Jung Paik, Gregor P. Jaggi, Hyun Seung Moon, Dong Heun Nam, W. Hunger-Dathe, Xiaoyi Xu, Janine Klink, Deborah J. Lapolice, S. Günther, Jagdeep Singh Gandhi, Carsten H. Meyer, Günther Schlunck, A. Meduri, Lihua Wang, Zhaoqiang Liu, Fang Zhou, Liang Xu, E.I. Akduman, Fatma Akbas Kocaoglu, Hanspeter E. Killer, F. Wang, R.A. Meduri, Yi Bin Li, and Hee Jin Sohn
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Ophthalmology ,Index (economics) ,Statistics ,Subject (documents) ,General Medicine ,Sensory Systems ,Mathematics - Published
- 2008
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109. A Common VWF Exon 28 Haplotype in the Turkish Population
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Berber, Ergul, primary, Pehlevan, Funda, additional, Akin, Mehmet, additional, Capan, Ozlem Yalcin, additional, Kavakli, Kaan, additional, and Çaglayan, S. Hande, additional
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- 2012
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110. The Effects of Irisin on Nω-Nitro-L-arginine Methyl Ester Hydrochloride-Induced Hypertension in Rats
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Nurettin Aydoğdu, Özlem Yalçınkaya Yavuz, Ebru Taştekin, Pınar Tayfur, Oktay Kaya, and Nihayet Kandemir
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hypertension ,irisin ,kidney ,nitric oxide ,oxidative stress ,rats ,Medicine - Abstract
Background: The cause of about 95% of hypertension, an important public health problem, is unknown. Intensive studies are underway to understand the physiopathology of hypertension. Irisin, a newly discovered hormone, has been reported to dilate vascular smooth muscle and lower blood pressure acutely. Aims: To investigate the effects of chronic irisin treatment on blood pressure and renal functions in a hypertension model established by nitric oxide synthase inhibition by treatment with Nω-nitro-L-arginine methyl ester hydrochloride. Study Design: Animal experimentation. Methods: Male Sprague−Dawley rats were divided into four groups (n=8). Control and irisin groups received an intravenous saline injection, hypertension and hypertension + irisin (hypertension + irisin) groups received 1.5 mg/100 g Nω-nitro-L-arginine methyl ester hydrochloride. Nω-nitro-L-arginine methyl ester hydrochloride (150 mg/L) was added to the drinking water of rats in groups hypertension and hypertension + irisin for three weeks. In the second week of the experiment, irisin (50 nmol/day) was given to rats in groups irisin and hypertension + irisin, and saline was administered to rats in groups control and hypertension for two weeks through subcutaneously placed osmotic minipumps. Blood pressure was measured by the tail-cuff plethysmography method. On the twenty-first day of the experiment, 24-hour urine, blood, and both kidneys of the rats were collected. Results: The hypertension group had elevated systolic, diastolic, and mean arterial blood pressure values compared with the control group, with decreased glutathione levels in tissue and serum, but an increase in serum oxidized glutathione level (p
- Published
- 2019
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111. Rotational Thromboelastometry Reveals Distinct Coagulation Profiles for Patients With COVID-19 Depending on Disease Severity
- Author
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Mehmet Gökhan Gönenli MD, Zeynep Komesli MD, Said İncir MD, Özlem Yalçın PhD, and Olga Meltem Akay MD
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Identifying a hypercoagulable state in patients with COVID-19 may help identify those at risk for virus–induced thromboembolic events and improve clinical outcomes using personalized therapeutic approaches. Herein, we aimed to perform a global assessment of the patients’ hemostatic system with COVID-19 using rotational thromboelastometry (ROTEM) and to describe whether patients with different disease severities present different coagulation profiles. Together with 37 healthy volunteers, a total of 65 patients were included and then classified as having mild, moderate, and severe disease depending on clinical severity. Peripheral blood samples were collected and analyzed using a ROTEM Coagulation Analyzer. Also, complete blood count and coagulation parameters including prothrombin time, activated partial thromboplastin time, fibrinogen levels, and D-dimer levels were measured at admission. EXTEM and INTEM MCF ( P < 0.001) values were significantly higher and the EXTEM CFT ( P = 0.002) value was significantly lower in patients with COVID-19 when compared with controls. In particular, patients with the severe disease showed a significant decrease in CFT ( P < 0.001) and an increase in MCF ( P < 0.001) in both INTEM and EXTEM assays compared with patients with the non-severe disease. Correlation analysis revealed significant correlations between ROTEM parameters and other coagulation parameters. There were significant positive correlations between fibrinogen, D-dimer, platelet count, and MCF in both EXTEM and INTEM assays. Our data demonstrate thromboelastographic signs of hypercoagulability in patients with COVID-19, which is more pronounced in patients with increased disease severity. Therefore, ROTEM analysis can classify subsets of patients with COVID-19 at significant thrombotic risk and assist in clinical decisions.
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- 2021
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112. Ophthalmologica at a Glance
- Author
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Kevin Taliaferro, Jost B. Jonas, L. Scorolli, Gregor P. Jaggi, C. Kloos, Zhaoqiang Liu, Hee Jin Sohn, R.E. Nacke, M. Morara, Uta Elsesser, P.M. Leiva, Fang Zhou, E.I. Akduman, M. Blum, F. Wang, Gul Ergun, S. Günther, Jagdeep Singh Gandhi, Carsten H. Meyer, Ya Xing Wang, Lihua Wang, R.A. Meduri, Hae Jung Paik, Franz Grehn, U.A. Müller, Günther Schlunck, S. Colombati, Jiann-Torng Chen, Ozlem Yalcin Tok, Ayşe Burcu Nurözler, S.Z. Scalinci, Sybille Schrey, Yi Bin Li, Hanspeter E. Killer, Jinghai Li, Levent Akduman, Da-Wen Lu, A. Meduri, Deborah J. Lapolice, Liang Xu, Fatma Akbas Kocaoglu, Zhenying Cheng, Thomas Klink, Hyun Seung Moon, W. Hunger-Dathe, Dong Heun Nam, Xiaoyi Xu, Yi-Hao Chen, Sunay Duman, Jian-Nan Wu, P. Greco, and Janine Klink
- Subjects
Ophthalmology ,General Medicine ,Sensory Systems - Published
- 2008
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113. Treatment of ligneous conjunctivitis with amniotic membrane transplantation and topical cyclosporine.
- Author
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Tok, Ozlem Yalcin, Kocaoglu, Fatma Akbas, Tok, Levent, Burcu, Ayse, and Ornek, Firdevs
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CONVERGENT strabismus ,CYCLOSPORINE ,AMNION ,CHRONIC diseases ,CONJUNCTIVA diseases ,DISEASE relapse ,HISTOLOGY ,THERAPEUTICS ,TRANSPLANTATION of organs, tissues, etc. - Abstract
Ligneous conjunctivitis (LC) is a rare form of bilateral chronic recurrent disease in which thick membranes form on the palpebral conjunctiva and other mucosal sites. We report the clinical features and describe the management of two cases. Case 1 was an 8-month-old patient with bilateral membranous conjunctivitis. Case 2 was a 5-year-old patient with unilateral membranous conjunctivitis, esotropia, mechanical ptosis and complicated cataract, and had been treated with a number of medications. Histological investigation of the membrane in both cases showed LC. Treatments with amniotic membrane transplantation and institution of topical cyclosporine have shown good response. There has been complete resolution of the membranes with no recurrence at the end of 40- and 28-month follow-ups, respectively. No treatment related side effects were seen. Thus, it appears that amniotic membrane transplantation and topical cyclosporine are effective alternatives for the treatment of LC. [ABSTRACT FROM AUTHOR]
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- 2012
- Full Text
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114. Prognostic Factors Influencing Final Visual Acuity in Open Globe Injuries.
- Author
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Tök, Ozlem Yalcin, Tok, Levent, Eraslan, Elif, Ozkaya, Dilek, Ornek, Firdevs, and Bardak, Yavuz
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- 2011
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115. The Effect of Small Changes in Hematocrit on Nitric Oxide Transport in Arterioles.
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Krishna Sriram, Beatriz Y. Salazar Vázquez, Ozlem Yalcin, Paul C. Johnson, Marcos Intaglietta, and Daniel M. Tartakovsky
- Published
- 2011
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116. The Effects of Baicalin on Myoglobinuric Acute Renal Failure in Rats
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Özlem Yalçınkaya Yavuz, Nurettin Aydoğdu, Ebru Taştekin, and Necdet Süt
- Subjects
Baicalin ,acute kidney injury ,free radicals ,nitric oxide ,nitric oxide synthase ,Medicine - Abstract
Background: Myoglobinuric acute kidney injury is a uremic syndrome that develops due to damage of skeletal muscle. Free radicals and nitric oxide play an important role in the pathogenesis of myoglobinuric acute kidney injury. Baicalin has multiple bioactivities, including antimicrobial, anti-inflammatory and antioxidant properties and is a potent free radical scavenger. Aims: To investigate the nephroprotective mechanism of baicalin on myoglobinuric acute kidney injury. Study Design: Animal experimentation. Methods: In our study, male Sprague Dawley rats were divided into 4 groups. Control (n=8), Baicalin (n=8), myoglobinuric acute kidney injury (n=10) and myoglobinuric acute kidney injury + baicalin (n=10). The rats were deprived of water for 24 hours before receiving intramuscular injection. The control and baicalin groups were injected intramuscularly with saline (8 ml/kg), and the myoglobinuric acute kidney injury and myoglobinuric acute kidney injury + baicalin groups were given 50% glycerol 8 ml/kg. One hour later, the control and myoglobinuric acute kidney injury groups received saline intraperitoneally, and the baicalin and myoglobinuric acute kidney injury + baicalin groups were given 200 mg/kg baicalin. Twenty-four hours after the glycerol injection, urine and blood samples were taken, and the kidneys of the rats were harvested under intraperitoneally injections of anaesthesia. Results: We found that the levels of creatinine, urea, nitric oxide, alanine transaminase, aspartate aminotransferase, creatine kinase in serum samples, malondialdehyde, nitric oxide, inducible nitric oxide synthase, and endothelial nitric oxide synthase concentrations in renal tissue were increased in the myoglobinuric acute kidney injury group compared with the control group (p
- Published
- 2018
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117. The Role of Potassium Channels in Relaxant Effect of Levosimendan in Rat Small Mesenteric Arteries.
- Author
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Sadi Ozdem, Ozlem Yalcin, Herbert Meiselman, Oguz Baskurt, and Coskun Usta
- Subjects
MESENTERIC artery ,POTASSIUM channels ,ARTERIES ,ION channels - Abstract
We investigated both the effect of levosimendan and the role of various potassium channels in KCl-precontracted rat small mesenteric arteries. Levosimendan (10
−6 −10−3 M) or cromakalim (CRO, 10−7 −10−4 M) produced concentration-dependent relaxation responses in small mesenteric arteries precontracted by 30 mM KCl. The relaxant responses to levosimendan in KCl-precontracted arteries did not differ significantly between endothelium-intact and endothelium-denuded preparations. Incubation of rat small mesenteric arterial segments with ATP-dependent potassium channel (KATP) blocker glibenclamide (GLI, 10−6 M) for 30 min significantly inhibited the relaxant responses to both levosimendan and CRO. Neither the Ca2+ -activated potassium channel (KCa) blocker iberiotoxin (10−7 M) nor the voltage-dependent potassium channel (KV) blocker 4-aminopyridine (5 mM) incubation for 30 min caused significant alterations in relaxant responses to levosimendan in KCl-precontracted small mesenteric arteries. These findings suggested that levosimendan-induced relaxation responses in isolated rat small mesenteric arteries were neither depended on endothelium nor inhibited by the blockers of KV or KCa but, they rather seem to depend on the activation of KATP. [ABSTRACT FROM AUTHOR]- Published
- 2006
118. Evaluation of Intranasal Ostium in External Dacryocystorhinostomy
- Author
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Özlem Yalçın Tök, Fatma Akbaş Kocaoğlu, İlhan Ünlü, M. Necati Demir, Uğur Koşar, and Firdevs Örnek
- Subjects
External dacryocystorhinostomy ,intranasal ostium ,rhinostomy ,endonasal dacryocystorhinostomy ,Medicine - Abstract
Objective: The investigation of factors affecting the dimension and configuration of the intranasal ostium in successful external dacryocystorhinostomy (DCR). Material and Methods: Fifty-one patients were enrolled within this study. During operation, dimensions of bone window were measured. In the postoperative sixth month, changes in bone window size were evaluated using spiral paranasal tomography, and the intranasal ostium was examined with nasal endoscopy. Results: There were 19 patients who underwent DCR and 32 patients who underwent DCR+silicone tube intubations (SI). The mean bone window size was 214.37 mm2 during operation and 214.87 mm2 after six months. The mean intranasal ostium size was measured as 51.42 mm2 for patients who had undergone DCR and 28.66 mm2 for the DCR+SI cases. The endoscopic appearance of the ostium was observed as oval or round for the DCR cases and in slit form for the DCR+SI cases. A multiple logistic regression model showed that silicon tube intubation posed an 11 times greater risk for configuration distortion in the intranasal ostium (p=0.0079).Conclusion: Postoperative intranasal ostium size has a relation with the intraoperative bone window size. The difference of mean intranasal ostium sizes of DCR and DCR+SI cases was not statistically significant. However, because SI gives rise to ostium configuration by triggering fibrosis, it should not be carried out unless absolutely necessary.
- Published
- 2011
119. Pachydermoperiostosis as a Rare Cause of Blepharoptosis
- Author
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Özlem Yalçın Tök, Levent Tök, M. Necati Demir, Sabite Kaçar, Elif Nisa Ünlü, and Firdevs Örnek
- Subjects
Pachydermoperiostosis ,primary hypertrophic osteoarthropathy ,ptosis ,Medicine ,Ophthalmology ,RE1-994 - Abstract
A 37-year-old male patient diagnosed with pachydermoperiostosis at another center came to our clinic to rectify his blepharoptosis. The physical examination of the patient revealed skeleton and skin symptoms typical for pachydermoperiostosis. There was thickening and extending horizontal length of the eyelids, an S-shaped deformity on the edges of the eyelids, and symmetric bilateral mechanical blepharoptosis. In order to treat the blepharoptosis, excision of the thickened skin and the orbicular muscle as well as levator aponeurosis surgery was performed. The esthetic result was satisfactory. Pachydermoperiostosis is a rare cause of blepharoptosis. Meibomius gland hyperplasia, increase of collagen substance in the dermis, mucin accumulation are reasons of thickening the eyelid and finally this causes the development of mecanical blepharoptosis. Even though many two or three phased surgical procedures can be applied to these cases, satisfactory results can be achieved with levator surgery and excision of the thickened skin and the orbicular muscle as well. (Turk J Ophthalmol 2014; 44: 416-8)
- Published
- 2014
- Full Text
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120. A novel microfluidics-based point of care technique for viscoelastic hemostatic assay
- Author
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Ozlem Yalcin, Erten, Ahmet Can, Torun, Berfin Irmak, and Oz, Fatma
121. A Case Report: Osteoid Osteoma as Cause of Back Pain - Case Report
- Author
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Berrin Leblebici, Mehmet Adam, Özlem Yalçın, and Bahadır Yesevi
- Subjects
Diabetes mellitus ,osteoporosis ,Medicine ,Other systems of medicine ,RZ201-999 - Abstract
Osteoid osteoma is a benign bone tumour which usually determined at the lower extremity long bones diaphysis in childhood and adolescence. Vertebral involvement is seen in 10-25% of cases. Most patients have localize pain, especially at night and pain is nonresponsive to conservative treatment. It can be diagnosed small radiolucence nidus that surrounding reactive bone sclerosis by radiography. Spontaneous improvement is usually expected with long time antiinflamatory therapy. Surgery is indicated if conservative treatment is not succesful. In this paper, 25 age of years female who diagnosed osteoid osteoma with vertebral arch involvement was presented.(Osteoporoz Dünyasından 2005; 4: 159-161)
- Published
- 2005
122. SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
- Author
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Dilsad Turkdogan, Bülent Kara, Aslı Gündoğdu Eken, Seda Salar, Betül Baykan, Uluç Yiş, Mutluay Arslan, Sunay Usluer, Cihan Meral, S. Hande Çağlayan, Nerses Bebek, Özlem Yalçın Çapan, Pinar Tekturk, Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yis, Uluc, Kara, Bulent, Tekturk, Pinar, Baykan, Betul, Meral, Cihan, Turkdogan, Dilsad, Bebek, Nerses, Capan, Ozlem Yalcin, Eken, Asli Gundogdu, and Caglayan, S. Hande
- Subjects
GEFS+ ,0301 basic medicine ,Male ,Turkey ,DNA Mutational Analysis ,GEFS ,FEBRILE SEIZURES PLUS ,GENERALIZED EPILEPSY ,Epilepsies, Myoclonic ,Biology ,SUDDEN UNEXPECTED DEATH ,Epileptic Encephalopathy ,Seizures, Febrile ,03 medical and health sciences ,Exon ,symbols.namesake ,0302 clinical medicine ,Dravet syndrome ,SCN1A Mutation ,medicine ,Missense mutation ,Humans ,Gene ,Genetics ,Sanger sequencing ,SPECTRUM ,Massive parallel sequencing ,Epilepsy ,SEVERE MYOCLONIC EPILEPSY ,Dravet Syndrome ,Point mutation ,Infant, Newborn ,Infant ,General Medicine ,medicine.disease ,Phenotype ,PREVALENCE ,GENOTYPE ,NAV1.1 Voltage-Gated Sodium Channel ,030104 developmental biology ,Neurology ,Child, Preschool ,symbols ,Epilepsy, Generalized ,Female ,Neurology (clinical) ,030217 neurology & neurosurgery - Abstract
Yalçın Çapan, Özlem (Arel Author), Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotypephenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the relationship between the SCN1A sequence alterations and disease phenotypes such as GEFS+, DS and related epileptic encephalopathies. Methods: Mutational analysis of the SCN1A gene was carried out in 46 patients with DS, late-onset DS, GEFS+ and unspecified EE using either direct Sanger sequencing of the coding regions and exon/intron boundaries or massively parallel sequencing. Results: Nineteen point mutations, 12 of which were novel were identified, confirming the clinical diagnosis of the patients. Patients with a mutation (either truncating or missense) on linker regions had significantly later disease onset than patients with mutations in homology regions. The presence of SCN1A mutations in two clinically unclassified patients supported the association of SCN1A mutations with a wide range of phenotypes. Conclusion: The conventional Sanger sequencing method was successfully initiated for the detection of SCN1A point mutations in Turkey in epilepsy patients. Furthermore, a modified strategy of massively parallel pyro-sequencing was also established as a rapid and effective mutation detection method for large genes as SCN1A.
- Published
- 2016
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