15 results on '"Çetin, Kürşat"'
Search Results
2. The Prognosis of Idiopathic Premature Ventricular Beats in Children with Structurally Normal Hearts.
- Author
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Çetin, Kürşat, Ekici, Filiz, Kardelen, Fırat, Bulut, Muhammet, and Akbay, Şenay
- Subjects
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PEARSON correlation (Statistics) , *DATA analysis , *T-test (Statistics) , *BUNDLE-branch block , *FISHER exact test , *RETROSPECTIVE studies , *DESCRIPTIVE statistics , *CHI-squared test , *MANN Whitney U Test , *AMBULATORY electrocardiography , *ARRHYTHMIA , *VENTRICULAR tachycardia , *MEDICAL records , *ACQUISITION of data , *STATISTICS , *ANALYSIS of variance , *DATA analysis software , *HEART ventricles , *DISEASE progression , *ADOLESCENCE , *CHILDREN - Abstract
Objective: The objective of this study is to evaluate the prognosis of idiopathic premature ventricular beats (PVBs) in children. Materials and Methods: We retrospectively evaluated 73 children (<18 years old) with idiopathic PVBs and structurally normal hearts. All patients were evaluated by 24-hour Holter electrocardiography (ECG) and echocardiography at the first admission and followed with a mean of 27 ± 7.6 months after diagnosis. Baseline Holter ECG and echocardiographic findings were compared to the last visit. Results: The mean age of the patients was 11.1 ± 4.8 years, and half were symptomatic at initial examination. Baseline Holter showed complex beats in 35 cases, non-sustained ventricular tachycardia in 7 cases, and frequent PVBs in 19 cases. Complete recovery (CR) of PVBs was observed in 37 cases (50.7%) at a median of 15 (minimum: 5, maximum: 33) months after diagnosis. There were no significant differences in CR rates between patient groups with left bundle branch block (LBBB) vs. right bundle branch block (RBBB) morphology of PVBs, simple vs. complex PVBs, and daytime vs. nighttime dominance of PVBs (P > .05 for all parameters). The CR rate of PVBs was different among patients with infrequent, moderate, and frequent PVBs (62.8%, 36.4%, and 31.6%, respectively). Premature ventricular beats disappeared more often during follow-up in patients with infrequent PVBs (P = .045). However, the absolute decrease and disappearance rates of PVBs were similar across all groups (72.1%, 81.8%, and 89.5%, respectively; P = .319). The resolution rates of PVBs were not statistically different between the patient group who received pharmacological treatment and the group who followed up without treatment (P = .070). No myocardial dysfunction was observed in any patient during follow-up. No cases experienced major cardiac events. Conclusion: Idiopathic PVBs usually regress in childhood regardless of frequency and complexity or receiving antiarrhythmic medication. The risk of ventricular dysfunction is low during childhood; however, they require careful evaluation and follow-up. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
3. Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.
- Author
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Çetiner, Ebru Barsal, Donbaloğlu, Zeynep, Singin, Berna, Behram, Bilge Aydın, Çetin, Kürşat, Karagüzel, Güngör, Tuhan, Hale, and Parlak, Mesut
- Subjects
GONADAL dysgenesis ,BODY mass index ,HUMAN growth ,RETROSPECTIVE studies ,DESCRIPTIVE statistics ,STATURE ,KARYOTYPES ,VIRILISM ,MEDICAL records ,ACQUISITION of data ,DWARFISM ,HORMONE therapy ,INDIVIDUALIZED medicine ,EARLY diagnosis ,DATA analysis software ,SOMATOMEDIN ,PATIENT aftercare ,HUMAN growth hormone ,HEALTH care teams ,AMENORRHEA ,PHENOTYPES ,ASSIGNED gender ,SYMPTOMS - Abstract
Objective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal dysgenesis, which has not yet been sufficiently defined. Materials and Methods: Data from 10 patients diagnosed with mixed gonadal dysgenesis were retrospectively reviewed. Clinical presentations, complaints at admission, imaging, genetic results, and treatments received by the patients were examined. Gonadal status and the gender of the patients were reared and evaluated by a multidisciplinary council decision. If received, growth hormone treatment doses and height gains were examined. Results: The patients’ ages at admission range from 6 months to 17.5 years. The median height SDS of the patients was −0.75 (2.73), the mean body weight SDS was −0.49 (±1.46), and the mean body mass index (BMI) SDS was 0.26 (±0.97). The complaints at admission varied, including ambiguous genitalia, short stature, and absence of menstruation. Some patients are completely in the female phenotype, while some are inadequately virilized male phenotype. External Masculinization Score (EMS) ranges from 1 to 6.5. The decision to raise 6 patients as female and 4 patients as male was made by a multidisciplinary council. Growth hormone treatment was administered to patients raised as female and diagnosed with short stature. The height SDS gain in treated patients was 0.42 (±0.49). Conclusion: Due to its rarity and varied clinical presentation, our knowledge about mixed gonadal dysgenesis is limited. Therefore, early diagnosis and individualized treatment plans are crucial for this patient group. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
4. Direct transcatheter aortic valve implantation (TAVI) decreases silent cerebral infarction when compared to routine balloon valvuloplasty
- Author
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Uğur ARSLAN, Güney Erdoğan, Mustafa Yenerçağ, Gökhan Aksan, Melisa Uçar, Selim Görgün, Çetin Kürşat Akpınar, Onur Öztürk, Osman Can Yontar, and Ahmet Karagöz
- Abstract
Purpose: Silent cerebral infarctions (SCI), as determined by neuron-specific enolase (NSE) elevations, may develop after the transcatheter aortic valve implantation (TAVI) procedure. Our aim in this study was to compare the SCI rates between patients who underwent routine pre-dilatation balloon aortic valvuloplasty (pre-BAV) and patients who underwent direct TAVI without pre-BAV. Methods: A total of 139 consecutive patients who underwent TAVI in a single center using the self-expandable Evolut-R valve (Medtronic, Minneapolis, Minnesota, USA) were included in the study. The first 70 patients were included in the pre-BAV group, and the last 69 patients were included in the direct TAVI group. SCI was detected by serum NSE measurements performed at baseline and 12 h after the TAVI. New NSE elevations > 12 ng/mL after the procedure were counted as SCI. In addition, SCI was scanned by MRI (magnetic resonance imaging) in eligible patients. Results: TAVI procedure was successful in all of the study population. Post-dilatation rates were higher in the direct TAVI group. Post-TAVI NSE positivity (SCI) was higher in the routine pre-BAV group (55(78.6%) vs. 43(62.3%) patients, p=0.036) and NSE levels were also higher in this group (26.8 ± 15.0 vs. 20.5 ± 14.8 ng/ml, p=0.015). SCI with MRI was found to be significantly higher in the pre-BAV group than direct TAVI group (39(55.1%) vs. 31(44.9%) patients). The presence of atrial fibrillation and diabetes mellitus (DM), total cusp calcification volume, calcification at arcus aorta, routine pre-BAV and failure at first try of the prosthetic valve implantation were significantly higher in SCI (+) group. In the multivariate analysis, presence of DM, total cusp calcification volume, calcification at arcus aorta, routine pre-BAV and failure at first try of the prosthetic valve implantation were significantly associated with new SCI development. Conclusions: Direct TAVI procedure without pre-dilation seems to be an effective method and avoidance of pre-dilation decreases the risk of SCI development in patients undergoing TAVI with a self-expandable valve.
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- 2022
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5. Direct transcatheter aortic valve implantation (TAVI) decreases silent cerebral infarction when compared to routine balloon valvuloplasty
- Author
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ARSLAN, Uğur, primary, Erdoğan, Güney, additional, Yenerçağ, Mustafa, additional, Aksan, Gökhan, additional, Uçar, Melisa, additional, Görgün, Selim, additional, Akpınar, Çetin Kürşat, additional, Öztürk, Onur, additional, Yontar, Osman Can, additional, and Karagöz, Ahmet, additional
- Published
- 2022
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6. Evaluation of P-wave dispersion in patients with newly diagnosed coronavirus disease 2019
- Author
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Çetin Kürşat Akpınar, Ahmet Şen, Cagatay Erman Ozturk, Mustafa Yenerçağ, Seçkin Dereli, Onur Osman Seker, Ahmet Kaya, Mustafa Dogdus, and Uğur Arslan
- Subjects
medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Cross-sectional study ,Atrial fibrillation ,Retrospective cohort study ,General Medicine ,030204 cardiovascular system & hematology ,medicine.disease ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Predictive value of tests ,Internal medicine ,White blood cell ,Heart rate ,medicine ,030212 general & internal medicine ,Cardiology and Cardiovascular Medicine ,Risk assessment ,business ,Electrocardiography - Abstract
INTRODUCTION: The severe acute respiratory syndrome-coronavirus-2 causing coronavirus disease 2019 (COVID-19) has reached pandemic levels since March 2020. COVID-19 has been associated with a number of cardiovascular complications, including arrhythmias. The aim of the current study was to evaluate P-wave dispersion (PWD) as a predictor of atrial fibrillation in patients with newly diagnosed COVID-19. In addition, the relationship between the PWD and inflammation parameters was investigated. METHODS: A total of 140 newly diagnosed COVID-19 patients and 140 age- and sex-matched healthy individuals were included in the study. The risk of atrial fibrillation was evaluated by calculating the electrocardiographic PWD. C-reactive protein (CRP), white blood cell, neutrophil and neutrophil-to-lymphocyte ratio (NLR) were measured in patients with newly diagnosed COVID-19. RESULTS: PWD, white blood cell, NLR and CRP levels were significantly higher in the COVID-19 group than the control group. There was a significant positive correlation between PWD and CRP level (rsâ=â0.510, Pâ
- Published
- 2020
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- View/download PDF
7. Vestibular evoked myogenic potential (VEMP) results in migraine and migrainous vertigo
- Author
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Ömer Küçüköner, Gökhan Akgül, Erkan Can, Çetin Kürşat Akpınar, Dursun Mehmet Mehel, Ahmet Bedir, Abdulkadir Özgür, and Doğukan Özdemir
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Adult ,Male ,medicine.medical_specialty ,Adolescent ,Migraine Disorders ,Vestibular evoked myogenic potential ,Audiology ,Vestibular migraine ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Vertigo ,otorhinolaryngologic diseases ,medicine ,Humans ,Prospective Studies ,030223 otorhinolaryngology ,biology ,business.industry ,General Medicine ,Middle Aged ,medicine.disease ,biology.organism_classification ,Vestibular Evoked Myogenic Potentials ,Otorhinolaryngology ,Migraine ,030220 oncology & carcinogenesis ,Female ,sense organs ,business ,Migrainous vertigo - Abstract
Background: The pathophysiology of vertigo is not fully known; thus, it is difficult to diagnose vestibular migraine (VM) in some migraine patients with vertigo symptoms.Aims/objectives: We aimed t...
- Published
- 2019
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8. Vestibular evoked myogenic potential (VEMP) results in migraine and migrainous vertigo
- Author
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Özdemir, Doğukan, primary, Akpınar, Çetin Kürşat, additional, Küçüköner, Ömer, additional, Mehel, Dursun Mehmet, additional, Bedir, Ahmet, additional, Akgül, Gökhan, additional, Can, Erkan, additional, and Özgür, Abdulkadir, additional
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- 2019
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9. Vestibular evoked myogenic potential (VEMP) results in migraine and migrainous vertigo.
- Author
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Özdemir, Doğukan, Akpınar, Çetin Kürşat, Küçüköner, Ömer, Mehel, Dursun Mehmet, Bedir, Ahmet, Akgül, Gökhan, Can, Erkan, and Özgür, Abdulkadir
- Subjects
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MIGRAINE diagnosis , *AUDIOMETRY , *COMPARATIVE studies , *EVOKED potentials (Electrophysiology) , *LONGITUDINAL method , *VERTIGO , *VESTIBULAR apparatus , *PREDICTIVE tests , *DISEASE incidence , *DESCRIPTIVE statistics ,MIGRAINE complications - Abstract
Background: The pathophysiology of vertigo is not fully known; thus, it is difficult to diagnose vestibular migraine (VM) in some migraine patients with vertigo symptoms. Aims/objectives: We aimed to evaluate the diagnostic value of cervical vestibular evoked myogenic potential (cVEMP) in patients with VM. Materials and Methods: Thirty-two patients diagnosed with migraine and 31 patients with VM were prospectively included in this study. The cVEMP responses were obtained, and P1-N1 latency, interpeak amplitude, amplitude asymmetry ratio were calculated. The patients' demographics, results of physical and audiometric examinations, and VEMP records as well as absence of responses were evaluated and compared between groups. Results: The incidence of ears with absence VEMP responses was found to be numerically higher in the migraine group than in the VM group (p =.106). Additionally, there were no statistically significant differences detected between the groups in terms of the p13 or n23 latency, interpeak amplitude, and amplitude asymmetry ratio measured in both right and left ears (p >.05). Conclusions: The increased rate of absent VEMPs was associated with the hypoperfusion of the sacculo-collic reflex pathway in migraine patients. In addition, it was concluded that VEMP reflex responses appear to be insufficient to differentiate between VM and migraine diagnoses. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
10. Aripiprazole-ınduced parkinsonism: report of two cases
- Author
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Akpınar, Çetin Kürşat, Doğru, Hakan, Aygün, Dursun, Bolat, Necdet, TR157024, TR3350, TR157185, and Vezirköprü Devlet Hastanesi, Nöroloji Anabilim Dalı
- Subjects
Parkinsonizm ,Antipsychotic ,Side Effect ,Aripiprazol ,Antipsikotik ,Aripiprazole ,Parkinsonism ,Yan Etki - Abstract
treatment of psychosis related to schizophrenia, depression, bipolar disorder, and Parkinson’s disease. Well-documented side effects associated with the use of aripiprazole include insomnia, anxiety, headache, nausea, vomiting, and somnolence. Aripiprazole is associated with infrequent extrapyramidal side effects. Parkinsonism is caused by some drugs that block dopamine receptors. The sign of drug-induced parkinsonism (DIP) has a subacute onset and the clinical picture is usually dominated by akinetic-rigid symptoms. The symptoms of parkinsonism generally disappear within a few months after cessation of the drug. Aripiprazole, a dopamine system stabilizer, has fewer extrapyramidal side effects than typical antipsychotics. In this paper, we present two cases of aripiprazole-induced parkinsonism. Aripiprazol şizofreni tedavisinde onaylanmış, bipolar bozukluk tedavisinde etkili olan ikinci jenerasyon bir atipik antipsikotiktir (1). Nöroleptik ve antiemetik gibi santral sinir sistemini bloke eden ilaçlara bağlı olarak, parkinsonizm, tardif diskinezi, tardif distoni, akatizi, myoklonus ve tremor gibi hareket bozuklukları ortaya çıkmaktadır (2). Bunlar içinde en sık görüleni ilacın indüklediği parkinsonizmdir (İİP). Olgular klinik olarak idiyopatik parkinson hastalığına (İPH) çok benzediğinden, yanlışlıkla İPH tanısı alıp, tedavi başlanabilmektedir (3). Aripiprazolün bilinen en sık yan etkileri baş ağrısı, uykusuzluk,anksiyete, bilinç değişikliği, bulantı ve kusmadır (4). Atipik antipsikotiklerin tipik nöroleptiklere göre daha az ekstrapiramidal yan etki profiline sahip olduğu öne sürülmektedir. Literatürde aripiprazol ilişkili parkinsonizm ile ilişkili yazı son derece azdır ve olgu sunumları şeklindedir. Bu yazıda aripiprazole bağlı parkinsonizm gelişen iki olgu sunulmuştur.
- Published
- 2015
11. İskemik İnme Hastalarında Ekstrakraniyal Karotis Arter Stentleme: Tek Merkez Deneyimi.
- Author
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AYTAÇ, Emrah, AKPINAR, Çetin Kürşat, and GÖNEN, Murat
- Abstract
Objective: Carotid artery stenting is a minimally invasive method, besides being, compared to carotid endarterectomy it has of low incidence of complications such as stroke, myocardial infarction (MI), pulmonary embolism, cranial nerve palsy and low mortality rate. The length of stay in hospital is short. In this study, we aimed to investigate the demographic data and short term results (6 months) of patients who applied cervical internal carotid artery stenting (CAS) procedure for carotid artery disease in the Neurology Nlinic of Firat University Medical Faculty, Department of Neurology. Material and Method: Forty-four patients who underwent CAS due to atherosclerotic carotid artery stenosis in our neurology clinic were enrolled in the study. Results: 75% of the patients had hypertension, 52,2% of diabetes, hyperlipidemia in 50% coronary artery disease in 36,4% and 50% of active smokers. There was a history of ischemic stroke or transient ischemic attack during the last 6 months in 68,2% of patients before the procedure. Selfexpandable stents and distal emboli protector were used in all patients. Sixteen patients on the right carotid artery, twenty-eight patients left carotid artery was performed successful stenting. None of the patients had clinical worsening or stroke during and after the procedure. Conclusion: As a result, internal carotid artery stenting is a successful and safe treatment option in prevention of stroke. [ABSTRACT FROM AUTHOR]
- Published
- 2018
12. Metastatik kolorektal kanserli hastaların tedavisinde cetuximab veya bevacizumab içeren kombinasyonların etkinlik ve yan etkilerinin değerlendirilmesi
- Author
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Çetin, Kürşat Korkmaz, Aydın, Fazıl, and İç Hastalıkları Anabilim Dalı
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Bevacizumab ,Retrospective studies ,Oncology ,Survival ,Neoplasms ,Neoplasm metastasis ,Antineoplastic agents ,Cetuximab ,Onkoloji ,Colorectal neoplasms - Abstract
Kolorektal kanser genetik, diyet,yaşam tarzı ve çevresel faktörlerin hastalığın ortaya çıkmasında etkili olduğu, sıklığı giderek artan morbidite ve mortalitesi yüksek malign bir hastalıktır. KRK ana tedavisi erken tanı sonrası cerrahidir. Ancak metastatik veya nüks hastalıkta adjuvan kemoterapiler ile toplam sağ kalımın artırıldığı çeşitli çalışmalar ile gösterilmiştir. Bu çalışmaya Karadeniz Teknik Üniversitesi Tıp Fakültesi Onkoloji servisi ve kemoterapi ünitesinde 2000 ? 2013 tarihleri arasında KRK tanısı ile tedavi alan hastalar değerlendirildi. Hastaların cinsiyet, yaş, patolojik tanı, varsa geçirilmiş cerrahi, ek hastalık, aldıkları kemoterapi rejimleri ve kür sayıları, tedavi sırasında ve sonrasında tesbit edilen yan etkiler ile progresyonsuz sağ kalım ve genel sağ kalım verileri retrospektif olarak değerlendirildi. EGFR?ne karşı geliştirilmiş olan kimerik yapıda bir monoklonal antikor olan setuksimabın ve Vasküler Endotelyal Büyüme Faktörü (VEGF) karşı geliştirilmiş bevacizumabın tedaviye olan katkıları araştırıldı. Çalışmamıza 89 hasta dahil edildi. Sekseniki hasta bevacizumab ve 40 hasta setuksimab içeren adjuvan kemoterapi tedavisi aldı. Setuksimab alan 40 hastadan 33?ü tedavi öncesi bevacizumab içeren protokol aldı. Her iki grup arasında anlamlı cinsiyet ve yaş farkı izlenmedi. Niteliksel verilerin karşılaştırılmasında Ki-kare testi, iki ölçüm verilerinin karşılaştırılmasında Student T testi, progresyonsuz sağkalım verilerinin değerlendirilmesinde Kaplan-Meier Testi, genel sağ kalım verilerinde ise Log-rank yöntemi uygulandı. İstatistiksel anlamlılık p değeri < 0.05 kabul edildi.Çalışmamızda literatür ile uyumlu olarak bevacizumab alan hastalarda PFS 9.13 ay, OS ise 21.58 ay bulundu. Cinsiyet arasında fark izlenmedi. Setuksimab alan hastalarda çalışmamızda PFS 3.35 ay , OS ise 30.48 ay tesbit edildi. Cinsiyet arasında anlamlı fark bulunmadı. Çalışmamızda setuksimab alan hastalarda progresyonsuz sağkalım (PFS) süresi genel olarak yapılan çalışmalardan kısa bulunmuştur. Ancak çalışmaların çoğu ilk basamak tedavide kullanılmış olup bizim hastalarımızda ise üçüncü veya sonraki basamaklarda kullanılmış olup, tekrar eden nükslerde veya tedavi dirençli hastalarda verilmesi olabilir. Hastalarımızda bulunan genel sağkalım (OS) ise literatür çalışmalarının çoğundan yüksek olup nüks halinde uygulanan tedavilerin ( kemoterapi, metastazektomi, radyoterapi ) toplam sağkalımı iyileştirmeye katkısı olduğu düşünülmüştür. Sonuç olarak; hedefe yönelik tedavilerin progresyonsuz sağkalıma ve genel sağ kalıma faydaları gösterilmiş ve yan etkileri de tolere edilebilir bulunmuş olup daha erken tedavi basamaklarında da kullanılması düşünülmelidir. Bu tedavilerin daha etkin değerlendirilmesi için ilk basamakta, daha geniş hasta sayıları ile prospetif randomize çalışmaların sürdürülmesine ihtiyaç vardır. Colorectal cancer is very malignant disease with increasing morbidity and mortality with the genetic factors , diet, life style and environmental factors. Main treatment of CRC (colorectal cancer) is surgery after early diagnosis. But in some of the studies it is found that adjuvant chemoterapies increases survival at metastatic or recurrent diseases. In our study we aimed to evaluate the CRC patients in Karadeniz Technical University Medical Oncology Clinic between 2000 -2013 . We studied gender, age, pathological diagnose, surgical history, additional disease, chemotherapy regimens and cure count, adverse effects during and after the therapy, PFS ( progression free survival ) , OS (overall survival) retrospectively. We investigated the additional effects of Setuksimab,a chimeric monoclonal antibody developed against EGFR , and Bevacizumab; developed against VEGF. We studied with 89 patients . 82 of them received Bevacizumab and 40 patients received Setuksimab as adjuvant chemotherapy. 33 patients received also Bevacizumab before Setuksimab protocol. Between two groups there is no significant difference for gender and age. To compare quantitative data we used Ki- square, for two measurement data to deem Stent T, survival with no progression Kaplan- Meier Test, overall survival data Log- rank method. We accepted P
- Published
- 2013
13. Neutrophil to Lymphocyte Ratio: A Simple and Readily Available Independent Marker of Mortality in Acute Ischemic Stroke.
- Author
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AYTAÇ, Emrah, AKPINAR, Çetin Kürşat, and GÜRKAŞ, Erdem
- Subjects
- *
NEUTROPHILS , *LYMPHOCYTES , *STROKE patients , *BLOOD sedimentation , *C-reactive protein , *INTERLEUKIN-6 - Abstract
Objective: We performedthis study to identifythe prognostic value of neut rophil/lymphocyte ratio (NLR) in patients presenting with acute ischemic st roke (AIS). Material and Method: We retrospectively analyzed 209 consecutive AIS pat ients and 202 age and sex matched healthy control subjects admit ted to neurology clinics of Ankara Numune Training and Research Hospital and Ankara Training and Research Hospital between January and June 2014. Pat ients were classified into admission National Institute of Health St roke Scale (NIHSS) score st rata, and st roke subtypes were classified using Trial of Org 10172 in Acute St roke Treatment (TOAST) and Bamford classificat ions. Mortality and funct ional outcome using modified Rankin Scale (mRS) was determined at 3 months. Results: The mean age of patients was 68.5±13.9 years (106 men and 103 women). NLR was significa ntly higher in AIS group (4.00±3.76) compared t o control group (2.18±0.99) (p <0,001). In patients with NIHSS≥16, NLR and mean platelet volume (MPV9) levels were significantly higher compared with moderate (6-15) and mild (≤5) NIHSS score group (p <0.001 and p =0.001, respectively). CRP levels were significantly higher in severe and moderate group (p <0.001). When patients are grouped according to functional outcomes at 3 months, NLR levels were significantly higher in patients who died (p =0.001) and CRP levels were significant ly higher in pat ients who died andthose with unfavorable outcome groups (p <0.001). Conclusion: NLR may be used as a simple and easy-to-measure independent marker for prediction of mortality in acute ischemic st roke pat ients. [ABSTRACT FROM AUTHOR]
- Published
- 2017
14. A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene.
- Author
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Singin B, Donbaloğlu Z, Barsal Çetiner E, Çetin K, Özkan Zarif N, Çelik K, Mıhçı E, Altıok Clark Ö, Tuhan H, and Parlak M
- Abstract
Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at 7 days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The patient was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the SCNN1B gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.
- Published
- 2024
- Full Text
- View/download PDF
15. Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.
- Author
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Barsal Çetiner E, Donbaloğlu Z, Singin B, Aydın Behram B, Çetin K, Karagüzel G, Tuhan H, and Parlak M
- Abstract
Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal dysgenesis, which has not yet been sufficiently defined. Data from 10 patients diagnosed with mixed gonadal dysgenesis were retrospectively reviewed. Clinical presentations, complaints at admission, imaging, genetic results, and treatments received by the patients were examined. Gonadal status and the gender of the patients were reared and evaluated by a multidisciplinary council decision. If received, growth hormone treatment doses and height gains were examined. The patients' ages at admission range from 6 months to 17.5 years. The median height SDS of the patients was -0.75 (2.73), the mean body weight SDS was -0.49 (±1.46), and the mean body mass index (BMI) SDS was 0.26 (±0.97). The complaints at admission varied, including ambiguous genitalia, short stature, and absence of menstruation. Some patients are completely in the female phenotype, while some are inadequately virilized male phenotype. External Masculinization Score (EMS) ranges from 1 to 6.5. The decision to raise 6 patients as female and 4 patients as male was made by a multidisciplinary council. Growth hormone treatment was administered to patients raised as female and diagnosed with short stature. The height SDS gain in treated patients was 0.42 (±0.49). Due to its rarity and varied clinical presentation, our knowledge about mixed gonadal dysgenesis is limited. Therefore, early diagnosis and individualized treatment plans are crucial for this patient group.
- Published
- 2024
- Full Text
- View/download PDF
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