107 results on '"İPEK, Polat"'
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2. Green synthesis and evaluation of antipathogenic, antioxidant, and anticholinesterase activities of gold nanoparticles (Au NPs) from Allium cepa L. peel aqueous extract
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İpek, Polat, Baran, Mehmet Fırat, Baran, Ayşe, Hatipoğlu, Abdulkerim, Keskin, Cumali, Yildiztekin, Mahmut, Küçükaydin, Selçuk, Becerekli, Hatice, Kurt, Kadri, Eftekhari, Aziz, Huseynova, Irada, Khalilov, Rovshan, and Cho, William C.
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- 2024
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3. Evaluation of Autonomic Dysfunction in Pediatric Migraine Patients
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Duygu Aykol, Nurhak Demir, Ayşe İpek Polat, İbrahim Öztura, Uluç Yiş, and Ayşe Semra Hız
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migraine ,autonomic nervous system ,blink reflex ,sympathetic skin response ,Pediatrics ,RJ1-570 - Abstract
Objective: Headache during childhood is a common condition. Although recent studies have shown that the autonomic nervous system (ANS) in adult migraine patients is affected, there are few studies evaluating this relationship in children. Adult migraine patients demonstrate no abnormal ANS function in either the sympathetic or parasympathetic nervous system but there can be sympathetic/parasympathetic hypofunction/hyperfunction. The aim of this study is to investigate autonomic dysfunction in pediatric migraine patients. Method: The study evaluated tests for autonomic functions such as the orthostatic test, 30: 15 ratio, cold-pressor test, heart-rate responses to deep and normal breathing, valsalva ratio (VR), blink reflex (BR), and sympatheticskin-response with thirty pediatric migraine patients in interictal period. Patients in control group were selected from children that had not any other disease or headhache. Results: Consistent with sympathetic hypofunction, there was more frequent orthostatic hypotension in migraine group (p=0.019) and negative correlation between average disease duration, migraine attack duration and orthostatic tests results. Consistent with parasympathetic hyperfunction, the migraine group had higher VRs (p=0.035). There was a negative correlation between analgesic use rate and normal respiratory-RR-interval variability and between attack rate and deep and normal-R-R interval (R-wave peak to R-wave peak in electrocardiograms) variability. There was a positive correlation between average disease duration and BR R2 and R2’ latency in migraine group (p=0.028 and p=0.027). Conclusion: Our study revealed that ANS functions are affected in pediatric migraine and balance between sympathetic and parasympathetic nervous system is distrupted.Our study demonstrates decreased sympathetic responsiveness during the interictal period. Our results suggest hypofunction in the parasympathetic nervous system of migraine patients as attack rate and pain density elevate.
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- 2024
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4. Deciphering the effect of Potentilla fulgens root extract against healthy HUVEC cell line and cancer cell lines (A549 and SKOV-3)
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İpek, Polat, Baran, Ayşe, Fırat Baran, Mehmet, Eftekhari, Aziz, Khusro, Ameer, Mehdi Ommati, Mohammad, Aliyev, Elvin, Khalilov, Rovshan, Esther Lydia, D., Farouk Elsadek, Mohamed, and Musaed Almutairi, Saeedah
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- 2024
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5. Determination of chemical components of the endemic species Allium turcicum L. plant extract by LC-MS/MS and evaluation of medicinal potentials
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İpek, Polat, Atalar, Mehmet Nuri, Baran, Ayşe, Baran, Mehmet Fırat, Ommati, Mohammad Mehdi, Karadag, Musa, Zor, Murat, Eftekhari, Aziz, Alma, Mehmet Hakkı, Benis, Khaled Zoroufchi, Nuriyeva, Fidan, and Khalilov, Rovshan
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- 2024
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6. İNSAN KAYNAKLARI YÖNETİMİ UYGULAMALARI ÇALIŞANLARA NASIL YANSIR? İŞ BECERİKLİLİĞİ PERSPEKTİFİNDEN BİR DEĞERLENDİRME
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Duygu Kızıldağ and Gülden İpek Polat
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job crafting ,human resources management ,control-oriented human resources practices ,commitment-oriented human resources management practices ,i̇ş becerikliliği ,i̇nsan kaynakları yönetimi ,kontrol odaklı i̇nsan kaynakları yönetimi uygulamaları ,bağlılık odaklı i̇nsan kaynakları yönetimi uygulamaları ,Industrial productivity ,HD56-57.5 - Abstract
Amaç: Bu çalışmada, kontrol ve bağlılık odağından insan kaynakları yönetimi uygulamalarının çalışanların iş becerikliliği davranışları üzerindeki rolünü belirlemek amaçlanmıştır.Yöntem: Çalışmanın amacı doğrultusunda İzmir ilinde bulunan bir üniversitenin İnsan Kaynakları Yönetimi Bölümü üçüncü sınıf öğrencilerinden 22 kişi seçilmiş ve yarı yapılandırılmış görüşmeler gerçekleştirilmiştir. Görüşmelerden elde edilen cevaplar betimsel analiz yöntemiyle incelenmiş ve yorumlanmıştır.Bulgular: Araştırma sonucunda, kontrol odaklı insan kaynakları yönetimi uygulamalarının iş becerikliliğinin ortaya çıkmasını zorlaştırırken, bağlılık odaklı insan kaynakları yönetimi uygulamalarının iş becerikliliğinin ortaya çıkmasını kolaylaştırdığı belirlenmiştir. Ayrıca bazı kontrol odaklı insan kaynakları yönetimi uygulamalarının da çalışanların iş becerikliliğini olumlu yönde etkileyebileceği görülmüştür.Özgünlük: Literatürde kavramı henüz kontrol ve bağlılık odaklı insan kaynakları yönetimi uygulamaları kapsamında inceleyen fazla çalışmaya rastlanamamıştır. Bu çalışma, Türkçe literatürde bu odakta yer alan ilk çalışma olması açısından önem teşkil etmektedir.
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- 2022
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7. Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder
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İpek Polat, Ayşe Semra Hız, Uluç Yiş, Müge Ayanoğlu, Derya Okur, Erhan Bayram, and Hüseyin Burak Baykara
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autism ,epilepsy ,epileptic discharge ,dysrhythmia ,Pediatrics ,RJ1-570 - Abstract
Objective: Epilepsy and electroencephalography (EEG) abnormalities are more commonly seen in autism spectrum disorder (ASD). The aim of the present study is determine the risk factors that cause epilepsy, seizures and EEG abnormalities in cases with EEG examination who were followed with the diagnosis of ASD. Method: A total of 166 cases diagnosed with ASD according to the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition in Dokuz Eylül University Faculty of Medicine Hospital Clinic of Child Psychiatry and whose neurological evaluations and examinations were performed in the pediatric neurology clinic, were included in the study. We retrospectively recorded and analyzed the cases' clinical features, the results of physical examination, imaging and EEG, comorbidities and medications they used. Results: Of the cases, 74.4% were male. The mean age of cases with epilepsy diagnosis, at least one seizure and epileptic discharges on EEG was higher (p
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- 2022
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8. Antioxidant properties of allium turcicum Özhatay & cowley plant extract, its effects on the proliferation and migration of cancer cells.
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İPEK, Polat, Baran, Ayse, Cebe, Deniz Barış, Ahmadian, Elham, Eftekhari, Aziz, and Baran, Mehmet Fırat
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ENDEMIC plants ,DIETARY patterns ,CANCER cell proliferation ,CELL migration ,COLORECTAL cancer - Abstract
Cancer is a type of non-communicable disease that is responsible for numerous deaths worldwide. Cancer incidence and mortality rates are on the rise due to a combination of factors, such as a growing population, aging, and poor dietary habits. The Allium turcicum Özhatay & Cowley plant is an endemic plant in the area where it grows and is consumed by the public due to its various benefits. This endemic plant, which generally grows in high-altitude regions, is sold in bunches because it is costly, mixed with rock salt, crushed into powder, and consumed as a spice. The cytotoxic and growth-inhibitory effects of A. turcicum Özhatay & Cowley herb extract on human glioblastoma U373 cells, human colorectal carcinoma cell HCT-116, and healthy HUVEC cell lines were determined by the MTT method. After 24 and 48 h of application, logIC
50 values in HUVEC, HCT-116, and U373 cells were defined as 3.737, 3.765; 3.513, 3.696, 4.476, and 4.104 µg/mL, respectively. We conducted a cell migration experiment to study the A. turcicum Özhatay & Cowley Extract (ATÖCE) impact on cancer cells' metastatic behavior. Our findings indicate that ATÖCE has an inhibitory effect on the migration potential of the cells used in the study. We conducted experiments using DPPH, ABTS, CUPRAC, and total phenolic content to assess the antioxidant properties of ATÖCE. The findings from the antioxidant activity experiments revealed an activity level of 0.20 ± 0.046 at IC50 . Additionally, the total phenolic content was measured to be 0.26 ± 0.044 mg GAE/g. [ABSTRACT FROM AUTHOR]- Published
- 2024
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9. Antiproliferative effect of Potentilla fulgens on glioblastoma cancer cells through downregulation of Akt/mTOR signaling pathway
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Kandemir, Sevgi and Ipek, Polat
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Bio-Rad Laboratories Inc. ,Aprepitant ,Medicine, Botanic ,Brain tumors -- Development and progression ,Cancer -- Care and treatment -- Development and progression ,Cancer cells ,Medicinal plants ,Glioblastoma multiforme -- Development and progression ,Medicine, Herbal ,Apoptosis ,Health - Abstract
Byline: Sevgi. Kandemir, Polat. Ipek Background: Glioblastoma multiforme (GBM) is the most aggressive brain tumor that is common among adults. This aggression is due to increased invasion, migration, proliferation, angiogenesis, [...]
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- 2023
10. Anticancer Activities of Zinc Oxide Nanoparticles (ZnONPs) Synthesized from Mentha longifolia L. Leaf Extract
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İPEK, Polat, primary, BARAN, Mehmet Fırat, additional, HATİPOĞLU, Abdulkerim, additional, and BARAN, Ayşe, additional
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- 2024
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11. Green synthesis and characterization of selenium nanoparticles (Se NPs) from the skin (testa) of Pistacia veraL. (Siirt pistachio) and investigation of antimicrobial and anticancer potentials
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Baran, Mehmet Fırat, Keskin, Cumali, Baran, Ayşe, Kurt, Kadri, İpek, Polat, Eftekhari, Aziz, Khalilov, Rovshan, Fridunbayov, Ismayil, and Cho, William C.
- Abstract
Graphical Abstract: Graphical Abstract Of Green Synthesis, Characterization, And Biomedical Application of Pv-SeNPs
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- 2024
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12. The effects of Mannheimia haemolytica and albendazole on marbofloxacin pharmacokinetics in lambs
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Altan, Feray, Sayin Ipek, Duygu Neval, Corum, Orhan, Yesilmen Alp, Simten, Ipek, Polat, and Uney, Kamil
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- 2019
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13. Anticancer Activities of Zinc Oxide Nanoparticles (ZnONPs) Synthesized from Mentha longifolia L. Leaf Extract.
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İPEK, Polat, BARAN, Mehmet Fırat, HATİPOĞLU, Abdulkerim, and BARAN, Ayşe
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SPEARMINT , *ANTINEOPLASTIC agents , *RHODOPSIN , *COLORECTAL cancer , *CELL lines , *ZINC oxide - Abstract
Recently, there has been a remarkable increase in cancer and cancer-related deaths. In this study, the impacts of zinc oxide nanoparticles (ZnONPs) produced from the aqueous leaf extract of Mentha longifolia L. (ML) on ovary adenocarcinoma (OVCAR-3), colorectal carcinoma (HCT-116), and healthy retinal pigment epithelial cell (RPE-1) lines were investigated. The MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) test was performed to discover its antiproliferative properties. As a result of the application of ML-ZnONPs on RPE-1, OVCAR-3, and HCT-116 cell lines at doses (µg/mL) of 250, 500, and 1000 for 24 hours, the viability rates (%) in the cell lines were 18.73-30.56, 21.98-28.76, and 27.27-40.93, respectively. In the 48-hour application, the viability rates (%) of the same cells were between 29.51-46.83, 32.49-40.81, and 46.82-44.37, respectively. The MTT test revealed that ML-ZnONPs strongly suppressed the growth of RPE-1, OVCAR-3, and HCT-116 cell lines. The test showed that the effect of dose increase and time on the viability of both cancer cell lines was negative. [ABSTRACT FROM AUTHOR]
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- 2024
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14. Cytotoxic potential of selenium nanoparticles (SeNPs) derived from leaf extract of Mentha longifolia L.
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İPEK, Polat, BARAN, Ayşe, HATİPOĞLU, Abdulkerim, and BARAN, Mehmet Fırat
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SELENIUM , *NANOPARTICLES , *SPEARMINT , *PLANT extracts , *ANTINEOPLASTIC agents - Abstract
The search for alternative methods in cancer treatments has been going on for many years. In the current study conducted for this purpose, selenium nanoparticles (ML-SeNPs) were produced from the aqueous leaf extract of Mentha longifolia L. easily and inexpensively, without harming the environment. The anticancer potential of ML-SeNPs on glioblastoma cell (U373), osteosarcoma cell (U2OS), and healthy retinal pigment epithelial cell (RPE-1) lines was determined by MTT (3-(4,5-dimetiltiazol-2-il)-2,5-difeniltetrazolium bromid) test. For the test, ML-SeNPs were applied at 100, 300, and 600 µg/mL levels and interaction was provided for 24 and 48 hours. The survival rates (%) in RPE-1, U373, and U2OS cell lines in the 24-hour application were 107.49-98.89, 97.66-86.82, and 87.81-83.37, respectively. The viability rates (%) of the cells in 48 hours of application were 72.27-87.39, 68.17-73.48, and 81.00-84.67, respectively. In general, it was discovered that the cytotoxic effect of ML-SeNPs on RPE-1, U373, and U2OS cell lines was greater at low doses and increased over time. In-vivo studies that support the antiproliferative action of ML-SeNPs may boost the prospect of using them as therapeutic agents in potential cancer treatment procedures in the following years. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Effect of hesperidin on deltamethrin toxicity in rat periodontal membrane
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İpek, Fikret, primary, Deveci, Engin, additional, and İpek, Polat, additional
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- 2023
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16. Evaluation of Lipid Peroxidation, Total Antioxidant Capacity and Some Hematological Parameters in Awessi Sheep with Oestrosis
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SAYIN İPEK, Duygu Neval, primary, İPEK, Polat, additional, ŞİMŞEK, Aynur, additional, KOÇHAN, Akın, additional, and KATANALP, Ömer Faruk, additional
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- 2023
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17. Green Synthesis of Silver Nanoparticles Derived from Papaver rhoeas L. Leaf Extract: Cytotoxic and Antimicrobial Properties
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İpek, Polat, primary, Yıldız, Reşit, additional, Baran, Mehmet Fırat, additional, Hatipoğlu, Abdulkerim, additional, Baran, Ayşe, additional, Sufianov, Albert, additional, and Beylerli, Ozal, additional
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- 2023
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18. Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique
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Burcu Serim Demirgören, Aylin Özbek, Nüket Göçmen Karabekir, Bari Ay, Serkan Turan, Gökşin Nilüfer Yonguç, Selim Karabekir, Ayşe İpek Polat, Ayşe Semra Hız, and Özlem Gencer Kıdak
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early-onset bipolar disorder ,cerebellum ,stereology ,magnetic resonance imaging ,volumetric measurements ,cerebellar asymmetry ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
OBJECTIVE Recent data from the literature have recognized the importance of cerebellum in bipolar disorder. Brain imaging studies focusing on cerebellar volumetric changes in bipolar disorder demonstrated controversial data. The aim of this study is to investigate whether there is any difference between early-onset bipolar cases and healthy controls regarding cerebellar volumetric measurements. METHODS Patients with bipolar I disorder were compared to healthy controls in terms of total cerebellar volume, volumes of the right and left cerebellar hemispheres, and cerebellar volumetric asymmetry. All the sociodemographic, clinical data, and magnetic resonance image scans were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were calculated subsequently. RESULTS We recruited 10 bipolar I cases and 10 healthy controls. There were no statistically significant differences between the bipolar and the control groups for total cerebellar volumes, volumes of right and left cerebellar hemispheres, and cerebellar asymmetry indices. CONCLUSION Future studies focusing on cerebellar changes in early-onset bipolar disorder should include large case and control series and designed as follow-up studies for being able to determine the chronic effects of the illness on cerebellar volumes.
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- 2019
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19. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
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Yaramis, Ahmet, Lochmüller, Hanns, Töpf, Ana, Sonmezler, Ece, Yilmaz, Elmasnur, Hiz, Semra, Yis, Uluc, Gungor, Serdal, Ipek Polat, Ayse, Edem, Pinar, Beltran, Sergi, Laurie, Steven, Yaramis, *Aysenur, Horvath, Rita, and Oktay, Yavuz
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- 2020
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20. Biosynthesis of silver nanoparticles from Arum dioscoridis plant leaf aqueous extract: anticancer and antimicrobial properties
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İPEK, Polat, primary, BARAN, Mehmet Fırat, additional, YILDIZ, Reşit, additional, and HATİPOĞLU, Abdulkerim, additional
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- 2023
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21. Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms
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Aylin Özbek, Nüket Göçmen Mas, Serkan Turan, Bari Ay, Burcu Serim Demirgören, Gökşin Nilüfer Yonguç, Selim Karabekir, Ayşe İpek Polat, Ayşe Semra Hız, and Özlem Gencer Kıdak
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Medicine (General) ,R5-920 - Abstract
Objectives This study aimed to investigate whether early-onset schizophrenia (EOS) cases differ from controls regarding volumes of the total cerebellum and the right and left cerebellar hemispheres, and volumetric asymmetry. Correlations of cerebellar volumes and asymmetry indices with severity of symptoms and general functioning in cases of EOS were also assessed. Methods Adolescents with EOS (n = 23) were compared with controls (n = 23). Sociodemographic and clinical data, and magnetic resonance imaging scans that were acquired for routine clinical purposes were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were subsequently calculated. Scores of the Positive and Negative Syndrome Scale and the Children’s Global Assessment Scale were used to assess the severity of symptoms and general functionality. Results There were no significant differences in any of the cerebellar volumes and asymmetry indices between the two groups. Neither cerebellar volumes nor asymmetry indices were correlated with the severity of symptoms and general functionality in EOS. Conclusions Our findings suggest that the early-onset form of schizophrenia does not show apparent volumetric changes of the cerebellum. Additionally, the neural circuits involved in formation of symptomatology may not reflect any correlation with cerebellar volumes at mid-adolescence.
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- 2019
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22. Green synthesis and evaluation of antipathogenic, antioxidant, and anticholinesterase activities of gold nanoparticles (Au NPs) from Allium cepaL. peel aqueous extract
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İpek, Polat, Baran, Mehmet Fırat, Baran, Ayşe, Hatipoğlu, Abdulkerim, Keskin, Cumali, Yildiztekin, Mahmut, Küçükaydin, Selçuk, Becerekli, Hatice, Kurt, Kadri, Eftekhari, Aziz, Huseynova, Irada, Khalilov, Rovshan, and Cho, William C.
- Abstract
Gold nanoparticles (Au NPs) have potentially therapeutic properties as they are synthesized via biomolecules as reducing and stabilizing agent(s). The aim of this study is to develop an easy and eco-friendly method for the synthesis of Au NPs using extracts from the Allium cepa(AC) red peel (skin) extract and investigate the antibacterial and antioxidant activity and also inhibitory effects on acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) enzymes. UV–Vis peak at ~ 564 nm confirmed the Au NPs absorbance. TEM images revealed the formation of Au NPs with mostly spherical shapes and sizes between 6.08 and 54.20 nm. FTIR analysis confirmed the important biological compounds responsible for the reduction of gold. The strong absorption property of Au NPs was studied by EDX. The produced Au NPs demonstrated significant antibacterial and antifungal activity against the bacterial and fungal strains tested, as well as efficient inhibitory activity against both AChE and BChE enzymes. The highest antimicrobial activities were found against Staphylococcus aureus(0.06° mg/ml) and Candida albicans(0.06° mg/ml). The antioxidant test findings revealed that AC-Au NPs had lesser activity when compared to normal antioxidants. The Au NPs showed excellent inhibitory efficacy against AChE and BChE. The proposed green technique could encourage the innocuous generation of Au NPs, implying therapeutic possibilities.
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- 2024
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23. Importance of Vitamin D Status and Nerve Conduction in Pediatric Cystic Fibrosis Patients
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İpek Polat, Seda Şirin Köse, Müge Ayanoğlu, Derya Okur, Erhan Bayram, Uluç Yiş, Suna Asilsoy, and Semra Hız Kurul
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Pediatrics, Perinatology and Child Health ,Neurology (clinical) - Abstract
Cystic fibrosis is one of the most common inherited diseases. It presents with recurrent respiratory infections, pancreatic insufficiency, and growth retardation. Neurological involvement becomes more common as life expectancy increases. Chronic hypoxia, impaired glucose intolerance, autoimmune mechanisms, vasculitis changes, and micronutrient deficiencies seem to cause neuropathy in cystic fibrosis. This study was aimed to investigate peripheral neuropathy in pediatric cystic fibrosis patients. Twenty-one cystic fibrosis patients and 19 healthy control subjects between the ages of 7 and 17 years were included. Their nerve conduction study results and laboratory investigations were analyzed. Participants were classified into four groups; 1. Cystic fibrosis with vitamin D deficiency, 2. Cystic fibrosis with normal vitamin D levels, 3. Healthy subjects with vitamin D deficiency, 4. Healthy subjects with normal vitamin D levels. We found statistically significantly lower sensory median nerve sensorial nerve action potential, sensorial sural nerve conduction velocity, and motor peroneal nerve compound motor action potential in cystic fibrosis patients with vitamin D deficiency than in other cases. We also found that the main difference between cystic fibrosis and control groups was especially in patients with low vitamin D levels. Nerve damage starts at an early age, especially in cystic fibrosis patients especially those with vitamin D deficiency. Electrophysiological evaluation to assess neuropathy is important even in asymptomatic patients. Prevention of hypovitaminosis D is important to prevent neuropathy in cystic fibrosis patients.
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- 2023
24. The impacts of poor glycemic control and disease duration on peripheral nerves in children and adolescents with type 1 diabetes mellitus
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Müge Ayanoğlu, Uluç Yiş, Hale Ünver Tuhan, Ayşe İpek Polat, Tuncay Derya Okur, Pınar Edem, Cem Paketçi, Erhan Bayram, Ayhan Abacı, and Semra Hız
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Neurology ,Neurology (clinical) - Abstract
Objective: To evaluate the risk factors of subclinical neuropathy, and the nerve conduction study (NCS) results in children, and adolescents with type 1 diabetes mellitus (T1DM). Methods: A total of 81 patients without neuropathy symptoms were studied. Demographical features, pubertal stage, disease duration, NCS results, lipid profile results in the last 2 years, HbA1c results in the last 5 years, and the types of treatments (multiple-dose and insulin pump therapy) were recorded. Results: The median age was 14 (5) years, 49.3 % (n=40) of the study group was female and 81.5 % (n=66) of the patients were pubertal. Of the patients, 16.04% had abnormal NCS results. There were no significant differences between patients with normal and abnormal NCS results in terms of demographical features, pubertal stage, disease duration, lipid profiles, and dysglycemia. No significant differences were found between the types of treatment in terms of NCS results. The proximal and distal compound muscle action potential (CMAP) amplitudes of the median nerve were significantly lower in patients with poor glycemic control than in those with well-glycemic control. Sensory nerve action potential (SNAP) amplitudes of sural nerve were significantly lower in patients whose disease durations were ≥60 months than in those
- Published
- 2022
25. HOW DO HUMAN RESOURCES MANAGEMENT PRACTICES REFLECT ON EMPLOYEES? AN EVALUATION FROM JOB CRAFTING PERSPECTIVE
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Gülden İpek POLAT and Duygu KIZILDAĞ
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Purpose: In this study, it is aimed to determine the role of human resource management practices, from the focus of control and commitment, on the job crafting behaviors of employees. Methodology: In accordance with the purpose of the study, a total of 22 people among the third year students of the Human Resources Management Department of a university in Izmir, were selected and semi-structured interviews were conducted. The answers obtained from the interviews were analyzed and interpreted with the descriptive analysis method. Findings: As a result of the research, it has been determined that while control-oriented human resource management practices make it difficult for the emergence of job crafting, commitment-oriented human resource management practices facilitate the emergence of job crafting. Additionally it has been observed that some control-oriented human resource management practices can positively affect the job crafting of employees. Originality: In the literature, there are not many studies examining the concept within the scope of control and commitment-oriented human resources management practices. This study is important in terms of being the first study in this focus in Turkish literature. Keywords: Job Crafting, Human Resources Management, Control-Oriented Human Resources Practices, Commitment-Oriented Human Resources Management Practices. JEL Codes: J24, M12, O15.
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- 2022
26. Antiproliferative effect of Potentilla fulgens on glioblastoma cancer cells through downregulation of Akt/mTOR signaling pathway
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Kandemir, Sevgi Irtegun, primary and Ipek, Polat, additional
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- 2022
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27. Inflammation and endothelial dysfunction in pediatric migraine patients
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Uluç Yiş, Semra Hız Kurul, Ali Riza Sisman, İpek Polat, and Pakize Karaoglu
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Male ,medicine.medical_specialty ,Migraine Disorders ,medicine.medical_treatment ,Inflammation ,Gastroenterology ,Pathogenesis ,Insulin resistance ,Internal medicine ,medicine ,Humans ,Insulin ,Vascular Diseases ,Endothelial dysfunction ,Neutrophil to lymphocyte ratio ,Child ,medicine.diagnostic_test ,business.industry ,medicine.disease ,C-Reactive Protein ,Migraine ,Erythrocyte sedimentation rate ,Pediatrics, Perinatology and Child Health ,Female ,Insulin Resistance ,medicine.symptom ,business - Abstract
Background Inflammation and endothelial dysfunction are the suggested underlying mechanisms in migraine. Pentraxins, C-reactive protein, erythrocyte sedimentation rate, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio are good indicators of inflammation. Alterations in insulin levels and insulin sensitivity may trigger endothelial dysfunction. This study evaluates the association between migraine and serum biomarkers of inflammation and endothelial dysfunction in children. Methods Children with migraine and healthy subjects were recruited. Serum samples were obtained in an attack-free period. We collected data on serum levels of complete blood cell count, C-reactive protein, erythrocyte sedimentation rate, pentraxin-3, and data from biochemical investigations. We compared these with clinical data such as age, sex, disease duration, attack frequency, attack duration, analgesic use, family history, and Pediatric Migraine Disability Assessment Questionnaire scores. Results We assessed samples from 32 children (11 boys, 21 girls) with migraine and 19 healthy controls (8 boys, 11 girls). We found significantly higher pentraxin-3, insulin, and insulin resistance in patients with migraine (P = 0.001, P = 0.032, and P = 0.008, respectively). A positive directional correlation is found between pentraxin-3 and Pediatric Migraine Disability Assessment Questionnaire scores. The best cut-off values for pentraxin-3 is determined between 12.75 pg/mL to 15 pg/mL in migraineurs. Conclusions In conclusion increased pentraxin-3 levels support the suggestions that inflammation plays a role in pediatric migraine. The vascular endothelial dysfunction is observed by a rise in insulin and insulin resistance levels. Our findings support the idea that ongoing inflammation and vascular endothelial dysfunction between attacks may play a role in migraine pathogenesis in children.
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- 2022
28. Vitamin D and Nerve Conduction In Pediatric Type-1 Diabetes Mellitus
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İpek Polat, Gülay Can Yılmaz, and Özge Dedeoğlu
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Diabetes Mellitus, Type 1 ,Developmental Neuroscience ,Diabetic Neuropathies ,Sural Nerve ,Pediatrics, Perinatology and Child Health ,Neural Conduction ,Humans ,Neurology (clinical) ,General Medicine ,Vitamin D ,Child - Abstract
Introduction: The aim of this study is to investigate a possible association between vitamin D deficiency and diabetic peripheral neuropathy in pediatric patients with type 1 diabetes mellitus.& nbsp;Materials-methods: Twenty-nine patients with type 1 diabetes mellitus and 19 healthy controls were included to the study. All individuals were evaluated for diabetic peripheral neuropathy with nerve conduction studies. Complete blood cell count, biochemical investigations, serum vitamin D levels, hemoglobin A1c levels were recorded.& nbsp;Results: No statistically significant differences between the diabetes and control groups in terms of gender, age, body weight, height, body mass index, systolic and diastolic blood pressures, laboratory investigations, serum vitamin D levels and nerve conduction studies was found. Patients with diabetes were grouped as patients with normal serum vitamin D levels and patients with vitamin D deficiency. Sensory nerve action potential of sural nerve and motor peroneal nerve velocity were statistically significantly lower in diabetic patients with vitamin D deficiency compared to diabetic patients with normal vitamin D levels (p 0.009 and 0.005 respectively).& nbsp;Conclusion: Our results suggested that hypovitaminosis D might lead to development of neuropathic changes particularly on the lower limb nerves even in the early stages of the disease. It should be kept in mind that patients with hypovitaminosis D should be elaborately examined and closely followed up for the development of diabetic neuropathic changes, even if glucose control is achieved.(C) 2022 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology.
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- 2021
29. Cerebellar volumes in early-onset bipolar disorder: a pilot study of a stereological measurement technique
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Özlem Gencer Kidak, Ayşe İpek Polat, Goksin Nilufer Yonguc, Bari Ay, Serkan Turan, Aylin Özbek, Burcu Serim Demirgören, Selim Karabekir, Nuket Göçmen Karabekir, and Ayşe Semra Hız
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Cerebellum ,cerebellum ,Pharmacology toxicology ,Neurosciences. Biological psychiatry. Neuropsychiatry ,Stereology ,Neuroimaging ,early-onset bipolar disorder ,mental disorders ,magnetic resonance imaging ,Medicine ,Pharmacology (medical) ,Bipolar disorder ,skin and connective tissue diseases ,cerebellar asymmetry ,Early onset ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,volumetric measurements ,medicine.disease ,Psychiatry and Mental health ,medicine.anatomical_structure ,nervous system ,stereology ,sense organs ,business ,Neuroscience ,RC321-571 - Abstract
OBJECTIVE Recent data from the literature have recognized the importance of cerebellum in bipolar disorder. Brain imaging studies focusing on cerebellar volumetric changes in bipolar disorder demonstrated controversial data. The aim of this study is to investigate whether there is any difference between early-onset bipolar cases and healthy controls regarding cerebellar volumetric measurements. METHODS Patients with bipolar I disorder were compared to healthy controls in terms of total cerebellar volume, volumes of the right and left cerebellar hemispheres, and cerebellar volumetric asymmetry. All the sociodemographic, clinical data, and magnetic resonance image scans were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were calculated subsequently. RESULTS We recruited 10 bipolar I cases and 10 healthy controls. There were no statistically significant differences between the bipolar and the control groups for total cerebellar volumes, volumes of right and left cerebellar hemispheres, and cerebellar asymmetry indices. CONCLUSION Future studies focusing on cerebellar changes in early-onset bipolar disorder should include large case and control series and designed as follow-up studies for being able to determine the chronic effects of the illness on cerebellar volumes.
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- 2019
30. Growth and Development Characteristics of Hair Goats Breed in Diyarbakır Province1
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Rıdvan YAKİŞAN, Ipek, Polat, Karataş, Ahmet, Bırusk Keskin, Han, Yavuz, Şahin Tez, Vural, Mehmet Emin, Ipek, Duygu Neval Sayın, Bilmez, Yasemin Kaplan, and çatalkaya, Mehmet
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- 2021
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31. Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature
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Uluç Yiş, Pinar Edem, Derya Okur, İpek Polat, Cem Paketçi, Erhan Bayram, Müge Ayanoğlu, and Semra Hız Kurul
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Male ,Pediatrics ,medicine.medical_specialty ,Time Factors ,Adolescent ,Risk Assessment ,Tertiary Care Centers ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Risk Factors ,medicine ,Vitamin D and neurology ,Pediatric stroke ,Humans ,cardiovascular diseases ,Risk factor ,Child ,Stroke ,Ischemic Stroke ,Retrospective Studies ,business.industry ,Rehabilitation ,Age Factors ,Infant ,medicine.disease ,Vitamin D Deficiency ,Epilepsy in children ,Child, Preschool ,Cohort ,Etiology ,Surgery ,Female ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business ,030217 neurology & neurosurgery - Abstract
Objectives Acute seizures and post-stroke epilepsy have been reported more frequently in patients with pediatric stroke than adults. Acute seizures in the first days of a stroke may deteriorate stroke and ischemia-related neurodegeneration and contribute to the development of post-stroke epilepsy. In this study, we aimed to investigate risk factors for the development of post-stroke epilepsy in children with arterial ischemic stroke. Materials and Methods We recruited 86 children with arterial ischemic stroke. We analyzed variables, including age at admission, gender, complaints at presentation, focal or diffuse neurologic signs, neurologic examination findings, laboratory investigations that were conducted at admission with stroke (complete blood cell count, biochemical-infectious-metabolic-immunological investigations, vitamin B12 levels, vitamin D levels), neuroimaging results, etiologies, time of the first seizure, time of remote seizures, and development of neurologic deficit retrospectively. Seizures during the first six hours after stroke onset were defined as ‘very early seizures’. ‘Early seizures’ were referred to seizures during the first 48 h. Patients who experienced two or more seizures that occurred after the acute phase of seizures were classified as ‘epileptic.’ A binary logistic regression analysis was used to estimate risk factors. Results An acute seizure was detected in 59% and post-stroke epilepsy developed in 41% of our cohort. Binary logistic regression analysis demonstrated that ‘very early seizures’ increased epilepsy risk six-fold. Epilepsy was 16 times higher in patients with ‘early seizures’. Low vitamin D levels were defined as a risk factor for post-stroke epilepsy. Conclusion Seizures in the very early period (within the first six hours) are the most significant risk factors for the development of post-stroke epilepsy Further studies regarding seizure prevention and neuroprotective therapies are needed because post-stroke epilepsy will affect long term prognosis in patients with pediatric stroke.
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- 2021
32. COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
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Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf, Yaramış, Ayşenur, Yaramış, Ahmet, Lochmueller, Hanns, Topf, Ana, Sönmezler, Ece, Yılmaz, Elmasnur, Hız, Semra, Yiş, Uluç, Güngör, Serdal, Polat, Ayşe İpek, Edem, Pınar, Beltran, Sergi, Laurie, Steven, Horvath, Rita, Oktay, Yavuz, Graduate School of Health Sciences, Apollo - University of Cambridge Repository, and Horvath, Rita [0000-0002-9841-170X]
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Pediatrics ,medicine.medical_specialty ,Encefalopatia ,Infants -- Malalties ,genetic structures ,Turkish ,Encephalopathy ,32 Biomedical and Clinical Sciences ,Disease ,Neurodegenerative ,Electroencephalography ,COL4A1 mutations ,Collagen ,Hemorrhage ,Phenotype ,3105 Genetics ,Article ,03 medical and health sciences ,0302 clinical medicine ,Neuroimaging ,Clinical Research ,Genetics ,medicine ,2.1 Biological and endogenous factors ,Missense mutation ,Medicine ,Malformations of cortical development ,Mutation ,Basement membranes ,Genetics (clinical) ,030304 developmental biology ,Pediatric ,2 Aetiology ,2. Zero hunger ,0303 health sciences ,medicine.diagnostic_test ,business.industry ,Neurosciences ,medicine.disease ,language.human_language ,Brain Disorders ,3. Good health ,Neurological ,Cohort ,Mutation (genetic algorithm) ,language ,Neurology (clinical) ,Neurogenètica ,business ,030217 neurology & neurosurgery ,31 Biological Sciences - Abstract
Objective: this study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods: whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. Results: we have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM-001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. Conclusions: COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotype-phenotype correlations remain to be established., Scientific and Technological Research Council of Turkey (TÜBİTAK); Medical Research Council; European Research Council (ERC); European Union (European Union); Newton Fund; Wellcome Centre for Mitochondrial Research; Wellcome Trust Pathfinder Scheme
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- 2020
33. A Rare Form of Heteropagus Twinning: Three-Armed Infant with Spinal Dysraphism
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Aynur Solak, Sonnaz Ergün, İpek Polat, Neslın Şahin, and Berhan Genç
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Pediatrics ,RJ1-570 - Abstract
An ectopic or accessory limb attached to the back is an extremely rare and strange condition, and there are only a few documented cases in the worldwide literature. The first case was described by Jones and Larkin (1889). There are several theories regarding the origin of this condition. Asymmetric conjoined twinning which is located dorsally in the vertebral column (rachipagus) is the most probable diagnosis of our patient. Conjoined twinning is very rare and the incidence is 1 per 50 000 live births. Rachipagus is even rarer, with no more than 30 case reports so far (Chadha et al. (1993, 2006)). In this report, we present a patient who underwent successful surgical excision of a third arm attached to the back in the midline over the low-dorsal region. Differential diagnoses including teratoma and fetus in fetu are discussed.
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- 2012
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34. Cerebellar volume in early-onset schizophrenia and its association with severity of symptoms
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Selim Karabekir, Serkan Turan, Burcu Serim Demirgören, Goksin Nilufer Yonguc, Nuket Mas, Aylin Özbek, Özlem Gencer Kidak, Bari Ay, Ayşe Semra Hız, and Ayşe İpek Polat
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Male ,Cerebellum ,Pathology ,medicine.medical_specialty ,Medicine (General) ,cerebellum ,Adolescent ,Clinical Research Reports ,Pharmacology toxicology ,Stereology ,030204 cardiovascular system & hematology ,Biochemistry ,Severity of Illness Index ,03 medical and health sciences ,0302 clinical medicine ,R5-920 ,medicine ,Humans ,Age of Onset ,Association (psychology) ,Cerebrum ,Retrospective Studies ,Psychiatric Status Rating Scales ,medicine.diagnostic_test ,Early onset schizophrenia ,business.industry ,Biochemistry (medical) ,Positive and Negative Syndrome Scale (PANSS) ,Magnetic resonance imaging ,Early-onset schizophrenia ,general functionality ,Cell Biology ,General Medicine ,Organ Size ,medicine.disease ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,nervous system ,Schizophrenia ,030220 oncology & carcinogenesis ,stereology ,Female ,business - Abstract
ObjectivesThis study aimed to investigate whether early-onset schizophrenia (EOS) cases differ from controls regarding volumes of the total cerebellum and the right and left cerebellar hemispheres, and volumetric asymmetry. Correlations of cerebellar volumes and asymmetry indices with severity of symptoms and general functioning in cases of EOS were also assessed.MethodsAdolescents with EOS (n = 23) were compared with controls (n = 23). Sociodemographic and clinical data, and magnetic resonance imaging scans that were acquired for routine clinical purposes were collected retrospectively. Cerebellar volumes were evaluated using the stereological method. Asymmetry indices were subsequently calculated. Scores of the Positive and Negative Syndrome Scale and the Children’s Global Assessment Scale were used to assess the severity of symptoms and general functionality.ResultsThere were no significant differences in any of the cerebellar volumes and asymmetry indices between the two groups. Neither cerebellar volumes nor asymmetry indices were correlated with the severity of symptoms and general functionality in EOS.ConclusionsOur findings suggest that the early-onset form of schizophrenia does not show apparent volumetric changes of the cerebellum. Additionally, the neural circuits involved in formation of symptomatology may not reflect any correlation with cerebellar volumes at mid-adolescence.
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- 2018
35. Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats
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Uluç Yiş, Pinar Edem, Semra Hız Kurul, Meryem Çalışır, Cem Paketçi, Osman Yilmaz, Erhan Bayram, Serap Cilaker Micili, Kazim Tugyan, Derya Okur, İpek Polat, and Müge Ayanoğlu
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0301 basic medicine ,Lacosamide ,Hippocampus ,Apoptosis ,Status epilepticus ,Pharmacology ,Hyperoxia ,Biochemistry ,Neuroprotection ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Memantine ,medicine ,Animals ,Rats, Wistar ,Neurons ,business.industry ,Brain ,General Medicine ,respiratory system ,respiratory tract diseases ,030104 developmental biology ,medicine.anatomical_structure ,Neuroprotective Agents ,Animals, Newborn ,Brain Injuries ,cardiovascular system ,Neuron ,medicine.symptom ,Neuron death ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
In neonates supraphysiological oxygen therapy has been demonstrated to cause neuronal death in hippocampus, prefrontal cortex, parietal cortex, and retrosplenial cortex. There is a need for the detection of novel neuroprotective drugs. Neuroprotective effects of lacosamide or memantine have been demonstrated in adult patients with ischemia, trauma and status epilepticus. The effects in immature brains may be different. This study aimed to evaluate neuroprotective effects of lacosamide and memantine treatment in a hyperoxia-induced brain injury model in immature rats. This study was performed in the Animal Experiments Laboratory of Dokuz Eylul University Faculty of Medicine. Neonatal Wistar strain rat pups were exposed to hyperoxia (80% oxygen + 20% nitrogen) for five days postnatally. They were divided into five groups; hyperoxia + lacosamide, hyperoxia + memantine, hyperoxia + lacosamide and memantine, hyperoxia + saline, control groups. After termination of the experiment, brain tissues were examined. Neuron counting in examined regions were found to be higher in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups than hyperoxia + saline group. The presence of apoptotic cells evaluated with TUNEL and active Caspase-3 in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups were found to be lower compared to hyperoxia + saline group. This study demonstrates that neuron death and apoptosis in newborn rat brains after hyperoxia is reduced upon memantine treatment. This is the first study to show the effects of memantine and lacosamide on hyperoxia-induced damage in neonatal rat brains.
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- 2019
36. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
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Kurul, Semra Hiz, Oktay, Yavuz, Töpf, Ana, Szabó, Nóra Zs, Güngör, Serdal, Yaramis, Ahmet, Sonmezler, Ece, Matalonga, Leslie, Yis, Uluc, Schon, Katherine, Paramonov, Ida, Kalafatcilar, İpek Polat, Gao, Fei, Rieger, Aliz, Arslan, Nur, Yilmaz, Elmasnur, Ekinci, Burcu, Edem, Pinar Pulat, Aslan, Mahmut, and Özgör, Bilge
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GENETIC mutation ,GENOMES ,GENOTYPES ,RESEARCH funding ,GENETIC techniques ,CONSANGUINITY ,GENEALOGY ,PHENOTYPES - Abstract
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families recruited in three Turkish hospitals between 2016 and 2020. All patients underwent deep phenotyping and trio whole exome sequencing, and data were integrated in advanced international bioinformatics platforms. We detected causative variants in 119 known disease genes in 72% of families. Due to overlapping phenotypes 52% of the confirmed genetic diagnoses would have been missed on targeted diagnostic gene panels. Likely pathogenic variants in 27 novel genes in 14% of the families increased the diagnostic yield to 86%. Eighty-two per cent of causative variants (141/172) were homozygous, 11 of which were detected in genes previously only associated with autosomal dominant inheritance. Eight families carried two pathogenic variants in different disease genes. De novo (9.3%), X-linked recessive (5.2%) and compound heterozygous (3.5%) variants were less frequent compared to non-consanguineous populations. This cohort provided a unique opportunity to better understand the genetic characteristics of neurogenetic diseases in a consanguineous population. Contrary to what may be expected, causative variants were often not on the longest run of homozygosity and the diagnostic yield was lower in families with the highest degree of consanguinity, due to the high number of homozygous variants in these patients. Pathway analysis highlighted that protein synthesis/degradation defects and metabolic diseases are the most common pathways underlying paediatric neurogenetic disease. In our cohort 164 families (86%) received a diagnosis, enabling prevention of transmission and targeted treatments in 24 patients (10%). We generated an important body of genomic data with lasting impacts on the health and wellbeing of consanguineous families and economic benefit for the healthcare system in Turkey and elsewhere. We demonstrate that an untargeted next generation sequencing approach is far superior to a more targeted gene panel approach, and can be performed without specialized bioinformatics knowledge by clinicians using established pipelines in populations with high rates of consanguinity. [ABSTRACT FROM AUTHOR]
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- 2022
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37. Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights
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Derya Okur, Ayşe Tosun, Haluk Topaloglu, Andrew G. Engel, Ayşe İpek Polat, Sanem Yilmaz, Gul Serdaroglu, Uluç Yiş, Banu Anlar, Sebahattin Cirak, Gökhan Uyanik, Goknur Haliloglu, Semra Hız Kurul, Erhan Bayram, Kerstin Becker, Müge Ayanoğlu, Çocuk Sağlığı ve Hastalıkları, and Ege Üniversitesi
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Male ,0301 basic medicine ,Pediatrics ,Turkey ,Neuromuscular transmission ,Muscle Proteins ,Receptors, Nicotinic ,0302 clinical medicine ,congenital myasthenic syndromes ,Cholinesterases ,Medicine ,Receptors, Cholinergic ,Turk ,Longitudinal Studies ,Child ,health care economics and organizations ,Exome sequencing ,Child, Preschool ,Acetylcholinesterase ,Female ,Collagen ,PubMed ,medicine.medical_specialty ,Adolescent ,Myosins ,Article ,genetic diagnosis ,03 medical and health sciences ,Exome Sequencing ,Humans ,Retrospective Studies ,Acetylcholine receptor ,Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) ,Myasthenic Syndromes, Congenital ,business.industry ,Genetic heterogeneity ,Infant ,Receptor Protein-Tyrosine Kinases ,Retrospective cohort study ,030104 developmental biology ,Mutation ,Pediatrics, Perinatology and Child Health ,Neurosciences & Neurology ,Neurology (clinical) ,GFPT1 gene ,business ,Genetic diagnosis ,030217 neurology & neurosurgery ,Myasthenic syndromes - Abstract
WOS: 000404044200010, PubMed ID: 28464723, Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylul University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders., NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [NS6277]; German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe), The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Genetic studies performed in AGE's laboratory were supported by NIH Grant NS6277. SC is funded by the German Research Foundation (DFG) (Emmy Noether Arbeitsgruppe).
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- 2017
38. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA
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Semra Hız Kurul, Pakize Karaoglu, Matthias Pergande, Lena Willkomm, Ayşe İpek Polat, Duygu Selcen, Haicui Wang, Erdener Özer, Uluç Yiş, Ayca Ersen, Raul Heredia, Nicolas Quizon, and Sebahattin Cirak
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Male ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Weakness ,Neck muscle weakness ,Posture ,Disease ,030105 genetics & heredity ,Muscular Dystrophies ,Diagnosis, Differential ,LMNA ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,medicine ,Humans ,Respiratory system ,biology ,business.industry ,Muscles ,Brain ,Infant ,General Medicine ,Lamin Type A ,medicine.disease ,White Matter ,Child, Preschool ,Mutation ,Pediatrics, Perinatology and Child Health ,biology.protein ,Congenital muscular dystrophy ,Physical therapy ,Creatine kinase ,Neurology (clinical) ,medicine.symptom ,business ,Head ,030217 neurology & neurosurgery ,Lamin - Abstract
Background: Dropped head syndrome is an easily recognizable clinical presentation of Laurin A/C-related congenital muscular dystrophy. Patients usually present in the first year of life with profound neck muscle weakness, dropped head, and elevated serum creative kinase. Case description: Two patients exhibited head drop during infancy although they were able to sit independently. Later they developed progressive axial and limb-girdle weakness. Creatine kinase levels were elevated and muscle biopsies of both patients showed severe dystrophic changes. The distinctive clinical hallmark of the dropped head led us to the diagnosis of Lamin A/C-related congenital muscular dystrophy, with a pathogenic de novo mutation p.Glu3ldel in the head domain of the Lamin A/C gene in both patients. Remarkably, one patient also had a central involvement with white matter changes on brain magnetic resonance imaging. Conclusion: Lamin A/C-related dropped-head syndrome is a rapidly progressive congenital muscular dystrophy and may lead to loss of ambulation, respiratory insufficiency, and cardiac complications. Thus, the genetic diagnosis of dropped-head syndrome as L-CMD and the implicated clinical care protocols are of vital importance for these patients. This disease may be underdiagnosed, as only a few genetically confirmed cases have been reported. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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- 2017
39. Investigation of possible antidiabetic effects of potentilla fulgens in diabetic rats and comparison with other antidiabetics
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İpek, Polat, Taşdemir, Ezel, Koçyiğit, Yüksel, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Ruh Sağlığı ve Hastalıkları Ana Bilim Dalı, and Koçyiğit, Yüksel
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Diabetes mellitus ,Traditional medicine ,Gliclazide ,Potentilla fulgens ,Biology ,Metformin - Abstract
Introduction: The current antidiabetic drugs have adverse side effects and the effects may decrease overtime depending oncontinuous use. In recent years, phytochemicals of natural plant origin, which show antidiabetic properties and have fewerside effects, have been the subject of research. However, studies and clinical studies on the antidiabetic and hypoglycemiceffects of Potentilla fulgens are still not enough. We aimed to examine the antidiabetic effects of P. fulgens in diabetic ratsand to contribute to new treatment approaches by comparing them with other antidiabetics.Methods: In this study, rats were divided into seven groups, one control and six diabetic groups as seven rats in each group.The rats in which diabetes was induced by streptozotocin were sacrificed after treatment with two different doses of intraperitonealand intragastric P. fulgens and standard antidiabetic drugs, metformin and gliclazide for 3 weeks.Results: Intraperitoneal administration of P. fulgens significantly improved the activity of liver enzymes related to fastingblood glucose levels and carbohydrate metabolism. Intragastric 450 mg/kg/day P. fulgens did not show adequate antidiabeticeffects. However, P. fulgens administered twice the usual dose (900 mg/kg/day) caused significant antidiabetic effects.Compared with metformin and gliclazide, it was found that P. fulgens had similar effects at high doses.Discussion and Conclusion: According to our findings, P. fulgens improves the activity of liver enzymes related to bloodglucose and glucose metabolism in diabetic rats and has significant antidiabetic effects.
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- 2019
40. Inflammation and anemia in simple febrile seizures and complex febrile seizures
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Ceren Cıralı, Semra Hiz, İpek Polat, Pakize Karaoglu, Müge Ayanoğlu, Uluç Yiş, and Erhan Bayram
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medicine.medical_specialty ,medicine.diagnostic_test ,Mean corpuscular hemoglobin concentration ,business.industry ,Anemia ,Lymphocyte ,Red blood cell distribution width ,General Medicine ,Hematocrit ,medicine.disease ,Gastroenterology ,medicine.anatomical_structure ,Febrile seizure ,Internal medicine ,medicine ,Mean platelet volume ,business ,Mean corpuscular volume - Abstract
Aim: This is a unique study that aimed to determine anemia and inflammatory status in simple febrile seizure vs complex febrileseizure patients. Neutrophil/lymphocyte ratio and platelet/lymphocyte ratio are positively correlated with inflammatory markersincluding TNF alpha and IL-6. They are practical, inexpensive, and valuable tools for evaluating inflammation.Materials and Methods: Patients presenting with first febrile seizures were enrolled retrospectively. We investigated hemoglobin,hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration and red blood cell distribution width valuesand white blood cell count, neutrophil, lymphocyte count, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean plateletvolume, C - reactive protein.Results: Our study showed that higher neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and lower mean platelet volumevalues in complex febrile seizure cases than simple febrile seizure cases. We determined cut-off values for neutrophil/lymphocyteratio, platelet/lymphocyte ratio, and mean platelet volume of 2.5, 10523.3, and 7.3 respectively.Conclusion: High neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and low mean platelet volume values can help distinguishsimple febrile seizure and complex febrile seizure patients and predict the clinic. The optimal cut-off values that we determined mayguide clinicians.
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- 2021
41. Changes of primary headache related white matter lesions in pediatric patients
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Semra Hiz, Derya Okur, İpek Polat, Banu Anlar, Handan Cakmakci, Uluç Yiş, Erhan Bayram, Cem Paketçi, and Çocuk Sağlığı ve Hastalıkları
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Male ,medicine.medical_specialty ,Adolescent ,Turkey ,Aura ,Pediatrics ,03 medical and health sciences ,0302 clinical medicine ,Primary headache ,Neuroimaging ,medicine ,Humans ,030212 general & internal medicine ,Child ,medicine.diagnostic_test ,business.industry ,Headache ,Magnetic resonance imaging ,medicine.disease ,Prognosis ,Magnetic Resonance Imaging ,White Matter ,Hyperintensity ,Migraine with aura ,Migraine ,Pediatrics, Perinatology and Child Health ,Laterality ,Disease Progression ,Female ,Radiology ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
Bayram E, Yis U, Paketci C, Okur D, Polat I, Cakmakci H, Hiz S, Anlar B. Changes of primary headache related white matter lesions in pediatric patients. Turk J Pediatr 2018; 60: 380-384. We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific white matter lesions on magnetic resonance imaging were included in the study. The clinical findings of the patients were reinvestigated using the same magnetic resonance imaging scanner and acquisition protocol after at least a two year period. Magnetic resonance imaging results of the patients were documented in detail. Findings of the baseline and follow-up studies were compared with each other by the same radiologist. Among the 11 patients, 8 ( 72.7%) were male and 3 (27.3%) were female. Mean age of patients at the time of second imaging was 12.9±2.3 years. Eight (72.7%) had migraine without aura, 1 (9.1%) had tension-type headache and 2 (18.2%) had migraine with aura. The mean clinical follow-up period of the patients was 4.31±1.31 years. All patients had low headache frequency on the last control visit when compared to the first clinical findings. The follow-up magnetic resonance imaging studies showed two newly developed white matter lesions in two patients who had migraine without aura and the white matter lesions disappeared in the patient who had tension-type headache, compared to the baseline neuroimaging. Findings of the baseline and long-term follow-up magnetic resonance imaging studies of the patients with primary headache showed no significant changes in terms of the location, size and laterality. Repeated neuro-imaging studies are not warranted in the absence of the progression in clinical findings.
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- 2018
42. Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies
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Katharina Vezyroglou, Olafur Th Magnusson, Susanne Motameny, Janine Altmueller, Salem Alawbathani, Reza Maroofian, Bertold Schrank, Uluç Yiş, Irmgard Hölker, Raoul Heller, Janbernd Kirschner, Leyla Naghiyeva, Lea Schmitz-Steinkrüger, Mert Karakaya, Eike A. Strathmann, Brunhilde Wirth, Holger Thiele, Derya Okur, Peter Nürnberg, Markus Storbeck, Ayşe İpek Polat, Ehsan Ghayoor Karimiani, Gilbert Wunderlich, Haluk Topaloglu, Didem Ardicli, Andrea Delle Vedove, and Reza Boostani
- Subjects
0301 basic medicine ,Adult ,Male ,Adolescent ,SMN1 ,Biology ,medicine.disease_cause ,Bioinformatics ,Muscular Atrophy, Spinal ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Atrophy ,Exome Sequencing ,Genetics ,medicine ,Humans ,Point Mutation ,Age of Onset ,Pathology, Molecular ,Child ,Exome ,Genetics (clinical) ,Sequence Deletion ,Mutation ,Whole Genome Sequencing ,Homozygote ,High-Throughput Nucleotide Sequencing ,Infant ,Spinal muscular atrophy ,Exons ,Neuromuscular Diseases ,Middle Aged ,medicine.disease ,SMA ,Spinal muscular atrophies ,Survival of Motor Neuron 1 Protein ,Hypotonia ,030104 developmental biology ,Child, Preschool ,Female ,medicine.symptom ,030217 neurology & neurosurgery - Abstract
Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA submitted for SMN1 testing to our routine diagnostic laboratory, 48.8% carried a homozygous SMN1 deletion, 2.8% a subtle mutation, and an SMN1 deletion, whereas 48.4% remained undiagnosed. Recently, several other genes implicated in SMA/LMND have been reported. Despite several efforts to establish a diagnostic algorithm for non-5q-SMA (SMA without deletion or point mutations in SMN1 [5q13.2]), data from large-scale studies are not available. We tested the clinical utility of targeted sequencing in non-5q-SMA by developing two different gene panels. We first analyzed 30 individuals with a small panel including 62 genes associated with LMND using IonTorrent-AmpliSeq target enrichment. Then, additional 65 individuals were tested with a broader panel encompassing up to 479 genes implicated in neuromuscular diseases (NMDs) with Agilent-SureSelect target enrichment. The NMD panel provided a higher diagnostic yield (33%) than the restricted LMND panel (13%). Nondiagnosed cases were further subjected to exome or genome sequencing. Our experience supports the use of gene panels covering a broad disease spectrum for diseases that are highly heterogeneous and clinically difficult to differentiate.
- Published
- 2018
43. Retrospective analysis of children with myelin oligodendrocyte glycoprotein antibody-related disorders
- Author
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İpek Polat, Bahadır Konuşkan, Tamer Çelik, Tuncay Derya Okur, Zeynep Öztürk, Sema Saltik, Banu Anlar, Hulya Kayilioglu, Gülşen Köse, Rahsan Gocmen, Arzu Yilmaz, Şakir Altunbaşak, Mustafa Kömür, Huseyin Kilic, Kıvılcım Gücüyener, Mirac Yildirim, and Çukurova Üniversitesi
- Subjects
Male ,Pediatrics ,Turkey ,Neuritis ,Neuroimmunology ,Demyelinating Autoimmune Diseases, CNS ,0302 clinical medicine ,immune system diseases ,Recurrence ,Demyelinating disease ,Child ,biology ,Encephalomyelitis, Acute Disseminated ,Neuromyelitis Optica ,hemic and immune systems ,General Medicine ,Magnetic Resonance Imaging ,White Matter ,Neurology ,Child, Preschool ,Acute disseminated encephalomyelitis ,Female ,MRI ,medicine.medical_specialty ,Optic Neuritis ,Adolescent ,Myelitis ,Myelin oligodendrocyte glycoprotein ,03 medical and health sciences ,030225 pediatrics ,medicine ,Humans ,Optic neuritis ,Antibody ,Autoantibodies ,Retrospective Studies ,Neuromyelitis optica ,business.industry ,Multiple sclerosis ,Infant ,medicine.disease ,nervous system diseases ,Demyelinating diseases ,nervous system ,Immunoglobulin G ,biology.protein ,Myelin-Oligodendrocyte Glycoprotein ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Brain Stem - Abstract
PubMedID: 30212767 Background: Knowledge has been expanding on myelin oligodendrocyte glycoprotein (MOG) antibody-associated central nervous system disorders. We delineate the clinical and paraclinical findings and outcome of our pediatric patients with MOG antibody seropositive disease. Methods: We retrospectively analyzed the clinical presentation, cerebrospinal fluid findings, magnetic resonance imaging (MRI) studies, course and outcome of children seropositive for anti-MOG IgG. Results: Total 20 children with neurological symptoms and serum anti-MOG IgG were identified from six centers in Turkey. Median age at onset was 9 years (mean 8.8 ± 5.0 years, range: 1.5–16.5 years). Final diagnoses were acute disseminated encephalomyelitis (ADEM) (n = 5), ADEM + optic neuritis (n = 4), neuromyelitis optica spectrum disorder (NMOSD) (n = 3), myelitis (n = 2), relapsing optic neuritis (n = 2), multiphasic DEM (n = 3), and unclassified relapsing demyelinating disease (n = 1). Seven/20 (35%) children experienced a single episode while 13/20 (65%) had a least one relapse during follow-up. On MRI, subcortical white matter, brainstem, and corpus callosum were preferentially involved regions. Full recovery was observed in 15/20 (75%) children. Conclusion: MOG autoimmunity in children has a wide clinical spectrum, tendency to relapse, and a favourable outcome compared with other relapsing demyelinating diseases. © 2018
- Published
- 2018
44. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
- Author
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He Huang, Pasquale Striano, Johanna M. van Hagen, Ayşe İpek Polat, Nafise Amiri, Vincenzo Salpietro, Peter Nürnberg, Shereen G. Ghosh, Marjan M. Weiss, Joseph G. Gleeson, Sebahattin Cirak, Mehran Beiraghi Toosi, Valentina Stanley, Mert Karakaya, Stephanie Efthymiou, Mohammad Doosti, Tuncay Derya Okur, Haicui Wang, Carlo Minetti, Gabriel G. Haddad, Lihadh Al-Gazali, Reza Maroofian, Kerstin Becker, Ugur Akpulat, Guoliang Chai, Michael G. Hanna, Brunhilde Wirth, Keith K. Vaux, Tracy Dixon-Salazar, Ehsan Ghayoor Karimani, Quinten Waisfisz, Janine Altmüller, Nicole I. Wolf, Henry Houlden, Uluç Yiş, Andreea Manole, Livia Pisciotta, Holger Thiele, Elisa De Grandis, Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and Amsterdam Reproduction & Development (AR&D)
- Subjects
0301 basic medicine ,SUDEP ,Excitotoxicity ,Cellular homeostasis ,Neurodegenerative ,medicine.disease_cause ,ADP-ribosylhydrolase ,Medical and Health Sciences ,2.1 Biological and endogenous factors ,oxidative stress ,Aetiology ,Exome ,Genetics (clinical) ,Genetics ,Pediatric ,Genetics & Heredity ,PARG ,Neurodegeneration ,neurodegeneration ,Biological Sciences ,3. Good health ,Cell biology ,Neurological ,medicine.symptom ,ADP-ribosylation ,poly-ADP ribose ,Ataxia ,Poly ADP ribose polymerase ,Biology ,03 medical and health sciences ,Rare Diseases ,Report ,ARH3 ,medicine ,ADPRHL2 ,Epilepsy ,business.industry ,Stress induced ,ataxia ,Neurosciences ,Correction ,Regret ,epilepsy ,neuropathy ,medicine.disease ,Human genetics ,Brain Disorders ,030104 developmental biology ,business ,Oxidative stress - Abstract
ADP-ribosylation, the addition of poly-ADP ribose (PAR) onto proteins, is a response signal to cellular challenges, such as excitotoxicity or oxidative stress. This process is catalyzed by a group of enzymes referred to as poly(ADP-ribose) polymerases (PARPs). Because the accumulation of proteins with this modification results in cell death, its negative regulation restores cellular homeostasis: a process mediated by poly-ADP ribose glycohydrolases (PARGs) and ADP-ribosylhydrolase proteins (ARHs). Using linkage analysis and exome or genome sequencing, we identified recessive inactivating mutations in ADPRHL2 in six families. Affected individuals exhibited a pediatric-onset neurodegenerative disorder with progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections. Loss of the Drosophila paralog Parg showed lethality in response to oxidative challenge that was rescued by human ADPRHL2, suggesting functional conservation. Pharmacological inhibition of PARP also rescued the phenotype, suggesting the possibility of postnatal treatment for this genetic condition.
- Published
- 2018
45. Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant
- Author
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Engin Kose, Müge Ayanoğlu, Derya Erçal, Semra Hız Kurul, Nur Arslan, Esra Ataman, Özlem Giray Bozkaya, Semra Gürsoy, and Ayşe İpek Polat
- Subjects
Genetics ,business.industry ,Turkish ,Pediatrics, Perinatology and Child Health ,Glycine ,language ,Medicine ,Identification (biology) ,Gene deletion ,business ,language.human_language - Published
- 2018
46. An 11-Year-Old Boy with Headache, Fever, and Neck Pain
- Author
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Muge Ayanaoglu, Uluç Yiş, Erbil Unsal, Semra Hız Kurul, Ayse Aydan Ozkutuk, İpek Polat, and Pakize Karaoglu
- Subjects
Male ,Neck pain ,medicine.medical_specialty ,Neck Pain ,Fever ,biology ,business.industry ,Antitubercular Agents ,Headache ,Mycobacterium tuberculosis ,biology.organism_classification ,Diagnosis, Differential ,Tomography x ray computed ,Tuberculosis, Meningeal ,Pediatrics, Perinatology and Child Health ,medicine ,Physical therapy ,Humans ,Radiology ,medicine.symptom ,Differential diagnosis ,Child ,Tomography, X-Ray Computed ,business - Published
- 2015
47. Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD)
- Author
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Arend Bökenkamp, Kira Y. Dionis-Petersen, Lan Xiang Liu, Neeraja Kambham, Helen Fryssira, Ayşe İpek Polat, Mattia Gentile, C. Nur Semerci, Tracy E. Hunley, Katarina Mitrovic, Behzad Najafian, Radovan Bogdanovic, Mrinmoy Sanyal, Uluç Yiş, Encarna Guillen-Navarro, Katie Felix, Marie Morimoto, Christy Mayfield, Alireza Baradaran-Heravi, Thomas Lücke, Susan A. Berry, Cornelius F. Boerkoel, David B. Lewis, Kent P. Jensen, Kunho Choi, Lydia Najera, Giuliana Lama, Suparna Dutt, Michel Tsimaratos, Ann Haskins Olney, Benjamin Dekel, Milena Brugnara, Pediatric surgery, and ICaR - Circulation and metabolism
- Subjects
Nephrotic Syndrome ,SMARCAL1 protein, human ,Arteriosclerosis ,T-Lymphocytes ,interleukin 7 receptor alpha ,Gene Expression ,Gene mutation ,SIOD ,preschool child ,T-cell immunodeficiency ,0302 clinical medicine ,chondrodysplasia ,mononuclear cell ,T lymphocyte ,Immunology and Allergy ,genetics ,exon ,gene mutation ,Child ,Promoter Regions, Genetic ,Immunodeficiency ,Cells, Cultured ,0303 health sciences ,clinical article ,DNA methylation ,messenger RNA ,Reverse Transcriptase Polymerase Chain Reaction ,adult ,Interleukin-17 ,Flow Cytometry ,Immunohistochemistry ,IL7R? ,3. Good health ,Adolescent ,Adult ,Arteriosclerosis/*genetics/metabolism/pathology ,Child, Preschool ,DNA Helicases/genetics ,DNA Methylation ,Humans ,Immunologic Deficiency Syndromes/*genetics/metabolism/pathology ,Interleukin-17/pharmacology ,Leukocytes, Mononuclear/drug effects/metabolism ,Mutation ,Nephrotic Syndrome/*genetics/metabolism/pathology ,Osteochondrodysplasias/*genetics/metabolism/pathology ,Primary Immunodeficiency Di ,priority journal ,young adult ,Interleukin 17 ,schimke immuno osseous dysplasia ,T-Cell Immunodeficiency ,IL7Rα ,lung embolism ,Primary Immunodeficiency Diseases ,Immunology ,interleukin-7 receptor, alpha chain ,DNA sequence ,DNA helicase ,Biology ,interleukin 7 ,Osteochondrodysplasias ,Article ,Promoter DNA methylation ,reverse transcription polymerase chain reaction ,03 medical and health sciences ,promoter region ,CpG ,medicine ,controlled study ,human ,Interleukin-7 receptor ,protein expression ,030304 developmental biology ,cell culture ,Receptors, Interleukin-7 ,autosomal recessive disorder ,human cell ,Schimke immuno-osseous dysplasia ,DNA Helicases ,Immunologic Deficiency Syndromes ,Sequence Analysis, DNA ,immune deficiency ,medicine.disease ,school child ,human tissue ,CD127 ,Dysplasia ,interleukin 7 receptor ,drug effects ,Leukocytes, Mononuclear ,pathology ,interleukin 17 ,Pulmonary Embolism ,metabolism ,030217 neurology & neurosurgery - Abstract
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7R alpha) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7R alpha expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients. (C) 2015 Elsevier Inc. All rights reserved.
- Published
- 2015
48. Nerve Conduction Studies in Type 1 Diabetes Mellitus
- Author
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S. Hız Kurul, Müge Ayanoğlu, Derya Okur, İpek Polat, Erhan Bayram, Cem Paketçi, Hale Tuhan, Uluç Yiş, and Pinar Edem
- Subjects
Type 1 diabetes ,medicine.medical_specialty ,business.industry ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,Cardiology ,Neurology (clinical) ,General Medicine ,Nerve conduction ,medicine.disease ,business - Published
- 2017
49. Riboflavin responsive neuromusculary disorders broad phenotypic spectrum and importance of genetic analysis
- Author
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Uluç Yiş, Semra Hız Kurul, Janine Altmüller, Brunhilde Wirth, Sebahattin Cirak, Mert Karakaya, Pinar Edem, Ceren Cıralı, Erhan Bayram, Müge Ayanoğlu, Cem Paketçi, Peter Nürnberg, Derya Okur, İpek Polat, and Kerstin Becker
- Subjects
Genetics ,Pediatrics, Perinatology and Child Health ,Riboflavin ,Neurology (clinical) ,General Medicine ,Biology ,Phenotype - Published
- 2017
50. Anti-MOG positive pediatric cases with diverse clinical spectrum in demyelinating disorders
- Author
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Derya Okur, İpek Polat, Uluç Yiş, Erhan Bayram, Pakize Karakaya, Tülay Öztürk, Semra Hız Kurul, Müge Ayanoğlu, Cem Paketçi, Pinar Edem, and Handan Güleryüz
- Subjects
business.industry ,Pediatrics, Perinatology and Child Health ,Immunology ,Medicine ,Neurology (clinical) ,General Medicine ,business ,Demyelinating Disorder - Published
- 2017
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