Person: AKYÜZ, ENES
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Publication Metadata only Follow up four cerebrotendinous xanthomatosis patients importance of early diagnosis and treatment.(2017-05-30) DUMAN, NİLGÜN; AKYÜZ, ENES; GEÇKİNLİ, BİLGEN BİLGE; ZUBARİOĞLU, T; YEŞİL, GÖZDE; DUMAN, NİLGÜN; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Open Access Evaluation of the parents' anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support(2021-09-01T00:00:00Z) Kolemen, Ayse B.; Akyuz, Enes; TOPRAK, ALİ; Deveci, Erdem; YEŞİL SAYIN, Gözde; AKYÜZ, ENES; TOPRAK, ALİ; DEVECİ, ERDEMBackground: The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining genetic test results is varies. The demand to learn the diagnosis of a possible untreatable illness involves a struggle between uncertainty and a lifetime chronic disease. The current uncertainty of their child's condition and the long wait for a diagnosis may increase the parents' anxiety level and cause difficulties in the continuation of diagnostic procedures in some families. This study aimed to investigate the prediagnosis and postdiagnosis anxiety levels of parents who have a child with a rare genetic disease. Method: The parents in this study, mothers or fathers, admitted their children to the Bezmialem Vakıf University Medical Genetics Clinic due to a suspected rare genetic disease (n = 40). Researchers created "The Sociodemographic Questionnaire" and used it to analyze the parents' sociodemographic status. In addition, they used the State-Trait Anxiety Inventory (STAI) to determine the anxiety levels of the parents. Results: The state anxiety levels of parents decreased significantly after learning the diagnosis. However, there was no statistically significant decrease observed in trait anxiety levels. Conclusion: Data from this study revealed that informing parents about their child's disease and properly explaining to them the expected difficulties might help to reduce their anxiety levels. Psychological support for parents is necessary to reduce their long-term stress, thus increasing the patient's compliance with treatment.Publication Metadata only Accumulation of cardiac inwardly rectifier potassium channels in a rat model of epilepsy(2017-07-01) AKYÜZ, ENES; MEGA TİBER, PINAR; ERCAN, ÇİLEM; AKBAŞ, FAHRİ; AKYÜZ, ENES; ERCAN, ÇİLEM; AKBAŞ, FAHRİPublication Metadata only Deneysel epilepsi modelinde böbrekte bulunan Aquaporin4 ve Aquaporin2 kanallarının gen ekspresyonları(2018-01-01) AKYÜZ, ENES; AKBAŞ, FAHRİ; AKYÜZ, ENES; AKBAŞ, FAHRİPublication Metadata only Change of ST segment in ECG recording and its relation with potassium channels in experimental epilepsy model induced in rats(2017-03-03) AKYÜZ, ENES; MEGA TİBER, PINAR; YEŞİL, GÖZDE; AKYÜZ, ENES; YEŞİL, GÖZDEPublication Open Access Expression of cardiac inwardly rectifying potassium channels in pentylenetetrazole kindling model of epilepsy in rats(2018-12-01) MEGA TİBER, PINAR; AKYÜZ, ENES; KARAKAŞ, MERVE; AKBAŞ, FAHRİ; AKYÜZ, ENES; BEKER, MERVE; AKBAŞ, FAHRİClinical and experimental studies show that epilepsy affects cardiac function; however, the underlying molecular mechanism has not been fully elucidated. Inwardly-rectifying potassium (Kir) channels transport K+ ions into excitable cells such as neurons and cardiomyocytes; they control the cell excitability by acting towards the repolarization phase of cardiac action potential. Kir channel expression has been previously shown to vary in epileptic brains, at the same time seizures are known to affect the autonomic nervous system. Kir channel expression in cardiac tissue is a possible mechanism for the explanation of cardiac pathology in epilepsy. We investigate the expression of Kir channels in epileptic cardiac tissue by using pentylenetetrazole (PTZ)-kindling model in rats. Our molecular analyses showed significant decrease in cardiac Kir channel mRNA and protein expression of PTZ-kindled rats. Interestingly, both Kir2.x, which directs I-K1 flux in ventricular tissue and Kir3.x, which is responsible for I-KACh in the atria, were observed to decrease significantly. Kir channel expression also differs between females and males. This is the first study to our knowledge in epileptic cardiac tissue showing the expression of Kir channels. Our results show that Kir channels may play a role in cardiac pathology associated with epilepsy.Publication Metadata only Examination of ECG recording and cardiac potassium channels- genes in a mice model of demyelination(2017-07-01) AKYUZ, ENES; ERCAN, C.; AKBAS, FAHRİ; TOK, O. E.; Esrefoglu, MUKADDES; AKYÜZ, ENES; ERCAN, ÇİLEM; AKBAŞ, FAHRİ; EŞREFOĞLU, MUKADDESPublication Metadata only Deneysel epilepsi modelinde kalpte bulunan içeri doğrultucu potasyum kanallarının gen ekspresyonlarının incelenmesi(2016-09-09) AKYÜZ, ENES; AKBAŞ, FAHRİ; ERCAN, ÇİLEM; YEŞİL, GÖZDE; AKYÜZ, ENES; AKBAŞ, FAHRİ; ERCAN, ÇİLEM; YEŞİL, GÖZDEPublication Open Access Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy(2018-07-01) İÇAĞASIOĞLU, DİLARA FÜSUN; YEŞİL, GÖZDE; ARALAŞMAK, AYŞE; AKYÜZ, ENES; İÇAĞASIOĞLU, DİLARA FÜSUNBackground: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. Case report: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy. Conclusion: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.Publication Metadata only The evaluation of antioxidant and anticancer effects of Lepidium Sativum Subsp Spinescens L. methanol extract on cancer cells(2018-01-01) Selek, Sahabettin; Koyuncu, Ismail; ÇAĞLAR, HİFA GÜLRU; Bektas, Ibrahim; Yilmaz, Mustafa Abdullah; Gonel, Ataman; Akyuz, ENES; SELEK, ŞAHABETTİN; ÇAĞLAR, HİFA GÜLRU; AKYÜZ, ENES