Person: GÜNAL, DİLEK
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GÜNAL
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DİLEK
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Publication Metadata only Risk assessment of obstructive sleep apnea syndrome and other sleep disorders in multiple sclerosis patients(ELSEVIER, 2021) GÜNAL, DİLEK; Sunter, Gulin; Ozden, Hatice Omercikoglu; Vural, Ezgi; Gunal, Dilek Ince; Agan, KadriyeBackground: The aim of the present study was to determine the possible risk of OSAS in patients with MS through the STOP-BANG questionnaire, and to confirm the pre-diagnosis of OSAS by recording polysomnographic investigation in individuals with high risk. In addition, the relationship between OSAS risk and fatigue, sleepiness, depression, and disability status will be examined. Methods: Totally 97 patients with multiple sclerosis including 36 males and 61 females with an age average of 39.92 +/- 9.11 years. All participants completed the following questionnaires: STOP-Bang, Fatigue Severity Scale (FSS), Epworth sleepiness scale (ESS), Beck Depression Inventory (BDI); disability status of the participants was assessed by Expanded Disability Status Scale (EDSS). Polysomnographic sleep record was applied to the patients with high risk of OSAS according to STOP-BANG test scores. Results: The STOP_BANG questionnaire revealed that 24.7% of the patients were screened as high risk for OSA. Approximately 11.3% of the patients were detected positive for OSAS based on PSG recording. Comparison of MS patients with high risk of OSA with others suggested a significant difference in terms of the age (p = 0.01). ESS positive scores were significantly correlated with positive STOP BANG outcomes (p < 0.001). ESS positive scores were negatively correlated with positive PSG outcomes. Conclusion: The prevalence of OSAS in MS patients based on questionnaire and PSG was found consistent with literature. Similar to the general population, increasing age was found as a risk factor for OSAS in patients with MS. STOP-BANG test may not be an adequate test to diagnose OSAS, especially in MS patients with high fatigue scores.Publication Metadata only Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings(ELSEVIER SCIENCE BV, 2008) İŞAK, BARIŞ; Uluc, Kayihan; Baskan, Ozdil; Yildirim, Kadriye Agan; Ozsahin, Selda; Koseoglu, Mesrure; Isak, Baris; Scheper, G. C.; Gunal, Dilek Ince; van der Knaap, M. S.Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with autosomal recessive mode of inheritance. Lately, mutations in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase, have been found as the underlying defect. We report a 19-year-old male patient with cerebellar, pyramidal and dorsal column dysfunctions and specific magnetic resonance imaging (MRI) and characteristic magnetic resonance spectroscopy (MRS) abnormalities. The patient was compound-heterozygous for two mutations in DARS2. MRI showed selective involvement of cerebral and cerebellar white matter and superior and inferior cerebellar peduncles, without contrast enhancement. The U-fibers were spared. The sensory and the pyramidal tracts were affected over their entire length. Involvement of the intraparenchymal trajectories of the trigeminal nerves and mesencephalic trigeminal tracts was demonstrated. In the spinal cord, signal abnormalities were identified in the dorsal columns and the lateral corticospinal tracts. Proton-MRS of the frontal and cerebellar white matter showed elevated lactate, reduced N-acetylaspartate, increased myoinositol and mildly elevated choline. In LBSL, distinct MRI findings should lead to the diagnosis, which can be confirmed by the analysis of the disease gene DARS2. (c) 2008 Elsevier B.V. All rights reserved.Publication Metadata only Speech-induced primary lingual dystonia: a rare focal dystonia(SPRINGER-VERLAG ITALIA SRL, 2011) GÜNAL, DİLEK; Ozen, Banu; Gunal, Dilek Ince; Turkmen, Cigdem; Agan, Kadriye; Elmaci, Nese TuncerLingual dystonia, a type of focal dystonia that may be primary or secondary, is related to brain damage, neuroleptic use, neurodegenerative, metabolic, and neurodevelopmental disorders, varicella infection, and so on. However, primary lingual dystonia induced by speaking is a rare type of focal dystonia that is usually idiopathic in origin and is characterized by increased tonus of the tongue, which causes protrusion only during speaking. This report describes a 55-year-old male patient with lingual dystonia during speech. One interesting clinical feature of this case was that the speech disturbance improved while the patient vocalized a praise-like hymn in a manner that resembled singing.Publication Metadata only PARKİNSON HASTALIĞININ TEDAVİSİNDE SÜREKLİ LEVODOPA- KARBİDOPA BAĞIRSAK JELİ (LCIG) İNFÜZYONU İÇİN PERKÜTAN ENDOSKOPİK TRANSGASTRİK JEJUNOSTOMİ (PEG-J) TÜPÜ TAKILMASI TEKNİĞİ VE TEK MERKEZ SONUÇLARIMIZ(2021-10-30) AKMERCAN, TAYFUN; UPRAK, TEVFİK KIVILCIM; COŞKUN, MÜMİN; GÜNAL, ÖMER; GÜNAL, DİLEK; AKMERCAN T., UPRAK T. K. , COŞKUN M., GÜNAL Ö., GÜNAL D.Publication Metadata only Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders(WILEY-BLACKWELL, 2012) GÜNAL, DİLEK; Ozdilek, Betul; Uluc, Kayihan; Gunal, Dilek I.Ozdilek B, Uluc K, Gunal DI. Bilateral striopallidodentate calcinosis presenting with psychiatric symptoms and speech disorders. Background: Bilateral striopallidodentate calcinosis (BSPDC), also known as Fahr's disease, is a rare neurodegenerative disorder characterised by the deposition of calcium and other minerals in the basal ganglia, centrum semiovale and cerebellum. It is usually idiopathic. Its clinical manifestations vary from asymptomatic individuals to neuropsychiatric abnormalities, movement disorders, cerebellar symptoms and cognitive impairments. Methods: Five cases of BSPDC all of which include psychiatric symptoms and speech problems from two families are documented in this article. Conclusion: The most important diagnostic marker is the demonstration of symmetrical intracranial calcifications. Computerised tomography of the brain is the most frequently used radiologic method to diagnose BSPDC.Publication Metadata only Motor and Non-Motor Symptoms in Turkish Patients With Parkinson's Disease Affecting Family Caregiver Burden and Quality of Life(AMER PSYCHIATRIC PUBLISHING, INC, 2012) GÜNAL, DİLEK; Ozdilek, Betul; Gunal, Dilek InceParkinson's disease (PD) decreases the quality of life (QoL) of both caregivers and patients by increasing stress and burden, and it has a negative impact on their psychological state. In the present study, the authors examined the impact of PD-patient motor and non-motor clinical symptoms on the psychological health, burden, and QoL of Turkish caregivers. The study included 50 patients with PD and their caregivers. Patients' disease severity and disability, motor and non-motor symptoms, disease complications, sleep disturbances, anxiety, and depressive symptoms were assessed with various scales. Data were analyzed by multiple linear-regression models to identify variables associated with caregiver burden, psychological status, and QoL. Anxiety and depressive symptoms exhibited by the patients significantly affected the psychological state of the caregivers. Caregiver burden was increased by disease severity; the patient's degree of disability, anxiety, and depressive symptoms; and excessive daytime sleepiness. Caregiver QoL was significantly affected by the presence of dyskinesia, sialorrhea, and anxiety symptoms in patients with PD. These findings indicate that caregiving for patients with PD, particularly those in later stages, with psychiatric symptoms, affects caregiver psychological status, QoL, and caregiver burden. These results can be used to develop treatment approaches to improve caregivers' psychological status and QoL and decrease caregiver burden. (The Journal of Neuropsychiatry and Clinical Neurosciences 2012; 24:478-483)Publication Metadata only The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice(WILEY, 2021) GÜNAL, DİLEK; Vural, Atay; Simsir, Gulsah; Tekgul, Seyma; Kocoglu, Cemile; Akcimen, Fulya; Kartal, Ece; Sen, Nesli E.; Lahut, Suna; Omur, Ozgur; Saner, Nazan; Gul, Tugce; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Cetinkaya, Caroline Pirkevi; Eken, Asli Gundogdu; Sahbaz, Irmak; Koc, Muge Kovancilar; Cakmak, Ozgur Oztop; Hanagasi, Hasmet; Bilgic, Basar; Eraksoy, Mefkure; Gunduz, Aysegul; Apaydin, Hulya; Kiziltan, Gunes; Ozekmekci, Sibel; Siva, Aksel; Altintas, Ayse; Gulec, Zeynep E. Kaya; Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Tufekcioglu, Zeynep; Tekturk, Pinar; Corbali, M. Osman; Tireli, Hulya; Akdal, Gulden; Yis, Uluc; Hiz, Semra; Sengun, Ihsan; Bora, Elcin; Serdaroglu, Gul; Ozbek, Sevda Erer; Agan, Kadriye; Gunal, Dilek Ince; Us, Onder; Kurt, Semiha G.; Aksoy, Durdane; Tokcaer, Ayse Bora; Elmas, Muhsin; Gultekin, Murat; Kumandas, Sefer; Acer, Hamit; Ozcora, Gul D. Kaya; Yayla, Vildan; Soysal, Aysun; Genc, Gencer; Gulluoglu, Halil; Kotan, Dilcan; Ayas, Zeynep Ozozen; Sahin, Huseyin A.; Tan, Ersin; Topcu, Meral; Topcuoglu, Esen Saka; Akbostanci, Cenk; Koc, Filiz; Ertan, Sibel; Elibol, Bulent; Basak, A. NazliBackground The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. Objective To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. Methods Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. Results Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. Conclusion With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. (c) 2021 International Parkinson and Movement Disorder SocietyPublication Metadata only Clinical and cognitive profiles of patients with both Parkinson's disease and essential tremor(SPRINGER HEIDELBERG, 2013) GÜNAL, DİLEK; Barut, Banu Ozen; Gunal, Dilek Ince; Turkmen, Cigdem; Mollahasanoglu, Aynur; Ankarali, HandanAlthough Parkinson's disease (PD) and essential tremor (ET) are distinct clinical disorders, their coexistence can sometimes cause diagnostic problems. In this study, we conducted detailed investigations of patients with both ET and PD (ET-PD) and compared their clinical and cognitive profiles with those of patients with only ET or only PD. This study examined three groups of patients: the first group had ET-PD concomitantly (n = 9); the second group had only ET (n = 9); the third group had only PD (n = 10). The groups were compared in terms of demographic characteristics, clinical features, and cognitive functions. With the exception of positive family histories, which were more common in ET-PD than in PD patients, we found no differences among the groups with respect to demographic characteristics (p = 0.044). PD-only patients had more akinetic-rigid type Parkinsonism (p = 0.016), and their levodopa response was better than that of ET-PD patients (p = 0.017). Patients with ET-PD obtained significantly lower scores than those with pure ET on several cognitive tests, suggesting a prominent frontal-type cognitive dysfunction. In conclusion ET-PD patients differed from PD patients, showing more frequent familial tremor histories and lower levodopa responsiveness. This patient population also demonstrated more severe cognitive impairments than pure-ET patients. This result suggests that ET-PD patients are a subset of ET patients with more widespread neurodegeneration, which may indicate the presence of a syndrome that includes overlap between ET and PD.Publication Metadata only Deep brain stimulation as treatment for dystonic storm in pantothenate kinase-associated neurodegeneration syndrome: case report of a patient with homozygous C.628 2 T > G mutation of the PANK2 gene(SPRINGER WIEN, 2015) DAĞÇINAR, ADNAN; Tanrikulu, Bahattin; Ozen, Ali; Gunal, Dilek Ince; Turkdogan, Dilsad; Bayrakli, Fatih; Bayri, Yasar; Dagcinar, Adnan; Seker, AskinPantothenate kinase-associated neurodegeneration (PKAN) syndrome is an autosomal-recessive neurodegenerative disease that causes progressive generalized dystonia. Currently, the disorder remains pharmacologically intractable. Herein we report the first case in which deep brain stimulation helped to relieve dystonic storm in a patient with PKAN syndrome who had homozygous c.628 2 T > G mutation of the PANK2 gene. A 10-year-old boy with PKAN disease presented with dystonic storm and was admitted to the emergency department. Examination revealed generalized dystonia and impaired breathing due to involvement of the respiratory muscles. The patient underwent surgery for bilateral globus pallidus internus deep brain stimulation. The patient showed marked response to treatment.Publication Metadata only PSYCHOTIC DEPRESSION: A PECULIAR PRESENTATION FOR MULTIPLE SCLEROSIS(TAYLOR & FRANCIS LTD, 2009) GÜNAL, DİLEK; Agan, Kadriye; Gunal, Dilek Ince; Afsar, Nazire; Tuncer, Nese; Kuscu, KemalMultiple sclerosis (MS) is frequently associated with a number of different psychiatric syndromes. Solely psychiatric syndrome may be the first clinical presentation of multiple sclerosis. We report a patient whose first attack was psychotic depression. The present case emphasizes that psychiatric symptoms can occur at any time during the course of the disease and, moreover, may be the presenting feature.