Person: AĞAN YILDIRIM, KADRİYE
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AĞAN YILDIRIM
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KADRİYE
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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 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 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.