Browsing by Author "Soysal, Aysun"
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Publication A database for screening and registering late onset pompe disease in Turkey(Elsevier, 2018-03-01) Gökyiğit, Munevver Çelik; Ekmekçi, Hakan; Durmuş, Hacer; Karlı, Necdet; Köseoğlu, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; Koytak, Pınar Kahraman; Karasoy, Hatice; Yaman, Aylin; Şengün, İhsan Şükrü; Sayın, Refah; Tiftikcioğlu, Bedile İrem; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayşe Oytun; Kisabay, Ayşin; Elçi, Mehmet Ali; Yayla, Vildan; Yılmaz, İbrahim Arda; Çzdamar, Sevim Erdem; Erdoğan, Cagdas; Taşdemir, Nebahat; Oflazer, Piraye Serdaroğlu; Turkish Study Grp Late Onset Pompe; KARLI, HAMDİ NECDET; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı; FCA-7755-2022The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey.Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.Item Akut tıkayıcı inmeli 121 hastada hematokrit değeri ile iskemik lezyonun en geniş alanı arasındaki ilişki(Uludağ Üniversitesi, 1993-11-30) Soysal, Aysun; Ataklı, Dilek; Türkay, Mine; Ezelsoy, Bessam; Arpacı, Baki; Ekit, MehmetAkut iskemik inme geçiren 121 hastada (72'si kadın, 49'u erkek) hematokrit (Hct) değeri ile BT'deki iskemik lezyonun en geniş alanı arasındaki ilişki araştırıldı. Hastaların Hct değerleri düşük (kadınlar için % 37 ve altı; erkekler için% 42 ve altı), normal (kadınlar için% 38-% 46; erkekler için % 43-%51) ve yüksek (kadınlar için % 47 ve üstü; erkekler için % 52 ve üstü) olarak üç grupta sınıflandırılır. Gruplar arasında anlamlı fark bulunmadı (F=1.501, p=0.227). Korelasyon analizi ile de Hct değerleri ile lezyonların en geniş alanları arasında ilişki yoktur (r=0.0/45 p>0.0I).Publication Comparative analysis of fingolimod versus teriflunomide in relapsing-remitting multiple sclerosis(Elsevier Sci Ltd, 2019-11-01) Boz, Cavit; Terzi, Murat; Ozer, Bilge; Türkoğlu, Recai; Karabudak, Rana; Efendi, Hüsnü; Soysal, Aysun; Sevim, Serhan; Altintaş, Ayse; Kurne, Aslı; Akcali, Aylin; Akman, Gülşen; Yüceyar, Nur; Balci, Belgin Petek; Ekmekci, Özgül; Karahan, Serap Zengin; Demirkıran, Meltem; Altunrende, Burcu; Gözübatik Çelik, Gökçen; Kale, Nilüfer; Köseoğlu, Meşrure; Özakbaş, Serkan; Turan, Ömer Faruk; TURAN, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi; JHM-3244-2023Background: Fingolimod and teriflunomide are commonly used in the treatment of relapsing-remitting multiple sclerosis (RRMS). These have not been compared in controlled trials, but only in observational studies, with inconclusive results. Comparison of their effect on relapse and disability in a real-world setting is therefore needed.Objectives: The objective of this study was to compare the efficacy of fingolimod and teriflunomide in reducing disease activity in RRMS.Methods: This multicenter, retrospective observational study was carried out with prospectively collected data from 15 centers. All consecutive RRMS patients treated with teriflunomide or fingolimod were included. Data for relapses, Expanded Disability Status Scale (EDSS) scores and brain magnetic resonance imaging (MRI) scans were collected. Patients were matched using propensity scores.Annualized relapse rates (ARR), disability accumulation, percentage of patients with active MRI and treatment discontinuation over a median 2.5-year follow-up period were compared.Results: Propensity score matching retained 349 out of 1388 patients in the fingolimod group and 349 out 678 in the teriflunomide group for final analyses. Mean ARR decreased markedly from baseline after 1 and 2 years of treatment in both the fingolimod (0.58-0.17 after 1 year and 0.11 after 2 years, p < 0.001) and teriflunomide (0.56-0.29 after 1 year and 0.31 after 2 years, p < 0.001) groups. Mean ARR was lower in fingolimod-treated patients than in those treated with teriflunomide at years 1 (p = 0.02) and 2 (p = 0.004). Compared to teriflunomide, the fingolimod group exhibited a higher percentage of relapse-free patients and a lower percentage of MRI-active patients after 2.5-year follow-up. Disability worsening was similar between the two groups. Patients were less likely to discontinue fingolimod than teriflunomide (p < 0.001).Conclusion: Fingolimod was associated with a better relapse control and lower discontinuation rate than teriflunomide. The two oral therapies exhibited similar effects on disability outcomes.Item Efficacy, safety and tolerability of natalizumab in Turkish multiple sclerosis patients with high disease activity: a prospective, multicentre study(Elsevier, 2009-10) Eraksoy, Mefkure; Akman, Gülşen Demir; Agan, Kadriye; Günal, Dilek İnce; Us, Önder; Şaip, Sebahattin; Demirci, Nuri Onat; Tütüncü, Melih; Boz, Cavit; Terzi, Matthew C.; Onar, Musa; Aydin, H. Güngör; Türk, U. Boru; Soysal, Aysun; Petek, Belgin Balcı; Türkoğlu, Recai; Dib, Hussein; Siva, Aksel; Turan, Ömer Faruk; Taşkapılıoğlu, Özlem; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.Item Real world efficacy and safety of teriflunomide in patients with relapsing-remitting multiple sclerosis(Sage Puplications, 2017-10) Boz, Cavit; Özakbaş, Serkan; Terzi, Murat; Türkoğlu, Recai; Akman, Gülşen; Efendi, Hüsnü; Akçalı, Aylin; Tuncer, Alaettin; Yüceyar, Nur; Soysal, Aysun; Köseoğlu, M.; Balcı, Belgin Petek; Sevim, Serhan; Altıntaş, Ayşe; Çilingir, Vedat; Demirkıran, Meltem; Kızılay, Ferah; Altunrende, Burcu; Turan, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.Item Real-life data from efficacy of fingolimod treatment in multiple sclerosis patients in Turkey(Sage Publications, 2016-09) Terzi, Murat; Kurtuncu, Murat; Eraksoy, Mefkure; Rana, Karabudak; Tuncer, Alaettin; Burcu, Altunrende; Aylin, Akçalı; Boz, Cavit; Sevim, Serhan; Nur, Yuspian; Tamam, Yusuf; Bitnel, M.; Soysal, Aysun; Özerden, Mesude; Terzi, Yüksel; Turan, Ömer Faruk; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JDI-6091-2023Publication The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice(Wiley, 2021-01-15) Vural, Atay; Şimşir, Gülşah; Tekgül, Şeyma; Koçoğlu, Cemile; Akçimen, Fulya; Kartal, Ece; Şen, Nesli E.; Lahut, Suna; Ömür, Özgür; Şaner, Nazan; Gül, Tuğçe; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Çetinkaya, Caroline Pirkevi; Eken, Aslı Gündoğdu; Şahbaz, Irmak; Koç, Müge Kovancılar; Çakmak, Özgür Öztop; Hanağası, Haşmet; Bilgiç, Başar; Eraksoy, Mefkure; Gündüz, Ayşegül; Apaydın, Hülya; Kızıltan, Güneş; Özekmekci, Sibel; Siva, Aksel; Altıntaş, Ayşe; Güleç, Zeynep E. Kaya; Parman, Yeşim; Oflazer, Piraye; Deymeer, Feza; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Tüfekcioğlu, Zeynep; Tektürk, Pınar; Çorbalı, M. Osman; Tireli, Hülya; Akdal, Gülden; Yis, Uluç; Hız, Semra; Şengün, İhsan; Bora, Elçin; Serdaroğlu, Gül; Özbek, Sevda Erer; Ağan, Kadriye; Günal, Dilek İnce; Us, Önder; Kurt, Semiha G.; Aksoy, Dürdane; Tokcaer, Ayşe Bora; Elmas, Muhsin; Gültekin, Murat; Kumandaş, Sefer; Acer, Hamit; Özçora, Gül D. Kaya; Yayla, Vildan; Soysal, Aysun; Genç, Gencer; Gülluoğlu, Halil; Kotan, Dilcan; Ayas, Zeynep Özözen; Şahin, Hüseyin A.; Tan, Ersin; Topcu, Meral; Topcuoğlu, Esen Saka; Akbostancı, Cenk; Koç, Filiz; Ertan, Sibel; Elibol, Bülent; Başak, A. Nazlı; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JGR-7854-2023Background 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.