Yazar "Soysal, Aysun" seçeneğine göre listele
Listeleniyor 1 - 7 / 7
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe A database for screening and registering late onset Pompe disease in Turkey(Pergamon-Elsevier Science Ltd, 2018) Çelik Gökyiğit, Münevver; Ekmekçi, Hakan; Durmuş, Hacer; Karlı, Necdet; Köseoğlu, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; Kahraman Koytak, Pınar; Karasoy, Hatice; Yaman, Aylin; Şengün, İhsan Şükrü; Sayın, Refah; Tiftikcioğlu, Bedile Irem; Soysal, Aysun; Tutkavul, Kemal; Oytun Bayrak, Ayşe; Kısabay, Ayşın; Elçi, Mehmet Ali; Yayla, Vildan; Yılmaz, İbrahim Arda; Özdamar, Sevim Erdem; Erdoğan, Çağdaş; Taşdemir, Nebahat; Oflazer, Zehra PirayeThe 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.Öğe Early detection of mononeuritis multiplex & diagnosis of systemic diseases thru electrophysiological work out with polyneuropathy as preceeding symptom(Elsevier Science, 2015) Mutluay, Belgin; Köksal, Ayhan; Karagöz, Nursel; Aysal, F.; Baybaş, Sevim; Soysal, AysunBackground: Mononeuritis multiplex (MNM) is a nervous system disorder that involves damage to at least two separate peripheral nerves. It is a syndrome not a disease, caused by certain systemic diseases like diabetes, vasculitis, rheumatic, infectious or paraneoplastic diseases. Objective: To evaluate the role of electrophysiological work out on patients presenting with polyneuropathy as preceding symptom that leads to early diagnosis of MNM and an underlying systemic disease. Patients: We retrospectively analyzed 12 MNM patients (4 females and 8 males from 19 to 62 years of age) presenting with patchily distributed weakness in all and pain at onset in nine, at our neuromuscular diseases clinic between 1993-2013. We have obtained Institutional Review Board (IRB) approval, as necessary. Methods: Neurophysiological evaluation, routine blood chemistry, vasculitis markers, serum and protein electrophoresis, HIV, Hepatitis markers were examined in all patients. Nerve and muscle biopsies were performed in 5 patients. Results: Neurophysiological evaluation revealed an asymmetrically distributed motor and sensory nerve involvement accompanied by neurogenic findings in all. Nerve and muscle biopsies were performed in five. The differential diagnostic work up of this patient group resulted in diagnosis of 2 Churg- Strauss syndrome, 2 rheumatoid arthritis, 2 non-necrotizing vasculitis, 2 PAN and 1 multiple myeloma, 1 CNS vasculitis related to p-ANCA, 1 Hepatitis C and 1 HIV. Conclusion: Detailed investigation of patients with polyneuropathy as preceding symptom thru electrophysiological work out can be a valuable tool that leads to early detection and treatment of MNM and the underlying systemic disease.Öğe Effectiveness of intermittent theta burst stimulation to enhance upper extremity recovery after stroke: a randomized controlled study(2024) Kolbaşı, Esma Nur; Ersöz Hüseyinsinoğlu, Burcu; Özdemir, Zeynep; Bayraktaroğlu, Zübeyir; Soysal, AysunObjective: To first investigate the effectiveness of modified Constraint-Induced Movement Therapy (mCIMT) in low-functioning patients with stroke (PwS). Second, we aimed to investigate the efficiency of intermittent theta-burst stimulation (iTBS), applied on intermittent days, in addition to the mCIMT in PwS. Design: Randomized, sham-controlled, single-blinded study. Setting: Outpatient clinic. Participants: Fifteen PwS (age 66.3 ± 9.2 years (mean ± SD); 53% female) who were in the first 1-12 months after the incident were included in the study. Interventions: PwS were divided into 3 groups: 1) mCIMT alone, 2) mCIMT + sham iTBS, and 3) mCIMT + iTBS. Each group received fifteen sessions of mCIMT (1 hour/session, 3 sessions/week). iTBS was applied with 600-pulses on impaired M1 prior to mCIMT. Main outcome measures: Upper extremity (UE) impairment was assessed with the Fugl-Meyer Test (FMT-UE), while the motor function was evaluated with the Wolf-Motor Function Test (WMFT). Motor Activity Log-28 (MAL-28) was used to evaluate the amount of use (AUS) and how well (HWS) the impaired UE movements. Results: With-in-group analysis revealed that all groups had statistically significant improvements based on the FMT-UE and MAL-28 (p<0.05). However, the performance time and arm strength variables of WMFT were only increased in the mCIMT + iTBS group (p<0.05). The only between-group difference was observed in the intracortical facilitation in favor of the mCIMT + iTBS group (p<0.05). The effect size of iTBS was f=0.18. Conclusion: Our findings suggest that mCIMT with and without the application of iTBS has increased the UE motor function in low-functioning PwS. iTBS applied on intermittent days may have additional benefits as an adjunct therapy for facilitating cortical excitability, increasing the speed and strength of the impaired UE as well as decreasing disability.Öğe Enhancement of motor skill acquisition by intermittent theta burst stimulation: A pilot study(Springer, 2023) Kolbaşı, Esma Nur; Ersöz Hüseyinsinoğlu, Burcu; Özdemir, Zeynep; Bayraktaroğlu, Zübeyir; Soysal, AysunObjective This study aims to analyze the effects of intermittent theta burst stimulation (iTBS) on motor skill acquisition of healthy subjects when applied on alternate days to ensure high adherence to treatment. Materials and methods Ten healthy participants (40-54 years) were included in the study. The control group (CG) (60% female) only received motor training (i.e., finger tapping task-FTTa), whereas the experimental group (EG) (100% female) received iTBS in addition to the motor training (every other day for 5 sessions). Cortical excitability measurements were taken with TMS. The correct sequences of the finger tapping test (FTTe) were recorded for behavioral analysis. Results While SICI was increased by 0.03 in EG, ICF was increased by 0.18 between pre-and post-treatment. On the other hand, CG had a lower ICF difference (MD: 0.05) and a higher SICI difference (MD: 0.21). There was no difference between EG and CG in FTTe at the end of the intervention (p > 0.05 for all variables), except for the increased number of correct sequences within the EG (p = 0.018). There was a significant difference in FTTa between EG and CG, in favor of EG (p = 0.042). The effect size was 0.62. Conclusion Although no difference was found in terms of cortical excitability and FTTe between the EG and CG at the end of the alternate-day treatment, it seemed like iTBS increased cortical facilitation further than CG. Furthermore, the number of correct sequences in FTTe and FTTa was significantly increased in EG, showing that intermittent iTBS might improve motor learning and performance.Öğe Priming constraint-induced movement therapy with intermittent theta burst stimulation to enhance upper extremity recovery in patients with stroke: protocol for a randomized controlled study(2024) Kolbaşı, Esma Nur; Ersöz Hüseyinsinoğlu, Burcu; Özdemir, Zeynep; Bayraktaroğlu, Zübeyir; Soysal, AysunBackground: The treatments based on motor control and motor learning principles have gained popularity in the last 20 years, as well as non-invasive brain stimulations that enhance neuroplastic changes after stroke. However, the effect of intermittent theta burst stimulation (iTBS) in addition to evidence-based, intensive neurorehabilitation approaches such as modified constraint-induced movement therapy (mCIMT) is yet to be investigated. Aim: We aim to establish a protocol for a randomized controlled study investigating the efficiency of mCIMT primed with iTBS after stroke. Methods: In this randomized controlled, single-blind study, patients with stroke (N = 17) will be divided into 3 groups: (a) mCIMT + real iTBS, (b) mCIMT + sham iTBS, and (c) mCIMT alone. 600-pulse iTBS will be delivered to the primary motor cortex on the ipsilesional hemisphere, and then, patients will receive mCIMT for 1 h/session, 3 sessions/week for 5 weeks. Upper extremity recovery will be assessed with Fugl-Meyer Test-Upper Extremity and Wolf Motor Function Test. Electrophysiological assessments, such as Motor-Evoked Potentials, Resting Motor Threshold, Short-Intracortical Inhibition, and Intracortical Facilitation, will also be included. Conclusions: In this study, a protocol of an ongoing intervention study investigating the effectiveness of iTBS on ipsilesional M1 prior to the mCIMT in patients with stroke is proposed. This will be the first study to research priming mCIMT with iTBS and it may have the potential to reveal the true effect of the iTBS when it is added to the high-quality neurorehabilitation approaches. Trial registration: Trial registration number: NCT05308667.Öğe Retrospective analysis of effectiveness of fingolimod in real life setting in Turkey (REFINE)(Turkiye Klinikleri, 2023) Tuncer, Aslı; Kürtüncü, Murat; Terzi, Murat; Uygunoğlu, Uğur; Göncüoğlu, Cansu; Yüceyar, Ayşe Nur; Ekmekçi, Özgül; Türkoğlu, Recai; Soysal, Aysun; Köseoğlu, Mesrure; Boz, Cavit; Beckmann, YeşimBackground/aim: During multiple sclerosis (MS) treatment different modes of action such as lateral (interferon beta to glatiramer acetate or glatiramer acetate to interferon beta) or vertical (interferon beta/glatiramer acetate to fingolimod) drug switch can be performed. This study aims to investigate the clinical effectiveness of switching from the first-line injectable disease modifying treatments (iDMTs) to fingolimod (FNG) compared to switching between first-line iDMTs. Materials and methods: This is a multicenter, observational and retrospective study of patients with relapsing-remitting MS who had lateral and vertical switch. The observation period included three key assessment time points (before the switch, at switch, and after the switch). Data were collected from the MS patients’ database by neurologists between January 2018 and June 2019. The longest follow-up period of the patients was determined as 24 months after the switch. Results: In 462 MS patients that were included in the study, both treatments significantly decreased the number of relapses during the postswitch 12 months versus preswitch one year while patients in the FNG group experienced significantly fewer relapses compared to iDMT cohort in the postswitch 12 months period. FNG cohort experienced fewer relapses than in the iDMT cohort within the postswitch 2 year. The mean time to first relapse after the switch was significantly longer in the FNG group. Conclusion: The present study revealed superior effectiveness of vertical switch over lateral switch regarding the improvement in relapse outcomes. Patients in the FNG cohort experienced sustainably fewer relapses during the follow-up period after the switch compared the iDMT cohort. Importantly, switching to FNG was more effective in delaying time to first relapse when compared with iDMTs.Öğe Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database(Wiley, 2020) Tunca, Ceren; Şeker, Tuncay; Akçimen, Fulya; Coşkun, Cemre; Bayraktar, Elif; Palvadeau, Robin; Zor, Seyit; Koçoğlu, Cemile; Kartal, Ece; Şen, Nesli Ece; Hamzeiy, Hamid; Özoğuz Erimiş, Aslıhan; Norman, Utku; Karakahya, Oğuzhan; Olgun, Gülden; Akgün, Tahsin; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Başar Gürsoy, Esra; Babacan Yıldız, Gülşen; İşak, Barış; Uluç, Kayıhan; Hanağası, Haşmet; Bilgiç, Başar; Turgut, Nilda; Aysal, Fikret; Ertaş, Mustafa; Boz, Cavit; Kotan, Dilcan; İdrisoğlu, Halil; Soysal, Aysun; Uzun Adatepe, Nurten; Akalın, Mehmet Ali; Koç, Filiz; Tan, Ersin; Oflazer, Piraye; Deymeer, Feza; Taştan, Öznur; Çiçek, Ercüment; Kavak, Ersen; Parman, Yeşim; Başak, NazlıThe last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).
