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2. Self-Improving Safety Performance of Reinforcement Learning Based Driving with Black-Box Verification Algorithms

Author

Dagdanov, R, Durmus, H, Ure, NK, Dagdanov, R, Durmus, H, and Ure, NK

Abstract

In this work we propose a self improving artificial intelligence system to enhance the safety performance of reinforcement learning RL based autonomous driving AD agents using black box verification methods RL algorithms have become popular in AD applications in recent years However the performance of existing RL algorithms heavily depends on the diversity of training scenarios A lack of safety critical scenarios during the training phase could result in poor generalization performance in real world driving applications We propose a novel framework in which the weaknesses of the training set are explored through black box verification methods After discovering AD failure scenarios the RL agent s training is re initiated via transfer learning to improve the performance of previously unsafe scenarios Simulation results demonstrate that our approach efficiently discovers safety failures of action decisions in RL based adaptive cruise control ACC applications and significantly reduces the number of vehicle collisions through iterative applications of our method The source code is publicly available at https github com data and decision lab self improving RL

Published
2023

3. Titin antibodies in “seronegative” myasthenia gravis — A new role for an old antigen

Author

Stergiou, C., Lazaridis, K., Zouvelou, V., Tzartos, J., Mantegazza, R., Antozzi, C., Andreetta, F., Evoli, A., Deymeer, F., Saruhan-Direskeneli, G., Durmus, H., Brenner, T., Vaknin, A., Berrih-Aknin, S., Behin, A., Sharshar, T., De Baets, M., Losen, M., Martinez-Martinez, P., Kleopa, K.A., Zamba-Papanicolaou, E., Kyriakides, T., Kostera-Pruszczyk, A., Szczudlik, P., Szyluk, B., Lavrnic, D., Basta, I., Peric, S., Tallaksen, C., Maniaol, A., Gilhus, N.E., Casasnovas Pons, C., Pitha, J., Jakubíkova, M., Hanisch, F., Bogomolovas, J., Labeit, D., Labeit, S., and Tzartos, S.J.

Published
2016
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4. MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study

Author

Tsonis, A.I., Zisimopoulou, P., Lazaridis, K., Tzartos, J., Matsigkou, E., Zouvelou, V., Mantegazza, R., Antozzi, C., Andreetta, F., Evoli, A., Deymeer, F., Saruhan-Direskeneli, G., Durmus, H., Brenner, T., Vaknin, A., Berrih-Aknin, S., Behin, A., Sharshar, T., De Baets, M., Losen, M., Martinez-Martinez, P., Kleopa, K.A., Zamba-Papanicolaou, E., Kyriakides, T., Kostera-Pruszczyk, A., Szczudlik, P., Szyluk, B., Lavrnic, D., Basta, I., Peric, S., Tallaksen, C., Maniaol, A., Casasnovas Pons, C., Pitha, J., Jakubíkova, M., Hanisch, F., and Tzartos, S.J.

Published
2015
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7. 533P Long-term follow-up deoxynucleoside therapy for late onset thymidine kinase 2 deficiency patients.

Author

Durmus, H., Gedikbaşı, A., Ceylaner, S., Kıyan, E., and Gulsen Parman, Y.

Subjects
*INFORMED consent (Medical law), *WEIGHT gain, *VITAL capacity (Respiration), *PATIENT safety, *AGE of onset
Abstract

To describe the baseline characteristics, treatment and safety outcomes of the patients with late onset TK2 deficiency treated with deoxynucleoside monophosphates and deoxynucleoside in our clinic. Recessive mutations in the TK2 which encodes for mitochondrial thymidine kinase, cause a rare mitochondrial depletion/multiple deletions syndrome. Late-onset TK2 deficiency is very rare and usually manifests as myopathy. There was only one observational multicenter study describing the results of deoxynucleoside therapy previously. Deoxynucleoside monophosphate and deoxynucleoside therapies have not been approved yet for the treatment of thymidine kinase 2 deficiency. We administered deoxynucleoside monophosphates and deoxynucleoside to three late onset TK2-deficient patients under a compassionate use approved by FDA and Ministry of Health of Turkey. We obtained signed informed consent for the treatment from all patients. All patients underwent motor assessments using 6-minute walk test (6MWT) and Hammersmith Functional Motor Scale (HFMS). Routine laboratory test forced vital capacity (sitting and upright), FSS and BMI were also recorded. The mean age of onset was 17 years (ranges 14-24 years). The distance walked improved in all, mean baseline 6MWT distances was 153m, mean 6MWT distance was 273m after 3 months, 350m after 6 months and 398m after 12 months, 417m after 18 months of treatment. Mean FVC 1 year prior to the treatment was 41%, 37% at baseline, 44% after 3 months, 50% after 6 months and 55% 12 months and 56.6 18 months of treatment. Mean HFMS was 34.7 at baseline, 41.7 at 3th month, 47.7 at 6th month and 54 at 12th and 55.3 at 18th month of treatment. Mean FSS score was reduced by 10 points (from a baseline of 57.3) after 6 months of treatment and was unchanged at 18th month. All patients gained weight, mean BMI was 15.5 at the baseline and 21 after 12 months of treatment. No treatment related serious adverse event was observed. Our data indicates favorable and sustained clinical efficacy of deoxynucleoside monophosphate and deoxynucleoside therapies for late onset TK2 deficiency. [ABSTRACT FROM AUTHOR]

Published
2024
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8. 510P Eculizumab versus rituximab for refractory anti-acetylcholine receptor antibody-positive generalized myasthenia gravis: a single-center experience.

Author

Durmus, H., Cakar, A., and Parman, Y.

Subjects
*INFORMED consent (Medical law), *PATIENT safety, *AGE of onset, *MYASTHENIA gravis, *DISEASE duration, *ACTIVITIES of daily living
Abstract

Rituximab (RTX) and eculizumab (ECU) are treatment options for refractory myasthenia gravis (MG), but comparative clinical data derived from real-world experience are limited. Here we describe the baseline characteristics, treatment and safety outcomes of patients with anti-acetylcholine receptor antibody-positive (AChR+) generalized myasthenia gravis (gMG) treated with ECU and/or RTX in our clinic. Patients with refractory AChR+ gMG who received more than one year of ECU or/and RTX treatment at the Department of Neurology, Istanbul Faculty of Medicine were included in this observational study. After obtaining patient consent, data were collected retrospectively from medical records. Twelve patients treated with ECU and 25 patients treated with RTX were included in the analysis. Groups were comparable with regard to demographic and clinical characteristics, including age at onset of MG, disease duration and history of thymoma. ECU was associated with significantly better outcomes compared with RTX, as measured by decreases in the mean MG activities of daily living score at 1 (p = 0024), 3 (p < 0.001), 6 (p < 0.001), and 12 (p < 0.001) months of treatment; steroid-sparing effect after 1 year of treatment (decrease in mean [standard deviation] daily prednisolone dose of -21.8 [13.5] mg vs -6.6 [9.4] mg with RTX; p < 0.001); need for rescue treatment and myasthenic crisis episodes during treatment (p < 0.001). No new safety signals were observed with either treatment. Our data provide real-world evidence supporting the use of ECU over RTX to treat refractory AChR+ gMG. [ABSTRACT FROM AUTHOR]

Published
2024
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9. OTHER NMDs

Author

Keogh, M., primary, Topf, A., additional, Marini-Bettolo, C., additional, Hudson, J., additional, Colomer, J., additional, Nascimento, A., additional, Oliver, M., additional, Alvarez, R., additional, Durmus, H., additional, Nafissi, S., additional, Bastian, A., additional, Vissing, J., additional, Witting, N., additional, Diaz-Manera, J., additional, and Straub, V., additional

Published
2021
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10. A database for screening and registering late onset Pompe disease in Turkey

Author

Gokyigit, M.C., Ekmekci, H., Durmus, H., Karlı, N., Koseoglu, E., Aysal, F., Kotan, D., Ali, A., Koytak, P.K., Karasoy, H., Yaman, A., Sengun, İ.S., Sayin, R., Tiftikcioglu, B.I., Soysal, A., Tutkavul, K., Bayrak, A.O., Kısabay, A., Elci, M.A., Yayla, V., Yılmaz, İ.A., Ozdamar, S.E., Erdoğan, Çağdaş, Tasdemir, N., Serdaroglu Oflazer, P., Deymeer, F., Parman, Y., Kendirci, M., Sayan, S., Celebi, L.G., Uluç, K., Tanrıdağ, T., Yuceyar, N., Ekmekci, O., Colakoglu, B.D., Ozturk, S., Tireli, H., Selcuki, D., Neyal, A.M., Kayran, Y., Aluclu, M.U., Koyuncuoglu, H.R., Tokucoglu, F., Secil, Y., Guney, F., Gozke, E., Balaban, H., Akalın, M.A., Koc, A.F., Mulayim, S., Turgut, N., Turkish Study Group for Late Onset Pompe Disease, Gokyigit, Munevver Celik Sisli Hamidiye Etfal Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Ekmekci, Hakan Selcuk Univ Hosp, Dept Neurol, Konya, Turkey, Durmus, Hacer, Oflazer, Piraye Serdaroglu Istanbul Univ, Istanbul Fac Med, Dept Neurol Istanbul, Istanbul, Turkey, Karll, Necdet Uludag Univ Hosp, Dept Neurol, Bursa, Turkey, Koseoglu, Emel Erciyes Univ Hosp, Dept Neurol, Kayseri, Turkey, Aysal, Fikret Medipol Univ Hosp, Istanbul, Turkey, Kotan, Dilcan Sakarya Univ Hosp, Dept Neurol, Sakarya, Turkey, Ali, Asuman Sevket Yilnzaz Res Hosp, Dept Neurol, Bursa, Turkey, Koytak, Pinar Kahraman Marmara Univ Hosp, Dept Neurol, Istanbul, Turkey, Karasoy, Hatice Ege Univ Hosp, Dept Neurol, Izmir, Turkey, Yaman, Aylin Antalya Ed Res Hosp, Dept Neurol, Antalya, Turkey, Sengun, Ihsan Sukru Dokuz Eylul Univ Hosp, Dept Neurol, Izmir, Turkey, Sayin, Refah Yuzuncu Yil Univ Hosp, Dept Neurol, Van, Turkey, Tiftikcioglu, Bedile Irem Tepecik Ed Res Hosp, Izmir, Turkey, Soysal, Aysun Balarkoy Psychiat & Neurol Hosp, Dept Neurol, Istanbul, Turkey, Tutkavul, Kemal Haydarpa Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Bayrak, Ayse Oytun Ondokuz Maps Univ Hosp, Dept Neurol, Samsun, Turkey, Kisabay, Aysin Celal Bayar Univ Hosp, Dept Neurol Manisa, Manisa, Turkey, Elci, Mehmet Ali Gaziantep Univ Hosp, Dept Neurol Gaziantep, Gaziantep, Turkey, Yayla, Vildan Balarkoy Sadi Konuk Ed Res Hosp, Dept Neurol, Istanbul, Turkey, Yilmaz, Ibrahim Arda Mersin Univ Hosp, Dept Neurol, Mersin, Turkey, Ozdamar, Sevim Erdem Hacettepe Univ Hosp, Dept Neurol, Ankara, Turkey, Erdogan, Cagdas Pamukkale Univ Hosp, Dept Neurol, Denizli, Turkey, Tasdemir, Nebahat Dicle Univ Hosp, Dept Neurol, Diyarbakir, Turkey, Gokyigit, Munevver Celik Beykent Univ, Istanbul, Turkey, Gokyigit, Munevver Celik -- 0000-0002-3395-3460, Uluc, Kayihan -- 0000-0001-6132-2300, Piraye -- 0000-0001-8202-5313, Ekmekci, Hakan -- 0000-0002-5605-2980, Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Selçuk University Hosp., Konya, Turkey, Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey, Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey, Medipol University Hosp., Istanbul, Turkey, Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey, Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey, Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., İzmir, Turkey, Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey, Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey, Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey, Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey, Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey, Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Mersin University Hosp., Mersin, Turkey, Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey, Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey, Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey, Dept. of Neurology, Ege University Hosp., Izmir, Turkey, Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey, Dept. of Neurology, Selcuk University Hospital, Konya, Turkey, Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey, Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey, Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey, Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey, Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey, Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey, Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey, Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey, Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey, Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey, Dept. of Neurology, Cukurova University Hosp., Adana, Turkey, Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey, Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey, Beykent University, Turkey, Çukurova Üniversitesi, Ondokuz Mayıs Üniversitesi, Gokyigit, M.C., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey, Beykent University, Turkey -- Ekmekci, H., Dept. of Neurology, Selçuk University Hosp., Konya, Turkey -- Durmus, H., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Karlı, N., Dept. of Neurology, Uludağ University Hosp., Bursa, Turkey -- Koseoglu, E., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Aysal, F., Medipol University Hosp., Istanbul, Turkey -- Kotan, D., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Ali, A., Dept. of Neurology, Sevket Yılmaz Ed. Res. Hosp., Bursa, Turkey -- Koytak, P.K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Karasoy, H., Dept. of Neurology, Ege University Hosp., İzmir, Turkey -- Yaman, A., Dept. of Neurology, Antalya Ed. Res. Hosp., Antalya, Turkey -- Sengun, İ.S., Dept. of Neurology, Dokuz Eylül University Hosp., İzmir, Turkey -- Sayin, R., Dept. of Neurology, Yüzüncü Yil University Hospital, Van, Turkey -- Tiftikcioglu, B.I., Tepecik Ed. Res. Hosp., Izmir, Turkey -- Soysal, A., Dept. of Neurology, Bakırkoy Psychiatric and Neurological Hosp., Istanbul, Turkey -- Tutkavul, K., Dept. of Neurology, Haydarpaşa Ed. Res. Hosp., İstanbul, Turkey -- Bayrak, A.O., Dept. of Neurology, Ondokuz Mayıs University Hosp., Samsun, Turkey -- Kısabay, A., Dept. of Neurology Manisa, Celal Bayar University Hosp., Manisa, Turkey -- Elci, M.A., Dept. of Neurology Gaziantep, Gaziantep University Hosp., Gaziantep, Turkey -- Yayla, V., Dept. of Neurology, Bakırkoy Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Yılmaz, İ.A., Dept. of Neurology, Mersin University Hosp., Mersin, Turkey -- Ozdamar, S.E., Dept. of Neurology, Hacettepe University Hosp., Ankara, Turkey -- Erdogan, C., Dept. of Neurology, Pamukkale University Hosp., Denizli, Turkey -- Tasdemir, N., Dept. of Neurology, Dicle University Hosp., Diyarbakır, Turkey -- Serdaroglu Oflazer, P., Dept. of Neurology Istanbul, İstanbul Medical Faculty, University of Istanbul, Istanbul, Turkey -- Deymeer, F., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Parman, Y., Istanbul Medical Faculty, Dept. of Neurology, University of Istanbul, Istanbul, Turkey -- Kendirci, M., Dept. of Neurology, Erciyes University Hosp., Kayseri, Turkey -- Sayan, S., Dept. of Neurology, Sakarya University Hosp., Sakarya, Turkey -- Celebi, L.G., Dept. of Neurology, Sisli Hamidiye Etfal Ed. Res. Hosp., Istanbul, Turkey -- Uluç, K., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Tanrıdağ, T., Dept. of Neurology, Marmara University Hospital, Istanbul, Turkey -- Yuceyar, N., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Ekmekci, O., Dept. of Neurology, Ege University Hosp., Izmir, Turkey -- Colakoglu, B.D., Dept. of Neurology, Dokuz Eylul University Hosp., Izmir, Turkey -- Ozturk, S., Dept. of Neurology, Selcuk University Hospital, Konya, Turkey -- Tireli, H., Dept. of Neurology, Haydarpasa Ed. Res. Hosp., Istanbul, Turkey -- Selcuki, D., Dept. of Neurology, Celal Bayar University Hosp., Manisa, Turkey -- Neyal, A.M., Dept. of Neurology, Gaziantep University Hosp., Gaziantep, Turkey -- Kayran, Y., Dept. of Neurology, Bakirkoy, Sadi Konuk Ed. Res. Hosp., Istanbul, Turkey -- Aluclu, M.U., Dept. of Neurology, Dicle University Hosp., Diyarbakir, Turkey -- Koyuncuoglu, H.R., Dept. of Neurology, Suleyman Demirel University Hosp., Isparta, Turkey -- Tokucoglu, F., Dept. of Neurology, Tepecik Ed. Res. Hosp., Izmir, Turkey -- Secil, Y., Dept of Neurology, Atatürk Ed. Res. Hosp., Izmir, Turkey -- Guney, F., Meram Medical Faculty, Dept. of Neurology, Necmettin Erbakan University, Konya, Turkey -- Gozke, E., Dept. of Neurology, Fatih Sultan Mehmet Ed. Res. Hosp., Istanbul, Turkey -- Balaban, H., Dept. of Neurology, Cumhuriyet University Hosp., Sivas, Turkey -- Akalın, M.A., Cerrahpasa Medical Faculty, Dept. of Neurology, Istanbul University, Istanbul, Turkey -- Koc, A.F., Dept. of Neurology, Cukurova University Hosp., Adana, Turkey -- Mulayim, S., Dept. of Neurology, Kocaeli University Hosp., Izmit, Turkey -- Turgut, N., Dept. of Neurology, Namık Kemal University Hosp., Tekirdag, Turkey -- Turkish Study Group for Late Onset Pompe Disease, Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, Oflazer, PS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, and Kotan Dündar, Dilcan

Subjects
0301 basic medicine, glycogen storage disease type 2, Pediatrics, enzyme assay, Databases, Factual, Turkey, Turkey (republic), 0302 clinical medicine, data base, Glycogen storage disease type II, Prevalence, Mass Screening, creatine kinase blood level, Registries, Age of Onset, Genetics (clinical), medicine.diagnostic_test, Glycogen Storage Disease Type II, adult, genetic screening, Creatine Kinase/blood, Glycogen Storage Disease Type II/blood/diagnosis/*epidemiology, Humans, Turkey/epidemiology, Dried blood spot, aged, female, Neurology, priority journal, LOPD, Acid alpha-glucosidase, histopathology, disease registry, medicine.symptom, myopathy, mutational analysis, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Registry, electrodiagnosis, Late onset, Article, enzyme blood level, 03 medical and health sciences, male, respiratory distress, medicine, controlled study, human, Myopathy, Acid alpha glucosidase, Mass screening, Genetic testing, muscle weakness, business.industry, creatine kinase, screening, glucan 1,4 alpha glucosidase, medicine.disease, major clinical study, human tissue, late onset disorder, Limb girdle muscle weakness, 030104 developmental biology, multicenter study, Pediatrics, Perinatology and Child Health, Neurosciences & Neurology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
Abstract

WOS: 000430763800010 PubMed ID: 29395671 The 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. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

14. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Author

Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforet, P., San-Millan, B., Vieitez, I., Siciliano, G., Kuhnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinos, T., Marti, R., Quinlivan, R., Vissing, J., Baruch, N., Ortega, F. J., Martin, M. A., Navarro, C., Millan, B. S., Castelli, M., Zucchi, F., Bruno, C., Scalco, R., Hadjgeorgiou, G., Zintzaras, E., Vorgerd, M., Zulow, E., Haller, R., Oflazer, P., and Pouget, J.

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Weakness, McArdle disease, Myopathy, Glycogen storage disease, International registry, Metabolic diseases, Rare diseases, Population, Terapéutica, Physical examination, Glucógeno, 03 medical and health sciences, Tratamiento médico, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Ptosis, medicine, Humans, Pharmacology (medical), Registries, education, Genetics (clinical), Metabolismo, education.field_of_study, medicine.diagnostic_test, business.industry, Enfermedades raras, Muscles, Research, Myoglobinuria, Muscle weakness, General Medicine, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Europe, 030104 developmental biology, Glycogen Storage Disease Type V, medicine.symptom, business, Body mass index, Enfermedad, 030217 neurology & neurosurgery
Abstract

Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

Published
2020
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17. Turkey

Author

Gokyigit, MC, Ekmekci, H, Durmus, H, Karll, N, Koseoglu, E, Aysal, F, Kotan, D, Ali, A, Koytak, PK, Karasoy, H, Yaman, A, Sengun, IS, Sayin, R, Tiftikcioglu, BI, Soysal, A, Tutkavul, K, Bayrak, AO, Kisabay, A, Elci, MA, Yayla, V, Yilmaz, IA, Ozdamar, SE, Erdogan, C, Tasdemir, N, and Oflazer, PS

Subjects
LOPD, Registry, Limb girdle muscle weakness, Acid alpha glucosidase
Abstract

The 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. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

20. Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling

Author

Toksoy, G, primary, Durmus, H, additional, Aghayev, A, additional, Bagirova, G, additional, Sevinc Rustemoglu, B, additional, Basaran, S, additional, Avci, S, additional, Karaman, B, additional, Parman, Y, additional, Altunoglu, U, additional, Yapici, Z, additional, Tekturk, P, additional, Deymeer, F, additional, Topaloglu, H, additional, Kayserili, H, additional, Oflazer-Serdaroglu, P, additional, and Uyguner, ZO, additional

Published
2019
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22. P.357 - The EUROMAC registry for rare glycogen storage diseases: preliminary report

Author

Scalco, Renata S., Quinlivan, Ros, Lucía Mulas, Alejandro, Santalla Hernández, Alfredo, Martinuzzi, Andrea, Toscano, Antonio, Musumeci, Olimpia, San Milan, B., Durmus, H., Voermans, Nicol C., Laforêt, Pascal, Kuhnle, K., Martín, M., Siciliano, G., Sacconi, S., Ortega, X., Pinós, Tomás, Martí, Ramón, and Vissing, John

Subjects
Glucógeno, Tratamiento médico, Enfermedades raras, Enfermedad
Abstract

Sin financiación 2.487 JCR (2017) Q2, 108/197 Clinical Neurology, 170/261 Neurosciences 1.337 SJR (2017) Q1, 81/378 Neurology (clinical), 30/308 Pediatrics, Perinatology and Child Health; Q2, 36/103 Genetics (clinical), 47/167 Neurology No data IDR 2017 UEM

Published
2017

23. The Effect Of Interleukin (Il)-21 And Cd4(+)Cd25(++) T Cells On Cytokine Production Of Cd4(+) Responder T Cells In Patients With Myasthenia Gravis

Author

Alahgholi-Hajibehzad, M., Durmus, H., Aysal, F., Guelsen-Parman, Y., Oflazer, P., Deymeer, F., and Saruhan-Direskeneli, G.

Abstract

Impairment of the suppressive function of regulatory T (T-reg) cells has been reported in myasthenia gravis (MG). In this study, cytokine-related mechanisms that may lead to the defect of T-reg were investigated in patients with anti-acetylcholine receptor antibody-positive MG (AChR+MG). Proliferation and cytokine production of responder T (T-resp) cells in response to polyclonal activation were measured in a suppression assay. The effect of interleukin (IL)-21 on suppression was evaluated in vitro in co-culture. IL-21 increased the proliferation of T-resp cells in T-resp/T-reg co-cultures. T-resp cells from patients with MG secreted significantly lower levels of IL-2. In patients with MG, IL-2 levels did not change with the addition of T-reg to cultures, whereas it decreased significantly in controls. In T-resp/T-reg co-cultures, IL-4, IL-6 and IL-10 production increased in the presence of T-reg in patients. Interferon (IFN)-gamma was decreased, whereas IL-17A was increased in both patient and control groups. IL-21 inhibited the secretion of IL-4 in MG and healthy controls (HC), and IL-17A in HC only. The results demonstrated that IL-21 enhances the proliferation of T-resp cells in the presence of T-reg. An effect of IL-21 mainly on T-resp cells through IL-2 is implicated.

Published
2017

25. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Author

Shen, X., primary, Selcen, D., additional, Brengman, J., additional, Shen, S., additional, Durmus, H., additional, Preethish-Kumar, V., additional, Yuceyar, A., additional, Vengalil, S., additional, Nalini, A., additional, Deymeer, F., additional, Sine, S., additional, and Engel, A., additional

Published
2018
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26. The EUROMAC registry for rare glycogen storage diseases: preliminary report

Author

Scalco, R., primary, Quinlivan, R., additional, Lucia, A., additional, Santalla, A., additional, Martinuzzi, A., additional, Toscano, A., additional, Musumeci, O., additional, Milan, B. San, additional, Durmus, H., additional, Voermans, N., additional, Laforêt, P., additional, Kuhnle, E., additional, Martin, M., additional, Siciliano, G., additional, Sacconi, S., additional, Ortega, X., additional, Pinos, T., additional, Marti, R., additional, and Vissing, J., additional

Published
2017
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27. Anoctamin 5 muscular dystrophy mimicking metabolic myopathy

Author

Durmus, H., primary, Scalco, R., additional, Gardiner, A., additional, Manole, A., additional, Schapira, A., additional, Morrow, J., additional, Houlden, H., additional, Holton, J., additional, Johnson, K., additional, Töpf, A., additional, Phillips, L., additional, Deymeer, F., additional, Parman, Y., additional, Straub, V., additional, Quinlivan, R., additional, and Oflazer-Serdaoglu, P., additional

Published
2017
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28. Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness

Author

Johnson, K., primary, Töpf, A., additional, Bertoli, M., additional, Phillips, L., additional, De Ridder, W., additional, Baets, J., additional, De Jonghe, P., additional, Deconinck, T., additional, Rakocevic Stojanovic, V., additional, Perić, S., additional, Durmus, H., additional, Jamal-Omidi, S., additional, Nafissi, S., additional, Łusakowska, A., additional, Mongini, T., additional, Lek, M., additional, Valkanas, E., additional, Mullen, T., additional, Xu, L., additional, MacArthur, D., additional, and Straub, V., additional

Published
2017
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29. Genotypic and phenotypic presentation of TTR-FAP in Turkey

Author

Durmus, H., Matur, Z., Atmaca, M. M., Mehveş Poda, Oflazer-Serdaroglu, P., Deymeer, F., Parman, Y., and MATUR, ZELİHA

Subjects
DURMUŞ TEKÇE H., Matur Z., Atmaca M. M. , PODA M., Oflazer-Serdaroglu P., Deymeer F., Parman Y., -Genotypic and phenotypic presentation of TTR-FAP in Turkey-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.261, DURMUŞ TEKÇE H., Matur Z., Atmaca M. M. , PODA M., Oflazer-Serdaroglu P., Deymeer F., Parman Y., -Genotypic and phenotypic presentation of TTR-FAP in Turkey-, Joint Congress of European Neurology, İstanbul, Türkiye, 31 Mayıs - 03 Haziran 2014, cilt.21, ss.137
Published
2014

32. MuSK autoantibodies in myasthenia gravis detected by cell based assay-A multinational study

Author

Evoli Stampanoni-B, Amelia, Tsonis, A, Zisimopoulou, P, Matsigkou, E, Lazaridis, K, Tzartos, J, Zouvelou, Vasiliki, Mantegazza, Renato, Antozzi, Carlo, Deymeer, Feza, Saruhan Direskeneli, G, Durmus, H, Brenner, T, Vaknin, A, Behin, A, Berrih Aknin, S, Sharshar, T, De Baets, Mark, Martinez Martinez, P, Losen, Mario, Zamba Papanicolaou, E, Kleopa, Ka, Kyriakides, T, Kostera Pruszczyk, A, Szczudlik, P, Szyluk, B, Lavrnic, D, Basta, I, Peric, S, Tallaksen, Chantal, Maniaol, A, Casasnovas Pons, C, Pitha, J, Jakubíkova, M, Hanisch, F, Tzartos, Sj, Andreetta, F, Evoli, Amelia (ORCID:0000-0003-0282-8787), Evoli Stampanoni-B, Amelia, Tsonis, A, Zisimopoulou, P, Matsigkou, E, Lazaridis, K, Tzartos, J, Zouvelou, Vasiliki, Mantegazza, Renato, Antozzi, Carlo, Deymeer, Feza, Saruhan Direskeneli, G, Durmus, H, Brenner, T, Vaknin, A, Behin, A, Berrih Aknin, S, Sharshar, T, De Baets, Mark, Martinez Martinez, P, Losen, Mario, Zamba Papanicolaou, E, Kleopa, Ka, Kyriakides, T, Kostera Pruszczyk, A, Szczudlik, P, Szyluk, B, Lavrnic, D, Basta, I, Peric, S, Tallaksen, Chantal, Maniaol, A, Casasnovas Pons, C, Pitha, J, Jakubíkova, M, Hanisch, F, Tzartos, Sj, Andreetta, F, and Evoli, Amelia (ORCID:0000-0003-0282-8787)

Abstract

Seronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of muscle specific kinase (MuSK) antibodies undetectable by radioimmunoassay. We tested 633 triple-seronegative MG patients' sera from 13 countries, detecting 13% as positive. MuSK antibodies were found, at significantly lower frequencies, in 1.9% of healthy controls and 5.1% of other neuroimmune disease patients, including multiple sclerosis and neuromyelitis optica. The clinical data of the newly diagnosed MuSK-MG patients are presented. 27% of ocular seronegative patients were MuSK antibody positive. Moreover, 23% had thymic hyperplasia suggesting that thymic abnormalities are more common than believed.

Published
2015

33. Coulomb Static Stress Changes Before And After The 23 October 2011 Van, Eastern Turkey, Earthquake (M-W=7.1): Implications For The Earthquake Hazard Mitigation

Author

Utkucu, M., Durmus, H., Yalcin, H., Budakoglu, E., and Isik, E.

Abstract

Coulomb stress changes before and after the 23 October 2011 Van, eastern Turkey, earthquake have been analysed using available data related to the background and the aftershock seismicity and the source faults. The coseismic stress changes of the background seismicity had slightly promoted stress over the rupture plane of the 2011 Van earthquake, while it yielded a stress shadow over the Gurpinar Fault which has been argued to have produced the 7 April 1646 Van earthquake. The stress shadow over the Gurpinar fault has become more pronounced following the occurrence of the 2011 Van earthquake, meaning that the repetition of the 1646 Van earthquake has been further suppressed. Spatial distribution and source mechanisms of the 2011 Van earthquake's aftershocks have been utilised to define four clusters with regard to their relative location to the mainshock rupture. In addition, the aftershock sequence covers a much broader area toward the northeast. Correlations between the observed spatial patterns of the aftershocks and the coseismic Coulomb stress changes caused by the mainshock are determined by calculating the stress changes over both optimally oriented and specified fault planes. It is shown here that there is an apparent correlation between the mainshock stress changes and the observed spatial pattern of the aftershock occurrence, demonstrating the usefulness of the stress maps in constraining the likely locations of the upcoming aftershocks and mitigating earthquake hazard.

Published
2013

40. Inhibition of poly( ADP-ribose) polymerase may have preventive potential for varicocoele-associated testicular damage in rats.

Author

Celik‐Ozenci, C., Kuscu, N., Gungor‐Ordueri, N. E., Tasatargil, A., Sahin, P., and Durmus, H.

Subjects
POLY ADP ribose, TESTIS injuries, ENZYME inhibitors, OXIDATIVE stress, LABORATORY rats
Abstract

Varicocele is ordinarily accompanied by testicular damage and male infertility. Several theories have been proposed to explain the detrimental effect of varicocele on testis tissue, including the possible effects of oxidative stress. The poly( ADP-ribose) polymerase ( PARP) pathway has been established as a major downstream intracellular pathway of oxidative stress. Recently we have reported that PARP pathway has been activated in varicocele-induced rat testicular damage model. The aim of the present study was to investigate the possible protective effect of PARP inhibition in varicocele-associated testicular damage. Fifty male Wistar rats were divided into five groups: control, sham, varicocele-induced, varicocele-induced 1,5-isoquinolinediol ( ISO, a PARP inhibitor)-treated, and ISO treated groups. The ISO-treated rats received intraperitoneal injections of 3 mg/kg ISO daily for 13 weeks. After 13 weeks of varicocele induction, body and testes weights were investigated in all groups. Histopathology of testes were evaluated by light microscopy. Expressions of PAR, p53 and cytochrome c were detected by immunohistochemistry and cleaved PARP-1, PAR, p53 and cytochrome c by western blot. The degree of apoptosis was determined by TUNEL. Light microscopy revealed testicular damage comprising various degrees of seminiferous tubule degeneration in varicocele-induced rats and their testes weights decreased significantly, whereas ISO administration prevented it. Expressions of cleaved PARP-1, PAR, cytochrome c, and p53 increased significantly in varicocele-induced rats, whereas the level of these molecules were similar to controls in varicocele-induced rats treated with ISO. In conclusion, increased PARP activation in testes seems to be related with testicular damage and apoptosis associated with varicocele and pharmacological inhibition of this pathway might be an effective intervention to prevent varicocele-induced testicular injury. [ABSTRACT FROM AUTHOR]

Published
2017
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41. G.P.138

Author

Yildiz-Celik, S., primary, Durmus, H., additional, Hajibehzad, M., additional, Yilmaz, V., additional, Oflazer-Serdaroglu, P., additional, Parman, Y., additional, Saruhan-Direskeneli, G., additional, and Deyemeer, F., additional

Published
2014
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42. G.P.8

Author

Ozcan, O., primary, Durmus, H., additional, Tarhan, O., additional, Polat, Z., additional, Deymeer, F., additional, Parman, Y., additional, and Oflazer-Serdaroglu, P., additional

Published
2014
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43. A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis

Author

Zisimopoulou, P., primary, Evangelakou, P., additional, Tzartos, J., additional, Lazaridis, K., additional, Zouvelou, V., additional, Mantegazza, R., additional, Antozzi, C., additional, Andreetta, F., additional, Evoli, A., additional, Deymeer, F., additional, Saruhan-Direskeneli, G., additional, Durmus, H., additional, Brenner, T., additional, Vaknin, A., additional, Berrih-Aknin, S., additional, Frenkian Cuvelier, M., additional, Stojkovic, T., additional, DeBaets, M., additional, Losen, M., additional, Martinez-Martinez, P., additional, Kleopa, K.A., additional, Zamba-Papanicolaou, E., additional, Kyriakides, T., additional, Kostera-Pruszczyk, A., additional, Szczudlik, P., additional, Szyluk, B., additional, Lavrnic, D., additional, Basta, I., additional, Peric, S., additional, Tallaksen, C., additional, Maniaol, A., additional, and Tzartos, S.J., additional

Published
2014
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