A database for screening and registering late onset Pompe disease in Turkey

Autor:	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
Přispěvatelé:	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, Kotan Dündar, Dilcan
Rok vydání:	2018
Předmět:	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
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520ff9dd508a5728ee93969a256d2b94 https://hdl.handle.net/20.500.12619/71235 Zobrazit plný text záznamu