Browsing by Author "Tutkavul, Kemal"
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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 Investigation of neuromuscular transmission in some rare types of migraine(Sage Publications Ltd, 2007-11) Baslo, Mehmet Barış; Çoban, Arzu; Baykan, Betül; Tutkavul, Kemal; Saip, Sabahattin; Kocasoy Orhan, Elif; Ertaş, Mustafa; Karlı, Necdet; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JDE-9380-2023; 6506587942The aim of this study was to delineate any dysfunction of neuromuscular transmission (NMT) by single-fibre electromyography (SFEMG) in some rare types of migraine. Recent studies have shown subclinical dysfunction of NMT in migraine with aura and cluster headache by using SFEMG, whereas another recent study has shown NMT to be normal in familial hemiplegic migraine (FHM) with CACNA1A mutations. Thirty patients with rare primary headache syndromes [18 with sporadic hemiplegic migraine (SHM), six with FHM and six with basilar-type migraine (BM)] and 15 healthy control subjects without any headache complaints underwent nerve conduction studies, EMG and SFEMG during voluntary contraction of the extensor digitorum communis muscle. Ten to 20 different potential pairs were recorded and individual jitter values calculated. The results obtained from patient groups were compared with those from the normal subjects. Of 600 individual jitter values of the patients, 27 (4.5%) were abnormally high, whereas only 3/205 (1.5%) jitter values from normal subjects were abnormal. Abnormal NMT was found in 4/30 (13.3%) patients (three SHM and one BM), but in none of the control subjects. Only in SHM patients was the number of individual abnormal jitter values slightly but significantly different from normal controls. The present study demonstrates that subclinical NMT abnormality is slightly present in only SHM and BM patients, but not in FHM patients.