Yazar "Oflazer, Zehra Piraye" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • Küçük Resim
    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 Piraye
    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.
  • Küçük Resim
    Öğe
    Relation of HLA-DRB1 to IgG4 autoantibody and cytokine production in muscle-specific tyrosine kinase myasthenia gravis (MuSK-MG)
    (Wiley, 2019) Çebi, Merve; Durmuş, Hacer; Yılmaz, Vuslat; Yentür, Sibel Penbe; Aysal, Fikret; Oflazer, Zehra Piraye; Parman, Yeşim Gülşen; Deymeer, Feza; Saruhan-Direskeneli, Güher
    A small subset of myasthenia gravis (MG) patients develop autoantibodies against muscle-specific kinase (MuSK), which are predominantly of the immunoglobulin (Ig)G4 isotype. MuSK-MG is strongly associated with HLA-DRB1*14, HLA-DRB1*16 and HLA-DQB1*05. In this study, the possible effects of these HLA associations on MuSK IgG autoantibody or cytokine production were investigated. Samples from 80 MG patients with MuSK antibodies were studied. The disease-associated HLA types were screened in the DNA samples. The IgG1, IgG2, IgG3 and IgG4 titres of the MuSK antibodies and the levels of interleukin (IL)-4, IL-6, IL-17A and IL-10 were measured in the sera. Comparisons were made among the groups with or without HLA-DRB1*14, HLA-DRB1*16 or HLA-DQB1*05. The IgG4 titres of the MuSK antibodies were higher than those of the IgG1, IgG2 and IgG3 isotypes among the whole group of patients. DRB1*14 (+) DRB1*16 (–) patients had higher levels of IgG4 antibodies than those of DRB1*14 (–) DRB1*16 (+) patients. DRB1*14 (+) DRB1*16 (+) patients also had higher levels of IgG4 antibodies than those of DRB1*14 (–) DRB1*16 (+) and DRB1*14 (–) DRB1*16 (–) patients. Higher IL-10 and lower IL-17A levels were measured in DRB1*14 (+) DRB1*16 (–) patients than in DRB1*14 (–) DRB1*16 (–) patients. The higher IgG4 titres of MuSK autoantibodies in patients carrying HLA-DRB1*14 than those in the other patients suggest a role for HLA in the production of the antibodies. The differences in IL-10 and IL-17A support the role of DRB1 in the etiopathogenesis of this autoimmune response.
  • Küçük Resim
    Öğe
    Turkish version of the motor function measure scale (MFM-32) for neuromuscular diseases: A cross-cultural adaptation, reliability, and validity study
    (TUBİTAK Scientific & Technical Research Council Turkey, 2017) İnal, Habibe Serap; Tarakçı, Ela; Tarakçı, Devrim; Aksoy, Gülcan; Mergen Kılıç, Sezan; Beşer, Hakan; Beşer, Çiğdem; Özdinçler, Arzu Razak; Durmuş Tekçe, Hacer; Parman, Fatma Yeşim; Deymeer, Feza; Oflazer, Zehra Piraye
    Background/aim: The Motor Function Measure (MFM-32) is a classification system for ambulant and nonambulant patients with neuromuscular diseases (NMDs). We aimed to translate it into Turkish, culturally adapt it, and test its reliability and validity for Turkish patients with NMDs. Materials and methods: The translation of the 32 items assessing three functional areas: standing position and transfers (D1: 13), axial/proximal (D2: 12), and distal (D3: 7) motor functions was performed according to the established guidelines for cross-cultural adaptation. Totally 51 patients (12.56 +/- 8.84 years; F/M 12/39) were tested. Vignos and Brooke scores for the lower and upper extremities, respectively, were used for the validity of the MFM-32-TR items, which were rated on a 4-point Likert scale. Results: The agreement coefficients for interrater reliability were excellent (0.72-0.93) for 10 items, good (0.58-0.77) for 16 items, and moderate (0.42-0.56) for 6 items of the MFM-32-TR. The intertester reliability varied from good to excellent and the intraclass correlation coefficient was 0.76-0.93. The MFM-32-TR positively correlated with Vignos and Brooke scores with coefficients 0.47 to 0.75, indicating concurrent validity. Conclusion: The MFM-32-TR is a reliable and valid outcome measure for the assessment of motor function of people with NMDs in our sociocultural context.