Researcher: Oflazer, Piraye
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Oflazer, Piraye
Oflazar-Serdaroğlu, Piraye
Oflazar-Serdaroğlu, Piraye
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Publication Metadata only A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy orthopedic surgery in facioscapulohumeral dystrophy(Literatura Medica, 2018) N/A; N/A; N/A; N/A; N/A; N/A; N/A; N/A; N/A; N/A; Çakmak, Özgür Öztop; Eren, İlker; Aslanger, Ayça Dilruba; Günerbüyük, Caner; Kayserili, Hülya; Oflazer, Piraye; Şar, Cüneyt; Demirhan, Mehmet; Özdemir, Yasemin Gürsoy; Faculty Member; Faculty Member; Doctor; Teaching Faculty; Faculty Member; Faculty Member; Doctor; Faculty Member; Faculty Member; School of Medicine; School of Medicine; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koc University Hospital; 107818; 168021; N/A; 380939; 7945; N/A; N/A; 9882; 170592Background - Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. Patients and methods - 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement(1). Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. Results - There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. Conclusion - Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.Publication Metadata only The clinical use of impulse oscillometry in neuromuscular diseases(W. B. Saunders, 2022) Bayraktaroglu, Mesut; N/A; İliaz, Sinem; Yunisova, Gulshan; Çakmak, Özgür Öztop; Çelebi, Özlem; Buluş, Eser; Duman, Arda; Oflazer, Piraye; Doktor; Doktor; Faculty Member; Doktor; Doktor; Doktor; Faculty Member; N/A; N/A; School of Medicine; N/A; N/A; N/A; School of Medicine; Koç University Hospital; Koç University Hospital; N/A; Koç University Hospital; Koç University Hospital; Koç University Hospital; N/A; N/A; N/A; 299358; N/A; N/A; N/A; N/ABackground: The patients with neuromuscular diseases (NMD) are very fragile and it is hard to evaluate respiratory involvement of the primary disease in this group. Therefore, our study aimed to reveal the relationship between pulmonary function tests (PFT) and impulse oscillometry (IOS) and their correlation with respiratory clinical findings in NMD. Material and methods: A total of 86 consecutive patients with NMD were included. The clinical findings of respiratory involvement, PFT, and IOS results of the patients were analyzed. Results: Forty patients out of 86 were female. There were 29 patients with amyotrophic lateral sclerosis, four patients with myasthenia gravis, and 53 patients with muscular dystrophies/myopathies. According to the PFT results, 47 patients had restrictive PFT. However, there was no difference in IOS parameters when we compared the patients according to restrictions in PFT. A positive correlation was found with FVC %pred and X-5. PEF % pred values were positively correlated with X-10, X-15, and X-20, and negatively correlated with A(X) and R5-20. The patients with worse swallowing capability had increased R-rs levels, and more negative X-rs levels. The shortness of breath led to lower FEV1 %pred., higher R-5, A(X) and R5-20, and also more negative X-10, X-15, and X-35. Conclusion: Clinically reported dysphagia, a decreased capability of coughing, and shortness of breath in patients with NMD make R-rs increase in general, but X-rs parameters, which mainly express rib cage elasticity, turn more negative. In patients with NMD, IOS monitoring may help in evaluating the regression in respiratory functions, however, future studies are needed to understand more.Publication Metadata only Expanding disease spectrum of muscular dystrophy(Springernature, 2022) N/A; N/A; Nashabat, Marwan; Avcı, Şahin; Börklü Yücel, Esra; Saraçoğlu, Hilal Pırıl; Oflazer, Piraye; Beillard, Nathalie Sonia Escande; Kayserili, Hülya; Master Student; Faculty Member; Other; PhD Student; Faculty Member; Researcher; Faculty Member; Graduate School of Health Sciences; School of Medicine; School of Medicine; Graduate School of Health Sciences; School of Medicine; School of Medicine; School of Medicine; N/A; N/A; N/A; N/A; N/A; N/A; 7945N/APublication Metadata only Detection of duchene muscular dystrophy carriers with quantitative fluorescent polymerase chain reaction(İnönü Tıp Fakültesi, 2019) Kuşkucu, Ayşegül; Buyru, Nur; Hacıhanefioğlu, Seniha; N/A; Oflazer, Piraye; Faculty Member; School of Medicine; N/AAim: Duchenne Muscular Dystrophy (DMD) is an X-linked, progressive, lethal neuromuscular disorder affecting 1/3500 live-born males. Mutations occur in the dystrophin gene, which is located at Xp21.2. Partial gene deletions occur in two “hot-spot” regions, and can be responsible for up to 60-65% DMD cases, while 5-10% of the cases are caused from clustered gene duplications. Mutations can be inherited from female carriers (2/3) or be de-novo mutations (1/3). Deletions can be easily detected in affected males via multiplex PCR or MLPA. On the contrary, determining the status of female carriers is difficult. The aim of this study is to optimize the gene-dosage method using quantitative fluorescent PCR. Material and Methods: Fluorescently labeled primers are used for amplification and automated detection of amplicons and are designed in multiplex format. The primers contain eighteen exons located within “hot-spot” regions. A promoter region and STR markers are also included in the test as internal controls and for linkage analysis. This is followed by a PCR automated genetic analyzer for the detection of PCR products. This study includes twenty-four families, each with a previously diagnosed member. Results: Results showed the same correlation as was previously reported in nineteen patients, whereas three patients had an extra exon deletion and one patient had one less exon deletion than previously reported. In nineteen families, the mothers were carriers, and in five families, the mothers were not carriers. Conclusion: As a conclusion for carrier screening in DMD patients, quantitative fluorescent PCR is a fast, reproducible and robust method can be used for detection of deletions.Publication Metadata only Functional outcomes and complications following scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy(Lippincott Williams and Wilkins (LWW), 2020) Ersen, Ali; Atalar, Ata Can; N/A; Eren, İlker; Birsel, Olgar; Oflazer, Piraye; Demirhan, Mehmet; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; 168021; 202021; N/A; 9882Background: Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant myopathy characterized by facial and shoulder girdle muscle weakness with scapular winging. Scapulothoracic arthrodesis is a successful treatment approach for patients with Methods: We retrospectively reviewed the records of 40 patients (64 shoulders) in whom scapulothoracic arthrodesis was performed. To achieve fusion, multiple multifilament cables were used together with autologous bone and allograft bone. Preoperative and postoperative shoulder elevation and abduction; Disabilities of the Arm, Shoulder and Hand (Quick version, qDASH) scores; and pulmonary function were compared. Recorded complications were classified as pulmonary or scapular. Results: The mean age of the patients at the time of the operation was 25.4 years (range, 15 to 60 years), and the mean duration of follow-up was 71.2 months (range, 12 to 185 months). When the preoperative values were compared with those at the latest follow-up, significant improvement was noted in terms of elevation (from a mean [and standard deviation] of 60.6 degrees +/- 17.2 degrees to 123.7 degrees +/- 26.7 degrees; p < 0.001), abduction (from 52.7 degrees +/- 15.8 degrees to 98.8 degrees +/- 20.3 degrees; p < 0.001), and qDASH scores (from 34.7 +/- 11.4 to 13.3 +/- 13.1; p < 0.001). The overall complication rate was 26.6%. There were 7 pulmonary complications (4 pneumothoraxes, 2 pleural effusions, and 1 major atelectasis), and 5 chest tube placements were required. Ten complications (including 3 rib fractures, 1 brachial plexus palsy, 2 cases of implant irritation, 2 nonunions, 1 delayed union, and 1 scapular fracture) were related to the scapular fixation, and 7 revision procedures were required. Scapulothoracic fusion was achieved in all patients but 1, who had a scapular fracture. Pulmonary function tests were performed for 19 patients, and no difference was observed between preoperative and postoperative results. Conclusions: Scapulothoracic arthrodesis with use of multifilament cables is a successful surgical technique with high fusion rates and low morbidity. Pulmonary complications are common but resolve with careful attention.Publication Metadata only A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy(Elsevier Masson SAS, 2020) N/A; Eren, İlker; Birsel, Olgar; Çakmak, Özgür Öztop; Aslanger, Ayça Dilruba; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Demirhan, Mehmet; Faculty Member; Faculty Member; Faculty Member; Doctor; Researcher; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; 168021; 202021; 299358; N/A; N/A; 7945; N/A; 9882Background: Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilization in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision making and assess its reliability among surgeons. Methods: Fifty-seven shoulders of 29 patients (15 male, 14 female) with an average age of 34.5 years (13–73) were included. Six stages of the disease were defined to create a system consisting of shoulder elevation, deltoid function and scapular winging. Patients were assessed by two independent orthopaedic surgeons who were blind to each other. Statistical analyses included mean and standard deviation for descriptive variables, Pearson's correlation and Cohen's Kappa for inter and intra observer agreement. Results: Measurement of elevation showed excellent correlation in both inter- and intraobserver assessment. There was substantial agreement on deltoid function and moderate agreement on scapular winging. Decision on stage showed excellent agreement on inter observer and substantial agreement on intra observer assessment. Surgical decision using the stage showed excellent agreement on both inter and intra observer assessment. Conclusion: This novel staging system has an excellent inter observer agreement on FSHD patients’ shoulder disability. This would provide surgeons a beneficial tool to define patient groups that would have negatively or positively affected from STA. © 2020 Elsevier Masson SASPublication Metadata only Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling(Pergamon-Elsevier Science Ltd, 2019) Toksoy, Güven; Durmuş, Hacer; Aghayev, Aliyar; Bagirova, Gulandam; Rustemoglu, Burcu Sevinç; Başaran, Seher; Avcı, Şahin.; Karaman, Birsen; Parman, Yeşim; Altunoğlu, Umut; Yapıcı, Zuhal; Tektürk, Pınar; Deymeer, Feza; Topaloğlu, Haluk; Uyguner, Zehra Oya; N/A; Kayserili, Hülya; Oflazer, Piraye; Faculty Member; Faculty Member; School of Medicine; School of Medicine; 7945; N/AWe genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing of DMD revealed definitive genetic diagnoses in 214 patients (82%), with gross deletions/duplications in 153 (59%), pathogenic sequence variants in 60 (23%), and X-autosome translocation in one. Seven of the gross and 27 of the sequence variants found novel. In silico prediction, co-segregation and transcript assays supported the pathogenic nature of the novel silent (p.Lys534=) and the splice site (c.4345-12C>G) alterations. From a total of 189 singleton cases, 154 (82%) had pathogenic alterations. From 138 of those who had maternal carrier testing, 68 out of 103 (66%) showed gross and 11 out of 35 (31%) showed small pathogenic variants. This suggests that the de novo occurrences in DMD appear approximately 2.1 times more frequently in meiotic unequal crossing-over than in uncorrected replication errors. Our study also disclosed three mothers as obligate gonadal mosaic carriers. Family-based investigation of dystrophinopathy patients is crucial for the ascertainment of novel or rare variants and also for counseling and follow-up care of the families.Publication Metadata only Sorbitol-dehydrogenase (SORD) gene mutation as a curable cause of charcot-marie-tooth 2 (CMT-2) and distal hereditary motor neuronopathy (D-HMN)(Wiley, 2022) N/A; N/A; N/A; N/A; N/A; Yunisova, Gulshan; Avcı, Şahin; Akçay, Ayfer Arduç; Kayserili, Hülya; Oflazer, Piraye; Doctor; Faculty Member; Faculty Member; Faculty Member; Faculty Member; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; N/A; 162811; 7945; N/AN/APublication Metadata only Facial nerve involvement in amyotrophic lateral sclerosis: two case reports(Wiley, 2022) Yunisova, Gulshan; Oflazer, Piraye; Doctor; Faculty Member; N/A; School of Medicine; Koç University Hospital; N/A; N/AN/APublication Metadata only Clinical exome sequencing in neuromuscular diseases: an experience from Turkey(Springer-Verlag Italia Srl, 2020) N/A; N/A; N/A; N/A; N/A; N/A; N/A; Börklü Yücel, Esra; Demiriz, Çiğdem; Avcı, Şahin; Vanlı-Yavuz, Ebru Nur; Eraslan, Serpil; Oflazer, Piraye; Kayserili, Hülya; Other; N/A; Faculty Member; Doctor; Researcher; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A: N/A; N/A; 251177; N/A; N/A; 7945Neuromuscular diseases (NMDs) encompass a variety of ailments from muscular dystrophies to ataxias, in the course of which the functioning of the muscles is eventually either directly or indirectly impaired. The clinical diagnosis of a particular NMD is not always straightforward due to the clinical and genetic heterogeneity of the disorders under investigation. Traditional diagnostic tools such as electrophysiological tests and muscle biopsies are both invasive and painful methods, causing the patients to be reluctant. Next-generation sequencing, on the other hand, emerged as an alternative method for the diagnosis of NMDs, both with its minimally invasive nature and fast processing period. In this study, clinical exome sequencing (CES) was applied to a cohort of 70 probands in Turkey, 44 of whom received a final diagnosis, representing a diagnostic rate of 62.9%. Out of the 50 mutations identified to be causal, 26 were novel in the known 27 NMD genes. Two probands had complex/blended phenotypes. Molecular confirmation of clinical diagnosis of NMDs has a major prognostic impact and is crucial for the management and the possibility of alternative reproductive options. CES, which has been increasingly adopted to diagnose single-gene disorders, is also a powerful tool for revealing the etiopathogenesis in complex/blended phenotypes, as observed in two probands of the cohort.