Researcher: Yunisova, Gulshan
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Yunisova, Gulshan
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Publication Metadata only The clinical and genetic characteristics of 17 cases with congenital myasthenic syndrome: data from a single center (P2-8.002)(Lippincott Williams and Wilkins, 2023) ; Yunisova, Gulshan; Akçay, Ayfer Arduç; Avcı, Şahin; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University HospitalObjective: The aim of this study to investigate the clinical and genetic features of patients with Congenital Myasthenic Syndrome (CMS) in Muscle Disease Center, Koç University Hospital, Turkey. Background: CMS is a group of hereditary disorders of impaired neuromuscular transmission characterized by fatigable muscle weakness. Design/Methods: Herein, we present the characteristics of 17 patients from 14 unrelated families. Results: The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common. CHRNE (homozygous [c.1219+2T>G]; [c.199 G>T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327–1327delG]; [ c. .1327delG and c803-2AA and c.408+5G>A]; homozygous [c.686-2A>G]; [c.44C>T, p.]) (3 patients) and CHAT ([c.1669G>A]) (1 patient): All were ambulatory and had good response to pyridostigmine. COLQ (homozygous [14–15 exons] deletion and c.44G>A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine. AchR epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient):, She showed respiratory distress and markedly response to pyridostigmine. AGRN (novel,homozygous [c.5387G>A and C4217 A>C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol. Conclusions: In our study, similar to many studies, the most common findings were ocular and bulbar symptoms, and the most common genetic disorder was postsynaptic (65%) conduction defects. Disclosure: Dr. Yunisova has nothing to disclose. Dr. ARDUC AKCAY has nothing to disclose. Dr. Avci has nothing to disclose. The institution of Dr. Eraslan has received research support from THE SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY. Prof. Kayserili has received research support from TUBITAK . Prof. Kayserili has received personal compensation in the range of $500-$4,999 for serving as a Projecct PI, advisor, researccher with TUBITAK . Prof. University has nothing to disclose.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 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/A