Researcher:
Akçay, Ayfer Arduç

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Ayfer Arduç

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Akçay

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Akçay, Ayfer Arduç

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2022 - 20246

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    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 Hospital
    Objective: 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.
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    The clinical value of amplitude-integrated electroencephalography in a historical cohort with neonatal encephalopathy: a comparison of short-term versus prolonged-period monitoring
    (Elsevier Sci Ltd, 2024) Tekgül, Hasan; Yalaz, Mehmet; Kanmaz, Seda; Terek, Demet; Aktan, Gül; Köroğlu, Özge A.; Yılmaz, Sanem; Akisu, Mete; Kültürsay, Nilgün; Akçay, Ayfer Arduç; School of Medicine
    Background: To compare the amplitude -integrated electroencephalography (aEEG) monitoring (short-term versus prolonged -period) for neonatal seizure detection and outcome. Methods: The aEEG monitoring in a historical cohort (n = 88, preterm:42, and term:46) with neonatal encephalopathy between 2010-2022 was re-evaluated for neonatal seizures (electrographic, electro-clinical, and clinical seizures) and EEG background scoring. The cohort was dichotomized: group I (short -period with 6-12 h, n = 36) and group II (prolonged -period with 24-48 h, n = 52). Both monitoring types were evaluated for the diagnostic accuracy of the "patients with seizures" and for outcome characteristics (early death as well as adverse outcomes at 12 months of age). Results: A total of 67 (76 %) neonates of the cohort were diagnosed as "patients with seizures": electrographiconly seizures in 10 (15 %), electro-clinical seizures in 22 (33 %), and clinical -only seizures in 35 (52 %). The aEEG provides the "patients with seizures" in neonates with a 36.5 % rate with both types of monitoring: 17/36 (47.2 %) with short-term and 15/52 (28.8 %) with prolonged -period monitoring. The prolonged period aEEG had higher diagnostic values for seizure detection ( sensitivity = 0.73 and negative predictivity value = 0.81 ). However, the aEEG background scores were similar for both types of aEEG monitoring, respectively ( the mean +/- SD: 4.73 +/- 2.9 versus 4.4 +/- 4. p = 0.837 ). The aEEG scoring was correlated with the magnitude of brain injury documented with MRI, the early death, and the adverse outcome at 12 months of age. Conclusions: Both aEEG types are valuable for monitoring the "patients with seizures" and outcome characteristics.
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    Comparison of the effects of abdominal massage and osteopathic manipulative treatment home program on constipation in children with cerebral palsy
    (Wiley, 2024) Chatip, Aisel T.; Acar, Gonul; Akçay, Ayfer Arduç; School of Medicine
    Background and AimThe aim of this study is to compare the effects of osteopathic manipulative therapy home program (OMT-H) versus abdominal massage home program (AMHP) in treating constipation in children with cerebral palsy (CP).MethodsTwenty-nine children with CP with a mean age of 12.2 +/- 3.76 years, who were constipated and were not on medication, were divided into three randomized groups: (i) control group (n = 10), (ii) AMHP (n = 10), and (iii) OMT-H (n = 9). In AMHP and OMT-H groups, treatment was applied as 20-min sessions every other day for 10 sessions for 3 weeks. Modified Constipation Assessment Scale (MCAS), Rome III criteria, and the Bristol Stool Form Scale (BSFS) were used for evaluation before treatment and once a week during treatment.ResultsWhile there was no change in constipation symptoms in the control group, there was an improvement in constipation symptoms after treatment in the AMHP and OMT-H groups (AMHP, P = 0.003; OMT-H, P = 0.000014). While the treatment showed to be effective from the first week in the OMT-H group, the change in BSFS (P = 0.026) and MCAS sub-parameters was found to be superior.ConclusionAMHP and OMT-H are effective and beneficial in treating constipation. In children with CP, OMT-H was found to be quicker and more successful compared with AMHP. The OMT-H can be effectively used in clinical practice in relieving constipation in CP. In our study to investigate the best approach to the problem of constipation, which complicates daily life in children with cerebral palsy, and to evaluate the applicability of these treatments by mothers/caregivers at home, we examined the symptoms seen in children; Complaints such as stool consistency, frequency of defecation, abdominal bloating, and inability to pass stool resolved in a short time. Osteopathic treatment is considered a useful and effective approach in the treatment of constipation in cerebral palsy. image
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    Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
    (Elsevier B.V., 2023) Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Ekici, Barış; Chousein, Amet; Yüksel, Atıl; Altunoğlu, Umut; Akçay, Ayfer Arduç; Avcı, Şahin; Kayserili, Hülya; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 126174; 162811; N/A; 7945
    Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients. © 2022 Elsevier B.V.
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    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/A
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    Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report
    (BioMed Central Ltd, 2023) Öztürk, Figen; Akçay, Ayfer Arduç; Biçer, Mehmet; Kozan, Şima; Faculty Member; Faculty Member; Undergraduate Student; School of Medicine; School of Medicine; School of Medicine; 162811; 310599; N/A
    Introduction: Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. Cardiac pathology co-existence is reported more frequently in the severely affected patient groups. Structural heart anomalies, mainly septal, and outflow tract defects are commonly observed pathologies. Case presentation: We herein report the case of a 23 days-old female patient with the diagnosis of spinal muscular atrophy type 2 complicated with structural heart defects. Successful pulmonary banding, and at the age of 17 months, subsequent surgical atrial and ventricular septal defect closure were performed on our patient who was under treatment of Nusinersen Sodium. Post-operative recovery was uncomplicated. Cardiac assessments were normal, and the patient was neurologically improving in her recent follow-up. Conclusion: In the literature, there are no reported cases of successful surgical repair of heart defects in spinal muscular atrophy patients. These patients can be perceived as risky surgical candidates with suboptimal postoperative recovery given the unfavorable disease prognosis of SMA in untreated patients. We report our promising experience with a SMA type 2 patient undergoing a disease-modifying medical treatment. The SMA patients under treatment may be potential candidates for successful surgical cardiac correction given their overall improved prognosis. © 2023, The Author(s).