Researcher:
Aslanger, Ayça Dilruba

Profile Picture
ORCID

Job Title

Doctor

First Name

Ayça Dilruba

Last Name

Aslanger

Name

Name Variants

Aslanger, Ayça Dilruba

Email Address

Birth Date

Filters

2017 - 201922020 - 20213

Advanced Search

Filter by

Settings

Researcher Of Publications: search.filters.isAuthorOfPublication.b4f917e6-7351-4009-92f4-eb1bc283bb79

Search Results

Now showing 1 - 5 of 5
  • Placeholder
    PublicationMetadata 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; 170592
    Background - 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.
  • Placeholder
    PublicationMetadata 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; 9882
    Background: 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 SAS
  • Placeholder
    PublicationMetadata only
    Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
    (Nature Publishing Group (NPG), 2020) Wang, Lu; Li, Zhen; Sievert, David; Smith, Desiree E. C.; Mendes, Marisa, I; Chen, Dillon Y.; Stanley, Valentina; Ghosh, Shereen; Wang, Yulu; Kara, Majdi; Rosti, Rasim O.; Houlden, Henry; Salomons, Gajja S.; Gleeson, Joseph G.; N/A; Aslanger, Ayça Dilruba; Doctor; N/A; Koç University Hospital; N/A
    Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein translation. Here, we identify biallelic missense and frameshift mutations in NARS1 in seven patients from three unrelated families with microcephaly and neurodevelopmental delay. Patient cells show reduced NARS1 protein, impaired NARS1 activity and impaired global protein synthesis. Cortical brain organoid modeling shows reduced proliferation of radial glial cells (RGCs), leading to smaller organoids characteristic of microcephaly. Single-cell analysis reveals altered constituents of both astrocytic and RGC lineages, suggesting a requirement for NARS1 in RGC proliferation. Our findings demonstrate that NARS1 is required to meet protein synthetic needs and to support RGC proliferation in human brain development. Asparaginyl-tRNA synthetase1 (NARS1) is required for protein synthesis. Here, the authors identify biallelic NARS1 mutations in individuals with microcephaly and neurodevelopmental delay. Cortical brain organoid modeling recapitulates microcephaly characteristics and scRNA-seq reveals a role for NARS1 in radial glial cell proliferation.
  • Placeholder
    PublicationMetadata only
  • Placeholder
    PublicationMetadata only
    Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
    (BMJ PUBLISHING GROUP, 2017) Rosti, Rasim Ozgur; Sotak, Bethany N.; Bielas, Stephanie L.; Bhat, Gifty; Silhavy, Jennifer L.; Altunoglu, Umut; Bilge, Ilmay; Yzaguirrem, Amanda D.; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F.; Gleeson, Joseph G.; N/A; Aslanger, Ayça Dilruba; Taşdemir, Mehmet; Kayserili, Hülya; Bilge, İlmay; Doctor; Faculty Member; Faculty Member; Faculty Member; N/A; N/A; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; 175867; 7945; 198907
    Background Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144). However, not all patients harbour demonstrable WDR73 deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology. Methods Autozygosity mapping and candidate analysis was used to identify deleterious variants in consanguineous families. Analysis of patient fibroblasts was used to study splicing and alterations in cellular function. Results In two consanguineous families with five affected individuals from Turkey with a GAMOS-like presentation, we identified a shared homozygous variant leading to partial exon 4 skipping in nucleoporin, 107-KD (NUP107). The founder mutation was associated with concomitant reduction in NUP107 protein and in the obligate binding partner NUP133 protein, as well as density of nuclear pores in patient cells. Conclusion Recently, NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay. Other NUP107-reported cases had isolated renal phenotypes. With the addition of these individuals, we implicate an allele-specific critical role for NUP107 in the regulation of brain growth and a GAMOS-like presentation.