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Toplam kayıt 46, listelenen: 31-40
Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
(Academic Press Inc., 2020)
Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of ...
Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer
(Elsevier Inc., 2020)
Mutations in two major breast cancer susceptibility genes, BRCA1 and BRCA2, have been identified to be the most important predisposing factors for the development of breast cancer. Thus, BRCA1/2 testing is a well-established ...
The gut microbiome in epilepsy
(Academic Press, 2020)
The close relationship between epilepsy and autoimmune diseases and the fact that the cause of epilepsy is idiopathic in 60% of cases suggest that intestinal microbiota may play a role in the etiology of epilepsy. In this ...
Coping with stress during the first wave of the COVID-19 pandemic by Turkish people with Multiple Sclerosis: the relationship between perceived stress and quality of life
(Elsevier B.V., 2021)
Background: Multiple sclerosis (MS) is a chronic inflammatory disease and acute exacerbations are also a part of the clinical course. The presence of the disease and relapses cause stress in people with MS (pwMS). For this ...
Altered thiol/disulfide homeostasis and ischemia-modified albumin levels in children with irritable bowel syndrome
(John Wiley and Sons Inc, 2021)
Background: In this study, we assessed thiol/disulfide homeostasis (TDH) parameters and ischemia-modified albumin (IMA) levels in children with irritable bowel syndrome (IBS) compared with healthy children. Methods: Fifty-six ...
Performance of different criteria sets for inflammatory back pain in patients with axial spondyloarthritis with and without radiographic sacroiliitis
(Springer London, 2014)
It is important to recognize inflammatory back pain (IBP) for an early diagnosis of ankylosing spondylitis (AS). Assessment of Spondyloarthritis International Society (ASAS) has recently published new criteria set for ...
A database for screening and registering late onset Pompe disease in Turkey
(Elsevier Ltd, 2018)
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 ...
Diagnostic Importance of Axial Loaded Magnetic Resonance Imaging in Patients with Suspected Lumbar Spinal Canal Stenosis
(Elsevier Inc., 2019)
Objective and Background: To study the efficacy of lumbar (AL) magnetic resonance imaging (MRI) in patients with suspected lumbar spinal stenosis (LSS), with and without AL compression. Supine MRI is used in the assessment ...
Arthroscopic synovectomy in the treatment of functional ankle instability: Outcomes and gait analysis
(Springer-Verlag France, 2015)
Background Natural consequence of repetitive ankle sprains is the chronic ankle instability. Objective of this study was to clarify the gait patterns of functional ankle instability (FAI) patients after arthroscopic ...
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
(Nature Publishing Group, 2016)
Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ...