Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .
View Article and Find Full Text PDFThe Australian Spasticity Assessment Scale (ASAS) is a relatively new scale used to rate the severity of spasticity. Although the reliability of the ASAS has been investigated, its ability to detect a clinically important change (responsiveness) has not. The objective of this study was to investigate the responsiveness of the ASAS in adult patients with acquired brain injury-related wrist flexor spasticity treated with botulinum neurotoxin A.
View Article and Find Full Text PDFInt J Nurs Pract
December 2024
Aim: This study examines the validity and reliability of a Turkish version of the State-Trait Anxiety Inventory Short Version.
Methods: The sample consisted of 306 people between the ages of 18-59 who agreed to participate in the study and met the inclusion criteria. Data were collected with the demographic questionnaire, State-Trait Anxiety Inventory Short Version, State-Trait Anxiety Inventory and Brief Fear of Negative Evaluation Scale.
Purpose: To assess the early metabolic response of the primary tumor using Gallium-68 (Ga)-labeled-prostate-specific membrane antigen positron emission tomography (Ga-PSMA-PET/CT), as well as the relationship between PSMA change in the primary tumor and PSA response after definitive radiotherapy (RT), either alone or in combination with androgen deprivation therapy (ADT) in intermediate risk prostate cancer (IR-PCa) patients.
Methods: The clinical data of 71 IR-PCa patients treated with RT alone (36 patients, 50.7%) or RT and ADT (35 patients, 49.
Purpose: This study sought to determine the predictive and prognostic value of clinicopathological parameters and neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and hemoglobin (Hgb) level in predicting recurrence patterns and locoregional relapse-free survival (LRFS) and distant metastasis-free survival (DMFS) in cervical cancer patients receiving definitive chemoradiotherapy (ChRT).
Methods: This study included 261 cervical cancer patients treated with ChRT. The primary endpoints were the predictors of local recurrence (LR) and distant metastasis (DM), whereas the secondary endpoints were LRFS and DMFS.
Introduction: Sleep disturbances are being increasingly recognized in association with autoimmune encephalitis (AIE). We investigated the prevalence of sleep-related symptoms and polysomnographic features of patients with AIE and the long-term outcomes in these patients in a multi-center, prospective study from Turkey.
Methods: We prospectively evaluated patients with definite AIE in a common database including demographics, AIE-related and sleep-related symptomatology.
, a notable drug-resistant bacterium, often induces severe infections in healthcare settings, prompting a deeper exploration of treatment alternatives due to escalating carbapenem resistance. This study meticulously examined clinical, microbiological, and molecular aspects related to in-hospital mortality in patients with carbapenem-resistant . (CRAB) bloodstream infections (BSIs).
View Article and Find Full Text PDFBackground/aim: To compare implant sparing irradiation with conventional radiotherapy (RT) using helical (H) and TomoDirect (TD) techniques in breast cancer patients undergoing immediate breast reconstruction (IBR).
Patients And Methods: The dosimetric parameters of 40 patients with retropectoral implants receiving 50.4 Gy delivered in 28 fractions were analyzed.
Purpose: To compare the biochemical failure (FFBF) and prostate cancer specific survival (PCSS) rates of patients with intermediate-risk prostate cancer (IR-PC) who were treated with 6 months of androgen deprivation therapy (ADT) with 78 Gy to the prostate, those treated with ADT and focal boost (FB) of 86 Gy to intraprostatic lesion (IPL) using the simultaneous-integrated boost (SIB) technique, and those treated with SIB alone.
Materials And Methods: A retrospective analysis of 320 IR-PC patients treated between January 2012 and April 2021 was performed. Patients were divided into three groups based on their treatment arm: 78 + ADT (109 patients, 34.
Objective: The aim of this study was to evaluate the posterior condylar angle (PCA) and condylar twist angle (CTA) of the distal femur in the Turkish population and its concordance with the current standard prosthesis guides used in total knee arthroplasty (TKA).
Methods: Two hundred and forty knees of 120 Turkish subjects (60 male and 60 female) were included in this study. PCA, CTA, femoral mediolateral lengths (fML), medial femoral anteroposterior lengths (fMAP), lateral femoral anteroposterior lengths (fLAP), distances between the trochlear groove and fMAP (DBTG-fMAP), distances between the trochlear groove and fLAP (DBTG-fLAP), medial posterior condylar cartilage thickness (MPCCT) and lateral posterior condylar cartilage thicknesses (LPCCT) were measured on magnetic resonance imaging (MRI).
Purpose: The aim of this prospective study was to investigate the diagnostic performance of shear wave elastography (SWE) in differentiating benign and malignant thyroid nodules and their correlation with the American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS).
Methods: This prospective study included 370 thyroid nodules in 308 patients aged 18-70 years. All the patients underwent B-mode ultrasound (US), Doppler examination, and SWE and were given an ACR TI-RADS risk score before fine needle aspiration biopsy (FNAB) and/or surgery.