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 PDFFoam-based wound dressing materials produced by dispersing gas phases in a polymeric material are soft, adapt to the body shape, and allow the absorption of wound exudate due to their porous structure. Most of these formulations are based on synthetic substances such as polyurethane. However, biopolymers have entered the field as a new player thanks to their biocompatible and sustainable nature.
View Article and Find Full Text PDFBackground: The ultimate goal of asthma management is to have complete control of the condition, yet the number of patients with uncontrolled asthma continues to rise. This study aims to determine the prevalence of uncontrolled asthma, identify predictive parameters, and compare MART and non-MART treatment regimes.
Methods: A prospective questionnaire was administered to 495 patients who signed the consent form.
2,5-Dihydroxyterephthalic acid (H) is well-known for its use in the construction of functional metal-organic frameworks (MOFs). Among them, simple coordination polymers (CPs), such as lithium and sodium coordination polymers with H, have been used successfully to synthesize electrically conductive MOFs and have also demonstrated great potential as positive or negative electrode materials on their own. However, there has been little exploration of the structure and physicochemical properties of these and other alkali complexes of H.
View Article and Find Full Text PDFSarcoidosis Vasc Diffuse Lung Dis
December 2024
Background: The increase in the prevalence of erosion lesions worldwide has led researchers to develop effective toothpastes with different ingredients to prevent erosion that can protect the tooth surface against acid attacks. There remains a lack of consensus in the literature regarding which toothpaste formulation exhibits the most effective preventive action against erosive tooth wear, highlighting the necessity for further investigation in this field. This study aimed to evaluate the preventive effect of brushing with toothpastes with different ingredients on enamel and dentine erosion.
View Article and Find Full Text PDFBackground: The aim was to investigate which of two different b values (b 500 s/mm² and b 800 s/mm²) are more effective in the differentiation of benign-malignant nodules using Diffusion-Weighted Magnetic Resonance Imaging (DW-MRI).
Materials And Methods: Patients presenting with a preoperative diagnosis of nodular goiter or multinodular goiter were included in this study. These patients underwent neck MRI examinations, and their cases were analyzed retrospectively.
During or after rituximab treatment, various serious side effects may occur. Cerebrovascular diseases are relatively limited among these side effects, and whether they are contingent on rituximab treatment is unclear. This case report highlights an unusual and severe event after rituximab treatment.
View Article and Find Full Text PDFObjective: Tissue heating near the implanted deep brain stimulation (DBS) during magnetic resonance imaging (MRI) poses a significant safety constraint. This study aimed to evaluate the performance of parallel transmit (pTx) head transmit radiofrequency (RF) coils in DBS patients, with a focus on excitation fidelity under specific absorption rate (SAR) control for brain imaging at 3T MRI.
Materials And Methods: We employed electromagnetic simulations to assess different coil configurations, including multi-row pTx coils of 16-24 channels arranged in 1, 2, and 3 rows, and compared these to a circularly polarised and pTx birdcage coil using a realistic human model without and with DBS leads and electrodes.
Restless legs syndrome is usually associated with periodic limb movements during sleep, which are defined as repetitive, stereotyped movements in sleep. Changes in spectral analysis of electroencephalography and heart rate were shown to be associated with periodic limb movements during sleep and non-periodic leg movements in sleep. Considering the circadian distribution of symptoms of restless legs syndrome, we investigated spectral electroencephalography and heart rate accompanying periodic limb movements, isolated leg movements and short-interval leg movements during suggested immobilization test.
View Article and Find Full Text PDFis an edible halophyte and an ingredient in traditional Korean medicine. In the present study, isopimpinellin (IPN), a bioactive coumarin, was isolated from the medicinal halophyte , and the effects of IPN against UVA-induced photoaging were investigated in human dermal fibroblasts. Photoaging is a skin disorder that manifests itself as premature skin aging due to chronic exposure to UV radiation.
View Article and Find Full Text PDFIntroduction: To examine the content of Turkish videos on YouTube about tooth brushing and to evaluate their usefulness in providing information to the public.
Methods: Two keywords were determined using the website Google Trends. For each keyword, the top 100 most watched videos were determined according to the searches made on YouTube and a total of 200 videos were examined.
The use of insects as a food source is not a new idea, but it has gained momentum in recent years due to the need for sustainable protein source in livestock feedstuffs and for more environmentally friendly organic waste treatment. In the case of black soldier fly larvae, , research has focused on their ability to convert organic waste into usable nutrients and their potential as a protein source for animal and human consumption. In this study, black soldier fly larvae were reared on raw food waste (FW) mixed with garlic peel waste (G) and hydronic growth media waste (H) and the proximate composition and bioactive potential of black soldier fly larvae extract (SFL) were compared.
View Article and Find Full Text PDFPurpose: This correlational study aimed to determine the reliability and validity of the Turkish version of the Visual Function Classification System (VFCS) for children with CP.
Method: Two physiotherapists and caregivers ( = 56) applied the VFCS ( = 120) two times at a 15-day interval. Physiotherapists' classifications were compared for interrater reliability.
Background: Vitamin D deficiency is a significant global health concern. Experimental models are essential to elucidate the biochemical, histopathological, and immunological consequences of this deficiency. This study established a vitamin D deficiency rat model to mimic insufficient vitamin D intake and examine the resulting health impacts, particularly on liver, kidney, and immune functions.
View Article and Find Full Text PDFPurpose: Obstructive sleep apnea (OSA) is a heterogeneous disorder requiring personalized diagnostic approaches. Restless sleep and excessive daytime sleepiness (EDS) frequently accompany OSA, and are mainly linked to sleep fragmentation secondary to apneas and/or hypopneas. In this study, we aimed to analyze the characteristics of LMMs in OSA and to evaluate interrelationship between LMMs and EDS.
View Article and Find Full Text PDFBackground Obesity has long been a severe threat to public health as an epidemic, and studies on its pathogenesis and treatment have been ongoing. Our study aims to compare the serum levels of bone morphogenetic protein 1 (BMP1), neuregulin 4 (NRG4), and apolipoprotein A5 (ApoA5) in obese and non-obese individuals and investigate their association with obesity. Methodology Our study included a total of 111 participants, of whom 46 were obese (body mass index (BMI) ≥30 kg/m), aged 18-65 years, and had no comorbidities, and 65 were non-obese (BMI = 18.
View Article and Find Full Text PDFAim: To determine the role of preoperative MRI in the diagnosis and treatment of patients with granulosa cell tumors (GCTs) of the ovary.
Materials And Methods: Twenty-four patients who were operated on between 2018 and 2022 and who were pathologically diagnosed with GHT and met the inclusion criteria were retrospectively examined. The findings were compared with the patients' demographic data, symptoms, surgical findings (laterality, stage, lymph node involvement, endometrial pathology, tumor size), and CA-125 levels.
Objective: In pediatric patients, femoral neck fracture is a relatively rare injury with a high complication rate despite proper diagnosis and treatment. Fixation of femoral neck fractures is usually performed with screws placed along the neck axis. In this study, we aim to compare two different implants and methods in terms of biomechanics.
View Article and Find Full Text PDFIntroduction: Williams syndrome (WS) cases have been reported to have with 25-100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff-Parkinson-White (WPW) syndrome is characterized by short PR interval and delta wave.
View Article and Find Full Text PDFWater scarcity is a growing concern due to rapid urbanization and population growth. This study assesses spring water quality at 20 stations in Giresun province, Türkiye, focusing on potentially toxic elements and physicochemical parameters. The Water Quality Index rated most samples as "excellent" during the rainy season and "good" during the dry season, except at stations 4 (40° 35' 12″ North/38° 26' 34″ East) and 19 (40° 44' 28″ North/38° 06' 53″ West), indicating "poor" quality.
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