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Refinement of a Published Gene-Physical Activity Interaction Impacting HDL-Cholesterol: Role of Sex and Lipoprotein Subfractions.
Genet Epidemiol
January 2025
Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).
View Article and Find Full Text PDFInterpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Fracture Resistance and Wear Behavior of Ultra-Thin Occlusal Veneers Made From Translucent Zirconia Ceramics Bonded to Different Tooth Substrates.
J Esthet Restor Dent
January 2025
Department of Prosthodontics, Propaedeutics and Dental Materials, School of Dentistry, Christian-Albrechts University at Kiel, Kiel, Germany.
Objective: Investigation of the mechanical properties of occlusal veneers made from zirconia with varying translucency, bonded to different tooth substrates.
Materials And Methods: Sixty-four extracted molars were divided into two groups: preparation within enamel (E) or extending into dentin (D). Veneers were milled from four zirconia ceramics (n = 8): 5Y-TZP (HT), a multilayer of 5 and 3Y-TZP (GT), 3Y-TZP (LT), and 4Y-TZP (MT).
Exploring esophagogastric junction morphology and contractile integral: implications for refractory gastroesophageal reflux disease pathophysiology.
Scand J Gastroenterol
January 2025
Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Xiamen Branch, Xiamen, China.
Background: Evaluate the clinical significance of esophagogastric junction (EGJ) morphology and esophagogastric junction contractile integral (EGJ-CI) in refractory gastroesophageal reflux disease (RGERD) patients.
Methods: From June 2021 to June 2023, 144 RGERD patients underwent comprehensive evaluation, recording symptom scores, demographic data. GERD classification (NERD or RE, A-D) was based on endoscopic findings.
Apparent diffusion coefficient and magnetic resonance imaging characteristics in predicting response to radiosurgery in patients with vestibular schwannomas.
Neuroradiol J
January 2025
Division of Diagnostic Radiology, Department of Radiology, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
Objective: Predicting treatment response in patients with vestibular schwannomas (VSs) remains challenging. This study aimed to evaluate the use of pre-treatment normalized apparent diffusion coefficient (nADC) values and magnetic resonance (MR) imaging characteristics in predicting treatment outcomes in patients with VSs undergoing radiosurgery.
Methods: The MR images of 44 patients with VSs who underwent radiosurgery at our institution were retrospectively reviewed, and the patients were categorized into tumor control ( = 28) and progression ( = 16) groups based on treatment response after treatment initiation, with a median follow-up duration of 29.
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