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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Deproteinized Bovine Bone Mineral With Collagen for Anterior Maxillary Ridge Augmentation: A Retrospective Cohort Study.
Clin Implant Dent Relat Res
February 2025
Department of Implantology, The Affiliated Hospital of Stomatology, School of Stomatology, Zhejiang University School of Medicine, Hangzhou, China.
Objectives: This study aimed to assess the effects of deproteinized bovine bone mineral with collagen (DBBMC) combined with deproteinized bovine bone mineral (DBBM) on facial alveolar bone augmentation in the anterior maxillary region.
Materials And Methods: Patients receiving dental implant placement with simultaneous lateral bone augmentation using DBBM (control group) or DBBMC combined with DBBM (test group) were included in the study. The radiographic assessment of facial alveolar bone, such as facial horizontal bone thickness (FHBT), facial vertical bone level (FVBL), and square of facial bone (SFB), was taken by cone beam computed tomography (CBCT).
Characterization and interactions between piperine and ezetimibe in their Anti-hyperlipidemic efficacy using Biopharmaceutics and Pharmacokinetics.
BMC Pharmacol Toxicol
January 2025
Department of Pharmaceutics and Pharmaceutical Technology, Kampala International University, Western Campus, P.O. Box 71, Ishaka - Bushenyi, Uganda.
Background: Piperine, a secondary metabolite, affects the antihyperlipidemic effect of Ezetimibe (EZ). Hyperlipidemia is one of the independent risk factors for cardiovascular disorders such as atherosclerosis. Antihyperlipidemic drugs are essential for reducing cardiovascular events and patient mortality.
View Article and Find Full Text PDFWhen is synthetic sufficient? Ethical considerations and alternatives in simulation-based ultrasound education.
Adv Simul (Lond)
January 2025
RCSI SIM Centre for Simulation Education and Research, RCSI University of Medicine and Health Sciences, Dublin, Ireland.
Simulation-based education (SBE) has become an integral part of training in health professions education, offering a safe environment for learners to acquire and refine clinical skills. As a non-ionising imaging modality, ultrasound is a domain of health professions education that is particularly supported by SBE. Central to many simulation programs is the use of animal models, tissues, or body parts to replicate human anatomy and physiology.
View Article and Find Full Text PDFTargeting of the G9a, DNMT1 and UHRF1 epigenetic complex as an effective strategy against pancreatic ductal adenocarcinoma.
J Exp Clin Cancer Res
January 2025
Hepatology Laboratory, Solid Tumors Program, CIMA, CCUN, University of Navarra, Pamplona, Spain.
Background: Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer with limited treatment options and a poor prognosis. The critical role of epigenetic alterations such as changes in DNA methylation, histones modifications, and chromatin remodeling, in pancreatic tumors progression is becoming increasingly recognized. Moreover, in PDAC these aberrant epigenetic mechanisms can also limit therapy efficacy.
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