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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).
Impact of worklist selection on point-of-care ultrasound workflow - a quality improvement project.
BMC Health Serv Res
January 2025
Department of Emergency Medicine, University of California, Irvine, Orange, CA, 92868, USA.
Background: Research demonstrates that Point-of-care ultrasound (POCUS) improves clinical outcomes for patients. Improving clinician satisfaction with POCUS should promote utilization into everyday practice, leading to improved clinical outcomes. Despite this benefit, there are still barriers to use including POCUS workflow.
View Article and Find Full Text PDFConstruction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function.
BMC Med Genomics
January 2025
Department of Oncology, The First People's Hospital of Yibin, No.65, Wenxing Street, Cuiping District, Yibin, 644000, China.
Background: Advanced gastric cancer (GC) exhibits a high recurrence rate and a dismal prognosis. Myocyte enhancer factor 2c (MEF2C) was found to contribute to the development of various types of cancer. Therefore, our aim is to develop a prognostic model that predicts the prognosis of GC patients and initially explore the role of MEF2C in immunotherapy for GC.
View Article and Find Full Text PDFIntegrated analysis of the prevalence and influencing factors of poststroke dysphagia.
Eur J Med Res
January 2025
Clinical Research and Big Data Center, South China Research Center for Acupuncture and Moxibustion, Medical College of Acu-Moxi and Rehabilitation, Guangzhou University of Chinese Medicine, Guangzhou, China.
Objectives: Poststroke dysphagia (PSD) is a common complication after stroke but there is limited information on its global prevalence and influencing factors, such as spatial, temporal, demographic characteristics, and stroke-related factors. Our study seeks to fill this knowledge gap by exploring the overall prevalence of PSD and its influencing factors.
Methods: A search of English-language literature from database inception from 2005 until May 2022 was performed using PubMed, Embase, Web of Science, Cochrane Library, and Scopus.
Application of failure model and effect analysis in nursing care for patients who have undergone endoscopic sub-mucosal dissection.
BMC Nurs
January 2025
Nursing Department, Zhengzhou Central Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan, 450000, China.
Objective: The objective of this study is to investigate the effect after the application of Failure Model and Effect Analysis (FMEA) in nursing care for patients who have undergone endoscopic submucosal dissection (ESD).
Methods: A cohort of 40 patients who underwent ESD between July and September 2023 were selected as the control group, while 42 patients who underwent ESD between October 2023 and June 2024 after implementing FMEA were selected as the observation group. A multidisciplinary team was established based on the FMEA model to analyze and create a nursing flowchart.
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