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A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.
Mol Biol Rep
January 2025
Department of Zoology, The University of Burdwan, Bardhaman, West Bengal, 713104, India.
Background: This study aimed to develop and validate a targeted next-generation sequencing (NGS) panel along with a data analysis algorithm capable of detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) within the beta-globin gene cluster. The aim was to reduce the turnaround time in conventional genotyping methods and provide a rapid and comprehensive solution for prenatal diagnosis, carrier screening, and genotyping of β-thalassemia patients.
Methods And Results: We devised a targeted NGS panel spanning an 80.
[Efficacy and safety of intracardiac echocardiography-guided "one-stop" procedures combining radiofrequency catheter ablation and left atrial appendage closure in elderly patients with atrial fibrillation].
Zhonghua Xin Xue Guan Bing Za Zhi
January 2025
Department of Cardiology, General Hospital of Northern Theater Command, National Key Laboratory of Frigid Zone Cardiovascular Diseases, Shenyang110016, China.
To assess the efficacy and safety of "one-stop" procedures combining radiofrequency catheter ablation and left atrial appendage closure by guidance of intracardiac echocardiography(ICE) in elderly patients with atrial fibrillation. A retrospective cohort study was conducted on patients who underwent ICE-guided "one-stop" procedures at the Department of Cardiology, General Hospital of Northern Theater Command between December 2020 and January 2023. Patients were divided into elderly group (age≥60 years old) and non-elderly group (age 18-59 years old).
View Article and Find Full Text PDFRisk assessment and quality management in AIO based on CT-linac for nasopharyngeal carcinoma: An improved FMEA and FTA approach.
Med Phys
January 2025
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center, Guangzhou, P. R. China.
Article Synopsis
- AIO radiotherapy integrates all conventional steps into one device, improving efficiency and reducing errors for cancer patients while facing challenges like software complexity and AI reliance.
- A risk assessment using FMEA and FTA was conducted to evaluate the quality management measures for nasopharyngeal carcinoma treatment.
- Results showed 86 failure modes identified, with risk priority numbers indicating varying levels of risk, emphasizing the importance of implementing quality management measures for safety.
Whole-genome automated assembly pipeline for strains from reference, and clinical samples using the integrated CtGAP pipeline.
NAR Genom Bioinform
March 2025
Departments of Medicine and Pediatrics, Division of Infectious Diseases and Global Health, University of California San Francisco School of Medicine, 550 16th Street, 4th Floor Mission Hall, San Francisco, CA, 94158, USA.
Whole genome sequencing (WGS) is pivotal for the molecular characterization of ()-the leading bacterial cause of sexually transmitted infections and infectious blindness worldwide. WGS can inform epidemiologic, public health and outbreak investigations of these human-restricted pathogens. However, challenges persist in generating high-quality genomes for downstream analyses given its obligate intracellular nature and difficulty with propagation.
View Article and Find Full Text PDFOne-stop endovenous laser ablation leads to superior outcomes for varicose veins and iliac vein compression.
Sci Rep
January 2025
Department of Vascular Surgery, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu, 210009, China.
To retrospectivly investigate the short-term clinical outcomes of one-stop and two-staged endovenous laser ablation (EVLA) procedures for treatment of varicose veins (VVs) and iliac vein compression syndrome (IVCS). In this study, 424 patients were treated for VVs and IVCS from June 2017 to June 2020, 91 underwent one-stop stent angioplasty (SA) and EVLA, 132 underwent two-staged SA and EVLA, 104 underwent one-stop balloon angioplasty (BA) and EVLA, and 97 underwent two-staged BA and EVLA. Clinical outcomes and complications were recorded at 3 and 12 months post-intervention.
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