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| http://dx.doi.org/10.1055/s-0030-1267113 | DOI Listing |
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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).
The value-for-money assessment and funding arrangements for high-priced drugs in an era of uncertainty: a comparative analysis of national health technology assessment agencies in South Korea, England, Australia, and Canada.
BMC Health Serv Res
January 2025
College of Pharmacy, Gyeongsang National University, 501 Jinju-Daero, Jinju, 52828, Republic of Korea.
Background: Innovative health technologies have increasingly emerged as a promising solution for patients with untreatable or challenging conditions. However, these technologies often come with expensive costs and limited evidence at the time of launch. This study assessed how these high-priced drugs with limited evidence were appraised and introduced in South Korea, England, Australia, and Canada, where cost-effectiveness analysis (CEA) generally plays a central role in pricing and reimbursement decisions.
View Article and Find Full Text PDFCost-utility analysis of combination medical therapies in chronic coronary syndrome: a comparative study using real-world and patient-level data from Iran.
BMJ Open
January 2025
Pharmaceutical Sciences Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran (the Islamic Republic of).
Objectives: The main objective was to evaluate the cost-effectiveness of various medical therapy combinations in managing chronic coronary syndrome (CCS) in Iran, based on real-world and patient-level data.
Design: A cost-utility analysis employing a Markov model was conducted using data from a retrospective cohort study.
Setting: The study was conducted in the healthcare setting of Iran, focusing on primary and secondary care.
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Am J Hum Genet
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboudumc Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:
Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare diseases.
View Article and Find Full Text PDFRecruiting Young People for Digital Mental Health Research: Lessons From an AI-Driven Adaptive Trial.
J Med Internet Res
January 2025
Black Dog Institute, University of New South Wales, Sydney, Australia.
Background: With increasing adoption of remote clinical trials in digital mental health, identifying cost-effective and time-efficient recruitment methodologies is crucial for the success of such trials. Evidence on whether web-based recruitment methods are more effective than traditional methods such as newspapers, media, or flyers is inconsistent. Here we present insights from our experience recruiting tertiary education students for a digital mental health artificial intelligence-driven adaptive trial-Vibe Up.
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