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Advancing trial recruitment science through enhanced study design.
Cancer
January 2025
Department of Urology, University of Michigan, Ann Arbor, Michigan, USA.
A new phase of China-ASEAN health cooperation: the China-ASEAN Beijing Declaration on Cooperation in Innovation of Health Products and Technologies.
Glob Health Res Policy
January 2025
Department of Global Health, School of Public Health, Peking University, Beijing, China.
Utilizing innovative methods to advance the research and development (R&D) of health products and enhance their accessibility has become crucial to achieving universal health coverage, addressing public health emergencies, and promoting population health and wellbeing. However, structural contradictions do exist in the supply and demand of health products in the Association of Southeast Asian Nations (ASEAN). With the joint support of the Ministry of Science and Technology of China, the Ministry of Education, and the China-ASEAN Center, Peking University established the China-ASEAN Science and Technology Cooperation Center for Public Health in April 2023.
View Article and Find Full Text PDFHigh 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).
Machine learning and multi-omics in precision medicine for ME/CFS.
J Transl Med
January 2025
Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, VIC, 3052, Australia.
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex and multifaceted disorder that defies simplistic characterisation. Traditional approaches to diagnosing and treating ME/CFS have often fallen short due to the condition's heterogeneity and the lack of validated biomarkers. The growing field of precision medicine offers a promising approach which focuses on the genetic and molecular underpinnings of individual patients.
View Article and Find Full Text PDFExploring strategies to enhance patient safety in spine surgery: a review.
Patient Saf Surg
January 2025
Department of Neurosurgery, Kermanshah University of Medical Sciences, Kermanshah, Iran.
Patient safety is the foundation of spine surgery, where the intricate nature of spinal procedures and the unique risks involved call for exceptional diligence and comprehensive protocols. In this high-stakes field, developing and implementing rigorous safety protocols is not only vital for minimizing complications but also for achieving the best possible outcomes and strengthening the confidence patients have in their care team. Each patient entrusts their well-being to their surgical team.
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