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Background: Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.
Methods: Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization.
Strategies to prevent postoperative delirium: a comprehensive evaluation of anesthesia selection and drug intervention.
Front Psychiatry
December 2024
Department of Orthopedics, The Second Hospital of Anhui Medical University, Hefei, China.
Postoperative delirium (POD) represents a common neurological complication encountered predominantly among the elderly cohort undergoing surgical intervention for hip fractures. This phenomenon, particularly commonplace in geriatric populations with heightened preoperative risk profiles, pronounced comorbidities, and later stages of lifespan, poses complex clinical challenges. The impact of perioperative pharmacological interventions and anesthetic strategies on POD's emergence cannot be understated, as it may profoundly affect the length of hospital stays, rehabilitation milestones, and the overall mortality hazard.
View Article and Find Full Text PDFMIBiG 4.0: advancing biosynthetic gene cluster curation through global collaboration.
Nucleic Acids Res
January 2025
Bioinformatics Group, Wageningen University & Research, Droevendaalsesteeg 1, 6708 PB Wageningen, The Netherlands.
Specialized or secondary metabolites are small molecules of biological origin, often showing potent biological activities with applications in agriculture, engineering and medicine. Usually, the biosynthesis of these natural products is governed by sets of co-regulated and physically clustered genes known as biosynthetic gene clusters (BGCs). To share information about BGCs in a standardized and machine-readable way, the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard and repository was initiated in 2015.
View Article and Find Full Text PDFMedication reconciliation and seamless care led by clinical pharmacists in Slovenia: a national reimbursed program ensuring safe and effective transition of care.
Int J Clin Pharm
December 2024
Faculty of Medicine Maribor, University of Maribor, Maribor, Slovenia.
Background: Medication errors frequently happen during patients' transitions between different healthcare settings. Medication reconciliation, provided by various healthcare specialists, could help reduce these errors. However, clinical pharmacists do not lead this service nationally in most countries.
View Article and Find Full Text PDFProtocol for handling and using SOD1 mice for amyotrophic lateral sclerosis pre-clinical studies.
STAR Protoc
December 2024
Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, P.O.B. 653, Beer Sheva 84105, Israel; The School of Brain Sciences and Cognition, Ben-Gurion University of the Negev, P.O.B. 653, Beer Sheva 84105, Israel. Electronic address:
Amyotrophic lateral sclerosis (ALS) is a devastating progressive neurodegenerative disease that has no proper cure. Pre-clinical studies on ALS mice are an essential milestone toward clinical trials. Here, we present a protocol for handling and using SOD1 mice for ALS pre-clinical studies.
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