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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.
Preliminary effectiveness of social prescription and virtual patient information in increasing tertiary prevention among cancer patients (ESPRIT): protocol for a single-centre, randomised controlled pilot trial.
BMJ Open
January 2025
Department of Epidemiology and Preventive Medicine, Medical Sociology, University of Regensburg, Regensburg, Bavaria, Germany.
Introduction: Tertiary prevention through physical activity and psychosocial support can positively impact patient outcomes, such as physical function and quality of life (QoL). However, more research is required on the effectiveness of strategies designed to increase the uptake of tertiary prevention programmes among cancer patients. Here, we present the protocol for a single-centre, randomised controlled pilot trial testing the preliminary effectiveness of social prescription and virtual patient information in increasing tertiary prevention among cancer patients and support persons (SPs) (ESPRIT "ffectiveness of a ocial escription and virtual patient nformation in increasing ertiary prevention" pilot trial).
View Article and Find Full Text PDFInvestigating the effectiveness of ailurophobia treatment using virtual reality technique compared to metacognitive therapy: a randomized clinical trial.
BMC Psychol
January 2025
Psychiatry and Behavioral Sciences Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Background: Fear of cats as a specific phobia disorder can cause disruption in some aspects of the affected people's lives. On the other hand, due to the fact that the two approaches of metacognitive treatment and behavioral therapy methods such as virtual reality are considered common treatment methods in anxiety disorders; It seems that it is necessary to examine the two approaches based on the effectiveness, durability and cost-benefit issue to present and introduce to therapists.
Methods: The present study was a Randomized Clinical Trial study that was conducted on 28 patients with Ailurophobia.
Improving capacity for advanced training in obstetric surgery: evaluation of a blended learning approach.
BMC Med Educ
January 2025
Emergency Obstetric Care and Quality of Care Unit, Liverpool School of Tropical Medicine (LSTM), Liverpool, UK.
Background: Significant differences in outcomes for mothers and babies following obstetric surgical interventions between low- and middle-income countries and high-income settings have demonstrated a need for improvements in quality of care and training of obstetric surgical and anaesthetic providers. To address this, a five-day face-to-face training intervention was developed. When roll-out was disrupted by the COVID-19 pandemic, the course was redesigned for delivery by blended learning.
View Article and Find Full Text PDFGame-based telerehabilitation in neurological disorders: a systematic review of features, opportunities and challenges.
Disabil Rehabil Assist Technol
January 2025
Department of Medical Informatics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
This study explores the integration of telerehabilitation, virtual reality, and serious games technologies in addressing physical disabilities. Specifically, it focuses on game-based telerehabilitation for patients with stroke, Parkinson's disease, and multiple sclerosis undergoing home-based rehabilitation. Utilising the PICO approach, a search in Scopus and PubMed until February 21st, 2024, identified 31 relevant English articles out of 258 initially considered.
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