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Digital Representation of Patients as Medical Digital Twins: Data-Centric Viewpoint.
JMIR Med Inform
January 2025
INSERM U1064, CR2TI - Center for Research in Transplantation and Translational Immunology, Nantes University, 30 Bd Jean Monnet, Nantes, 44093, France, 33 2 40 08 74 10.
Precision medicine involves a paradigm shift toward personalized data-driven clinical decisions. The concept of a medical "digital twin" has recently become popular to designate digital representations of patients as a support for a wide range of data science applications. However, the concept is ambiguous when it comes to practical implementations.
View Article and Find Full Text PDFEvaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFTurkish validity and reliability study of the psychological food involvement scale: PFIS-TR.
BMC Psychol
January 2025
Department of Nutrition and Dietetics, Faculty of Health Science, Istanbul Beykent University, Istanbul, Turkey.
Background: This study aimed to adapt the Psychological Food Involvement Scale (PFIS) to Turkish culture and test its validity and reliability. The PFIS measures individuals' psychological, emotional, and social relationships with food, which significantly impact eating behaviors and health.
Methods: The study was conducted with 478 participants aged 18-65.
Trehalose enhances macrophage autophagy to promote myelin debris clearance after spinal cord injury.
Cell Biosci
January 2025
Department of Orthopaedics, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, China.
Background: Myelin-laden foamy macrophages accumulate extensively in the lesion epicenter, exhibiting characteristics of autophagolysosomal dysfunction, which leads to prolonged inflammatory responses after spinal cord injury (SCI). Trehalose, known for its neuroprotective properties as an autophagy inducer, has yet to be fully explored for its potential to mitigate foamy macrophage formation and exert therapeutic effects in the context of SCI.
Results: We observed that trehalose significantly enhances macrophage phagocytosis and clearance of myelin in a dose-dependent manner in vitro.
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