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Evaluation 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 PDFTechnical aspects of neuraxial analgesia during labor and maternity care: an updated overview.
J Anesth Analg Crit Care
January 2025
Department of Neurosciences, Reproductive and Odontostomatological Sciences, University of Naples "Federico II", via Sergio Pansini 5, Naples, 80100, Italy.
Labor analgesia is increasingly widespread throughout the world with a rate ranging from 10 to 60%. The benefits regarding clinical and non-clinical maternal-fetal outcomes are currently discussed in international scientific literature. Even stage of labor needs a different and appropriate approach to control the pain; however, different techniques are reported in literature.
View Article and Find Full Text PDFProspective multi-centre analysis of rural trauma team development training for medical trainees and traffic law enforcement professionals in Uganda: an interrupted time series study.
BMC Med Educ
January 2025
Heidelberg Institute of Global Health (HIGH), University Hospital and University of Heidelberg, Heidelberg, Germany.
Background: Research shows that trauma team formation could potentially improve effectiveness of injury care in rural settings. The aim of this study was to determine the feasibility of rural trauma team training amongst medical trainees and traffic law enforcement professionals in Uganda.
Methods: Prospective multi-centre interrupted time series analysis of an interventional training based on the 4th edition of rural trauma team development course of the American College of Surgeons.
Alpha/beta values in pediatric medulloblastoma: implications for tailored approaches in radiation oncology.
Radiat Oncol
January 2025
Department of Radiotherapy and Radiooncology, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Dusseldorf, Germany.
Background: Medulloblastoma is the most common malignant pediatric brain tumor, typically treated with normofractionated craniospinal irradiation (CSI) with an additional boost over about 6 weeks in children older than 3 years. This study investigates the sensitivity of pediatric medulloblastoma cell lines to different radiation fractionation schedules. While extensively studied in adult tumors, these ratios remain unknown in pediatric cases due to the rarity of the disease.
View Article and Find Full Text PDFThe PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
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