Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF01231309 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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 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.
View Article and Find Full Text PDFThe parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson's model: a qualitative study.
BMC Nurs
January 2025
Department of Orthopedic, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Objective: This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies.
Methods: A phenomenological study involving semi-structured interviews with 20 OI caregivers at a tertiary centre for children from March to August 2021 was analyzed thematically, following Anderson's model.
Results: We identified eight themes in the data: 1)Regional disparities of OI management, 2)Big economic burden, 3)High-risk population, 4)Lack of health education, 5)Multiple treatments,6)Strict treatment indications,7)Disappointing therapeutic outcomes,8)Effective or ineffective treatment results.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!