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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 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.
Silicosis prevalence and related issues in India: a scoping review.
J Occup Med Toxicol
January 2025
Indian Council of Medical Research-National Institute for Implementation Research on Non-Communicable Diseases, Jodhpur, 342005, India.
Background: Silicosis remains a major occupational health challenge in India. This review systematically examines the prevalence, risk factors, regional differences, and diagnostic tools specific to India's high-risk industries. Additionally, it assesses policy gaps and offers insights from diverse clinical and qualitative studies, aiming to inform targeted public health interventions and support the development of effective occupational health policies.
View Article and Find Full Text PDFPharmacological pain management in patients with rheumatoid arthritis: a narrative literature review.
BMC Med
January 2025
Primary Care Centre Versus Arthritis, School of Medicine, Keele University, Keele, UK.
Background: Pain is a major challenge for patients with rheumatoid arthritis (RA), with many people suffering chronic pain. Current RA management guidelines focus on assessing and reducing disease activity using disease-modifying anti-rheumatic drugs (DMARDs). Consequently, pain care is often suboptimal, with growing evidence that analgesics are widely prescribed to patients with RA, despite potential toxicities and limited evidence for efficacy.
View Article and Find Full Text PDFThe triglyceride-glucose index and its obesity-related derivatives as predictors of all-cause and cardiovascular mortality in hypertensive patients: insights from NHANES data with machine learning analysis.
Cardiovasc Diabetol
January 2025
Department of Cardiology, The Second Affiliated Hospital, Wenzhou Medical University, Wenzhou, 325027, Zhejiang, People's Republic of China.
Background: Hypertension (HTN) is a global public health concern and a major risk factor for cardiovascular disease (CVD) and mortality. Insulin resistance (IR) plays a crucial role in HTN-related metabolic dysfunction, but its assessment remains challenging. The triglyceride-glucose (TyG) index and its derivatives (TyG-BMI, TyG-WC, and TyG-WHtR) have emerged as reliable IR markers.
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