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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 PDFSilicosis 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 PDFElucidating the role of FBXW4 in osteoporosis: integrating bioinformatics and machine learning for advanced insight.
BMC Pharmacol Toxicol
January 2025
Yanzhou District People's Hospital, Jining, Shandong, China.
Background: Osteoporosis (OP), often termed the "silent epidemic," poses a substantial public health burden. Emerging insights into the molecular functions of FBXW4 have spurred interest in its potential roles across various diseases.
Methods: This study explored FBXW4 by integrating DEGs from GEO datasets GSE2208, GSE7158, GSE56815, and GSE35956 with immune-related gene compilations from the ImmPort repository.
Modeling and simulation of distribution and drug resistance of major pathogens in patients with respiratory system infections.
BMC Infect Dis
January 2025
Department of Respiratory Medicine, Anting Hospital of Jiading District, 1060 Hejing Road, Anting Town, Jiading District, Shanghai, 201805, China.
Background: Respiratory tract infections (RTIs) are one of the leading causes of morbidity and mortality worldwide. The increase in antimicrobial resistance in respiratory pathogens poses a major challenge to the effective management of these infections.
Objective: To investigate the distribution of major pathogens of RTIs and their antimicrobial resistance patterns in a tertiary care hospital and to develop a mathematical model to explore the relationship between pathogen distribution and antimicrobial resistance.
Langerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up.
BMC Med Imaging
January 2025
Department of Ultrasound Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. However, systematic elucidation of sonographic features of LCH and treatment related follow-up are relatively few, resulting in overall underestimation of the clinical value of ultrasound in diagnosing and monitoring LCH.
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