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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.
Extracellular matrix stiffness regulates colorectal cancer progression via HSF4.
J Exp Clin Cancer Res
January 2025
Department of General Surgery, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China.
Background: Colorectal cancer (CRC) has high incidence and mortality rates, with severe prognoses during invasion and metastasis stages. Despite advancements in diagnostic and therapeutic technologies, the impact of the tumour microenvironment, particularly extracellular matrix (ECM) stiffness, on CRC progression and metastasis is not fully understood.
Methods: This study included 107 CRC patients.
From micro to macro, nanotechnology demystifies acute pancreatitis: a new generation of treatment options emerges.
J Nanobiotechnology
January 2025
Department of Gastroenterology, Shanghai Institute of Pancreatic Diseases, National Key Laboratory of Immunity and Inflammation, Changhai Hospital, Naval Medical University, Shanghai, 200433, China.
Acute pancreatitis (AP) is a disease characterized by an acute inflammatory response in the pancreas. This is caused by the abnormal activation of pancreatic enzymes by a variety of etiologic factors, which results in a localized inflammatory response. The symptoms of this disease include abdominal pain, nausea and vomiting and fever.
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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