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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 PDFEvaluation of a peer support group programme for vulnerable host population and refugees living with diabetes and/or hypertension in Lebanon: a before-after study.
Confl Health
January 2025
London School of Hygiene and Tropical Medicine, Department of Non-Communicable Diseases Epidemiology, Keppel street, London, WC1E 7HT, UK.
Background: Non-communicable diseases (NCDs) are the leading cause of death globally, and many humanitarian crises occur in countries with high NCD burdens. Peer support is a promising approach to improve NCD care in these settings. However, evidence on peer support for people living with NCDs in humanitarian settings is limited.
View Article and Find Full Text PDFEZH2 inhibition induces pyroptosis via RHA-mediated S100A9 overexpression in myelodysplastic syndromes.
Exp Hematol Oncol
January 2025
Department of Hematology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Myelodysplastic Syndromes (MDS) represent a group of heterogeneous myeloid clonal diseases derived from aberrant hematopoietic stem/progenitor cells. Enhancer of zeste homolog 2 (EZH2) is an important regulator in gene expression through methyltransferase-dependent or methyltransferase-independent mechanisms. Herein, we found EZH2 inhibition led to MDS cell pyroptosis through RNA Helicase A (RHA) down-regulation induced overexpression of S100A9, a key regulator of inflammasome activation and pyroptosis.
View Article and Find Full Text PDFA novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFAlpha/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.
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