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Celiac Disease: A Transitional Point of View.
Nutrients
January 2025
Clinical Immunology Outpatient Clinic, Division of Internal Medicine, Department of Advanced Medical and Surgical Sciences, "Luigi Vanvitelli" University of Campania, 80131 Naples, Italy.
Celiac disease (CeD) is a chronic, lifelong, multifactorial, polygenic, and autoimmune disorder, characteristically triggered by exposure to the exogenous factor "gluten" in genetically predisposed individuals, with resulting duodenal inflammation and enteropathy, as well as heterogeneous multisystemic and extraintestinal manifestations. The immunopathogenesis of CeD is complex, favored by a peculiar human leukocyte antigen (HLA) genetic predisposition, leading to gluten presentation by antigen-presenting cells to CD4+ T helper (Th) cells, T cell-B cell interactions, and production of specific antibodies, resulting in the immune-mediated killing of enterocytes and, macroscopically, in duodenal inflammation. Here, the most relevant correlations between cellular and molecular aspects and clinical manifestations of this complex disease are reviewed, with final considerations on nutritional aspects for disease management.
View Article and Find Full Text PDFMatters of the Heart: Cardiotoxicity Related to Target Therapy in Oncogene-Addicted Non-Small Cell Lung Cancer.
Int J Mol Sci
January 2025
Department of Medical Oncology, Centro di Riferimento Oncologico di Aviano (CRO), Istituto di Ricovero e Cura a Carattere Scientifico, 33081 Aviano, Italy.
The treatment of Non Small Cell Lung Cancer (NSCLC) has been revolutionised by the introduction of targeted therapies. With the improvement of response and frequently of overall survival, however, a whole new set of adverse events emerged. In fact, due to the peculiar mechanism of action of each one of the tyrosine kinase inhibitors and other targeted therapies, every drug has its own specific safety profile.
View Article and Find Full Text PDFIdentification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry disease is a hereditary, progressive, multisystemic lysosomal storage disorder caused by a functional deficiency of the enzyme α-galactosidase A (α-GalA). This defect is due to mutations in the gene, located in the long arm of the X chromosome (Xq21-22). Functional deficiency of the α-GalA enzyme leads to reduced degradation and accumulation of its substrates, predominantly globotriaosylceramide (Gb3), which accumulate in the lysosomes of numerous cell types, giving rise to the symptomatology.
View Article and Find Full Text PDFMeropenem Continuous Infusion in a Septic Patient with Periprosthetic Infection and End-Stage Renal Disease Undergoing Prolonged Intermittent Renal Replacement Therapy.
Medicina (Kaunas)
January 2025
Department of Anesthesiology and Intensive Care, Astana Medical University, Astana 010000, Kazakhstan.
This case report highlights the use of continuous infusion of meropenem in a 42-year-old septic female patient with periprosthetic infection and end-stage renal disease receiving prolonged intermittent renal replacement therapy (PIRRT). Antibiotic infusion in patients receiving renal replacement therapy has its own peculiarities. There are many studies on the optimal dosing regimen for meropenem in renal dysfunction, but studies on the optimal infusion duration in these patients are limited.
View Article and Find Full Text PDF18F-Fluorodeoxyglucose Uptake in PDGFRA-Mutant Gastrointestinal Stromal Tumors.
JAMA Netw Open
January 2025
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Importance: The D842V platelet-derived growth factor receptor α (PDGFRA) mutation identifies a molecular subgroup of gastrointestinal stromal tumors (GISTs), primarily resistant to standard tyrosine kinase inhibitors and with an overall more indolent behavior. Although functional imaging with 18F-fluorodeoxyglucose-labeled positron emission tomography ([18F]FDG-PET) plays a proven role in GISTs, especially in early assessment of tumor response, less is known about [18F]FDG uptake according to the GIST molecular subtypes.
Objective: To evaluate the degree of [18F]FDG uptake in PDGFRA-mutant GISTs and better define the role of functional imaging in this rare and peculiar subset of GISTs.
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