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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
View Article and Find Full Text PDFOverview of Peptides and Their Potential Roles in Skin Health and Beauty.
J Pept Sci
February 2025
Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Taikang Center for Life and Medical Sciences, Wuhan University, Wuhan, China.
Peptides are molecules that consist of at least two amino acids linked by peptide bonds. The difference between peptides and proteins is primarily based on size and structure. Typically, oligopeptides consist of fewer than about 10-20 amino acids, and polypeptides consist of more than 20 amino acids, whereas proteins usually are made up more than 50 amino acids and often contain multiple peptide subunits as stated in the International Union of Pure and Applied Chemistry rules.
View Article and Find Full Text PDFHuman Growth Hormone (GH) use by Athletes with Short Stature without GH Deficiency: Therapeutic Use Exemptions.
J Clin Endocrinol Metab
January 2025
Division of Diabetes and Endocrinology, Department of Pediatrics, University of Virginia, Charlottesville, VA.
Organized sports are governed by specific rules which aim to create or preserve fair play. An unfair advantage can be obtained by the use of specific substances or methods, also referred to as doping. The World Anti-Doping Agency (WADA) leads the international doping-free sport movement and annually publishes the List of Prohibited Substances and Methods (List), that is used by most sport federations and organizations around the world.
View Article and Find Full Text PDFA Framework for Using Cost-effectiveness Analysis to Support Pricing and Reimbursement Decisions for New Pharmaceuticals in a Context of Evolving Treatments, Prices, and Evidence.
Pharmacoeconomics
December 2024
Centre for Health Economics, University of York, York, UK.
Current approaches to the pricing and funding of new pharmaceuticals often focus on a one-time decision about a product for each clinical indication. This can result in multiple options being available to health systems without a clear signal about how to prioritise between them. This runs the risk that, as available treatments, evidence, and drug prices evolve, clinical and patient choices may not be aligned with the objective of allocating resources to promote population health.
View Article and Find Full Text PDFThe necessity of validity diagnostics when drawing causal inferences from observational data: lessons from a multi-database evaluation of the risk of non-infectious uveitis among patients exposed to Remicade.
BMC Med Res Methodol
December 2024
Janssen Research & Development LLC, Global Epidemiology Organization, Raritan, NJ, USA.
Background: Autoimmune disorders have primary manifestations such as joint pain and bowel inflammation but can also have secondary manifestations such as non-infectious uveitis (NIU). A regulatory health authority raised concerns after receiving spontaneous reports for NIU following exposure to Remicade, a biologic therapy with multiple indications for which alternative therapies are available. In assessment of this clinical question, we applied validity diagnostics to support observational data causal inferences.
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