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A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
Orphanet J Rare Dis
January 2025
Internal Medicine IV, Department of Gastroenterology, University Hospital Heidelberg, INF 410, Heidelberg, 69120, Germany.
Background & Aim: Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.
Methods: Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis.
An Unusual Presentation of Cutaneous Bullous Lupus.
Cureus
November 2024
Rheumatology, Cooper University Health Care, Camden, USA.
Drug-induced lupus erythematosus (DILE) is an autoimmune reaction that results in symptoms of polyarthralgia, fever, and cutaneous lesions and other manifestations. Several drugs have been documented to cause this disease, including procainamide, isoniazid, methyldopa, penicillamine, and hydralazine. Systemic lupus erythematosus (SLE) manifestations often occur after the patient has been taking the drug without complications for months to years.
View Article and Find Full Text PDFEarly Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.
Case Reports Hepatol
November 2024
Paediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis challenging.
View Article and Find Full Text PDFRenally Excretable Molybdenum Disulfide Nanoparticles as Contrast Agents for Dual-Energy Mammography and Computed Tomography.
Bioconjug Chem
December 2024
Department of Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States.
Article Synopsis
- Contrast-enhanced dual-energy mammography (DEM) can detect tumors better in dense breast tissue than standard mammography, but traditional iodine-based contrast agents have significant limitations, including use restrictions and high doses.* -
- The study introduces ultrasmall molybdenum disulfide nanoparticles (MoS NPs) that are biocompatible and produce higher image contrast in DEM compared to conventional contrast agents like iopamidol.* -
- MoS NPs also show rapid elimination from the body, reducing concerns about long-term toxicity, which suggests they could effectively serve as dual-modality contrast agents for both DEM and CT imaging.*
[ Decoction improves spermatogenesis and promotes spermatogenic cell proliferation in Wilson disease TX mice by activating testicular ERK signaling pathway].
Nan Fang Yi Ke Da Xue Xue Bao
November 2024
Brain Disease Center, First Affiliated Hospital of Anhui University of Traditional Chinese Medicine, Hefei 230031, China.
Objective: To investigate the therapeutic mechanism of Decoction (GDBSD) for improving reproductive disorders in male mouse models of Wilson disease (WD).
Methods: Sixty male homozygous TX mice were randomized equally into 4 groups and treated with daily gavage of saline (WD model group), penicillamine (0.09 g/kg), or GDBSD (0.
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