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Wilson's disease in two siblings from Ecuador: Two case reports.
World J Clin Cases
January 2025
Department of Radiology, Hospital de Especialidades Eugenio Espejo, Quito 170136, Pichincha, Ecuador.
Background: Wilson's disease (WD) is a rare metabolic disorder of copper accumulation in organs such as liver, brain, and cornea. Diagnoses and treatments are challenging in settings, where advanced diagnostic tests are unavailable, copper chelating agents are frequently scarce, healthcare professionals lack disease awareness, and medical follow-ups are limited. Prompt diagnoses and treatments help prevent complications, improve patients' quality of life, and ensure a normal life expectancy.
View Article and Find Full Text PDFA 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.
Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.
Pediatr Dev Pathol
January 2025
Prism Pediatric Gastro, Ahmedabad, Gujarat, India.
Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female.
View Article and Find Full Text PDFNative mercury, hydrargyrism and the birth of occupational toxicology in Colombia.
Environ Geochem Health
January 2025
Public Health Department, School of Medicine, Universidad Industrial de Santander, Bucaramanga, Colombia.
The "La Esperanza" native mercury mine in Aranzazu, (Caldas, Colombia) was active from 1948 until 1975. Before the final closure of the mine, the company began using dimercaprol (BAL, British Anti-Lewisite) and penicillamine for the treatment of hydrargyrism among workers. Mercury poisoning among miners was frequent due to precarious working conditions, inadequate technology, difficult terrain, and the high toxicity of native mercury within the mine.
View Article and Find Full Text PDFNitric Oxide-Releasing Nanoscale Metal-Organic Layer Overcomes Hypoxia and Reactive Oxygen Species Diffusion Barriers to Enhance Cancer Radiotherapy.
Adv Sci (Weinh)
January 2025
Department of Chemistry, The University of Chicago, Chicago, IL, 60637, USA.
Hafnium (Hf)-based nanoscale metal-organic layers (MOLs) enhance radiotherapeutic effects of tissue-penetrating X-rays via a unique radiotherapy-radiodynamic therapy (RT-RDT) process through efficient generation of hydroxy radical (RT) and singlet oxygen (RDT). However, their radiotherapeutic efficacy is limited by hypoxia in deep-seated tumors and short half-lives of reactive oxygen species (ROS). Herein the conjugation of a nitric oxide (NO) donor, S-nitroso-N-acetyl-DL-penicillamine (SNAP), to the Hf secondary building units (SBUs) of Hf-5,5'-di-p-benzoatoporphyrin MOL is reported to afford SNAP/MOL for enhanced cancer radiotherapy.
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