Results 41 to 50 of about 5,188,381 (253)

Unilateral K-F ring in Wilson’s disease

GMS Ophthalmology Cases, 2023
Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease.
Hegde, Shruti P., Kumar, Sakthivel Senthil   +1 more
doaj   +1 more source

A Case of Wilson’s Disease Mimicking Malignancy

, 2014
Wilson’s disease is a rare autosomal recessive inherited disorder of copper metabolism that causes various degrees of hepatic and neuropsychiatric symptoms. The condition is due to mutations in the ATP7B gene localized to arm 13q.
Mehmet Aliustaoğlu, Akın, Ahmet, Şahinoğlu-Keşkek, Nedime, Şakir Özgür Keşkek, Aliustaoğlu, Mehmet, Nedime Şahinoğlu-Keşkek, Ahmet Akın, Özgür Keşkek, Şakir   +7 more
core   +1 more source

Correlation between neurological impairment and liver status in Wilson’s disease [PDF]

, 2021
Background: The most widely recognized aspect of the neuro-hepatic relation is hepatic encephalopathy, in which neurotransmission in the brain is altered.
Cumpătă, Veronica, Țurcanu, Adela, Tcaciuc, Eugen, Sacară, Victoria, Lisnic, Vitalie   +4 more
core   +1 more source

Neuropsychiatric disorders in Wilson’s disease: literature review

Neurologijos seminarai, 2023
Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs.
S. Galnaitytė, A. Musneckis
doaj   +3 more sources

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis

JHEP Reports
Background & Aims: Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in various organs, primarily the liver and brain. Standard assessment of copper metabolism includes total serum copper, serum ceruloplasmin,
Nouzha Djebrani-Oussedik, Clément Desjardins, Mickaël Alexandre Obadia, Djamila Rahli, Corinne Collet, France Woimant, Joël Poupon, Dominique Debray, Aurélia Poujois   +8 more
doaj   +1 more source

Construction of diagnostic prediction model for Wilson's disease

Frontiers in Surgery, 2023
BackgroundWilson's disease, also known as hepatolenticular degeneration, is a rare human autosomal recessive inherited disorder of copper metabolism. The clinical manifestations are diverse, and the diagnosis and treatment are often delayed.
Yao Wang, Yao Wang, Yulian Li, Linting Xun, Zhengji Song   +4 more
doaj   +1 more source

Diagnosing Wilson’s Disease under the sword of Damocles [PDF]

, 2020
Introduction. Antos et al. [7] have reported a case of suspected uniparental disomy leading to an initial erroneous diagnosis of Wilson’s Disease on the basis of genetic testing.
Pfeiffer, Ronald F.; Oregon Health and Science University (OHSU), Portland, Oregon, United States, Ronald F. Pfeiffer   +1 more
core   +1 more source

Extracellular vesicle lipidomics liquid biopsy reveals systemic and tumor microenvironment metabolic reprogramming in ovarian cancer

Molecular Oncology, EarlyView.
Extracellular vesicle (EV) lipidomic profiling of plasma and ascites from patients with high‐grade serous ovarian cancer and of ovarian cancer cell lines reveals enrichment of triglycerides (TGs), diacylglycerols (DGs), phosphatidylcholine (PCs), sphingomyelins (SMs), reflecting tumor metabolic reprogramming.
Shikha Rani, Dominic Guanzon, Andrew Lai, Katherin Scholz‐Romero, Sarah Reed, Edita Ritmejeryte, Rohan Lourie, Naven Chetty, Kaltin Ferguson, Carlos Salomon   +9 more
wiley   +1 more source

Cuproptosis – copper-induced cell death – and Wilson’s disease

, 2023
This presentation outlines the mechanism of cuproptosis – a regulated cell death induced by copper(I) and the implications of this recently formulated (2022) biochemical sequence for the pathogenesis of Wilson’s disease.
Rupert Purchase (16039694)
core   +1 more source

Intrahepatic Cholangiocarcinoma in Wilson’s Disease: 2 Case Reports

GE: Portuguese Journal of Gastroenterology
Introduction: Wilson’s disease is a rare autosomal recessive inherited disorder of human copper metabolism. The spectrum of clinical manifestations of liver disease ranges from asymptomatic to cirrhosis and acute liver failure.
Joana Reis Aguiar, Helena Pessegueiro Miranda, Cláudia Pereira   +2 more
doaj   +1 more source