Results 71 to 80 of about 187,102 (250)
Annals of Neurology, EarlyView.Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw +13 more
wiley +1 more source
Angewandte Chemie International Edition, EarlyView.Copper binding triggers structural changes that expose a reactive disulphide bridge, enabling intrinsic Cu(II) reduction in folded proteins. SAXS, XAS, and QM/MM simulations reveal how globular proteins such as HSA and SOD1 employ disulphide‐mediated dynamics to modulate site accessibility and control copper redox chemistry.
Rebecca Sternke‐Hoffmann +9 more
wiley +1 more source
Wilson Disease Presenting as Isolated Dysarthria in a Paediatric Patient: A Rare Case Report
Journal of Clinical and Diagnostic ResearchWilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. It involves the liver, brain, eyes, blood, kidneys, and endocrine glands. The usual manifestations are hepatic (approximately 40%), neurological (approximately 35%),
Hunny Verma +4 more
doaj +1 more source
Penicillamine-Induced Signs of Wilson Disease
Pediatric Neurology Briefs, 1997 A 9-year-old boy with asymptomatic Wilson disease who developed neurologic symptoms after treatment with penicillamine is reported from the Department of Pediatrics, Universita Federico II, Naples, Italy.
J Gordon Millichap
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Journal of Neurology, Neurosurgery & Psychiatry, 1997 In Kinnier Wilson’s textbook,1 he writes about the disease that bears his name: “My monograph of 1912 described a disease unknown to the medical profession at that time”. While summarising the essential features he emphasises the familial but not congenital nature of the illness, which lasted a few months in acute cases, many years in chronic cases ...
openaire +2 more sources
Hepatology, EarlyView., 2022 Graphical abstract summarizing the study design, main results and key findings Abstract Background and Aims Fatty liver disease (FLD) has been associated with excess mortality. Screening for hepatic steatosis (HS) in patients with metabolic dysfunction is therefore recommended by several guidelines, despite a paucity of evidence on the clinical ...
Laurens A. van Kleef +5 more
wiley +1 more source
Journal of the Formosan Medical Association, 2018 Background/Purpose: This study aimed to investigate the epidemiology, the preference of medication, and the potential outcome of Wilson disease in Taiwan.
Chi-San Tai +5 more
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From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy
The Anatomical Record, EarlyView.Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza +5 more
wiley +1 more source
Postpartum Diagnosed Wilsons Disease
Medicine Science, 2016 Wilsons disease is an autosomal recessive genetic disorder in which defective biliary excretion of copper leads to its accumulation, especially in liver, brain and cornea. Clinical manifestations can vary widely.
Serpil Aydogmus +6 more
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Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs
The Anatomical Record, EarlyView.Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy +3 more
wiley +1 more source