Results 61 to 70 of about 9,381 (248)

Intractable Rickets as Presenting Feature of Wilson's Disease

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2004
Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilson's disease is a relatively rare cause.
A Bahrami-Ahmadi, J Shakeri, A Haghighi, MB owlia   +3 more
doaj  

Late-Onset Wilson's Disease

Frontiers in Medicine, 2020
Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological.
Miroslav Žigrai, Milan Vyskočil, Andrea Tóthová, Peter Vereš, Peter Bluska, Peter Valkovič   +5 more
doaj   +1 more source

[Wilson's disease].

La Revue du praticien, 2006
Wilson's disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene chromosome 13. The discovery of the gene allowed a better understanding of cytosolic copper trafficking its relationship with ceruloplasmin synthesis. Symptomatic patients may present with hepatic, neurologic or psychiatric forms.
Duclos-Vallée, Jean-Charles, Ichaï, Philippe, Chapuis, Philippe, Misrahi, Micheline, Woimant, France   +4 more
openaire   +2 more sources

Protein‐Driven Copper Redox Regulation: Uncovering the Role of Disulphide Bonds and Allosteric Modulation

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, Chang Liu, Xue Wang, Hegne Pupart, Xun Sun, Jan Gui‐Hyon Dreiser, Peep Palumaa, Qinghua Liao, Matthias Krack, Jinghui Luo   +9 more
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Overlap of Wilson’s disease and autoimmune hepatitis: a case report

Zdorovʹe Rebenka, 2019
The article presents review of literature and observation of the clinical case of Wilson’s disease combined with autoimmune hepatitis in an adolescent. The questions of the diagnosis of autoimmune hepatitis and Wilson’s disease in children are considered
N.Yu. Zavhorodnia, O.Yu. Lukianenko, N.O. Zhigir   +2 more
doaj   +1 more source

Nicotinamide riboside and pterostilbene reduces markers of hepatic inflammation in NAFLD: A double‐blind, placebo‐controlled clinical trial

Hepatology, EarlyView., 2022
NRPT 1X reduces ALT and ceramide 14:0 in 65% of subjects as compared to only 28% in the placebo group. Abstract Background and Aims The prevalence of NAFLD is increasing globally and on a path to becoming the most frequent cause of chronic liver disease. Strategies for the prevention and treatment of NAFLD are urgently needed.
Ryan W. Dellinger, Holly E. Holmes, Tina Hu‐Seliger, Rodney W. Butt, Stephen A. Harrison, Dariush Mozaffarian, Oliver Chen, Leonard Guarente   +7 more
wiley   +1 more source

Wilson’s disease: A Comprehensive Review of Genetics, Pathophysiology, Clinical Symptoms, Diagnostic Techniques and Current Treatment

Quality in Sport
Introduction: Wilson's disease (WD) is a genetic disease, inherited in an autosomal recessive manner, caused by a mutation in the ATP7B gene, which results in impaired excretion of copper in the bile.
Natalia Wdowiak, Martyna Choinka, Agata Konopka, Zuzanna Szczepaniak, Kinga Adamska   +4 more
doaj   +1 more source

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, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior   +5 more
wiley   +1 more source

Wilson’s Disease. Onset and Complex Diagnosis: Clinical Case

Вопросы современной педиатрии
Background. The low prevalence of Wilson’s disease, diversity of clinical signs, long latent course, inheritance features make it difficult to diagnose and require multidisciplinary approach from doctors. Clinical case description. This article describes
Elena S. Zastelo, Elvira N. Fedulova, Anastasiya N. Gabrikevich, Tatiana V. Skochilova, Anatoly I. Khavkin   +4 more
doaj   +1 more source