Results 71 to 80 of about 11,342 (257)

Wilson’s disease in a child: a difficult path to diagnosis (clinical case)

Zdorovʹe Rebenka
The article presents data on the etiology, pathogenesis and clinical manifestations of Wilson’s disease, and also describes a diagnostically complex clinical case and own observation of a patient with Wilson’s disease. Wilson’s disease is a chronic liver
O.M. Вabadzhanian, O.V. Shutova, N.V. Pavlenko, I.G. Solodovnychenko, K.V. Voloshyn   +4 more
doaj   +1 more source

GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

, 2020
A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system.
Marta Dats-Opoka, Dats-Opoka, Marta, Yaryna Boyko, Haiboniuk, Ivanna, Halyna Makukh, Igor Kiselyk, Makukh, Halyna, Boyko, Yaryna, Kiselyk, Igor, Ivanna Haiboniuk   +9 more
core   +1 more source

Comparative assessment of clinical rating scales in Wilson’s disease [PDF]

, 2017
Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism resulting in multifaceted neurological, hepatic, and psychiatric symptoms. The objective of the study was to comparatively assess two clinical rating scales for WD,
Pfeiffenberger, Jan, Stremmel, Wolfgang, Jan Pfeiffenberger, Gotthardt, Daniel N., Gröner, Jan B., Karl Heinz Weiss, Weiss, Karl Heinz, Daniel N. Gotthardt, Volpert, Hanna M., Weiler, Markus, Schäfer, Mark, Mark Schäfer, Wolfgang Stremmel, Hanna M. Volpert, Markus Weiler, Jan B. Gröner   +15 more
core   +1 more source

Accounting for animal health in efficiency analysis: An application to Swedish dairy farms

American Journal of Agricultural Economics, EarlyView.
Abstract Poor animal health is a central concern in modern livestock production. Despite the necessity to incorporate animal health in efficiency analysis, the theoretical and empirical developments are limited on this subject. This article appropriately characterizes the axiomatic properties of animal health within a production framework.
Frederic Ang, Enoch Owusu‐Sekyere, Karin Alvåsen, Helena Hansson   +3 more
wiley   +1 more source

Negotiating contested spaces and places: Narratives of social suffering and resistance in racialized Cape Town communities

American Journal of Community Psychology, EarlyView.
Abstract This study employs a schizocartographic approach to explore community narratives of space, memory, and violence in Kraaifontein, Cape Town. Through participants' accounts, ordinary places—gardens, shops, blocks, sports grounds, and streets—emerge as ambivalent geographies where trauma, resilience, and belonging intersect.
Guido Veronese, Chiara Fiscone, Ashraf Kagee   +2 more
wiley   +1 more source

Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades

JHEP Reports, 2020
Background & Aims: Acute liver failure as the initial presentation of Wilson’s disease is usually associated with onset in childhood, adolescence or early adulthood.
Samuel Shribman, Gwilym Webb, Rhiannon Taylor, Thomas T. Warner, Adam Duckworth, Alexander Gimson, Achuth Shenoy, William Griffiths   +7 more
doaj   +1 more source

Assessment of neurological symptoms and associated factors in patients with Wilson’s disease in Southwest China

Orphanet Journal of Rare Diseases
Background Wilson’s disease is an inherited genetic disorder of hepatic copper metabolism characterized by hepatic, neurological, and psychiatric manifestations.
Lu Zhang, Jieru Peng, Yao Dong, Qiwen Zhang, Wencheng Long, Yueshan Wang, Zhong Li, Lu Long, Yaxin Li, Qiaoling Jin, Lin Deng, Lin Cai, Dailan Yang, Juan Liao, Chunxia Yang   +14 more
doaj   +1 more source

EASL Clinical Practice Guidelines: Wilson’s disease

, 2012
SummaryThis Clinical Practice Guideline (CPG) has been developed to assist physicians and other healthcare providers in the diagnosis and management of patients with Wilson’s disease.
European Association for the Study of the Liver,
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

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