Results 61 to 70 of about 213,728 (218)

Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson’s Disease Rating Scale

BMC Neurology, 2018
Background Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes.
Anna Członkowska, Tomasz Litwin, Karolina Dzieżyc, Michal Karliński, Johan Bring, Carl Bjartmar   +5 more
doaj   +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

Good response with zinc acetate monotherapy in an adolescent affected by severe Wilson disease

La Pediatria Medica e Chirurgica, 2012
We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia.
M.G. Marazzi, S. Giardino, C. Dufour, M. Serafino, D. Sperlì, R. Giacchino   +5 more
doaj   +1 more source

Community as the catalyst: A mixed‐methods evaluation of a promotora‐led wellness intervention to address mental health inequities in latine communities

American Journal of Community Psychology, EarlyView.
Abstract Latine communities face significant health and mental health inequities, which were exacerbated by the coronavirus disease 2019 (COVID‐19) pandemic. Structural barriers, including economic factors and a lack of culturally responsive care, prevent these populations from accessing necessary treatment. This study evaluates the implementation of a
Jasmín D. Llamas, Lucila Ramos‐Sanchez, Sol Caselles, Cristina Leal, Jennifer Saldana Luna, Myriam Bartz, Emma Stecher   +6 more
wiley   +1 more source

Identification of age-specific urinary metabolic biomarkers in Wilson disease using machine learning: a comparative study of ensemble tree models

Open Medicine
The diagnosis of Wilson disease (WD) is complicated by heterogeneous clinical phenotypes and inadequate performance of routine biomarkers. This study sought to screen age-specific urinary metabolic biomarkers to assist WD diagnosis via ensemble tree ...
Huang Shuxia, Song Yuguo
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

Ring and flower in the eye – An incidental finding of Wilson disease in a case of diabetic retinopathy: A case report

Indian Journal of Ophthalmology. Case Reports
This is to report a rare case of Wilson disease (WD) with Kayser–Fleischer (KF) ring with sunflower cataract along with diabetic retinopathy. A 43-year-old male patient presented to the comprehensive clinic with a chief complaint of diminution of vision ...
Daisy R Das, Ankita Singh, Balmukund Agarwal, Jessica Basumatary   +3 more
doaj   +1 more source