Results 41 to 50 of about 5,194,122 (262)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini   +12 more
wiley   +1 more source

Wilson's disease

open access: yes, 2019
Wilson's disease: aspects of diagnosis and ...
Rupert Purchase (16039694)
core   +1 more source

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

open access: yesZdorovʹe 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   +4 more
doaj   +1 more source

Plasmapheresis for Fulminant Wilson’s Disease Improves Mental Status and Coagulopathy

open access: yesCase Reports in Hepatology, 2023
Wilson’s disease is a rare genetic condition that affects copper metabolism, resulting in tissue copper accumulation and resultant organ damage. We report a case of a young woman who presents with Wilson’s disease complicated by hemolysis, impaired ...
Quarshie Glover, William Nicholas Rose
doaj   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl   +6 more
wiley   +1 more source

Hepatocellular carcinoma in a non-cirrhotic patient with Wilson's disease [PDF]

open access: yes, 2013
We report the exceptional case of hepatocellular carcinoma in a non-cirrhotic patient, whose Wilson's disease was diagnosed at the unusual age of 58 years. The liver histology revealed macrovesicular steatosis with fibrosis, but no cirrhosis. The disease
Thattil, Raphael   +3 more
core   +2 more sources

Unsupervised Machine Learning Identifies Shared Biomechanical and Clinical Variation in Individuals with Knee Osteoarthritis and High BMI: A Secondary Analysis of the IDEA Trial

open access: yesArthritis Care &Research, Accepted Article.
Objective High body mass index (BMI≥27 kg/m2) and aberrant gait biomechanics are primary risk factors for knee osteoarthritis (KOA), yet the specific loading patterns linked to clinical disease features remain unclear. Unsupervised machine learning (ML) was used to identify vertical ground reaction force (vGRF) waveform modes of variation and ...
Ashley N. Buck   +10 more
wiley   +1 more source

Wilson’s Disease in an Elderly Patient

open access: yesCanadian Journal of Gastroenterology, 1995
A 65-year-old man with Fanconi’s syndrome was investigated for the cause of chronic liver disease. Wilson’s disease was diagnosed based on the detection of bilateral Kayser-Fleischer rings, a low serum ceruloplasmin level, increased urine copper ...
Maziar Badii   +3 more
doaj   +1 more source

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings [PDF]

open access: yesVojnosanitetski Pregled, 2014
Introduction. Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively. We presented a rare atypical case of Wilson's disease with psychotic onset.
Krstić Dragan   +2 more
doaj   +1 more source

The content and reporting completeness of physical therapist‐led interventions for glenohumeral osteoarthritis: a systematic review

open access: yesArthritis Care &Research, Accepted Article.
Objectives This study synthesised the content and reporting completeness of published physical therapist‐led interventions for glenohumeral osteoarthritis (GHOA). Methods This systematic review undertook electronic database searches in PubMed, EMBASE, Cochrane, CINAHL and PEDro (until June 2025) for any peer‐reviewed articles/studies describing ...
Daha G Muhammad   +5 more
wiley   +1 more source

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