Results 81 to 90 of about 11,342 (257)
Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease
, 2016 Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene.
Uta Merle, Ralf Weiskirchen
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Wilson’s disease: Atypical Imaging features
, 2016 Wilson’s disease is a genetic movement disorder with characteristic clinical and imaging features. We report a 17-year-old boy who presented with sialorrhea, hypophonic speech, paraparesis with repeated falls and recurrent seizures along with cognitive ...
Sameer Vyas; PGIMER +4 more
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Wilson’s Disease, Etiology and Treatment: Wilson disease
Background: Wilson’s disease is a chronic, gradually developed disease. Its concern is as an autosomal recessive inherited metabolic disorder. The deposition of copper in many organs, such as the liver, eyes, kidneys, and basal ganglia in the brain is ...
Rada, Feryal
core +1 more source
, 2006 Wilson’s disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene ATP7B. The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in ...
Kunal Ray +3 more
core +1 more source
Rationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna +11 more
wiley +1 more source
A case of Wilson’s disease presenting as acute hepatitis
Khyber Medical University Journal, 2012 In Bangladesh and in most parts common causes of acute hepatitis include hepatitis viruses, alcohol and drugs. However less common aetiologies like Wilson’s disease must be kept in mind and looked for, whenever there is strong suspicion.
Nuzhat Choudhury +2 more
doaj
Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion +11 more
wiley +1 more source
Cuproptosis – copper-induced cell death – and Wilson’s disease
, 2023 This presentation outlines the mechanism of cuproptosis – a regulated cell death induced by copper(I) and the implications of this recently formulated (2022) biochemical sequence for the pathogenesis of Wilson’s disease.
Rupert Purchase (16039694)
core +1 more source
Annals of Neurology, EarlyView.Objective The objective of this study was to quantify incremental diagnostic yield and prognostic value of continuous electroencephalography (cEEG; ≥12 hours) versus a 60‐minute short electroencephalography (sEEG) in predicting post‐stroke epilepsy (PSE) in patients without acute symptomatic seizures.
Kai Michael Schubert +8 more
wiley +1 more source