The electroencephalogram in hepato-lenticular degeneration (Wilson's disease)

The absorption and excretion of radiocopper in hepato-lenticular degeneration (Wilson's disease).

Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.

Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept tha...

Anesthetic Management of a Pediatric Patient With Wilsons Disease

UNLABELLED Wilsons disease, characterized by cirrhosis, extrapyramidal symptoms and Kayser-Fleischer corneal rings, is a rare hereditary disease of human copper metabolism. Clinical findings in Wilsons disease are complex and neurological symptoms such as tremor, dysarthria, rigid dystonia, seizures, psychiatric disorders, acute liver failure, chronic hepatitis or cirrhosis may develop. A 4-yea...

The Study of Serum Asymmetric Dimethylarginine Concentrations in the Different Paraoxonase Phenotypes of Exudative Age-related Macular Degeneration Disease

Background and Aims: Age-related macular degeneration (ARMD) is a degenerative retinal disorder that causes progressive loss of central vision in older adults. The study aimed to determine the effect of asymmetric dimethylarginine (ADMA) as oxidizing metabolite and paraoxonase (PON1) activity within its phenotypes as an antioxidant agent in the development of such multifactorial disease. Mater...

Lenticular abnormalities in children.

PURPOSE To study the lenticular problems in children presenting at an apex institute. METHODS Retrospective analysis of records (< 14 years) of new lens clinic cases was done. RESULTS Of 1,047 children, 687 were males. Mean age at presentation was 6.35 ± 4.13 years. Developmental cataract was seen in 45.6% and posttraumatic cataract in 29.7% of patients. Other abnormalities were cataract wi...