Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E malabsorption and deficiency during chronic childhood cholestasis has been associated with a progressive ataxic neurologic syndrome. Hyporeflexia, the first sign of neurologic dysfunction, may begin prior to age 2 years, but severe symptoms do not develop until age 5 to 10 years. To establish the age of onset of neuropathologic lesions, we prospectively evaluated four young children with severe cholestasis. Malabsorption and deficiency of vitamin E were documented by low serum vitamin E concentrations, low serum vitamin E to total serum lipids ratios, elevated hydrogen peroxide hemolysis, and impaired absorption of a pharmacologic dose of alpha-tocopherol. Abnormal neurologic findings in two patients were limited to areflexia, ptosis, mild truncal ataxia, and hypotonia; two patients had minimal signs of neurologic dysfunction. Sural nerve histology at age 6 to 25 months revealed a degenerative axonopathy involving large-caliber myelinated fibers, but without quantitative axonal loss. Muscle histology and histochemistry tests yielded normal results. Our study suggests that neurologic injury may occur during the first two years of life in vitamin E-deficient children with cholestatic hepatobiliary disease, obligating aggressive attempts at correcting this deficiency state at a very young age.
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PMID:Vitamin E deficiency during chronic childhood cholestasis: presence of sural nerve lesion prior to 2 1/2 years of age. 630 96

Two siblings with progressive intrahepatic cholestasis were reported. The brother died at 4 years of age because of hepatic failure followed by persistent obstructive jaundice starting at 4 months of age. The sister had unique clinical features, including recurrent obstructive jaundice since early infancy, radiopaque gallstone and neurological abnormalities which were cerebellar ataxia, bilateral ptosis, hyporeflexia and visual disturbance involving retinal degeneration and optic atrophy. She had a coarse facial appearance, camptodactyly and sclerotic skin with many scratch marks. Persistent high levels of serum bile acids were found while the patient was icteric and even anicteric, though serum cholesterol levels were approximately within normal limits. The serum lipoprotein-X was negative whenever examined. Cholestyramine treatment gave incomplete relief from pruritus but resulted in no improvement in her clinical course.
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PMID:Familial cholestasis with gallstone, ataxia and visual disturbance. 711 42

Perhaps it was the innate human fear of the dark, or the recognition that health was linked in some way to diet. Maybe it was the Hippocratic description of dyspepsia. Whatever the reason, the human desire to peer inside the body was a driving force in the development of endoscopy. The field of gastroenterology began with the Phillip Bozzini's crude, candle-powered lichtleiter in 1805 and blossomed with the introduction of flexible gastrointestinal endoscopy by Basil Hirschowitz in the late 1950s. Pediatric gastroenterology began early 1970s. Fueled by the application of gastrointestinal endoscopy to childhood digestive disease, pediatric gastroenterology has emerged as one of the most diverse medical-surgical practices in modern medicine. Pediatric endoscopists are alerted to prolapse gastropathy, a more accurate description of an old and possibly common cause of upper gastrointestinal bleeding in children. Pediatric endoscopic retrograde cholangiopancreatography continues to evolve, with increasing use in the diagnosis of infant cholestasis and endoscopic treatment of pancreatitis. These developments suggest a need for advanced training in endoscopy for pediatric gastroenterologists. Trends in gastrointestinal endoscopy are moving toward more therapeutic procedures and less diagnostic endoscopy. Therapeutic endoscopy, for example, may soon include antireflux operations. Computer-assisted virtual endoscopy and the wireless pill videoendoscope may replace diagnostic endoscopy eventually. The purpose of this review is to explore the origins of pediatric endoscopy, discuss current innovations, and look at the future of our discipline.
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PMID:Gastroenterologic endoscopy in children: past, present, and future. 1180 88