Batten disease research--where we were--where we are--where we are going.
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Biomedical subjects
Publications and source records attributed to D L Rider.
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From a meager beginning in 1968, when Batten disease or neuronal ceroid lipofuscinosis was practically unheard of, tremendous advances have been made. It is now recognized worldwide as the most common neurodegenerative disease in children and young adults. It is recognized as a genetic disease. The infantile form has been localized to chromosome 1 p32 and the juvenile form, to 16p12.1; the gene for the late infantile is on chromosome 11p15 and for a variant form of the late infantile, the gene lies on chromosome 15q21-23. Finally, the molecular basis of the late infantile form is probably a pepstatin-insensitive lysomal peptidase. The future is to identify carriers, prevent the disease, and develop treatment by gene and enzyme replacement.
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The name Batten disease (or neuronal ceroid lipofuscinosis) is used to unify the spectrum of clinical and pathological conditions covered by the names infantile, late infantile, juvenile, and adult variants with their respective eponyms. The past was largely devoted to clinical diagnosis. The present is devoted to specific diagnostic tests. The future will be devoted to prevention and treatment. Treatment may consist of specific drug treatment, enzyme replacement, or gene replacement. Early diagnosis is important in order to provide genetic counseling and to establish family support for those patients who have a protracted, progressive disabling and ultimate fatal course.
Gastric bezoars may occur in the normal stomach as a result of ingestion of various objects which do not pass through the pylorus. Most gastric bezoars occur as a complication of previous gastric surgery in which there is a loss of normal pyloric function, hypoperistalsis, and low gastric acidity. They may also occur as a complication of cimetidine therapy. Symptoms include epigastric fullness, regurgitation, nausea and vomiting, and epigastric pain. A simple treatment utilizing an ordinary Teledyne Water Pik jet stream through a gastroscope is described to break up a large phytobezoar. This method is probably the treatment of choice and should be used more widely.
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