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A gastric emptying scintigraphy test involves eating a bland meal that contains a small amount of radioactive material. An external camera scans the abdomen to locate the radioactive material. The radiologist measures the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. The test can help confirm a diagnosis of dumping syndrome.
Chromosome 17 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells.
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Distal 18q- causes a wide range of medical and developmental concerns, with significant variation in severity due to the variation in breakpoints reported in individuals with distal 18q-. Current research is focused on establishing genotype-phenotype correlations to enable predictive genotyping .
Dasypeltis fasciata, commonly known as the Central African egg-eating snake or the western forest eggeater, is a species of snake in the family Colubridae. The species is endemic to Africa . It is one of 18 species in the genus Dasypeltis , and is occasionally kept in captivity as an exotic pet along with other members of its genus ...
A year after this report, German physician A. J. Beuren described three new patients with the same presentation. This led to the syndrome's full original name, Williams-Beuren syndrome, which is still used in some medical publications. From 1964 to 1975, small research reports broadened medical knowledge of this syndrome's cardiovascular problems.
FILIP1L: encoding protein Filamin A interacting protein 1 like; GYG1: Glycogenin-1; HACD2 encoding protein 3-hydroxyacyl-CoA dehydratase 2; HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase) IFT122: intraflagellar transport gene 122; KIAA1257: KIAA1257; LINC01279: encoding protein long intergenic non-protein coding RNA 1279
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.