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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Research of Down syndrome–related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. [3]
Carbapenems are the treatment of choice for serious infections due to ESBL-producing organisms, yet carbapenem-resistant (primarily ertapenem-resistant) isolates have recently been reported. [16] ESBL-producing organisms may appear susceptible to some extended-spectrum cephalosporins. However, treatment with such antibiotics has been associated ...
Adults with repaired TOF require lifelong surveillance to monitor for such complications, with frequency of monitoring varying according to age, diagnostic methods, and the severity of the condition. [63] Total repair of tetralogy of Fallot initially carried a high mortality risk, but this risk has gone down steadily over the years.
While it is often found in people with Down Syndrome, [3] many who have this syndrome do not have this crease, and thus is not a diagnostic indicator of Down Syndrome. The presence of a single transverse palmar has been associated with several abnormal medical conditions—that is, it is found at a higher than 1.5% frequency, but in all of ...
John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down's or Down syndrome, which he originally classified in 1862. He is also noted for his work in social medicine and as a pioneer in the care of mentally disabled patients. [1]
DSCAM and Dscam are both abbreviations for Down syndrome cell adhesion molecule. [5] In humans, DSCAM refers to a gene that encodes one of several protein isoforms. [6] Down syndrome (DS), caused by trisomy 21, is the most common birth defect associated with intellectual disability. DSCAM plays a crucial role in the development of DS: it is ...
The treatment for PRES is supportive: removal of the cause or causes and treatment of any of the complications, such as anticonvulsants for seizures. PRES may be complicated by intracranial hemorrhage, but this is relatively rare. The majority of people recover fully, although some may experience some residual symptoms.