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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.
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 ...
Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
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]
An esophageal food bolus obstruction is a medical emergency caused by the obstruction of the esophagus by an ingested foreign body.. It is usually associated with diseases that may narrow the lumen of the esophagus, such as eosinophilic esophagitis, Schatzki rings, peptic strictures, webs, or cancers of the esophagus; rarely it can be seen in disorders of the movement of the esophagus, such as ...
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.
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 ...
Treatment for these patients should focus on the underlying contributors. Additionally, treatment of the inflammation of HLH itself is often required. [citation needed] While optimal treatment of HLH is still being debated, current treatment regimes usually involve high dose corticosteroids, etoposide and cyclosporin.