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Selumetinib is used for the treatment of neurofibromas in those with neurofibromatosis type I (NF-1). [17] This is a rare, progressive condition caused by a mutation or flaw in the gene coding for the protein neurofibromin 1. [14] NF-1 is usually diagnosed in early childhood and appears in an estimated one out of every 3,000 infants. [14]
Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
Many require lifelong surveillance and various treatments depending on the particular syndrome and presentation. Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from the ectoderm such as the central nervous system, skin and eyes.
NF1 was cloned in 1990 [11][12] and its product neurofibromin was identified in 1992. [13][14][15][16] Neurofibromin, a GTPase-activating protein, primarily regulates the protein Ras. [17] NF1 is located on the long arm of chromosome 17, position q11.2 [7] NF1 spans over 350- kb of genomic DNA and contains 62 exons.
Intravitreal injection is the method of administration of drugs into the eye by injection with a fine needle. The medication will be directly applied into the vitreous humor. [1] It is used to treat various eye diseases, such as age-related macular degeneration (AMD), diabetic retinopathy, and infections inside the eye such as endophthalmitis. [1]
Neurofibromin 1 (NF1) is a gene in humans that is located on chromosome 17. [5] [6] [7] NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras -bound GTP. [5] [6] [8] NF1 has a high mutation rate and mutations in NF1 can alter cellular growth control ...
Trifluridine (also called trifluorothymidine; abbreviation TFT or FTD[1]) is an anti- herpesvirus antiviral drug, used primarily as prescription eyedrops. It was sold under the trade name Viroptic by Glaxo Wellcome, now merged into GlaxoSmithKline. The brand is now wholly owned by King Pharmaceuticals.
Ophthalmic drug administration is the administration of a drug to the eyes, most typically as an eye drop formulation. Topical formulations are used to combat a multitude of diseased states of the eye. These states may include bacterial infections, eye injury, glaucoma, and dry eye. [1] However, there are many challenges associated with topical ...