The defective degradation of glycogen by the autophagy-lysosome pathway is, at least in part, independent of impaired regulation of mTORC1 and is restored, in cultured cells, by the combined use of PKB/Akt and mTORC1 pharmacological inhibitors. Diagnosis
Tuberous sclerosis complex is diagnosed with clinical and genetic tests. There are many different mutations in the TSC1 and TSC2 genes that have been identified in individuals with TSC. A pathogenic mutation in the gene prevents the proteins from being made or inactivates the proteins. If such a pathogenic mutation is found then this alone is sufficient to diagnose TSC. However, some mutations are less clear in their effect, and so not sufficient alone for diagnosis. Between 1 in 10 and 1 in 4 of individuals with TSC have no mutation that can be identified. Once a particular mutation is identified in someone with TSC, this mutation can be used to make confident diagnoses in other family members.For clinical diagnosis, there isnt one sign that is unique (pathognomonic) to TSC, nor are all signs seen in all individuals. Therefore, several signs are considered together, classed as either major or minor features. An individual with two major features, or one major feature and at least two minor features can be given a definite diagnosis of TSC. If only one major feature or at least two minor features are present, the diagnosis is only regarded as possibly TSC. TSC can be first diagnosed at any stage of life. Prenatal diagnosis is possible by chance if heart tumours are discovered during routine ultrasound.
Sodium thiosulfate (sodium thiosulphate) is an inorganic compound with the formula Na2S2O3.xH2O. Typically it is available as the white or colorless pentahydrate, Na2S2O3·5H2O. The solid is an efflorescent (loses water readily) crystalline substance that dissolves well in water.Sodium thiosulfate is used in gold mining, water treatment, analytical chemistry, the development of silver-based photographic film and prints, and medicine. The medical uses of sodium thiosulfate include treatment of cyanide poisoning and pityriasis. It is on the World Health Organizations List of Essential Medicines. Uses
Sodium thiosulfate is used predominantly in industry. For example, it is used to convert dyes to their soluble leuco form. It is also used to bleach "wool, cotton, silk, ...soaps, glues, clay, sand, bauxite, and... edible oils, edible fats, and gelatin." Medical uses
Sodium thiosulfate is used in the treatment of cyanide poisoning. Other uses include topical treatment of ringworm and tinea versicolor, and treating some side effects of hemodialysis and chemotherapy. Photographic processing
Silver halides, e.g., AgBr, typical components of photographic emulsions, dissolve upon treatment with aqueous thiosulfate.This application as a photographic fixer was discovered by John Herschel. It is used for both film and photographic paper processing; the sodium thiosulfate is known as a photographic fixer, and is often referred to as hypo, from the original chemical name, hyposulphite of soda. Ammonium thiosulfate is typically preferred to sodium thiosulfate for this application.