Quality of life in patients with Tuberous Sclerosis Complex (TSC)
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.
In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulatio...
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Subependymal giant cell astrocytoma (SEGA) is a type of brain tumour that develops in 10-15% of individuals with tuberous sclerosis complex (TSC). SEGAs can be unilateral or bilateral, developing from benign subependymal nodules (hamartomas) located near the foramen of Monro. These are usually slow-growing, glialneuronal tumours that develop within the first 2 decades of life. Traditionally, th...
متن کاملTherapeutic Trial of Metformin and Bortezomib in a Mouse Model of Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC) is a human genetic disorder in which loss of either TSC1 or TSC2 leads to development of hamartoma lesions, which can progress and be life-threatening or fatal. The TSC1/TSC2 protein complex regulates the state of activation of mTORC1. Tsc2(+/-) mice develop renal cystadenoma lesions which grow progressively. Both bortezomib and metformin have been proposed as p...
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PURPOSE Tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (AML) have a high lifetime risk of acute bleeding. MTOR-inhibitors are a promising novel treatment for TSC-AML, however adequate response to therapy can be difficult to assess. Early changes in MRI signal may serve as a novel early indicator for a satisfactory response to mTOR-inhibitor therapy of AML. MATERIALS AND METH...
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ژورنال
عنوان ژورنال: European Journal of Paediatric Neurology
سال: 2019
ISSN: 1090-3798
DOI: 10.1016/j.ejpn.2019.09.006