Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2016-312001
Abstract: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop… read more here.
Keywords: tuberous sclerosis; sclerosis complex; tsc associated; role ... See more keywords
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
Sign Up to like & getrecommendations! Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0901-8
Abstract: BackgroundMost evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international… read more here.
Keywords: associated neuropsychiatric; tsc associated; study; disorders tand ... See more keywords
Treatment-Resistant Epilepsy and Tuberous Sclerosis Complex: Treatment, Maintenance, and Future Directions
Sign Up to like & getrecommendations! Published in 2023 at "Neuropsychiatric Disease and Treatment"
DOI: 10.2147/ndt.s347327
Abstract: Abstract Tuberous sclerosis complex (TSC) is a neurogenetic disorder that affects multiple organ systems, including the heart, kidneys, eyes, skin, and central nervous system. The neurologic manifestations have the highest morbidity and mortality, in particular… read more here.
Keywords: tsc associated; associated epilepsy; treatment; tuberous sclerosis ... See more keywords
Long-term efficacy and safety of sirolimus for retinal astrocytic hamartoma associated with tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.973845
Abstract: Mammalian target of rapamycin (mTOR) inhibitors (sirolimus or everolimus) have been demonstrated effective in reducing the size of tuberous sclerosis complex (TSC)-associated retinal astrocytic hamartoma (RAH) in short term. To investigate the long-term efficacy and… read more here.
Keywords: long term; tsc associated; retinal astrocytic; term ... See more keywords