Results 1 to 10 of about 347,292 (296)

Tuberous Sclerosis [PDF]

Pediatric Neurology Briefs, 1988
A report of a joint meeting of the Forum on Mental Retardation of the Royal Society of Medicine and The Tuberous Sclerosis Association of Great Britain states that the prevalence of tuberous sclerosis (TS) for children under 15 years may be 1 in 10,300.
J Gordon Millichap
doaj   +6 more sources

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Orphanet Journal of Rare Diseases, 2022
Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai   +8 more
doaj   +2 more sources

Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]

Anais Brasileiros de Dermatologia, 2018
: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado   +4 more
doaj   +2 more sources

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

Nature Network Boston, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +3 more sources

Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures [PDF]

Epilepsia, 2018
ObjectiveThe present analysis examined the exposure-response relationship by means of the predose everolimus concentration (C-min) and the seizure response in patients with tuberous sclerosis complex-associated seizures in the EXIST-3 study ...
Brandt, Christian, Cheung, Wing, Coello, Neva, Franz, David N, French, Jacqueline A, Grosch, Kai, Kohrman, Michael H, Lawson, John A, Milh, Mathieu, Voi, Maurizio, Wiemer-Kruel, Adelheid, Wong, Michael, Yapici, Zuhal   +12 more
core   +3 more sources

Tuberous Sclerosis

Vestnik Dermatologii i Venerologii, 2018
Aetiology, pathogenesis, clinical and patomorphological criteria for diagnosis of tuberous sclerosis diagnosis are described in this paper. Clinical case of long undiagnosed tuberous sclerosis is presented.
K. N. Monahov, O. L. Romanova, P. O. Amelina, K. Yu. Molodyh, Yu. S. Astahov, P. A. Nechiporenko, L. K. Atlasova   +6 more
doaj   +3 more sources

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness [PDF]

Nephrology, Dialysis and Transplantation, 2018
BACKGROUND: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications.
Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D' Amato, L, d'Augères, GB, Dahlin, M, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jansen, AC, Jozwiak, S, Kingswood, JC, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, TOSCA Consortium and TOSCA Investigators, Touraine, R, Youroukos, S, Zonnenberg, B   +29 more
core   +2 more sources

Management of Renal Angiomyolipomas in Tuberous Sclerosis: A Case Series [PDF]

Vascular Specialist International
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis.
Ganesh G Gowda, Maureen Prativa Tigga, Rashmi Hosahalli Sreenath   +2 more
doaj   +2 more sources

Anaesthesia and tuberous sclerosis

British Journal of Anaesthesia, 1994
The anaesthetic management of a patient with tuberous sclerosis undergoing two-stage scoliosis surgery is described. The patient suffered from severe mental retardation, seizures and facial angiofibromas. General anaesthesia using isoflurane and nitrous oxide in oxygen, supplemented with opioid analgesia and hydralazine, and labetalol to induce ...
J.J. LEE, Meghan Imrie, Vicki M. Taylor
openalex   +4 more sources

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]

, 1999
Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida), Bakker, R. (Remco), Halley, D.J.J. (Dicky), Lindhout, D. (Dick), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Slegtenhorst, M.A. (Marjon) van, Tempelaars, A.M.P. (Anita), Verhoef, S., Wang, Q. (Qing), Wessels, M.W. (Marja)   +10 more
core   +3 more sources