Results 81 to 90 of about 358,265 (351)

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 more
doaj   +1 more source

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. [PDF]

, 2019
Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA).
Agranovich, Oleg, Altunbasak, Sakir, Anlar, Banu, Belousova, Elena, Belyaev, Oleg Valeryevich, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, D'Augères, Guillaume Beaure, Dahlin, Maria, De Vries, Petrus J., Endo, Shoichi, Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Horie, Shigeo, Imai, Katsumi, Inoue, Yoshikazu, Jansen, Anna C., Jozwiak, Sergiusz, Kaneda, Mari, Kaneko, Hideo, Kingswood, John C., Kirino, Tomoko, Kubota, Masaya, Lawson, John A., Levitina, Elena Vladislavovna, Lvova, Olga, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Serdaroglu, Ayse, Shah, Seema, Shinohara, Nobuo, Takahashi, Yukitoshi, Tohyama, Jun, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Uchida, Yasushi, Uruno, Katsuhisa, Yapici, Zuhal, Youroukos, Sotiris, Zonnenberg, Bernard   +49 more
core   +2 more sources

FPR2 contributes to the dysfunction of inflammation resolution and neuronal excitability in focal cortical dysplasia type IIb and tuberous sclerosis complex [PDF]

, 2022
Kaixuan Huang, Zhongke Wang, Zeng He, Yang Li, Shu-Jing Li, Kai‐Feng Shen, Gang Zhu, Zhonghong Liu, Shengqing Lv, Chunqing Zhang, Hui Yang, Xiaolin Yang, Shiyong Liu   +12 more
openalex   +1 more source

Preclinical signal for a disease‐modifying effect on seizure cluster severity with intermittent diazepam treatment

Epilepsia, EarlyView.
Abstract Objective In epilepsy, daily treatment provides only symptomatic seizure control, leaving a significant unmet need for a treatment that affects the underlying predisposition to seizures. Here, in a first‐of‐its‐kind study, we test the hypothesis that intermittent treatment of seizure clusters with diazepam in the kainic acid post‐status ...
Qian Wu, Michelle Guignet, Jonathan Vuong, H. Steve White, Wesley T. Kerr, Evelyn K. Shih, Leock Y. Ngo, Enrique Carrazana, Adrian L. Rabinowicz   +8 more
wiley   +1 more source

Multiple Cardiac Rhabdomyomas, Wolff-Parkinson-White Syndrome, and Tuberous Sclerosis: An Infrequent Combination

Case Reports in Pediatrics, 2014
Cardiac rhabdomyomas are benign cardiac tumours and are often associated with tuberous sclerosis. They are often asymptomatic with spontaneus regresion but can cause heart failure, arrhythmias, and obstruction. There have also been a few isolated reports
Elena Castilla Cabanes, Isaac Lacambra Blasco   +1 more
doaj   +1 more source

Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]

, 2017
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark, Kingswood, John C., Saxena, Anurag   +2 more
core   +3 more sources

The genomic landscape of tuberous sclerosis complex

Nature Communications, 2017
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic
Katie R. Martin, Wanding Zhou, M. Bowman, J. Shih, K. Au, Kristin E. Dittenhafer-Reed, Kellie A. Sisson, Julie M. Koeman, D. Weisenberger, S. Cottingham, S. Deroos, O. Devinsky, M. Winn, A. Cherniack, Hui Shen, H. Northrup, D. Krueger, J. MacKeigan   +17 more
semanticscholar   +1 more source

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort

Molecular Genetics & Genomic Medicine
Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The “no mutations identified” (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by ...
Clara W. T. Chung, Adam M. Bournazos, Lok Chi Denise Chan, Vanessa Sarkozy, John Lawson, Sean E. Kennedy, Sandra T. Cooper, Edwin P. Kirk, David Mowat   +8 more
doaj   +1 more source

Meta-analysis of stomatitis in clinical studies of everolimus: incidence and relationship with efficacy. [PDF]

, 2016
BackgroundEverolimus, an oral mammalian target of rapamycin (mTOR) inhibitor, is used to treat solid tumors and tuberous sclerosis complex (TSC). Stomatitis, an inflammation of the mucous membranes of the mouth, is a common adverse event associated with ...
Anak, O, Franz, D, Gallo, J, Hortobagyi, GN, Motzer, R, Pavel, M, Ravaud, A, Ringeisen, F, Rouyrre, N, Rugo, HS, Yao, J   +10 more
core  

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. [PDF]

, 2019
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to
Auvin, S., Bissler, J.J., Cottin, V., Fujimoto, A., Hofbauer, G.F.L., Jansen, A.C., Jóźwiak, S., Kerecuk, L., Kingswood, J.C., Moavero, R., Torra, R., Universitat Autònoma de Barcelona, Villanueva, V.   +12 more
core   +2 more sources