Results 31 to 40 of about 42,064 (302)

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Qiang, Tong, Jianghong, Zheng, Sheng-Ming, Dai   +2 more
openaire   +6 more sources

Parental Understanding of Tuberous Sclerosis Complex [PDF]

, 2014
Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Donald, Kirsten A., Samia, Pauline, Schlegel, Birgit, Wilmshurst, Jo M.   +3 more
core   +2 more sources

White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex

NeuroImage: Clinical, 2022
Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes, Charlotte Tye, Jacques-Donald Tournier, Anna J.E. Combes, Elizabeth Shephard, Holan Liang, Gareth J. Barker, Chiara Nosarti, Patrick Bolton   +8 more
doaj  

Tuberous sclerosis: A novel approach to diagnosis

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar, R Eeraveni, S Ponnuraj, N Kamarthi   +3 more
doaj   +1 more source

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

, 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   +2 more sources

Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report

Journal of Medical Case Reports, 2021
Background Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex ...
Koji Yamamoto, Yohei Maki, Yuichiro Sato, Hiroyuki Tanaka, Tsuyoshi Fukushima, Junko Ushijima, Seishi Furukawa, Hiroshi Sameshima, Hiroaki Kataoka   +8 more
doaj   +1 more source

Sinonasal angioleiomyoma with adipocyte differentiation: clinicopathologic study of 2 cases and review of the literature [PDF]

, 2019
Angioleiomyoma (ALM) is a benign tumor of the skin and soft tissues composed of well differentiated smooth muscle cells arranged around and among many vascular channels.
Corsi, A., D'Aguanno, V., De Vincentiis, L., de Vincentiis, M., Greco, A., Minni, A., Ralli, M., Remotti, D.   +7 more
core   +1 more source

Health care and risk of early death for people with learning disabilities [PDF]

, 2017
This commentary is on the original article "Causes of mortality in individuals with tuberous sclerosis complex" by Amin et ...
Amin, Heslop, Mencap, Mencap
core   +1 more source

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. [PDF]

, 2019
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC).
Beaure d'Augères, Guillaume, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Dahlin, Maria, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard   +29 more
core   +2 more sources

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source