Results 41 to 50 of about 347,356 (359)

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

Burden of renal angiomyolipomas associated with tuberous sclerosis complex: results of a patient and caregiver survey

Journal of Patient-Reported Outcomes, 2018
Background Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, including non-cancerous kidney lesions known as renal angiomyolipomas.
Anne M. Rentz, Anne M. Skalicky, Zhimei Liu, David W. Dunn, Michael D. Frost, Jo Anne Nakagawa, Judith Prestifilippo, Qayyim Said, James W. Wheless   +8 more
doaj   +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

Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis. [PDF]

, 2018
Diffuse cutaneous mastocytosis (DCM) is a rare but potentially fatal condition when diagnosis and targeted treatments are delayed. This case illustrates the life-threatening complications in DCM and reviews the currently available treatments.
Akin, Alvarez-Twose, Bankova, Bodemer, Brockow, Brockow, Caughey, Chan, Edwards, Escribano, Escribano, Flageul, Fried, Galli, Garg, Hannaford, Hartmann, Has, Heide, Huang, Lange, Melo, Murphy, Orkin, Polk, Poterack, Prieto-García, Smith, Tolar, Valent, Wolff, Zhang, Álvarez-Twose   +32 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Epilepsia Open, 2018
To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC).
R. Nabbout, E. Belousova, M. Benedik, T. Carter, V. Cottin, P. Curatolo, M. Dahlin, Lisa D´Amato, G. B. d'Augères, P. D. de Vries, J. Ferreira, M. Feucht, C. Fladrowski, C. Hertzberg, S. Jóźwiak, J. Lawson, A. Macaya, R. Marques, F. O'callaghan, J. Qin, Valentin Sander, M. Sauter, Seema Shah, Yukitoshi Takahashi, R. Touraine, S. Youroukos, B. Zonnenberg, A. Jansen, J. Kingswood, Nobuo Shigeo Masaya Jun Katsumi Mari Hideo Yasushi Shoic Shinohara Horie Kubota Tohyama Imai Kaneda Kaneko , N. Shinohara, S. Horie, M. Kubota, J. Tohyama, K. Imai, M. Kaneda, Hideo Kaneko, Y. Uchida, Shoichi Endo, Y. Inoue, K. Uruno, A. Serdaroğlu, Z. Yapıcı, B. Anlar, Ş. Altunbaşak, O. Lvova, Oleg Valeryevich Belyaev, O. Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, A. Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, G. Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, J. Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhi-sheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei Chen, Hsiu-Fen Lee, J. Tsai, C. Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, P. Kwan, S. Likasitwattanakul, C. Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, J. Wilmshurst, R. Segel, T. Gilboa, M. Tzadok, A. Fattal-Valevski, P. Papathanasopoulos, Antigone Syrigou Papavasiliou, S. Giannakodimos, S. Gatzonis, E. Pavlou, M. Tzoufi, Marc Dhooghe, H. Verhelst, F. Roelens, Marie Cecile Nassogne, P. Defresne, Liesbeth De Waele, P. Leroy, N. Demonceau, P. van Bogaert, B. Ceulemans, L. Dom, P. Castelnau, A. De Saint Martin, A. Riquet, M. Milh, C. Cances, J. Pedespan, D. Ville, A. Roubertie, S. Auvin, P. Berquin, C. Richelme, Catherine Allaire, S. Gueden, S. Nguyen The Tich, B. Godet, M. L. Rojas, Jaume Campistol Planas, A. Bermejo, P. S. Durá, S. R. Aparicio, M. J. M. González, J. Pisón, Manuel Oscar Blanco Barca, E. Laso, O. Luengo, Francisco Javier Aguirre Rodriguez, I. M. Diéguez, A. C. Salas, Itxaso Martí Carrera, E. Salcedo, M. Petri, R. Candela, I. Carrilho, J. P. Vieira, J. Monteiro, M. Leão, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, M. Endzinienė, J. Strautmanis, I. Talvik, M. Canevini, A. Gambardella, D. Pruna, Salvatore Buono, E. Fontana, B. Bernardina, C. Burloiu, Iuliu Stefan Bacos Cosma, M. Vințan, L. Popescu, K. Zitterbart, J. Payerova, L. Bratsky, Z. Žilinská, U. Gruber‐Sedlmayr, E. Haberlandt, K. Rostásy, E. Pataraia, F. Elmslie, Clare Ann Johnston, P. Crawford, P. Uldall, P. Uvebrant, Olof Rask, Marit Bjoernvold, Andreas Sloerdahl, Ragnar Solhoff, M. Jaatun, M. Mandera, E. Radzikowska, M. Wysocki, M. Fischereder, G. Kurlemann, B. Wilken, A. Wiemer-Kruel, K. Budde, K. Marquard, M. Knuf, A. Hahn, H. Hartmann, A. Merkenschlager, R. Trollmann   +188 more
semanticscholar   +1 more source

Concomitant diagnosis of bipolar disorder and tuberous sclerosis - a case report

European Psychiatry, 2022
Introduction Tuberous sclerosis is a multisystem genetic disorder. It is associated with significant psychiatric comorbidity mainly autistic disorders, hyperkinetic disorders, depression and anxiety.
M. Santos, T. Ferreira, P. Neves, J. Peres   +3 more
doaj   +1 more source

The diagnosis to be kept in mind in resistant epilepsy; tuberous sclerosis

Northwestern Medical Journal, 2022
Drug-Resistant Epilepsy is the continuation of seizures despite administering two tolerable antiepileptic drugs at the appropriate dose and time, which are selected according to the type of seizure.
Fatih Kurt, Recep Eröz, Mustafa Doğan
doaj   +1 more source

A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. [PDF]

, 2020
BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites.
Hyde, Carly, Jeste, Shafali S, Kasari, Connie, McDonald, Nicole M, Nelson, Charles A, Pizzano, Maria, Thiele, Elizabeth A   +6 more
core   +1 more source

Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. [PDF]

, 2019
Brain-infiltrating lymphocytes (BILs) were isolated from resected brain tissue from 10 pediatric epilepsy patients who had undergone surgery for Hemimegalencephaly (HME) (n = 1), Tuberous sclerosis complex (TSC) (n = 2), Focal cortical dysplasia (FCD) (n
Chang, Julia W, Fallah, Aria, Garcia, Alejandro J, Mathern, Gary W, Mochizuki, Aaron Y, Owens, Geoffrey C, Prins, Robert M, Reyes, Samuel D, Salamon, Noriko   +8 more
core   +5 more sources