Results 71 to 80 of about 50,774 (290)

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

, 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   +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

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

Cannabidiol in Anorexia Nervosa: A Double‐Blind Randomized Placebo Controlled Pilot Study to Test Safety, Pharmacokinetics, and Symptom Change

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a severe psychiatric disorder marked by an intense fear of gaining weight and persistent body dissatisfaction, both during periods of underweight and after weight restoration. The endocannabinoid system may offer therapeutic benefits, particularly in reducing anxiety.
Neha Sahota, David J. Grelotti, Tyler Nguyen, Walter H. Kaye, Skylar Swindle, Raymond Suhandynata, Spencer Seely, Megan E. Shott, Guido K. W. Frank   +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

Psychiatric Impact of Tuberous Sclerosis Complex and Utilization of Mental Health Treatment [PDF]

, 2018
Tuberous sclerosis complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND).
Mowrey, Kate
core   +1 more source

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor [PDF]

, 2015
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB).
Carai, Andrea, Colafati, Giovanna S, Curatolo, Paolo, Diomedi Camassei, Francesca, Ferretti, Elisabetta, Folgiero, Valentina, Lepri, Francesca Romana, Locatelli, Franco, Mastronuzzi, Angela, Miele, Evelina, Moavero, Romina, Po, Agnese, Tornesello, Assunta, Valeriani, Massimiliano, Vigevano, Federico   +14 more
core   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy

Neuropsychiatric Disease and Treatment, 2016
Jamie K Capal, David Neal Franz Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 births ...
Capal J, Franz DN
doaj  

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source