Results 21 to 30 of about 42,064 (302)

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

A rare case of tuberous sclerosis complex-associated renal cell carcinoma

South African Journal of Radiology, 2022
Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga, Bianca Douglas-Jones, Danelo du Plessis, Camilla E. le Roux, Christel du Buisson, Shahida Moosa   +5 more
doaj   +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

Topical Rapamycin Therapy to Alleviate the Cutaneous Manifestations of Tuberous Sclerosis Complex [PDF]

, 2012
Background and Objectives: Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates
Hebert, Adelaide A., Koenig, Mary Kay, Northrup, Hope, Roberson, Joan, Samuels, Joshua, Slopis, John, Woerner, Audrey C   +6 more
core   +1 more source

Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: A rare case report

Indian Heart Journal, 2013
A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain, Vikas Kumar, Deba P. Kar, Shashi R. Prasad   +3 more
doaj   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non-mTOR-mediated etiologies. [PDF]

, 2018
The present study was designed to examine the potential cellular antiseizure mechanisms of everolimus, a mechanistic target of rapamycin (mTOR) pathway blocker, in pediatric epilepsy cases. Cortical tissue samples obtained from pediatric patients (n 
Barry, Joshua, Cepeda, Carlos, Fallah, Aria, Levine, Michael S, Levinson, Simon, Mathern, Gary W, Vinters, Harry V, Wu, Joyce Y, Yazon, Vannah-Wila   +8 more
core   +2 more sources

Tuberous Sclerosis Complex

Urology Journal, 2010
Thampi John Nirmal
doaj   +2 more sources

Clinical case of manifestation of tuberous sclerosis in a child

Zdorovʹe Rebenka, 2021
We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi, I.H. Samoilenko, Yu.S. Tolmachova, O.O. Dziuba, V.A. Bilanenko   +4 more
doaj   +1 more source

Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis. [PDF]

, 2013
ObjectiveTo perform a systematic review and individual participant data meta-analysis to identify preoperative factors associated with a good seizure outcome in children with Tuberous Sclerosis Complex undergoing resective epilepsy surgery.Data ...
Banfield, Laura, Bhandari, Mohit, Bhatnagar, Neera, Ebrahim, Shanil, Fallah, Aria, Guyatt, Gordon H, Ibrahim, George M, Kulkarni, Abhaya V, Liang, Shuli, Liao, Jianxiang, Mansouri, Alireza, Reddy, Deven, Rutka, James T, Snead, O Carter, Teutonico, Federica, Walter, Stephen D   +15 more
core   +2 more sources