Results 41 to 50 of about 358,265 (351)

Tuberous sclerosis [PDF]

European Journal of Human Genetics, 2006
Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein ...
openaire   +2 more sources

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

MTOR cross-talk in cancer and potential for combination therapy [PDF]

, 2018
The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions.
Bazzichetto, C., Bria, E., Ciuffreda, L., Cognetti, F., Conciatori, F., Falcone, I., Milella, M, Pilotto, S.   +7 more
core   +3 more sources

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

Bilateral renal angiomyolipomas with invasion of the renal vein: A case report [PDF]

, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
Blick, C, Jones, A, Muneer, A, Ravindranath, N   +3 more
core   +3 more sources

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

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

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

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

Tuberous Sclerosis Complex in a 17-month-old: A Case Report

Journal of Nepal Medical Association, 2023
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C., Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, Pradeep Maharjan   +5 more
doaj   +1 more source