scholarly journals EP06.15: Tuberous sclerosis complex: the role of ultrasonography in the detection of different brain manifestations

2019 ◽  
Vol 54 (S1) ◽  
pp. 265-265
Author(s):  
A.T. Farajov ◽  
G. Mammadova ◽  
G. Garayeva ◽  
A. Azimova ◽  
E. Huseynov
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

scholarly journals The effect of sirolimus on angiomyolipoma is determined by decrease of fat-poor compartments and includes striking reduction of vascular structures

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Elieser Hitoshi Watanabe ◽  
Fernando Morbeck Almeida Coelho ◽  
Hilton Leão Filho ◽  
Bruno Eduardo Pedroso Balbo ◽  
Precil Diego Miranda de Menezes Neves ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Blood Vessels ◽  
Tuberous Sclerosis Complex ◽  
Hounsfield Unit ◽  
Mtor Inhibitors ◽  
Volume Reduction ◽  
Tumor Reduction ◽  
Vascular Structures ◽  
Remarkable Reduction

AbstractRenal angiomyolipomas hemorrhage is associated with their size and vascular constitution. The effects of sirolimus on different components of angiomyolipomas was analyzed in patients with tuberous sclerosis complex, sporadic lymphangioleiomyomatosis and multiple sporadic angiomyolipomas. Thirty angiomyolipomas from 14 patients treated with sirolimus were retrospectively evaluated. A Hounsfield-unit threshold was used to classify angiomyolipomas in fat-rich, fat-poor and intermediate-fat tumors, and to categorize tumor compartments in fat rich, fat poor, intermediate fat and highly vascularized. Diameter variations were measured to assess the effects on aneurysmatic/ectatic vascular formations. Volume reduction following treatment with sirolimus was higher in fat-poor than fat-rich angiomyolipomas. Tumor reduction was mainly determined by decrease of the fat-poor and highly-vascularized compartments while the volume of the fat-rich compartment increased. Broad liposubstitution was observed in some tumors. A median reduction of 100% (75 to 100) in the diameter of aneurysmatic/ectatic vascular structures was observed. Our study showed that sirolimus reduces the size of angiomyolipomas by decreasing primarily their highly-vascularized and fat-poor compartments. This effect is associated with a remarkable reduction of tumoral aneurysms/ectatic vessels, revealing the likely mechanism responsible for the risk-decreasing effect of mTOR inhibitors on angiomyolipoma bleeding. These findings support the role of mTOR in the development of angiomyolipoma blood vessels.

scholarly journals Tuberous sclerosis complex: The critical role of the interventional radiologist in management

2021 ◽  
Vol 25 (1) ◽  
Author(s):  
Puneet Garg ◽  
Anuradha Sharma ◽  
Heena Rajani ◽  
Apratim R. Choudhary ◽  
Rajkumar Meena
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Critical Role ◽  
Interventional Radiologist

scholarly journals TUBEROUS SCLEROSIS COMPLEX: ROLE OF RADIOLOGY AS AN INVALUABLE TOOL IN MANAGEMENT AND FOLLOW-UP

2014 ◽  
Vol 01 (03) ◽  
pp. 143-146
Author(s):  
Shashi Sharma ◽  
Sandeep Sharma ◽  
Priya Ramchandran ◽  
B B Sharma
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Invaluable Tool

ROLE OF EEG IN PREDICTION OF EPILEPSY IN INFANTS WITH TUBEROUS SCLEROSIS COMPLEX

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Jozwiak ◽  
D Domanska-Pakiela ◽  
J Kasprzyk-Obara
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex

FP28-TU-03 The role of mTOR and Erk in brain lesions in tuberous sclerosis complex

2009 ◽  
Vol 285 ◽  
pp. S102
Author(s):  
K. Kotulska ◽  
M. Tyburczy ◽  
W. Grajkowska ◽  
D. Domańska-Pakieła ◽  
D. Chmielewski ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Brain Lesions

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions

Drugs ◽  
2016 ◽  
Vol 76 (5) ◽  
pp. 551-565 ◽  
Author(s):  
Paolo Curatolo ◽  
Marit Bjørnvold ◽  
Patricia E. Dill ◽  
José Carlos Ferreira ◽  
Martha Feucht ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mtor Inhibitors ◽  
Evidence Based ◽  
Expert Opinions

scholarly journals The Role of Tuberous Sclerosis Complex 1 in Regulating Innate Immunity

2012 ◽  
Vol 188 (8) ◽  
pp. 3658-3666 ◽  
Author(s):  
Hongjie Pan ◽  
Thomas F. O’Brien ◽  
Ping Zhang ◽  
Xiao-Ping Zhong
Keyword(s):  
Innate Immunity ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex
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