Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma

2017 ◽  
Vol 33 (7) ◽  
pp. 1277-1282 ◽  
Author(s):  
Xue Song ◽  
Zhimei Liu ◽  
Katherine Cappell ◽  
Christopher Gregory ◽  
Qayyim Said ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Angiomyolipoma ◽  
History Of

scholarly journals Natural History Of Patients With Tuberous Sclerosis Complex Related Renal Angiomyolipoma

2014 ◽  
Vol 17 (3) ◽  
pp. A56 ◽  
Author(s):  
K.A. Cappell ◽  
X. Song ◽  
Z. Liu ◽  
E. Eynullayeva ◽  
C. Gregory ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Angiomyolipoma ◽  
History Of

Prevalence and natural history of sporadic non-tuberous sclerosis associated renal angiomyolipoma

2013 ◽  
Vol 34 (S 01) ◽  
Author(s):  
A Fittschen ◽  
A Akinli ◽  
W Kratzer ◽  
S Oeztuerk ◽  
MM Haenle ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Renal Angiomyolipoma ◽  
History Of

Natural history of incidental sporadic or tuberous sclerosis complex associated lymphangioleiomyomatosis

2019 ◽  
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

2018 ◽  
Vol 29 (3) ◽  
pp. 295-301 ◽  
Author(s):  
Denise L. Chan ◽  
Tessa Calder ◽  
John A. Lawson ◽  
David Mowat ◽  
Sean E. Kennedy
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Growth Patterns ◽  
Imaging Characteristics ◽  
Life Threatening ◽  
History Of ◽  
Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

scholarly journals The natural history of epilepsy in tuberous sclerosis complex

Epilepsia ◽  
2009 ◽  
Vol 51 (7) ◽  
pp. 1236-1241 ◽  
Author(s):  
Catherine J. Chu-Shore ◽  
Philippe Major ◽  
Susana Camposano ◽  
David Muzykewicz ◽  
Elizabeth A. Thiele
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of ◽  
History Of Epilepsy

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis

2020 ◽  
Vol 168 ◽  
pp. 105993
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

scholarly journals High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yang Zhao ◽  
Hao Guo ◽  
Wenda Wang ◽  
Guoyang Zheng ◽  
Zhan Wang ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Regulatory Network ◽  
High Throughput Screening ◽  
Kidney Tissue ◽  
Cell Types ◽  
The Body ◽  
Differentially Expressed ◽  
Renal Angiomyolipoma

Abstract Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs. Methods Microarray chips and RNA sequencing were used to identify the circRNAs and mRNAs that were differently expressed between the TSC-RAML and normal kidney tissue. A competitive endogenous RNA (ceRNA) regulatory network was constructed to reveal the regulation of miRNAs and mRNAs by the circRNAs. The biological functions of circRNA and mRNA were analyzed by pathway analysis. Microenvironmental cell types were estimated with the MCP-counter package. Results We identified 491 differentially expressed circRNAs (DECs) and 212 differentially expressed genes (DEGs), and 6 DECs were further confirmed by q-PCR. A ceRNA regulatory network which included 6 DECs, 5 miRNAs, and 63 mRNAs was established. Lipid biosynthetic process was significantly up-regulated in TSC-RAML, and the humoral immune response and the leukocyte chemotaxis pathway were found to be down-regulated. Fibroblasts are enriched in TSC-RAML, and the up-regulation of circRNA_000799 and circRNA_025332 may be significantly correlated to the infiltration of the fibroblasts. Conclusion circRNAs may regulate the lipid metabolism of TSC-RAML by regulation of the miRNAs. Fibroblasts are enriched in TSC-RAMLs, and the population of fibroblast may be related to the alteration of circRNAs of TSC-RAML. Lipid metabolism in fibroblasts is a potential treatment target for TSC-RAML.

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