Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark +2 more
core +3 more sources
Abstract Understanding the mechanisms underlying post‐traumatic epilepsy (PTE) following traumatic brain injury (TBI), and developing strategies to prevent or modify its progression, has been the focus of large collaborative efforts within the epilepsy and TBI research communities for over a decade.
Elisa R. Zanier +82 more
wiley +1 more source
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
core +1 more source
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. [PDF]
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC.
Beaure d'Augères, Guillaume +28 more
core +4 more sources
Abstract Advances in stereo‐electroencephalography–guided radiofrequency thermocoagulation (SEEG‐guided RFTC) have led to the development of cross‐electrode RFTC, which has been shown to result in significantly larger lesions and higher seizure‐freedom rates compared to standard RFTC methods.
Bethany Campbell +10 more
wiley +1 more source
VATS therapy of chylothorax caused by leiomyomatosis complicated with tuberous sclerosis complex
Lymphangioleiomyomatosis with tuberous sclerosis complex is a rare disease. One of the most frequent complications of lymphangioleiomyomatosis is pleural effusion (chylothorax) wich can be treated with the use of VATS.
Adrienn Csiszkó +5 more
doaj +1 more source
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. [PDF]
Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA).
Agranovich, Oleg +49 more
core +2 more sources
WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara +7 more
wiley +1 more source
Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj
A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. [PDF]
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to
Auvin, S. +12 more
core +2 more sources

