Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder caused by mutation in
either Tsc1 or Tsc2 genes that leads to the hyper activation of the mTOR pathway, a key …

Background Lymphangioleiomyomatosis is a rare disease caused by unregulated activation
of mammalian target of rapamycin (mTOR) signalling pathway. Sirolimus showed efficacy in …

This prospective observational study focuses on developmental outcomes in the treatment of
tuberous sclerosis complex (TSC) with everolimus (EVO). Fourteen children/adolescents …

Lymphangioleiomyomatosis is a rare slowly progressive lung disease that affects almost
exclusively young women of reproductive age. It occurs sporadically or in association with …

Opinion statement Historically, before the advent of modern imaging and genetic testing,
Tuberous Sclerosis Complex (TSC) was more of a diagnostic challenge and less of a …

Declining kidney function in tuberous sclerosis complex (TSC) is often attributed to large
lesions, including angiomyolipomas (AMLs) and cysts, that encroach on the normal …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects an
individual's reciprocal social interaction and communication ability. Numerous genetic and …

Purpose This study aimed to analyze the therapeutic effect of sirolimus on seizures in
pediatric patients with tuberous sclerosis. Methods We first compared the efficacy of …

Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic
disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States …

Hereditary renal cancers account for approximately 5%-8% of all renal tumors. Over the past
2 decades, a number of syndromes have been identified that predispose patients to early …