BACKGROUND Tuberous sclerosis (TSC) is a monogenic disease resulting from defects of the TSC1 or TSC2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin complex (mTOR). The mTOR pathway is constitutively activated in response to tuberin or hamartin defects. The mTOR pathway is also regulated by a multitude of epigenetic mechanis...

Tuberous sclerosis complex (TSC) is a genetic autosomal dominant disorder characterized by benign tumor-like lesions, called hamartomas, in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These hamartomas cause a diverse set of clinical problems based on their location and often result in epilepsy, learning difficulties, and behavioral problems. TSC is caused by mut...

AIM The present study attempted to test McCullough and Willoughby's hypothesis that self-control mediates the relationships between religiosity and psychosocial outcomes. Specifically, this study examined whether trait self-control (TSC) mediates the relationship of identified-introjected religiosity with positive and negative health-related-feelings (HRF) in healthy Muslims. METHODS Two hund...

BACKGROUND Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder characterised by the development of benign growths and diverse clinical manifestations, varying in severity, age at onset and with high clinical burden. AIMS This longitudinal study aims to describe the broad spectrum of clinical manifestation profiles in a large, representative cohort of TSC patients in the UK in ...

BACKGROUND Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations. METHODS We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. RESULTS Histopathological analysis of a biopsy of a papule was consistent ...

A technique for noninvasively quantifying the concentration of sodium ((23) Na) ions was applied to the study of ischemic stroke. (23) Na-magnetic resonance imaging techniques have shown considerable potential for measuring subtle changes in ischemic tissue, although studies to date have suffered primarily from poor signal/noise ratio. In this study, accurate quantification of tissue sodium con...

A 43-year-old woman with mental retardation, epilepsy, and urinary stone disease had a right renal tumor. Acne-like anthema around the nose and dental pits of the nine teeth were typical signs of tuberous sclerosis (TSC), and the biopsy finding of the facial anthema was consistant with TSC. The pathological diagnosis of laparoscopic nephrectomy was renal cell carcinoma in the hemorrhagic cyst. ...

COMMONLY ASKED QUESTIONS Many parents of a child with TSC, particularly as the child gets older, express the desire for information about what the future might hold. Although there is limited information available as yet, one of the purposes of this "Fact Sheet" is to examine the available research that has followed children with TSC into adulthood to try and answer some of these questions. Man...

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...