Sinonasal angioleiomyoma with adipocyte differentiation: clinicopathologic study of 2 cases and review of the literature [PDF]
Angioleiomyoma (ALM) is a benign tumor of the skin and soft tissues composed of well differentiated smooth muscle cells arranged around and among many vascular channels.
Corsi, A. +7 more
core +1 more source
Clinical case of manifestation of tuberous sclerosis in a child
We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi +4 more
doaj +1 more source
Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor [PDF]
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB).
Carai, Andrea +14 more
core +1 more source
Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]
Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M. +6 more
core +1 more source
Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]
High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo +5 more
core +1 more source
Health care and risk of early death for people with learning disabilities [PDF]
This commentary is on the original article "Causes of mortality in individuals with tuberous sclerosis complex" by Amin et ...
Amin, Heslop, Mencap, Mencap
core +1 more source
A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. [PDF]
BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites.
Hyde, Carly +6 more
core +1 more source
Tuberous sclerosis: A novel approach to diagnosis
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar +3 more
doaj +1 more source
Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali +6 more
doaj +1 more source
MTOR cross-talk in cancer and potential for combination therapy [PDF]
The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions.
Bazzichetto, C. +7 more
core +3 more sources

