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
Cannabidiol (CBD) is one of the most abundant bioactive cannabinoids. Research has demonstrated CBD’s ability to inhibit metabolic enzymes like cytochrome P450 (CYP) and UDP‐glucuronosyltransferase (UGT), potentially leading to drug interactions. However, clinical knowledge gaps remain, particularly with regard to drugs that are more commonly taken by ...
Pablo Salcedo +11 more
wiley +1 more source
Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj +1 more source
mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R +4 more
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FPR2 contributes to the dysfunction of inflammation resolution and neuronal excitability in focal cortical dysplasia type IIb and tuberous sclerosis complex [PDF]
Kaixuan Huang +12 more
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Abstract Objective In epilepsy, daily treatment provides only symptomatic seizure control, leaving a significant unmet need for a treatment that affects the underlying predisposition to seizures. Here, in a first‐of‐its‐kind study, we test the hypothesis that intermittent treatment of seizure clusters with diazepam in the kainic acid post‐status ...
Qian Wu +8 more
wiley +1 more source
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce +4 more
doaj +1 more source
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
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Freedon study: Real‐life outcomes of cenobamate in different lines of treatment
Abstract Objectives Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods This was a multicenter, retrospective, observational study.
Vicente Villanueva +50 more
wiley +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
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