Results 51 to 60 of about 358,265 (351)
Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non-mTOR-mediated etiologies. [PDF]
, 2018 The present study was designed to examine the potential cellular antiseizure mechanisms of everolimus, a mechanistic target of rapamycin (mTOR) pathway blocker, in pediatric epilepsy cases. Cortical tissue samples obtained from pediatric patients (n
Barry, Joshua +8 more
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Tuberous Sclerosis Complex [PDF]
New England Journal of Medicine, 2017 A 71-year-old man presented for the evaluation of chronic kidney disease and was noted to have erythematous papules on his face and lesions over his toenails suggestive of tuberous sclerosis.
Michele, Marchini, Elisabetta, Giglio
openaire +4 more sources
The diagnosis to be kept in mind in resistant epilepsy; tuberous sclerosis
Northwestern Medical Journal, 2022 Drug-Resistant Epilepsy is the continuation of seizures despite administering two tolerable antiepileptic drugs at the appropriate dose and time, which are selected according to the type of seizure.
Fatih Kurt, Recep Eröz, Mustafa Doğan
doaj +1 more source
Concomitant diagnosis of bipolar disorder and tuberous sclerosis - a case report
European Psychiatry, 2022 Introduction Tuberous sclerosis is a multisystem genetic disorder. It is associated with significant psychiatric comorbidity mainly autistic disorders, hyperkinetic disorders, depression and anxiety.
M. Santos +3 more
doaj +1 more source
A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
Neurology, 2019 Objective To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). Methods In this 12-month, randomized,
I. Overwater +10 more
semanticscholar +1 more source
Parental Understanding of Tuberous Sclerosis Complex [PDF]
, 2014 Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Donald, Kirsten A. +3 more
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Journal of Clinical Medicine, 2019 Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD.
R. Moavero +23 more
semanticscholar +1 more source
Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report
Case Reports in Women's Health, 2018 Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by ...
Emre Ekmekci +3 more
doaj +1 more source
Sinonasal angioleiomyoma with adipocyte differentiation: clinicopathologic study of 2 cases and review of the literature [PDF]
, 2019 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
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Tuberous sclerosis complex [PDF]
Anais Brasileiros de Dermatologia, 2012 Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner.
Rodrigues, Daniela Araujo +2 more
openaire +4 more sources