[PDF] Top 20 A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
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A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
... if everolimus could have a positive effect on cognitive and behavioral outcome measures, treat- ment would most probably need to be initiated in very young patients with TSC when plasticity and developmental speed ... See full document
11
Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy
... in all developmental domains on the Mullen Scales of Early Learning by the age of 9 months. They also demonstrated more atypical social behaviors as early as 6 months of age in the areas of visual tracking, disengagement ... See full document
8
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options
... domized controlled trial of 177 patients, 42% of patients had reductions in total SEGA volume by ...received everolimus for $3 years, and a reduction of $30% in the volume of the primary SEGA lesion ... See full document
10
The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial
... Background: Tuberous sclerosis complex (TSC) is a genetic disorder affecting about 1 in 6000 people and is characterised by the development of tumours in many organs, including the skin and kidneys, ... See full document
10
Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex
... Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by inactivating mutations in either the TSC1 or TSC2 ...retardation, autism, and renal and pulmonary ... See full document
11
Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex
... Each trial began with the presentation of a fixation stimulus that had a variable inter-trial interval of 800 and 1200 ms to reduce stimulus repetition effects and ensure the child could not predict the ... See full document
10
Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex
... Each trial began with the presentation of a fixation stimulus that had a variable inter-trial interval of 800 and 1200 ms to reduce stimulus repetition effects and ensure the child could not predict the ... See full document
9
Everolimus improved renal function without reducing the size of a kidney angiomyolipoma in a patient with tuberous sclerosis complex: a case report
... prospective randomized trial (EXIST-2) [10, ...national Tuberous Sclerosis Complex Consensus Conference suggested that treatment with an mTOR in- hibitor, including everolimus, ... See full document
6
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
... Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and ...Furthermore, ... See full document
12
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial
... 11]. Everolimus has demonstrated clinical activity across a variety of tumours, leading to its approval for malignancies such as hormone receptor- positive advanced breast cancer, neuroendocrine tu- mours of ... See full document
9
mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders
... mTOR inhibitors may also be a rational candidate for the management of neurodevelopmental/neuropsychiatric dis- abilities associated with TSC, including intellectual disabil- ity and autism. Indeed, a recent ... See full document
9
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial
... tuberous sclerosis. However, half of published cases have history of tuberous sclerosis, some show meta- static potential [20, ...ical trial, reminds us that the risks and benefits of ... See full document
9
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
... FundinG: Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under award ... See full document
13
Survivin Expression in Tuberous Sclerosis Complex Cells
... Tuberous Sclerosis Complex (TSC) is an autosomal dominant syndrome with 95% penetrance, and a birth incidence of 1 in 11,000 (1). It is characterized by the multi-organ development of benign and ... See full document
12
Everolimus – a new approach in the treatment of renal cell carcinoma
... II trial evaluated the efficacy and safety of a combination of bevacizumab 10 mg/kg every 2 weeks and everolimus 10 mg daily in patients with meta- static ... See full document
10
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex
... discontinued everolimus (ie, they were moved to commercial drug or to local transition plans by Decem- ber 31, ...of everolimus and had at least one post-baseline safety ... See full document
9
Possible Prevention of Tuberous Sclerosis Complex Lesions
... produces everolimus, the drug used to treat 1 of the patients reported ...here. Everolimus has recently been registered as the fi rst medical treatment of brain and kidney tumors in tuberous ... See full document
6
Exploiting Fission Yeast Genetic Interaction Data to Identify Disease-Specific Drug Targets for Tuberous Sclerosis Complex
... Recent high-throughput efforts in S. pombe have resulted in the creation of a genetic interaction map (http://interactome-cmp.ucsf.edu/pombe2012/modules/search.html; Ryan et al., 2012). Analysis of this publicly ... See full document
93
A telemedicine meditation intervention for people with multiple sclerosis and their caregivers: study protocol for a randomized controlled trial
... Multiple Sclerosis Quality of Life-54 questionnaire is a multidimensional health-related quality of life meas- ure that combines both generic and MS-specific items in a single instrument ... See full document
6
Clinical management of tuberous sclerosis complex over the lifetime of a patient
... inhibitors everolimus and sirolimus (rapamycin) have been investigated for the treat- ment of SEGA and angiomyolipoma in patients with TSC, as well as for other manifestations, including seizures, LAM, and skin ... See full document
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