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Tuberous Sclerosis Complex: A Review with a Study of Eight Cases
... Tuberous Sclerosis Complex A Review with a Study of Eight Cases ORIGINAL ARTICLE Tuberous Sclerosis Complex A Review with a Study of Eight Cases A S Malik, DTCH* Z A M Hussin, MRCP* S R Shriwas, MS**[.] ... See full document
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Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy
... Abstract: Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 ...clinical study may provide additional support for the use of everolimus for this ... See full document
8
Systematic Review of The Treatment Modalities of Tuberous Sclerosis Complex (TSC) Associated Seizures
... this review include the fact that it did not evaluate the strength of each individual ...systematic review would assess the use of control groups, significant p-values and number of patients being ...a ... See full document
5
Early manifestations of renal disease in patients with tuberous sclerosis complex
... retrospective review of chil- dren and young adults (aged < 25 years of age) who were followed by the Tuberous Sclerosis Complex Center at NYU School of ...This study was approved by ... See full document
5
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
... feature, study sites provided the reason for the imaging study and the date it was ...the study database, sites provided anonymized reports from any MRI neuroimaging performed at the study ... See full document
13
Case Report Radiological appearance of tuberous sclerosis complex: a case report and review of literature
... Abstract: Tuberous sclerosis complex (TSC) is a rare, auto-somal dominant, hereditary neurocutaneous syndrome, in which hamartomas develop in various ...present study reported an unusual case ... See full document
6
Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review
... Data synthesis will be considered separately for each of the four risk factor groups, with an additional section given to discussing any papers that considered the inter- actions of any of the predefined risk factors. We ... See full document
6
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
... The cases included in this study were obtained from the archives of the departments of neuropathology of the Academic Medical Center (University of Amsterdam) and the University Medical Center in Utrecht ... See full document
13
Exploiting Fission Yeast Genetic Interaction Data to Identify Disease-Specific Drug Targets for Tuberous Sclerosis Complex
... familial cases with at least one affected parent), most cases of TSC are sporadic (~65% without an affected parent) (Narayanan, ...sporadic cases of the disease (Jones et ...the study sought ... See full document
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Original Article Population pharmacokinetics of sirolimus in pediatric tuberous sclerosis complex: from Real World Study
... pediatric tuberous sclerosis complex (PTSC) remains ...This study aimed to establish the sirolimus PPK model in Chinese ...World Study, were characterized with nonlinear mixed-effects ... See full document
8
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial
... without tuberous sclerosis. However, half of published cases have history of tuberous sclerosis, some show meta- static potential [20, ...two cases of epithelioid angiomyolipoma ... See full document
9
Parkinsonism associated with multiple sclerosis: A report of eight new cases and a review on the literature.
... population-based study was carried out on Isfahan MS society between April 2003 and July ...Eligible cases were invited to have an interview with a ...identified eight patients (three men and five ... See full document
6
Glucose deprivation in tuberous sclerosis complex-related tumors
... xenografts. Eight-week old SCID mice were inoculated with 3 × 10 6 LEF2 cells subcutaneously and monitored for 14 weeks under 4 treatment conditions: Western diet, Western diet + 2-DG ...the study period ... See full document
15
Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report
... our cases although Vigabatrin was not used for seizures control evidence is accumulating that vigabatrin, an inhibitor of γ -aminobutyric acid transami- nase, is the anticonvulsant medication of choice for ... See full document
7
mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders
... Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems throughout the ...This review will provide an overview of the relationship ... See full document
9
Microcystic Lymphatic Malformation Successfully Treated With Topical Rapamycin
... Microcystic lymphatic malformations (MLM) are low-flow vascular malformations composed of multiple small cysts. MLM usually affect deep- lying structures, which makes their treatment even more difficult and ... See full document
7
Non-Destructive Determination of Magnetic Audio Tape Degradation for Various Tape Chemistries Using Spectroscopy and Chemometrics
... recent review of patient decision-making factors regarding PGD found that patients were highly motivated by the prospect of a healthy child free from the genetic condition; however, patients recognized the ... See full document
91
An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report
... 200 cases reported in the literature. Its association with tuberous sclerosis complex, a form of the neurocutaneous syndrome, is an unusual finding which, to the best of our knowledge, has not ... See full document
5
Cerebral Diffusion Tensor MR Tractography in Tuberous Sclerosis Complex: Correlation with Neurologic Severity and Tract Based Spatial Statistical Analysis
... be a reasonable way to assess the load of brain abnormality in tuberous sclerosis complex. However, in many studies measuring diffusion or DTI parameters of specific regions or white matter tracts, ... See full document
7
TOR gene, for example, mTOR (mammalian
... Hamartomas are benign tumors affecting vari- ous organs, including the gastrointestinal tract, brain, skin, kidneys and the lung. One underly- ing cause of hamartomas is aberrantly high ac- tivity of mTORC1 and its ... See full document
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