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About 4,135 results

ALLMedicine™ Tuberous Sclerosis Center

Research & Reviews  1,518 results

Pilot study evaluating everolimus molecular mechanisms in tuberous sclerosis complex an...
https://doi.org/10.1371/journal.pone.0268597
PloS One; Leitner DF, Kanshin E et. al.

May 20th, 2022 - Tuberous sclerosis complex (TSC) and some focal cortical dysplasias (FCDs) are associated with dysfunctional mTOR signaling, resulting in increased cell growth and ribosomal S6 protein phosphorylation (phospho-S6). mTOR inhibitors can reduce TSC t...

A 7-year-old with red bumps on her nose
https://www.mdedge.com/pediatrics/article/254610/dermatology/7-year-old-red-bumps-her-nose
Elana Kleinman, Lawrence F. Eichenfield, MD

May 13th, 2022 - The finding of individual, 1- to 4-mm firm, red papules depicted in the image are consistent with facial angiofibromas, which are most commonly seen in pediatric patients as a manifestation of tuberous sclerosis (TSC). Angiofibromas, previously ca.

The role of neurosurgery in the management of tuberous sclerosis complex-associated epi...
https://doi.org/10.3171/2022.2.FOCUS21789
Neurosurgical Focus; Nie JZ, Karras CL et. al.

May 11th, 2022 - Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem neurocutaneous disorder associated with cortical tubers, brain lesions seen in nearly all patients with TSC, which are frequently epileptogenic. Seizures are often the earliest...

Congenital cardiac masses: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026616
Journal of Medical Case Reports; Alsabri M, Gonzalez A et. al.

Apr 23rd, 2022 - Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital ...

The association of neurodevelopmental abnormalities, congenital heart and renal defects...
https://doi.org/10.1186/s12916-022-02325-0
BMC Medicine; Robinson J, Uzun O et. al.

Apr 21st, 2022 - Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and n...

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Guidelines  2 results

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coor...
https://doi.org/10.1055/s-0036-1572411
Neuropediatrics Tibussek D, Klepper J et. al.

Feb 26th, 2016 - Objectives This report aims to define treatment goals, to summarize the evidence level (EL) of different treatment options for infantile spasms (IS), both in terms of efficacy and adverse effect, and to give recommendations for the management of I...

The ERS guidelines for LAM: trying a rationale approach to a rare disease.
https://doi.org/10.1016/j.rmed.2010.03.015
Respiratory Medicine; Johnson SR

May 11th, 2010 - Lymphangioleiomyomatosis (LAM) is a rare lung disease which predominantly affects young women. LAM is associated with much morbidity and can lead to respiratory failure and death unless lung transplantation is performed. There are no randomised tr...

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Drugs  9 results see all →

Clinicaltrials.gov  28 results

Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
https://clinicaltrials.gov/ct2/show/NCT02654340

Mar 24th, 2022 - Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder characterized by the growth of numerous tumors in different body parts related to dysregulation of the mechanistic target of rapamycin (mTOR) pathway. The overall incidence...

Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
https://clinicaltrials.gov/ct2/show/NCT04595513

Jan 12th, 2022 - Tuberous Sclerosis Complex (TSC) is caused by genetic mutation in TSC1 or TSC2, resulting in dysregulation of the mechanistic target of rapamycin (mTOR) signaling pathway. Age at time of seizure onset in TSC infants has been linked to long-term ne...

Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in Infants
https://clinicaltrials.gov/ct2/show/NCT04987463

Aug 3rd, 2021 - This is a two-arm, randomized, double-blind and double-dummy, placebo controlled study to evaluate the efficacy, tolerability, and safety of vigabatrin versus rapamycin as a preventive treatment in infants with TSC. The study consists of 3 phases ...

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
https://clinicaltrials.gov/ct2/show/NCT02461459

Aug 2nd, 2021 - Tuberous Sclerosis Complex (TSC) is a multi-system disease that usually exhibits a high variability in clinical findings both among and within families. About 50% of individuals with TSC develop intellectual disability (ID) and/or autism spectrum ...

Sleep Patterns in Patients Affected by Lymphangioleiomiomatosis
https://clinicaltrials.gov/ct2/show/NCT04577937

Mar 18th, 2021 - Lymphangioleiomiomatosis (LAM) is a rare progressive disease that affects primarily lungs with a cystic radiologic pattern and may be associated with angiomiolipomas in the kidneys or in other sites and an increased frequency of meningioma. Patien...

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News  92 results

A 7-year-old with red bumps on her nose
https://www.mdedge.com/pediatrics/article/254610/dermatology/7-year-old-red-bumps-her-nose
Elana Kleinman, Lawrence F. Eichenfield, MD

May 13th, 2022 - The finding of individual, 1- to 4-mm firm, red papules depicted in the image are consistent with facial angiofibromas, which are most commonly seen in pediatric patients as a manifestation of tuberous sclerosis (TSC). Angiofibromas, previously ca.

Skill Checkup: A 20-Year-Old Woman With a History of Tuberous Sclerosis Is Experiencing Increasingly Frequent Seizures
https://www.medscape.com/viewarticle/965040

Feb 2nd, 2022 - The Skill Checkup series provides a quick, case-style interactive quiz highlighting key guidelines- and evidence-based information to inform clinical practice. A 20-year-old woman has a history of tuberous sclerosis, symptomatic generalized epilep...

Exceptional Responder Provides Treatment Clues in Bladder Cancer
https://www.onclive.com/view/exceptional-responder-provides-treatment-clues-in-bladder-cancer

Oct 6th, 2021 - Nikhil Wagle, MD An exceptional responder with advanced urothelial carcinoma experienced a complete radiologic response lasting 13.8 months following treatment with the combination of everolimus (Afinitor) and pazopanib (Votrient), according to r...

Data Supporting Cannabis for Childhood Epilepsy Remain Scarce
https://www.medscape.com/viewarticle/958616

Sep 13th, 2021 - Cannabis-based medicinal products (CBMPs) have shown early promise for refractory childhood epilepsy, but positive media attention, as well as pressure from politicians and marijuana advocacy groups, should not supplant clinical trials and accepta...

An Update on New Epilepsy Medications
https://www.medscape.com/viewarticle/949554

Apr 20th, 2021 - At the ongoing Academy of Neurology 2021 Annual Meeting, being held virtually on April 17-22, Joseph Sirven, MD, professor of neurology at the Mayo Clinic in Jacksonville, Florida, led an epilepsy course updating viewers on new epilepsy medication...

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Patient Education  5 results see all →