About 4,125 results

ALLMedicine™ Tuberous Sclerosis Center

Research & Reviews  1,519 results

The role of neurosurgery in the management of tuberous sclerosis complex-associated epi...
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.
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...
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...

Kidney Transplantation in a Patient With Tuberous Sclerosis Complex: A Case Report.
Transplantation Proceedings; Kluz A, Gozdowska J et. al.

Apr 18th, 2022 - Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease caused by mutations of either of 2 genes, TSC1 and TSC2. Renal manifestations include angiomyolipomas (AMLs), multiple cysts, and renal cell carcinoma. AMLs increase ble...

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Guidelines  2 results

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coor...
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.
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  25 results

Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)

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...

Everolimus for Children With Recurrent or Progressive Ependymoma

Feb 2nd, 2022 - Ependymoma is the third most common central nervous system neoplasm in children, accounting for approximately 10% of childhood brain tumors. Although the prognosis for children with newly-diagnosed completely resected ependymomas is often good, ch...

Safety, Pharmacokinetics, and Exploratory Efficacy Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) Compared With Standard of Care Antiseizure Medication, in Participants Age 1 Month...

Jan 13th, 2022 - The study will be comprised of 2 parts: Part A will evaluate the safety and pharmacokinetics of cannabidiol oral solution (OS) compared with SOC ASM for a period of 17 weeks in participants with tuberous sclerosis complex (TSC). Participants will ...

Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

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

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  90 results

Skill Checkup: A 20-Year-Old Woman With a History of Tuberous Sclerosis Is Experiencing Increasingly Frequent Seizures

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

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

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

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...

Cannabidiol Cleared for Tuberous Sclerosis Complex in Europe

Apr 20th, 2021 - The European Commission (EC) has approved cannabidiol (Epidyolex) oral solution as adjunctive treatment of seizures associated with tuberous sclerosis complex (TSC) in patients aged 2 years and older. It's the third indication for the drug in Euro...

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Patient Education  5 results see all →