Related Experiment Video

Updated: Feb 7, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
09:41

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

12.0K

Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex

Maurizio Lucchesi1, Enrico Chiappa2, Flavio Giordano3

  • 1Neuro-Oncology Unit, Department of Pediatric Oncology, Meyer Children's University Hospital, Florence, Italy.

Case Reports in Oncology
|July 31, 2018
PubMed

Insights

Sirolimus effectively reduced cardiac rhabdomyomas in infants with tuberous sclerosis. This mTOR inhibitor showed significant tumor reduction, offering a promising treatment for this rare condition.

Area of Science:

  • Cardiology
  • Oncology
  • Genetics

Background:

  • Cardiac rhabdomyomas are a common feature of tuberous sclerosis.
  • Tumor growth can lead to severe outcomes, including fetal or neonatal death in 10% of cases.

Observation:

  • Three infants under 12 months with cardiac rhabdomyomas were treated with sirolimus.
  • Sirolimus is an oral mTOR inhibitor used in this study.

Findings:

  • All patients experienced significant cardiac rhabdomyoma reduction.
  • Two patients achieved complete response, one had >50% debulking.
  • Median time to best response was 1.9 months; side effects were acceptable.

Implications:

  • Sirolimus may promote natural regression of cardiac rhabdomyomas.
  • Further prospective clinical trials are warranted to confirm efficacy and safety.
Abstract

Keywords:
Cardiac rhabdomyomasSirolimusSubpendymal giant cell astrocytomasTuberous sclerosis complexmTOR inhibitors

More Related Videos

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool11:35

The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool

Published on: June 30, 2014

58.8K
A Protocol for the Use of Remotely-Supervised Transcranial Direct Current Stimulation tDCS in Multiple Sclerosis MS08:18

A Protocol for the Use of Remotely-Supervised Transcranial Direct Current Stimulation tDCS in Multiple Sclerosis MS

Published on: December 26, 2015

18.1K

Related Concept Videos

Protein Complex Assembly02:41

Protein Complex Assembly

Proteins can form homomeric complexes with another unit of the same protein or heteromeric complexes with different types.  Most protein complexes self-assemble spontaneously via ordered pathways, while some proteins need assembly factors that guide their proper assembly. Despite the crowded intracellular environment, proteins usually interact with their correct partners and form functional complexes.
Many viruses self-assemble into a fully functional unit using the infected host cell to...
16.8K
Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
2.9K
Drug Dosing: Infants and Children01:29

Drug Dosing: Infants and Children

Pediatric patient dosages diverge from adults due to disparities in body surface area, total body water, and extracellular fluid per kilogram of body weight. The dosing regimen considers the variations in pharmacokinetics and pharmacology across distinct age groups, encompassing preterm newborns, infants, young children, older children, and adolescents. Calculation of pediatric patient doses is predicated on determining body surface area, which exhibits a superior correlation with the child's...
307
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
38.2K
Complex Numbers01:29

Complex Numbers

The real number system cannot represent the square root of a negative number, which restricts solutions for certain equations, such as quadratics with negative discriminants. To address this, the complex number system was developed, introducing the imaginary unit i, where i = √(-1). This extension allows for the representation of all roots, including those involving negative radicands.A complex number is written in the form x + yi, where x and y are real numbers. Here, x represents the...
319
Multiple Regression01:25

Multiple Regression

Multiple regression assesses a linear relationship between one response or dependent variable and two or more independent variables. It has many practical applications.
Farmers can use multiple regression to determine the crop yield based on more than one factor, such as water availability, fertilizer, soil properties, etc. Here, the crop yield is the response or dependent variable as it depends on the other independent variables. The analysis requires the construction of a scatter plot...
4.0K