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Related Concept Videos

Classification of Illness01:17

Classification of Illness

The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe and...
REM Sleep Behavior Disorder01:15

REM Sleep Behavior Disorder

REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
Rational Emotive Behavior Therapy01:24

Rational Emotive Behavior Therapy

Cognitive-behavioral therapies (CBTs) are grounded in the belief that our thoughts profoundly influence our emotions and actions. Advocates of CBT emphasize three core assumptions: first, that cognitions are identifiable and measurable; second, that they are central to psychological functioning; and third, that irrational or maladaptive beliefs can be replaced with rational and adaptive ones. This transformative approach to therapy has paved the way for specific models such as Albert Ellis's...
Anatomical Positions01:11

Anatomical Positions

In anatomy, several standard anatomical positions are used as references for describing the position and orientation of different body parts. These positions help provide a common frame of reference when discussing anatomical structures. The anatomical position is the standard reference point for describing the body's position and orientation. In this position:
The body is upright, facing forward, and standing erect.
The feet are parallel and flat on the floor.
The arms are hanging by the...

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Related Experiment Video

Updated: May 26, 2026

Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome
06:57

Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome

Published on: September 13, 2020

Rett syndrome: from bed to bench.

Shih-Ming Weng1, Mark E S Bailey, Stuart R Cobb

  • 1Institute for Neuroscience and Psychology, University of Glasgow, Glasgow, United Kingdom.

Pediatrics and Neonatology
|December 24, 2011
PubMed
Summary

Rett syndrome (RTT) is a genetic neurological disorder caused by MECP2 gene mutations. Research suggests RTT may be a synaptopathy, offering potential for new therapeutic interventions.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Rett syndrome (RTT) is a neurodevelopmental disorder affecting 1 in 10,000 live female births, characterized by loss of speech and hand stereotypies.
  • Clinical diagnosis involves symptoms like loss of hand skills, autistic behaviors, motor and gait abnormalities, and seizures.
  • RTT is a genetic disease primarily caused by mutations in the MECP2 gene, leading to neurological phenotypes.

Purpose of the Study:

  • To investigate the underlying pathogenesis of Rett syndrome.
  • To explore the potential of Mecp2-mutant mice as a model for RTT research.
  • To determine if RTT can be classified as a synaptopathy and explore therapeutic avenues.

Main Methods:

  • Analysis of clinical reports on RTT patients, including brain volume and neurotransmitter alterations.

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Last Updated: May 26, 2026

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  • Generation and study of Mecp2-mutant mice to model RTT.
  • Examination of neuronal morphology and neurophysiological studies in Mecp2-mutant mice.

    • Main Results:

    • Mecp2 mutations lead to RTT-like phenotypes in mice, mirroring human conditions.
    • Mecp2 mutants exhibit smaller cortical neurons, reduced dendritic complexity, and altered synaptic function.
    • Defects in synaptic plasticity were consistently observed in Mecp2-mutant mice.

    Conclusions:

    • Rett syndrome may be viewed as a synaptopathy, a disease of the synapse.
    • Understanding RTT as a synaptopathy opens possibilities for targeted therapeutic interventions.