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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Receptor tyrosine kinases or RTKs are membrane-bound receptors that phosphorylate specific tyrosine on protein substrates. RTKs regulate cellular growth, differentiation, survival, and migration. They contain an extracellular ligand binding domain, a transmembrane domain, and a cytosolic tail with intrinsic kinase activity. Several extracellular signaling molecules activate RTKs in one or more ways and relay the signal downstream. Ligands such as platelet-derived growth factor (PDGF) or...
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Hyperthyroidism II: Pathophysiology

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Smooth Endoplasmic Reticulum

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Transaxillary First Rib Resection for Treatment of the Thoracic Outlet Syndrome
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Published on: September 13, 2020

Rett syndrome.

Prabhat Sitholey1, Vivek Agarwal, Rohit Srivastava

  • 1Professor and Head, Department of Psychiatry, K.G. Medical University, Lucknow 226003.

Indian Journal of Psychiatry
|August 17, 2010
PubMed
Summary
This summary is machine-generated.

Rett syndrome is a rare neurodevelopmental disorder affecting only girls. This case study details a 6.9-year-old girl

Keywords:
Rett syndromeneurodevelopmental disorderpervasive developmental disorder

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Area of Science:

  • Neuroscience
  • Pediatrics
  • Genetics

Background:

  • Rett syndrome is a rare, progressive neurodevelopmental disorder primarily affecting females.
  • Characterized by normal early development followed by regression of acquired skills.

Purpose of the Study:

  • To present a case study of a 6.9-year-old girl diagnosed with Rett syndrome.
  • To highlight the typical clinical presentation and progression of the disorder.

Main Methods:

  • Case report description.
  • Clinical observation and developmental history assessment.

Main Results:

  • The patient exhibited normal development until age 2 years.
  • A subsequent 4-5 month period of regression included loss of hand skills, language, and social interaction.
  • Development of characteristic gait abnormalities and hand stereotypies (mouthing, rubbing) was observed.

Conclusions:

  • This case illustrates the classic developmental trajectory of Rett syndrome.
  • Early recognition of regression is crucial for timely diagnosis and management of Rett syndrome.