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An interesting property of a conductor in static equilibrium is that extra charges on the conductor end up on its outer surface, regardless of where they originate. Consider a hollow metallic conductor with a uniform surface charge density. Since the conductor itself is in electrostatic equilibrium, there should not be any electric field inside the conductor. Now, assume a Gaussian surface enclosing the hollow portion. Applying Gauss's law, the inner surface of the hollow conductor will not...
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[The CHARGE syndrome].

Claus Klingenberg1, Wenche Helene Andersen

  • 1Barne- og ungdomsklinikken Universitetssykehuset Nord-Norge 9038 Tromsø og Barneavdelingen Institutt for klinisk medisin Universitetet i Tromsø. claus.klingenberg@unn.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|June 17, 2008
PubMed
Summary
This summary is machine-generated.

CHARGE syndrome, a rare congenital condition, presents with multiple malformations including Coloboma, Heart defects, Atresia choanae, Retarded growth, Genital anomalies, and Ear anomalies. Early diagnosis and multidisciplinary management are crucial for affected individuals.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • CHARGE syndrome is a rare congenital disorder characterized by multiple anomalies.
  • The acronym CHARGE represents key features: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital anomalies, and Ear anomalies/deafness.

Purpose of the Study:

  • To provide an updated overview of CHARGE syndrome.
  • Focus on clinical presentation, genetic factors, and behavioral aspects.
  • Offer recommendations for multidisciplinary management.

Main Methods:

  • Literature review of PubMed-indexed articles.
  • Inclusion of authors' clinical experience with CHARGE syndrome patients.

Main Results:

  • Estimated incidence of CHARGE syndrome is 1 in 10,000 births.
  • CHD7 gene mutations identified in approximately 60% of cases.
  • Key malformations include the 3C-triad (Coloboma, Choanal atresia, semicircular Canal anomalies), cardiovascular, and respiratory defects.
  • Cranial nerve dysfunctions are common, leading to sensory impairments (vision, hearing) and facial palsy.
  • Intellectual impairment varies, with some patients exhibiting distinct behavioral profiles and cognitive issues.

Conclusions:

  • CHARGE syndrome necessitates coordinated, multidisciplinary medical follow-up.
  • Combined sensory loss in CHARGE syndrome patients may benefit from specialized rehabilitation programs.
  • Early identification and management are vital for improving outcomes in individuals with CHARGE syndrome.