Dyskeratosis congenita: Difference between revisions

	Dyskeratosis congenita Microchapters
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Revision as of 18:21, 6 June 2013

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; Cole-Rauschkolb-Toomey syndrome; DKCX

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Medical Therapy | Surgery | Primary prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Invesetigational Therapies Medical Therapy Surgery Primary Prevention Secondary Prevention Cost-Effectiveness of Therapy Future or Investigational Therapies

References

External links

Template:Congenital malformations and deformations of integument Template:X-linked disorders

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 ==Treatment==
-Recent research has used [[Induced pluripotent stem cell|induced pluripotent stem cells]] to study the disease mechanisms in humans, and discovered that the repgrogramming of somatic cells restores telomere elongation in dyskeratosis congenita cells despite the genetic lesions that affect telomerase.  The reprogrammed DC cells were able to overcome a critical limitation in [[Telomerase RNA component|TERC]] (Telomerase RNA component) levels and restored function (telomere maintenance and self-renewal).  Therapeutically, methods aimed at increasing TERC expression could prove beneficial in DC patients. <ref name="pmid20164838">{{cite journal | author = Agarwal ''et al'' | title = : Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients | journal = Nature | volume = 464 | issue = | pages = 292-296 | year = 2010 | month = | pmid = 20164838 | doi = 10.1038/nature08792 }}</ref>
+[[Dyskeratosis congenita medical therapy|Medical Therapy]] | [[Dyskeratosis congenita surgery|Surgery]] | [[Dyskeratosis congenita primary prevention|Primary prevention]] | [[Dyskeratosis congenita secondary prevention|Secondary Prevention]] | [[Dyskeratosis congenita cost-effictiveness of therapy|Cost-Effectiveness of Therapy]] | [[Dyskeratosis congenita future or investigational therapies|Future or Invesetigational Therapies]]
+Medical Therapy
+Surgery
+Primary Prevention
+Secondary Prevention
+Cost-Effectiveness of Therapy
+Future or Investigational Therapies
 == References ==