Literature DB >> 15176697

Pulmonary infiltrates in Costello Syndrome.

N Waldburg1, F Buehling, M Evert, O Burkhardt, T Welte.   

Abstract

This paper reports on a patient with diffuse pulmonary infiltrates directly related to Costello Syndrome. This congenital disorder is characterised by multiple congenital abnormalities, such as psychomotor retardation, short stature, redundant skin, papillomata, curly hair, relative macroencephaly, distinctive face and various defects of internal organs. This study is the first to document the histopathological findings in the lungs. Most conspicuous was the depositing of abnormal collagen and elastic fibres and the development of endogenous lipid pneumonia.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15176697     DOI: 10.1183/09031936.04.00073704

Source DB:  PubMed          Journal:  Eur Respir J        ISSN: 0903-1936            Impact factor:   16.671


  4 in total

1.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

2.  Retinoblastoma protein modulates the inverse relationship between cellular proliferation and elastogenesis.

Authors:  Sanjana Sen; Severa Bunda; Junyan Shi; Andrew Wang; Thomas F Mitts; Aleksander Hinek
Journal:  J Biol Chem       Date:  2011-08-31       Impact factor: 5.157

3.  Respiratory system involvement in Costello syndrome.

Authors:  Natalia Gomez-Ospina; Christin Kuo; Amitha Lakshmi Ananth; Angela Myers; Marie-Luise Brennan; David A Stevenson; Jonathan A Bernstein; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2016-04-22       Impact factor: 2.802

4.  Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome.

Authors:  Gemma E Rooney; Alice F Goodwin; Philippe Depeille; Amnon Sharir; Claude M Schofield; Erika Yeh; Jeroen P Roose; Ophir D Klein; Katherine A Rauen; Lauren A Weiss; Erik M Ullian
Journal:  J Neurosci       Date:  2016-01-06       Impact factor: 6.167

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.