Literature DB >> 29288214

Familial pneumothorax: towards precision medicine.

Rachel M Scott1, Elizabeth P Henske2, Benjamin Raby3, Philip M Boone4, Rosemary A Rusk5, Stefan J Marciniak1,6.   

Abstract

One in 10 patients suffering from primary spontaneous pneumothoraces has a family history of the disorder. Such familial pneumothoraces can occur in isolation, but can also be the presentation of serious genetic disorders with life-threatening vascular or cancerous complications. As the pneumothorax frequently precedes the more dangerous complications by many years, it provides an opportunity to intervene in a focused manner, permitting the practice of precision medicine. In this review, we will discuss the clinical manifestations and underlying biology of the genetic causes of familial pneumothorax. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Entities:  

Keywords:  pleural disease

Mesh:

Year:  2017        PMID: 29288214     DOI: 10.1136/thoraxjnl-2017-211169

Source DB:  PubMed          Journal:  Thorax        ISSN: 0040-6376            Impact factor:   9.139


  9 in total

Review 1.  The Genetics of Pneumothorax.

Authors:  Philip M Boone; Rachel M Scott; Stefan J Marciniak; Elizabeth P Henske; Benjamin A Raby
Journal:  Am J Respir Crit Care Med       Date:  2019-06-01       Impact factor: 21.405

2.  Utility of thoracic computed tomography to predict need for early surgery and recurrence after first episode of primary spontaneous pneumothorax.

Authors:  Asif Azam; Ahsan Zahid; Qaiser Abdullah; Noman Qayyum; Mostafa Abdelmoteleb; Muhammad Badar Ganaie
Journal:  Clin Med (Lond)       Date:  2021-12-10       Impact factor: 2.659

Review 3.  Recognizing genetic disease: A key aspect of pediatric pulmonary care.

Authors:  Lael M Yonker; Megan H Hawley; Peter P Moschovis; Mengdi Lu; T Bernard Kinane
Journal:  Pediatr Pulmonol       Date:  2020-07

4.  Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem.

Authors:  Marie-Eve Muller; Cécile Daccord; Patrick Taffé; Romain Lazor
Journal:  Front Med (Lausanne)       Date:  2021-04-27

Review 5.  Aetiology of Primary Spontaneous Pneumothorax.

Authors:  Rob Hallifax
Journal:  J Clin Med       Date:  2022-01-19       Impact factor: 4.241

Review 6.  An evidence-based review of primary spontaneous pneumothorax in the adolescent population.

Authors:  Paria M Wilson; Beth Rymeski; Xuefeng Xu; William Hardie
Journal:  J Am Coll Emerg Physicians Open       Date:  2021-06-18

7.  FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome.

Authors:  Haiyan Min; Dehua Ma; Wei Zou; Yongzheng Wu; Yibing Ding; Chengchu Zhu; Anqi Lin; Shiyu Song; Qiao Liang; Baofu Chen; Bin Zhang; Yueming Wan; Minhua Ye; Yanqing Pan; Yanting Wen; Long Yi; Qian Gao
Journal:  Thorax       Date:  2020-03-17       Impact factor: 9.139

8.  Combining clinical, radiological and genetic approaches to pneumothorax management.

Authors:  Hannah L Grimes; Simon Holden; Judith Babar; Sumit Karia; Maria Ta Wetscherek; Allanah Barker; Jurgen Herre; Martin D Knolle; Eamonn R Maher; Stefan John Marciniak
Journal:  Thorax       Date:  2021-06-18       Impact factor: 9.139

9.  A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours.

Authors:  Kenki Matsumoto; Derek Lim; Paul D Pharoah; Eamonn R Maher; Stefan J Marciniak
Journal:  Eur J Hum Genet       Date:  2021-07-15       Impact factor: 4.246

  9 in total

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