Literature DB >> 32533909

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

Lael M Yonker1,2, Megan H Hawley1,3, Peter P Moschovis1,2, Mengdi Lu1,2, T Bernard Kinane1,2.   

Abstract

Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders.
© 2020 Wiley Periodicals, Inc.

Entities:  

Keywords:  bronchiectasis and primary ciliary dyskinesia; cystic fibrosis (CF); genetics/Genome-Wide Association Studies (GWAS); immunology and immunodeficiency; surfactant biology and pathophysiology

Year:  2020        PMID： 32533909      PMCID： PMC7384240          DOI： 10.1002/ppul.24706

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


  140 in total

Review 1.  Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective.

Authors:  Matthias Griese
Journal:  Pediatrics       Date:  2017-08       Impact factor: 7.124

2.  A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.

Authors:  Lisa R Young; Gail H Deutsch; Ronald E Bokulic; Alan S Brody; Lawrence M Nogee
Journal:  Chest       Date:  2013-10       Impact factor: 9.410

3.  A hemodynamic study of pulmonary hypertension in sickle cell disease.

Authors:  Florence Parent; Dora Bachir; Jocelyn Inamo; François Lionnet; Françoise Driss; Gylna Loko; Anoosha Habibi; Soumiya Bennani; Laurent Savale; Serge Adnot; Bernard Maitre; Azzedine Yaïci; Leila Hajji; Dermot S O'Callaghan; Pierre Clerson; Robert Girot; Frederic Galacteros; Gerald Simonneau
Journal:  N Engl J Med       Date:  2011-07-07       Impact factor: 91.245

Review 4.  Definitions and diagnosis of pulmonary hypertension.

Authors:  Marius M Hoeper; Harm Jan Bogaard; Robin Condliffe; Robert Frantz; Dinesh Khanna; Marcin Kurzyna; David Langleben; Alessandra Manes; Toru Satoh; Fernando Torres; Martin R Wilkins; David B Badesch
Journal:  J Am Coll Cardiol       Date:  2013-12-24       Impact factor: 24.094

Review 5.  Interstitial lung disease in newborns.

Authors:  Lawrence M Nogee
Journal:  Semin Fetal Neonatal Med       Date:  2017-03-28       Impact factor: 3.926

6.  Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.

Authors:  D E Weese-Mayer; J M Silvestri; A D Huffman; S M Smok-Pearsall; M H Kowal; B S Maher; M E Cooper; M L Marazita
Journal:  Am J Med Genet       Date:  2001-05-01

7.  Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Authors:  Michel A A P Willemsen; Guido J Breedveld; Siep Wouda; Barto J Otten; Jan L Yntema; Martin Lammens; Bert B A de Vries
Journal:  Eur J Pediatr       Date:  2004-10-23       Impact factor: 3.183

8.  SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.

Authors:  Tobias Thurm; Eva Kaltenborn; Sunčana Kern; Matthias Griese; Ralf Zarbock
Journal:  Eur J Clin Invest       Date:  2013-05-24       Impact factor: 4.686

9.  Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature.

Authors:  Immacolata Cristina Nettore; Paola Mirra; Alfonso Massimiliano Ferrara; Annarita Sibilio; Valentina Pagliara; Claudia Suemi Kamoi Kay; Paulo Josè Lorenzoni; Lineu Cesar Werneck; Isac Bruck; Lucia Helena Coutinho Dos Santos; Francesco Beguinot; Domenico Salvatore; Paola Ungaro; Gianfranco Fenzi; Rosana Herminia Scola; Paolo Emidio Macchia
Journal:  Thyroid       Date:  2013-06       Impact factor: 6.568

10.  Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series.

Authors:  Vivianne Calheiros Chaves Gomes; Mara Cristina Coelho Silva; José Holanda Maia Filho; Pedro Daltro; Simone Gusmão Ramos; Alan S Brody; Edson Marchiori
Journal:  J Bras Pneumol       Date:  2013 Sep-Oct       Impact factor: 2.624
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.