Journal ArticleDOI
Strategies for the Neonatal Lung Biopsy: Histology to Genetics.
Jill Lipsett,Megan K. Dishop +1 more
TLDR
In this paper, pathologic patterns in the neonatal lung and correlation with molecular abnormalities are described, where appropriate, in order to guide important medical decisions when the diagnosis is not clear from prior clinical assessment, imaging, or genetic testing.About:
This article is published in Surgical Pathology Clinics.The article was published on 2020-12-01. It has received 1 citations till now. The article focuses on the topics: Genetic testing & Lung biopsy.read more
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Interstitial lung disease in infancy and early childhood: a clinicopathological primer
Florian Laenger,Nicolaus Schwerk,Jens Dingemann,Tobias Welte,Bernd Auber,Stijn E. Verleden,Maximilian Ackermann,Steven J. Mentzer,Matthias Griese,Danny Jonigk +9 more
TL;DR: This review summarises relevant clinical, genetic and histological findings of chILD to provide assistance in clinical assessment and rational diagnostics.
References
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Journal ArticleDOI
The Number of Alveoli in the Terminal Respiratory Unit of Man During Late Intrauterine Life and Childhood
J. L. Emery,A. Mithal +1 more
TL;DR: A statistical survey of the growth of the human terminal respiratory unit during the latter half of intrauterine life and through childhood.
Journal ArticleDOI
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Pawel Stankiewicz,Partha Sen,Samarth Bhatt,Mekayla Storer,Zhilian Xia,Bassem A. Bejjani,Zhishuo Ou,Joanna Wiszniewska,Daniel J. Driscoll,Juan Bolivar,Mislen Bauer,Elaine H. Zackai,Donna M. McDonald-McGinn,Malgorzata M.J. Nowaczyk,Mitzi L. Murray,Tamim H. Shaikh,Vicki Martin,Matthew Tyreman,Ingrid Simonic,Lionel Willatt,Joan Paterson,Sarju G. Mehta,Diana Rajan,Tomas W Fitzgerald,Susan M. Gribble,Elena Prigmore,Ankita Patel,Lisa G. Shaffer,Nigel P. Carter,Sau Wai Cheung,Claire Langston,Charles Shaw-Smith +31 more
TL;DR: Differences in microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes, reveal the phenotypic consequences of gene alterations in cis.
Journal ArticleDOI
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
Takuji Suzuki,Takuro Sakagami,Bruce K. Rubin,Lawrence M. Nogee,Robert E. Wood,Sarah L. Zimmerman,Teresa A. Smolarek,Megan K. Dishop,Susan E. Wert,Jeffrey A. Whitsett,Gregory A. Grabowski,Brenna Carey,Carrie Stevens,Johannes C.M. Van der Loo,Bruce C. Trapnell +14 more
TL;DR: It is established that GM-CSF signaling is critical for surfactant homeostasis in humans and demonstrated that mutations in CSF2RA cause familial PAP.
Journal ArticleDOI
Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia.
TL;DR: This may represent a distinct group of pediatric patients defined by the absence of known lung diseases, clinical signs and symptoms of ILD, and idiopathic neuroendocrine cell hyperplasia of infancy, and morphometric analysis showed that immunoreactivity for bombsin and serotonin was significantly increased over age‐matched controls.
Journal ArticleDOI
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1
Margarita Martinez-Moczygemba,Minh L. Doan,Okan Elidemir,Leland L. Fan,Sau Wai Cheung,Jonathan T. Lei,James P. Moore,Ghamartaj Tavana,Lora Lewis,Yiming Zhu,Donna M. Muzny,Richard A. Gibbs,David P. Huston,David P. Huston +13 more
TL;DR: Using a combination of cellular, molecular, and genomic approaches, this work provides the first evidence that PAP can result from a genetic deficiency of the GM-CSFR α chain, encoded in the X-chromosome pseudoautosomal region 1.