Literature DB >> 30853201

Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival.

Jonathan J Edwards1, Chaya Murali2, Jennifer Pogoriler3, David B Frank4, Stephanie S Handler5, Mathew A Deardorff2, Rachel K Hopper6.   

Abstract

Alveolar capillary dysplasia typically presents with neonatal pulmonary hypertension and early mortality. However, there is growing evidence for a subset of disease with atypical late onset and/or prolonged survival. Here, we present the variable clinical, genetic, and pathology findings of 4 such patients.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ACD; FOXF1; MPV; case report

Mesh：

Substances：

Year:  2019        PMID： 30853201      PMCID： PMC6592752          DOI： 10.1016/j.jpeds.2019.01.047

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  25 in total

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Authors:  H E MacMAHON
Journal:  Bull New Engl Med Cent       Date:  1947-02

2.  Alveolar capillary dysplasia: a six-year single center experience.

Authors:  Pablo Eulmesekian; Ernest Cutz; Boriana Parvez; Desmond Bohn; Ian Adatia
Journal:  J Perinat Med       Date:  2005       Impact factor: 1.901

3.  A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.

Authors:  Partha Sen; Romana Gerychova; Petr Janku; Marta Jezova; Iveta Valaskova; Colby Navarro; Iris Silva; Claire Langston; Stephen Welty; John Belmont; Pawel Stankiewicz
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

4.  Diagnostic Pathology of Diffuse Lung Disease in Children.

Authors:  Megan K Dishop
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2010-03       Impact factor: 1.349

5.  Alveolar capillary dysplasia: a logical approach to a fatal disease.

Authors:  Marc P Michalsky; Marjorie J Arca; Freek Groenman; Sue Hammond; Dick Tibboel; Donna A Caniano
Journal:  J Pediatr Surg       Date:  2005-07       Impact factor: 2.545

6.  Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.

Authors:  Przemyslaw Szafranski; Avinash V Dharmadhikari; Erwin Brosens; Priyatansh Gurha; Katarzyna E Kolodziejska; Ou Zhishuo; Piotr Dittwald; Tadeusz Majewski; K Naga Mohan; Bo Chen; Richard E Person; Dick Tibboel; Annelies de Klein; Jason Pinner; Maya Chopra; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Sixto F Guiang; Virginia A Hustead; Jose Jessurun; Russel Hirsch; David P Witte; Isabelle Maystadt; Neil Sebire; Richard Fisher; Claire Langston; Partha Sen; Paweł Stankiewicz
Journal:  Genome Res       Date:  2012-10-03       Impact factor: 9.043

7.  Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn.

Authors:  J Tibballs; C W Chow
Journal:  J Paediatr Child Health       Date:  2002-08       Impact factor: 1.954

8.  Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.

Authors:  Sheikh Ahmed; Veda Ackerman; Philip Faught; Claire Langston
Journal:  Pediatr Crit Care Med       Date:  2008-11       Impact factor: 3.624

9.  Late presentation of alveolar capillary dysplasia in an infant.

Authors:  Venkat Shankar; Anwarul Haque; Joyce Johnson; John Pietsch
Journal:  Pediatr Crit Care Med       Date:  2006-03       Impact factor: 3.624

10.  Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Authors:  Paweł Stankiewicz; Partha Sen; Samarth S Bhatt; Mekayla Storer; Zhilian Xia; Bassem A Bejjani; Zhishuo Ou; Joanna Wiszniewska; Daniel J Driscoll; Melissa K Maisenbacher; Juan Bolivar; Mislen Bauer; Elaine H Zackai; Donna McDonald-McGinn; Małgorzata M J Nowaczyk; Mitzi Murray; Virginia Hustead; Kristin Mascotti; Regina Schultz; Lavinia Hallam; Duncan McRae; Andrew G Nicholson; Robert Newbury; Jane Durham-O'Donnell; Gail Knight; Usha Kini; Tamim H Shaikh; Vicki Martin; Matthew Tyreman; Ingrid Simonic; Lionel Willatt; Joan Paterson; Sarju Mehta; Diana Rajan; Tomas Fitzgerald; Susan Gribble; Elena Prigmore; Ankita Patel; Lisa G Shaffer; Nigel P Carter; Sau Wai Cheung; Claire Langston; Charles Shaw-Smith
Journal:  Am J Hum Genet       Date:  2009-06-04       Impact factor: 11.025
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  8 in total

1.  Atypical Causes of Severe Pulmonary Hypertension in Infancy.

Authors:  Myriam Almeida-Jones; Pooja Nawathe; Dor Markush; Ruchira Garg
Journal:  Glob Pediatr Health       Date:  2021-03-23

2.  A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation.

Authors:  Akiko Kitano; Masato Nakaguro; Seiichi Tomotaki; Shintaro Hanaoka; Masahiko Kawai; Akiko Saito; Masahiro Hayakawa; Yoshiyuki Takahashi; Hidenori Kawasaki; Takahiro Yamada; Masahiko Ikeda; Tetsuo Onda; Kazutoshi Cho; Hironori Haga; Atsuko Nakazawa; Sachiko Minamiguchi
Journal:  Diagn Pathol       Date:  2020-05-09       Impact factor: 2.644

3.  A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.

Authors:  Jennifer A Wambach; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2019-10-15       Impact factor: 21.405

Review 4.  Genetic Testing for Neonatal Respiratory Disease.

Authors:  Lawrence M Nogee; Rita M Ryan
Journal:  Children (Basel)       Date:  2021-03-11

5.  Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.

Authors:  Yan-Bing Lin; Bei Xia; Juan Cao; Zi-Jian Tang
Journal:  J Int Med Res       Date:  2022-09       Impact factor: 1.573

6.  Nanoparticle Delivery of STAT3 Alleviates Pulmonary Hypertension in a Mouse Model of Alveolar Capillary Dysplasia.

Authors:  Fei Sun; Guolun Wang; Arun Pradhan; Kui Xu; Jose Gomez-Arroyo; Yufang Zhang; Gregory T Kalin; Zicheng Deng; Ronald J Vagnozzi; Hua He; Andrew W Dunn; Yuhua Wang; Allen J York; Rashmi S Hegde; Jason C Woods; Tanya V Kalin; Jeffery D Molkentin; Vladimir V Kalinichenko
Journal:  Circulation       Date:  2021-06-11       Impact factor: 39.918

7.  Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.

Authors:  Zuzanna Kozłowska; Zuzanna Owsiańska; Joanna P Wroblewska; Apolonia Kałużna; Andrzej Marszałek; Yogen Singh; Bartłomiej Mroziński; Qian Liu; Justyna A Karolak; Paweł Stankiewicz; Gail Deutsch; Marta Szymankiewicz-Bręborowicz; Tomasz Szczapa
Journal:  BMC Pediatr       Date:  2020-06-29       Impact factor: 2.567

8.  Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.

Authors:  Justyna A Karolak; Tomasz Gambin; Przemyslaw Szafranski; Rebecca L Maywald; Edwina Popek; Jason D Heaney; Paweł Stankiewicz
Journal:  Respir Res       Date:  2021-07-27
  8 in total

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