Literature DB >> 25899071

A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins.

Yukie Ito1, Takuma Akimoto, Kazutoshi Cho, Masafumi Yamada, Mishie Tanino, Tomoyuki Dobata, Masanori Kitaichi, Satoru Kumaki, Yoshikazu Kinugawa.   

Abstract

UNLABELLED: This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings.
CONCLUSION: We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.

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Year:  2015        PMID： 25899071     DOI： 10.1007/s00431-015-2543-3

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

Review 1.  Alveolar capillary dysplasia.

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Journal:  Am J Respir Crit Care Med       Date:  2011-03-11       Impact factor: 21.405

2.  Registry of the Japanese Society of Lung and Heart-Lung Transplantation: official Japanese lung transplantation report, 2014.

Authors:  Masaaki Sato; Yoshinori Okada; Takahiro Oto; Masato Minami; Takeshi Shiraishi; Takeshi Nagayasu; Ichiro Yoshino; Masayuki Chida; Meinoshin Okumura; Hiroshi Date; Shinichiro Miyoshi; Takashi Kondo
Journal:  Gen Thorac Cardiovasc Surg       Date:  2014-05-20

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Authors:  H I Abdallah; N Karmazin; L A Marks
Journal:  Crit Care Med       Date:  1993-04       Impact factor: 7.598

4.  Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

Authors:  S Boggs; M C Harris; D J Hoffman; R Goel; D McDonald-McGinn; C Langston; E Zackai; E Ruchelli
Journal:  J Pediatr       Date:  1994-01       Impact factor: 4.406

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Authors:  Yoshihiko Kodama; Katsuo Tao; Fumihiko Ishida; Tadashi Kawakami; Keiji Tsuchiya; Kazuo Ishida; Tamiko Takemura; Atsuko Nakazawa; Kentaro Matsuoka; Hitoshi Yoda
Journal:  Pediatr Int       Date:  2012-12       Impact factor: 1.524

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.  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

8.  Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Authors:  Partha Sen; Yaping Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; A Julian Garvin; John Petty; Zeina Kiblawi; Craig Zuppan; Allyn McConkie-Rosell; Marie T McDonald; Stacey L Peterson-Carmichael; Jane T Gaede; Binoy Shivanna; Deborah Schady; Philippe S Friedlich; Stephen R Hays; Irene Valenzuela Palafoll; Ulrike Siebers-Renelt; Axel Bohring; Laura S Finn; Joseph R Siebert; Csaba Galambos; Lananh Nguyen; Melissa Riley; Nicolas Chassaing; Adeline Vigouroux; Gustavo Rocha; Susana Fernandes; Jane Brumbaugh; Kari Roberts; Luk Ho-Ming; Ivan F M Lo; Stephen Lam; Romana Gerychova; Marta Jezova; Iveta Valaskova; Florence Fellmann; Katayoun Afshar; Eric Giannoni; Vincent Muhlethaler; Jinlong Liang; Jacques S Beckmann; Janet Lioy; Hitesh Deshmukh; Lakshmi Srinivasan; Daniel T Swarr; Melissa Sloman; Charles Shaw-Smith; Rosa Laura van Loon; Cecilia Hagman; Yves Sznajer; Catherine Barrea; Christine Galant; Thierry Detaille; Jennifer A Wambach; F Sessions Cole; Aaron Hamvas; Lawrence S Prince; Karin E M Diderich; Alice S Brooks; Robert M Verdijk; Hari Ravindranathan; Ella Sugo; David Mowat; Michael L Baker; Claire Langston; Stephen Welty; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2013-04-12       Impact factor: 4.878

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
  10 in total
  9 in total

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

Authors:  Jonathan J Edwards; Chaya Murali; Jennifer Pogoriler; David B Frank; Stephanie S Handler; Mathew A Deardorff; Rachel K Hopper
Journal:  J Pediatr       Date:  2019-03-08       Impact factor: 4.406

2.  Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Authors:  Itaru Hayasaka; Kazutoshi Cho; Takuma Akimoto; Masahiko Ikeda; Yutaka Uzuki; Masafumi Yamada; Koh Nakata; Itsuko Furuta; Tadashi Ariga; Hisanori Minakami
Journal:  Pediatr Res       Date:  2017-11-01       Impact factor: 3.756

3.  Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.

Authors:  Dimple Goel; Ju Lee Oei; Kei Lui; Meredith Ward; Antonia W Shand; David Mowat; Andrew J Gifford; Christine Loo
Journal:  Clin Case Rep       Date:  2017-03-13

Review 4.  Pulmonary hypertension's variegated landscape: a snapshot.

Authors:  Thomas J Kulik; Eric D Austin
Journal:  Pulm Circ       Date:  2017-03-13       Impact factor: 3.017

5.  A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Authors:  Youngeun Ma; Mi Ae Jang; Hye Soo Yoo; So Yoon Ahn; Se In Sung; Yun Sil Chang; Chang Seok Ki; Won Soon Park
Journal:  Yonsei Med J       Date:  2017-05       Impact factor: 2.759

6.  Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Authors:  Evelien Slot; Gabriëla Edel; Ernest Cutz; Arno van Heijst; Martin Post; Marco Schnater; René Wijnen; Dick Tibboel; Robbert Rottier; Annelies de Klein
Journal:  Pulm Circ       Date:  2018-07-30       Impact factor: 3.017

7.  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

8.  Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.

Authors:  Christopher T Towe; Frances V White; R Mark Grady; Stuart C Sweet; Pirooz Eghtesady; Daniel J Wegner; Partha Sen; Przemyslaw Szafranski; Pawel Stankiewicz; Aaron Hamvas; F Sessions Cole; Jennifer A Wambach
Journal:  J Pediatr       Date:  2017-12-01       Impact factor: 4.406

9.  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
  9 in total

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