Class 3. Pulmonary Hypertension Associated with Developmental Diseases of the Lung

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report

Hidenori Kawasaki, Kazuhiko Nakabayashi, Masahiko Ikeda, Tetsuo Onda, Seiichi Tomotaki, Masako Torishima, Akiko Saito, Hirofumi Ohashi, Sachiko Minamiguchi, Kenichiro Hata, Masahiro Hayakawa, Masahiko Kawai, Kazutoshi Cho, Shinji Kosugi, akahiro YamadaKyoto University School of Public Health, Kyoto University Hospital and Kyoto University. National Center for Child Health and Development. Hokkaido University Hospital. Nagoya University Hospital. Saitama […]

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report Read More »

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

Przemyslaw Szafranski, Tomasz Gambin, Gail Deutsch, Salma A. Nassef, Mary Clay Dailey, Debra L. Kearney, Pawel StankiewiczBaylor College of Medicine and Texas Children’s Hospital. Warsaw University of Technology. University of Washington School of Medicine. United States and Poland American Journal of Medical Genetics Part AAm J Med Genet A 2024; DOI: 10.1002/ajmg.a.63936 AbstractT-box transcription factors are

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The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins

G. G. Edel, M. van Kempen, A. Boerema‑de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. RottierErasmus MC-Sophia. Netherlands Journal of Biomedical ScienceJ Biomed Sci 2024; 31: DOI: 10.1186/s12929-024-01088-5 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins Read More »

ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation

Makoto Arioka, Shinji Nakamura, Katsufumi Nishioka, Kota Inoue, Yasuhiro Nakao, Yumi Miyai, Hirosuke Morita, Kosuke Koyano, Toshiki Takenouchi, Saneyuki Yasuda, Yoichi Chiba, Takashi Iwase, Masaki Ueno, Takashi KusakaKagawa University Hospital and Kagawa University. Keio University School of Medicine.Japan European Journal of Medical GeneticsEur J Med Genet 2024; DOI: 10.1016/j.ejmg.2024.104978 AbstractBohring-Opitz syndrome (BOS) is a rare disease

ASXL1-related Bohring-Optiz Syndrome complicated by Persistent Neonatal Pulmonary Hypertension and Abnormal Alveoli Formation Read More »

Alveolar capillary dysplasia complicated by subglottic stenosis

Kataro Nagamoto, Hidehiko Maruyama, Akira Ishuguro, Yushi ItoNational Center for Child Health and Development. Japan British Medical Journal Case ReportsBMJ Case Rep 2024; DOI: 10.1136/bcr-2024-261004 AbstractAlveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is an interstitial lung disease. In ACDMPV, respiratory impairment with severe pulmonary hypertension occurs from the early hours of life. Anomalies in

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Atypical presentation and management of a neonate with alveolar capillary dysplasia: A case report

Niki Dermitzaki, Nikitas Chatzigiannis, Maria Baltogianni, Maria E. Kamperi, Antonios Vlahos, Alexandros Makis, Konstantinos Douros, Vasileios GiaprosUniversity of Ioannina. Athens University Medical School and “Attikon” University Hospital.Greese Pediatric PulmonologyPediatr Pulmonol 2024; DOI: 10.1002/ppul.27241 AbstractAbstract Not Available CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungMedical Therapy. Efficacy or Lack of Efficacy Age Focus: Pediatric

Atypical presentation and management of a neonate with alveolar capillary dysplasia: A case report Read More »

An Interdisciplinary Consensus Approach to Pulmonary Hypertension in Developmental Lung Disorders

Nidhy P. Varghese, Eric D. Austin, Csaba Galambos, Mary P. Mullen, Delphine Yung, R. Paul Guillerman, Sara O. Vargas, Catherine M. Avitabile, Corey A. Chartan, Nahir Cortes-Santiago, Michaela Ibach, Emma O. Jackson, Jill Ann Jarrell, Roberta L. Keller, Usha S. Krishnan, Kalyani R. Patel, Jennifer Pogoriler, Elise C. Whalen, Kathryn Wikenheiser-Brokamp, Natalie M. Villafranco, Steven

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Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia

Guolun Wang, Bingqiang Wen, cMinzhe Guo, Enhong Li, Yufang Zhang, Jeffrey A. Whitsett, Vladimir V. KalinichenkoCincinnati Children’s Research Foundation and University of Cincinnati College of Medicine. University of Arizona, College of Medicine, Phoenix Children’s Research Institute and Phoenix Children’s Hospital.United States Nature CommunicationsNat Commun 2024; 15: DOI: 10.1038/s41467-024-49477-6 Abstract Mutations in the FOXF1 gene, a key

Identification of endothelial and mesenchymal FOXF1 enhancers involved in alveolar capillary dysplasia Read More »

Defining the Typical Course of Persistent Pulmonary Hypertension of the Newborn (PPHN): when to think beyond reversible causes

Stephanie M. Tsoi, Martina Steurer, Hythem Nawaytou, Shannon Cheung, Roberta L. Keller, Jeffrey R. FinemanUniversity of California San Francisco. United States Journal of PediatricsJ Pediatr 2024; DOI: 10.1016/j.jpeds.2024.114131 AbstractObjectives: To describe the typical clinical course of reversible PPHN from perinatal etiologies and compare that with the clinical course of PPHN due to underlying fetal developmental etiologies.Study design: This

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

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 MinamiguchiKyoto University and Kyoto University Hospital. Nagoya University Graduate School of Medicine and Nagoya University Hospital. Hokkaido University Hospital. Saitama Children’s Medical Center.Japan Diagnostic

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

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