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

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

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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

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

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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

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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

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ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report

Chunxia Lei, Chunhui Wan, Caixia LiuWuhan Children’s Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College and Huazhong University of Science and Technology. Taihe Hospital and Hubei University of Medicine.China MedicineMedicine 2024; 103: DOI: 10.1097/MD.0000000000037622 AbstractIntroduction: Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge

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