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

Twins with alveolar capillary dysplasia with misalignment of pulmonary veins: Strategies for diagnosis and management

Sinead Brady, Usha Krishnan, Anjali Saqi, Diane VargasNew York Presbyterian-Morgan Stanley Children’s Hospital and Columbia University Irving Medical CenterUnited States Journal of Neonatal and Perinatal MedicineJ Neonatal Perinatal Med 2024;DOI: 10.3233/NPM-230085 AbstractWe present a case of dichorionic-diamniotic twin females who developed hypoxemic respiratory failure. They were ultimately diagnosed by lung biopsy with alveolar capillary dysplasia with […]

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Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children

Helio V. Neves da Silva, Jason P. Weinman, Erin K. Englund, Robin R. Deterding, D. Dunbar Ivy, Lorna P. BrowneChildren’s Hospital Colorado and University of Colorado School of Medicine, Anschutz Medical Campus. Highland Hospital. United States Pediatric RadiologyPediatr Radiol 2024;DOI: 10.1007/s00247-023-05848-7 AbstractBackground: Mutations in the T-Box 4 (TBX4) gene are a lesser-known cause of heritable pulmonary arterial

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Lung biopsies in infants and children in critical care situation

Yaül Levy, Lauren Bitton, Chiara Sileo, Jérome Rambaud, Yohan Soreze, Camille Louvrier, Hubert Ducou le Pointe, Harriet Corvol, Erik Hervieux, Sabine Irtan, Pierre-Louis Leger, Blandine Prévost, Aurore Coulomb, L’Herminé, Nadia NathanArmand Trousseau Hospital and Sorbonne University. Centre de recherche Saint Antoine. France Pediatric PulmonologyPediatr Pulmonol 2023;DOI: 10.1002/ppul.26845 AbstractIntroduction: Lung biopsy is considered as the last step investigation

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Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Przemyslaw Szafranski, Silvia Patrizi, Thomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A. Karolak, Gail Deutsch, Drucilla Roberts, Pawel StankiewiczBaylor College of Medicine. Brigham and Women’s Hospital, Newton-Wellesley Hospital and Harvard Medical School. Warsaw University of Technology. Massachusetts General Hospital.  Poznan University of Medical Sciences. University of Washington School of Medicine.United States and Poland Pediatric and

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Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant

Yohan Soreze, Nadia Nathan, Julien Jegard, Erik Hervieux, Pauline Clermidi, Chiara Sileo, Camille Louvrier, Marie Legendre, Aurore Coulomb L’HermineTrousseau Hospital and AP-HP – Sorbonne Université. Sorbonne Université and Armand Trousseau Hospital. Nantes University Hospital. France NeonatologyNeonatology 2023; DOI: 10.1159/000534076 AbstractAcinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription

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A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Katarzyna Bzdega, Mateusz Biela, Gail H. Deutsch, Joseph A. Kitzmiller, Malgorzata Rydzanicz, Rafal Ploski, Jeffrey A. Whistsett, Robert Smigiel, Justyna A. KarolakPoznan University of Medical Sciences. Wroclaw Medical University. University of Washington School of Medicine. Cincinnati Childrens Hospital Medical Center. Medical University of Warsaw. Poland and United States Clinical GeneticsClin Genet 2023; DOI: 10.1111/cge.14428 AbstractCongenital alveolar

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Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia

Csaba Galambos, J. Wells Logan, Pawel Stankiewicz, Przemyslaw Szafranski, Carol Zalles, Jose Gonzales, Sfurti Nath, Shalinkumar Patel, Steven H. AbmanUniversity of Colorado Anschutz School of Medicine. Wolfson Children’s Hospital and the University of Florida College of Medicine. Baylor College of Medicine.United States Pediatric PulmonologyPediatr Pulmonol 2023; DOI: 10.1002/ppul.26571 AbstractWe report the case of a preterm infant

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Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G. Edel, Janna A. Hol, Evelien Slot, Jan H. von der Thüsen, Yolande van Bever, Rogier C.J. de Jonge, Marianne van Tienhoven, Hennie T. Bruggenwirth, Annelies de Klein, Robbert J. RottierErasmus MC Sophia Children’s Hospital. Netherlands Laboratory InvestigationLab Invest 2023; DOI: 10.1016/j.labinv.2023.100233 AbstractAlveolar capillary dysplasia with misalignment of pulmonary Veins (ACDMPV) is a lethal congenital

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Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report

Kantisa Sirianansopa, Pharsai Prasertsan, Kanokpan Ruangnapa, Kantara Saelim, Phawin Kor-anantakulFaculty of Medicine Prince of Songkla University. Thailand Respirology Case ReportsRespirol Case Rep 2023; 11: DOI: 10.1002/rcr2.1089 AbstractAlveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital diffuse lung disorder, with a fatal course during the neonatal period. We describe an 18-month-old boy

Unusual presentation of alveolar capillary dysplasia with misalignment of the pulmonary veins in a child with respiratory syncytial virus pneumonia: A case report Read More »

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins

Fatemeh Kohram, Zicheng Deng, Yufang Zhang, Abid Al Reza, Enhong Li, Olena A Kolesnichenko, Samriddhi Shukla, Vladimir Ustiyan, Jose Gomez-Arroyo, Anusha Acharya, Donglu Shi, Vladimir V. Kalinichenko, Alan P. KennyUniversity of Cincinnati and Cincinnati Children’s Hospital Medical Center and University of Cincinnati.United States BiologicsBiologics 2023; 17: 43-55DOI: 10.2147/BTT.S400006 AbstractIntroduction: Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins (ACDMPV)

Demonstration of Safety in Wild Type Mice of npFOXF1, a Novel Nanoparticle-Based Gene Therapy for Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Read More »

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