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

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 […]

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

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

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

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

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

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

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

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 »

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?

Whitney S. Thompson, Ellen M. Bendel-Stenzel, Brendan C. Lanpher, Grace M. Arteaga, Raymond C. Stetson, Stephanie C. MavisMayo Clinic.United States NeonatologyNeonatology 2023; DOI: 10.1159/000529439 AbstractClassic alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare congenital lung disorder presenting in the early neonatal period with refractory hypoxemic respiratory failure and pulmonary hypertension. No curative

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard? Read More »

Case-based discussion: neonates on extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension-management challenges

John A. King, Ajay Desai, Tom Semple, Andrew G. Nicholson, Andrew Bush, Samantha SonnappaRoyal Brompton Hospital. Imperial College London.United Kingdom ThoraxThorax 2023; 78: 107-109DOI: 10.1136/thorax-2021-217857 AbstractWe present two neonates requiring extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension, highlighting the clinical and ethical dilemmas in management of very rare diseases. CategoryClass I. Persistent Pulmonary Hypertension of

Case-based discussion: neonates on extracorporeal membrane oxygenation for undiagnosed recalcitrant pulmonary hypertension-management challenges Read More »

Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

Jeng-Hung Wu, Yu-Jui Wang, Jay-Yu Liau, Ni-Chung Lee, En-Ting WuNational Taiwan University Hospital and National Taiwan University College of Medicine.Taiwan Pediatrics and NeonatologyPediatr Neonatol 2023; DOI: 10.1016/j.pedneo.2022.12.010 AbstractNo Abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication:

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