Genetic Factors Associated With Pulmonary Vascular Disease

Digital Spatial Profiling Identifies Distinct Molecular Signatures of Vascular Lesions in Pulmonary Arterial Hypertension

Rubin M. Tuder, Aneta Gandjeva, Sarah Williams, Sushil Kumar, Vitaly O. Kheyfets, Kyle Matthew Hatton-Jones, Jacqueline R. Starr, Jeong Yun, Jason Hong, Nicholas R. West, Kurt R. StenmarkUniversity of Colorado Anschutz Medical Campus School of Medicine. University of Colorado. Griffith University. Brigham and Women’s Hospital and Harvard Medical School. University of California, Los Angeles.United States […]

Digital Spatial Profiling Identifies Distinct Molecular Signatures of Vascular Lesions in Pulmonary Arterial Hypertension Read More »

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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Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement

Ali Alsuheel Asseri, Ahmad A. Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Saad Alyazidi, Basmah Mohammed Al MufarrihKing Khalid University. Abha Maternity and Children Hospital and Ministry of Health. Saudi Arabia International Medical Case Reports JournalInt Med Case Rep J 2024; 17: 209-214DOI: 10.2147/IMCRJ.S447466 AbstractJeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement Read More »

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure

Dana R. Tower, Ronald W. Day, Tighe Marrone, Rachel Palmquist, Lincoln D. Nadauld, Joshua L. Bonkowsky, Sabrina Malone JenkinsUniversity of Utah School of Medicine and Primary Children’s Hospital. Intermountain Precision Genomics. United States Cold Spring Harbor Molecular Case StudiesCold Spring Harb Mol Case Stud 2024; 9:DOI: 10.1101/mcs.a006292 AbstractAlveolar capillary dysplasia (ACD) is a fatal disorder that

Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failure Read More »

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

Tetsuo Onda, Takuma Akimoto, Itaru Hayasaka, Masahiko Ikeda, Yuta Furuse, Akiko Ando, Yuichi Nakamura, Ryota Honjo, Atsushi Manabe, Itsuko Furuta, Kazutoshi ChoHokkaido University Hospital. Japan Early Human DevelopmentEarly Hum Dev 2021; 155:DOI: 10.1016/j.earlhumdev.2021.105323 AbstractBackground: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing Read More »

Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity

Mona Hamdy, Iman A. Shaheen, Mohamed Khallaf, Yasmeen M. M. SelimCairo University.Egypt Pediatric Blood and CancerPediatr Blood Cancer 2024; 71:DOI: 10.1002/pbc.30959 AbstractBackground: Thrombin is a critical protease modulating thrombosis as well as inflammation, which are one of the main pathophysiological mechanisms in sickle vasculopathy, and its levels were reported to be high in sickle cell disease (SCD).

Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity Read More »

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

Falastine Daas, Punita Gupta, Fuad KiblawiSt. Joseph’s University Medical Center. United States BioMed Central PediatricsBMC Pediatr 2023; 23:DOI: 10.1186/s12887-023-04446-8 AbstractBackground: Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities. With only 150 cases reported worldwide, Cantu syndrome is now gaining wider recognition due to molecular testing and a

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature Read More »

Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KATP Channel Opener Minoxidil: Considerations and Cautions for the Treatment of People With Williams-Beuren Syndrome

Russell H. Knutsen, Leah M. Gober, Elise K. Kronquist, Maninder Kaur, Danielle R. Donahue, Danielle Springer, Zu Xi Yu, Marcus Y. Chen, Yi-Ping Fu, Feri Choobdar, My-Le Nguyen, Sharon Osgood, Joy L. Freeman, Neelam Raja, Mark D. Levin, Beth A. KozelNational Heart, Lung, and Blood Institute; National Institute of Neurological Disorders and Stroke; and National

Elastin Insufficiency Confers Proximal and Distal Pulmonary Vasculopathy in Mice, Partially Remedied by the KATP Channel Opener Minoxidil: Considerations and Cautions for the Treatment of People With Williams-Beuren Syndrome Read More »

Virtual Transcatheter Interventions for Peripheral Pulmonary Artery Stenosis in Williams and Alagille Syndromes

Ingrid S. Lan, R. Thomas Collins, II, Weiguang Yang, Jeffrey A. Feinstein, Michael Ma, Jacqueline Kreutzer, Gregory T. Adamson, Alison L. MarsdenStanford University. University of Pittsburgh.United States Journal of the American Heart AssociationJ Am Heart Assoc 2022; 11:DOI: 10.1161/JAHA.121.023532 AbstractBackground: Despite favorable outcomes of surgical pulmonary artery (PA) reconstruction, isolated proximal stenting of the central PAs

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Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses

L. Mac Felmly, Richard D. Mainwaring, Claudia Algaze, Elisabeth Martin, Michael Ma, Frank L. HanleyStanford University School of Medicine and Lucile Packard Children’s Hospital.United States Journal of Thoracic and Cardiovascular Surgery OpenJTCVS Open 2023; 13: 344-356DOI: 10.1016/j.xjon.2023.01.011 AbstractObjective: Acute lung injury is a known complication of pulmonary artery reconstruction for peripheral pulmonary artery stenosis. Severe cases may

Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses Read More »

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