Genetic Factors Associated With Pulmonary Vascular Disease

Impact of Age and of the Patent Ductus Arteriosus on Pulmonary Hemodynamics in Children with Complete Atrioventricular Septal Defect

Lucas Oliveira Rocha, Nelson Itiro Miyague, Leo Agostinho Solarewicz, Miguel Morita Fernandez-SilvaHospital Infantil Pequeno Príncipe. Universidade Federal do Paraná.Brazil Pediatric CardiologyPediatr Cardiol 2024; DOI: 10.1007/s00246-024-03636-0 AbstractComplete atrioventricular septal defect (CAVSD) can lead to the development of pulmonary obstructive vascular disease due to high pulmonary blood flow and pressures. This study aimed to evaluate the changes in […]

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Genetics and precision genomics approaches to pulmonary hypertension

Eric D. Austin, Micheala A. Aldred, Mona Alotaibi, Stefan Gräf, William C. Nichols, Richard C. Trembath, Wendy K. ChungVanderbilt University Medical Center. Indiana University School of Medicine. University of California San Diego. University of Cambridge. Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine. King’s College London. Boston Children’s Hospital. United States

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Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension

Jason Hong, Lejla Medzikovic, Wasila Sun, Brenda Wong, Grégoire Ruffenach, Christopher J. Rhodes, Adam Brownstein, Lloyd L. Liang, Laila Aryan, Min Li, Arjun Vadgama, Zeyneb Kurt, Tae-Hwi Schwantes-An, Elizabeth A. Mickler, Stefan Gräf, Mélanie Eyries, Katie A. Lutz, Michael W. Pauciulo, Richard C. Trembath, Frédéric Perros, David Montani, Nicholas W. Morrell, Florent Soubrier, Martin R.

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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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Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry

Andreas Glenthøj, Rachael F. Grace, Carl Lander, Eduard J. van Beers, Bertil Glader, Kevin H. M. Kuo, Yan Yan, Bryan McGee, Audra N. Boscoe, Junlong Li, Paola BianchiCopenhagen University Hospital – Rigshospitalet. Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and Harvard Medical School. Thrive with PK Deficiency. University Medical Center Utrecht and Utrecht University. Stanford

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Hybrid treat-and-repair strategy for large patent ductus arteriosus: a proof-of-concept case report

Naoki Tsuboya, Yoshihide Mitani, Hiroyuki Ohashi, Hirofumi Sawada, Masahiro HirayamaMie University Graduate School of Medicine.Japan European Heart Journal Case ReportsEur Heart J Case Rep 2024; DOI: 10.1093/ehjcr/ytae354 AbstractBackground: In cases of atrial septal defect with pulmonary arterial hypertension (PAH), a treat-and-repair strategy that adopts pulmonary vasodilator therapy and subsequent defect closure is postulated to be effective. However,

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Fetal Hydrops Associated With 47,XXX: A Case Report and Literature Review

Shunya Sugai, Kazufumi Haino, Masako Hayashi, Jun Nirei, Kosuke Yoshihara, Koji NishijimaNiigata University Medical and Dental Hospital.Japan CureusCureus 2024; DOI: 10.7759/cureus.62552 AbstractThis report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was

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Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications

Eloisa Sassá Carvalho, JulianoGomes Penha, NairYukie Maeda, Kelly Cristina O. Abud, Maria Francilene S. Souza, Claudia R. P. Castro, Johnny X. dos Santos, Juliana Pereira, Antonio Augusto LopesUniversity of São Paulo School of Medicine. Brazil Scientific ReportsSci Rep 2024; 14: DOI: 10.1038/s41598-024-67097-4 AbstractAlthough Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary

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Trametinib for Refractory Chylous Effusions and Systemic Complications in Children with Noonan Syndrome

Taizo A. Nakano, Alexander W. Rankin, Aparna Annam, Ann M. Kulungowski, Leslie M. McCallen, Lauren R. Hill, Kathryn C. ChatfieldUniversity of Colorado Anschutz Medical Campus and Children’s Hospital Colorado. United States Journal of PediatricsJ Pediatr 2022; 248: 81-88DOI: 10.1016/j.jpeds.2022.05.030 AbstractObjective: To evaluate the effect of the RAS-MAPK pathway inhibitor trametinib on medically refractory chylous effusions in 3

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Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome

Erika K. S. M. Leenders, Lotte E. R. Kleimeier, Lauren C. Weeke, Catelijne H. Coppens, Willemijn M. Klein, Jos M.T. DraaismaRadboud University Medical Center. Amalia Children’s Hospital.Netherlands Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9164 AbstractWe describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly.

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