Genetic Factors Associated With Pulmonary Vascular Disease

Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome

Hyoungjun Sim, Forrest Wilke, Emily Hamburger, Charlie J. Sang 3rd, Clara HildebrandtUniversity of North Carolina. United States American Journal of Medical Genetics Part C Seminars in GeneticsAm J Med Genet C Semin Med Genet 2025; DOI: 10.1002/ajmg.c.32150 AbstractMyhre syndrome is a rare connective tissue disorder characterized by skeletal, cardiopulmonary, dermatologic, neurocognitive changes, and a predisposition to […]

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Gestational age-based outcomes of neonates with Down syndrome in the neonatal intensive care unit (NICU): review of pediatric health information system (PHIS) database

Emily A. Messick, Stephen A. Hart, Julie Strominger, Sara Conroy, Carl H. Backes, Clifford L. CuaNationwide Children’s Hospital and Ohio State University.United States Journal of PerinatologyJ Perinatol 2025; DOI: 10.1038/s41372-025-02384-0 AbstractObjective: To examine differences in neonatal intensive care unit (NICU) outcomes in neonates with Down syndrome (DS) by gestational age (GA) using a large national database Study

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Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders

Erika K. S. M. Leenders, Vera C. van den Brink, Lotte E. R. Kleimeier, Danielle T. J. Woutersen, Catelijne H. Coppens, Jeroen den Hertog, Willemijn M. Klein, Tuula Rinne, Sabine L. Vrancken, Saskia N. de Wildt, Jos M. T. Draaisma, Joris FuijkschotRadboud University Medical Center and Amalia Children’s Hospital. University Medical Center Utrecht. Leiden University.

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Inpatient outcomes among children with Down syndrome: a Kids’ Inpatient Database study

Po-Yang Tsou, Yu-Hsun Wang, Ignacio E. TapiaBoston Children’s Hospital and Harvard Medical School. Tufts Medical Center. University of Miami Health System.United States BioMedical Central PediatricsBMC Pediatr 2025; 25: DOI: 10.1186/s12887-025-05899-9 AbstractBackground: Children with Down Syndrome (DS) are more likely to have multi-system comorbidities leading to more frequent hospitalizations than the general population. We aim to evaluate whether

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p53 maintains lineage fidelity during lung capillary injury-repair in neonatal hyperoxia

Lisandra Vila Ellis, Jonathan D. Bywaters, Amanda Ceas, Yun Liu, Jennifer M. S. Sucre, Jichao ChenNorthwestern University.  Vanderbilt University Medical Center. Cincinnati Children’s Hospital Medical Center.United States Journal of Clinical Investigation InsightsJCI Insights 2025;DOI: 10.1172/jci.insight.182880 AbstractBronchopulmonary dysplasia (BPD), a prevalent and chronic lung disease affecting premature newborns, results in vascular rarefaction and alveolar simplification. Although the

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Hereditary hemorrhagic telangiectasia in pediatrics: descriptive study in a specialized unit

Magalí Squitín Tasende, Nicolás Guerrero Serravalle, Lucía G. Pérez, Ana Braslavsky, Marcelo SerraHospital Italiano de Buenos Aires and Universidad Hospital Italiano.Argentina Archivos Argentinos de PediatríaArch Argent Pediatr 2025; DOI: 10.5546/aap.2025-10661.eng AbstractIntroduction. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by bleeding telangiectasias and arteriovenous malformations (AVMs) in the brain, lungs, liver, and gastrointestinal

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Pharmacologic Management of Segmental Pulmonary Hypertension in Children After Unifocalization and Pulmonary Artery Reconstruction: Initial Experience

Julian E. Cameron, Doff B. McElhinney, Esther Liu, Rachel K. Hopper, Ritu Asija, Manchula Navaratnam, Frank L. Hanley, Jeffrey A. FeinsteinLucile Salter Packard Children’s Hospital and Stanford University School of Medicine. Children’s Hospital Los Angeles and Keck School of Medicine University of Southern California.United States Pulmonary CirculationPulm Circ 2025; 15: DOI: 10.1002/pul2.70134 AbstractSegmental pulmonary hypertension (PH)

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Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

Ze-yang Chen, Yuan Cao, Jie Yang, Xue-hua He, Li-ping Liu, Yong-hua YuanQingdao University School of Medicine. Hunan Provincial People’s Hospital and First Affiliated Hospital of Hunan Normal University.China Frontiers in PediatricFront Pediatr 2025; DOI: 10.3389/fped.2025.1642390 AbstractBackground: FBN1 gene mutation-associated geleophysic dysplasia (GD) leads to the formation of complex and refractory pulmonary hypertension (PH) through a multifactorial combination

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Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension

Mark W. Dodson, Kristina Allen-Brady, Jeffrey Stevens, Meghan M. Cirulis, Mona Alotaibi, Timothy M. Fernandes, Nick H. Kim, Kim M. Kerr, Demosthenes G. Papamatheakis, David S. Poch, Julianna Desmarais, D. Hunter Best, Nathan D. Hatton, John J. Ryan, C. Gregory Elliott, Lisa A. Cannon-AlbrightIntermountain Medical Center. University of Utah and University of Utah School of

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Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

Abdeladim Babakhouya, Chaymae Yechouti, Chaimae Salhi, Aziza Elouali, Maria RkainUniversity Hospital Center of Mohammed VI and Mohammed Premier University.Morocco CureusCureus 2-25; 17: DOI: 10.7759/cureus.86689 AbstractIntroduction. Trisomy 21 (T21), or Down syndrome, is frequently associated with congenital heart defects (CHDs). This study aims to describe the epidemiological, clinical, and para-clinical profile of CHDs in children with trisomy

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