Genetic Factors Associated With Pulmonary Vascular Disease

Sex differences in the risk of bronchopulmonary dysplasia and pulmonary hypertension: a Bayesian meta-analysis

Elke Van Westering-Kroon, Tamara M. Hundscheid, Karen Van Mechelen, Frantisek Bartos, Steven H. Abman, Eduardo VillamorMosaKids Children’s Hospital, Maastricht University Medical Centre and Maastricht University. University of Amsterdam. University of Colorado Anschutz School of Medicine and Children’s Hospital Colorado. Netherlands and United States Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04145-3 AbstractBackground: Bronchopulmonary dysplasia (BPD) is generally considered to […]

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Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review

Nagehan Bilgeça, Mahmut Gökdemirb, Özgür Balasar, Fayize Maden Bedela, Hüseyin ÇaksenNecmettin Erbakan University. Başkent University. Konya City Hospital.Turkey Molecular SyndromologyMol Syndromol 2025; DOI: 10.1159/000545533 AbstractIntroduction: Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is an exceedingly rare multisystemic disease with X-linked dominant inheritance involving meso-ectodermal tissues. FDH is characterized by specific cutaneous lesions, ectodermal findings, craniofacial

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The Nutmeg Lung Pattern in a Fetus with Hypoplastic Left Heart Syndrome and Turner Syndrome

Katrin Fricke, Katarina Övermo Tydén, Gunnar Bergman, Erik HedströmSkåne University Hospital and Lund University. Karolinska University Hospital and Karolinska Institutet. Sweden Pediatric CardiologyPediatr Cardiol 2025; DOI: 10.1007/s00246-025-03873-x AbstractThe “nutmeg lung pattern” on fetal magnetic resonance imaging (MRI) indicates pulmonary lymphangiectasia. This is associated with adverse outcomes, particularly in fetuses with congenital heart defects and impaired pulmonary

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Single-Cell and Spatial Transcriptomics Identified Fatty Acid-Binding Proteins Controlling Endothelial Glycolytic and Arterial Programming in Pulmonary Hypertension

Bin Liu, Dan Yi, Shuai Li, Karina Ramirez, Xiaomei Xia, Yanhong Cao, Hanqiu Zhao, Ankit Tripathi, Shenfeng Qiu, Mrinalini Kala, Ruslan Rafikov, Haiwei Gu, Vinicio de jesus Perez, Sarah-Eve Lemay, Christopher C. Glembotski, Kenneth S. Knox, Sebastien Bonnet, Vladimir V. Kalinichenko, You-Yang Zhao, Michael B. Fallon, Olivier Boucherat, Zhiyu DaiCollege of Medicine-Phoenix and University of Arizona. Washington University School of Medicine in St. Louis. Guangzhou Medical University. Indiana University College of Medicine. Arizona State University. Stanford University. Laval University. Phoenix Children’s Hospital. Ann & Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine.United

Single-Cell and Spatial Transcriptomics Identified Fatty Acid-Binding Proteins Controlling Endothelial Glycolytic and Arterial Programming in Pulmonary Hypertension Read More »

Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients

Angela C. Onorato, Rachel Gosselin, Bimal P. Chaudhari, Chance Alvarado, Peter White, Vidu Garg, Amee M. BigelowNationwide Children’s Hospital.United States Research SquareRes Sq 2025; DOI: 10.21203/rs.3.rs-6314694/v1 AbstractGenetic testing guidelines for children in cardiac intensive care units (CICUs) are lacking despite a high prevalence of genetic diseases among this population. Advances in next-generation sequencing (NGS) technologies, especially

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USP11 Promotes Endothelial Apoptosis-Resistance in Pulmonary Arterial Hypertension by Deubiquitinating HINT3

Bum-Yong Kang, Jiwoong Choi, Victor Tseng, Yutong Zhao, Jing Zhao, Robert S. Stearman, Wilbur A. Lam, Viranuj Sueblinvong, Benjamin T. Kopp, Michael J. Passineau, Changwon Park, John Lister, Raymond J. Benza, Andrew J. JangEmory University School of Medicine. Atlanta Veterans Healthcare System. University of Kansas School of Medicine and University of Kansas. Ansible Health. Ohio

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Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Saniye Girit, Ebru Senol, Özge Karatas, Ayse Inci YıldırımIstanbul Medeniyet University. Göztepe Training and Research Hospital. University of Health Sciences Medical School Dr. Lutfi Kırdar Kartal Educational and Research Hospital. University of Health Sciences Medical School Kartal Kosuyolu High Speciality Educational and Research Hospital.Turkey Respiratory Medicine Case ReportsRespir Med Case Rep 2020; 30: DOI: 10.1016/j.rmcr.2020.101137 AbstractPulmonary

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Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family

Jinrong Liu, Jigang Yang, Xiaolei Tang, Huimin Li, Yuelin Shen, Weiyue Gu, Shunying ZhaoBeijing Children’s Hospital, National Center for Children’s Health and Capital Medical University. Beijing Friendship Hospital. Beijing Chigene Translational Medicine Research Center.China PediatricsPediatrics 2020; DOI: 10.1542/peds.2019-1970 AbstractHereditary hemorrhagic telangiectasia (HHT) can be clinically diagnosed, but children often lack characteristic features. We report a family

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Pulmonary arteriovenous malformation in a pediatric patient with epistaxis and hypoxemia

Ryan W. England, Clifford R. WeissJohns Hopkins Hospital.United States Radiology Case ReportsRadiol Case Rep 2020; 15: 1759-1763DOI: 10.1016/j.radcr.2020.07.026 AbstractHereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu syndrome) is an inherited vascular disorder with a spectrum of clinical manifestations depending on lesion distribution. Epistaxis, mucocutaneous telangiectasia, and gastrointestinal bleeding are most common. Patients with pulmonary arteriovenous malformations

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[Case report of hereditary hemorrhagic telangiectasia in children and literature review]

Liu Jinrong, Liu Hui, Wang Bei, Zhang Yuhe, Xu Hui, Tang Xiaolei, Li Huimin, Zhao ShunyingBeijing Children’s Hospital Affiliated to Capital Medical University and National Center for Children’s Health. Beijing Renhe Hospital.China Chinese Journal of PediatricsZhonghua Er Ke Za Zhi 2020; 58: 674-678DOI: 10.3760/cma.j.cn112140-20200415-00386 AbstractObjective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. Methods: The clinical data of

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