Genetic Factors Associated With Pulmonary Vascular Disease

The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants

Tendaishe T. Mutize, Riaz Y. Seedat, Johannes K. Ploos van Amstel, Johannes J. Mager, Stephen C. Brown, Fekade Gebremariam, Marius J. CoetzeeUniversity of the Free State nd Universitas Academic Hospital. Utrecht University. Shelly Beach Hospital. National Health Laboratory Service.South Africa and Netherlands Molecular Biology ReportsMol Biol Rep 2020; 47: 9967-9972DOI: 10.1007/s11033-020-05985-4 AbstractHereditary haemorrhagic telangiectasia (HHT) is […]

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Deficiency of arginase2 attenuates hyperoxia-induced inflammation and airway hyperreactivity in neonatal mice

Yi Jin, Bernadette Chen, Yusen Liu, Leif D. NelinNationwide Children’s Hospital and Ohio State University.United States American Journal of Physiology Lung Cellular and Molecular PhysiologyAm J Physiol Lung Cell Mol Physiol 2025; DOI: 10.1152/ajplung.00202.2024 AbstractBronchopulmonary dysplasia (BPD) is a common chronic lung disease in pediatrics. Neonatal mice placed in hyperoxia (85% oxygen, HYP) develop lung injury

Deficiency of arginase2 attenuates hyperoxia-induced inflammation and airway hyperreactivity in neonatal mice Read More »

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia

Mordechai Pollak, Dvir Gatt, Michelle Shaw, Sheryl L. Hewko, Anthony Lamanna, Sara Santos, Felix RatjenHospital for Sick Children. Ruth Rappaport Children’s Hospital. Canada and Israel Journal of PediatricsJ Pediatr 2023; DOI: 10.1016/j.jpeds.2023.113665 AbstractObjective: To assess the utility of the Curaçao criteria by age over time in children with hereditary hemorrhagic telangiectasia (HHT).Study design: This was a single-center, retrospective

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Decreased endothelial micro-RNA-30b-5p impairs angiogenesis in fetal lambs with persistent pulmonary hypertension

Sunil K. Sati, Ujala Rana, Chintamani Joshi, Ru-Jeng Teng, Girija G. KonduriMedical College of Wisconsin.United States Pediatric ResearchPediatr Res 2025; DOI: 10.1038/s41390-025-04098-7 AbstractBackground: Impaired angiogenesis contributes to increased pulmonary vascular resistance in persistent pulmonary hypertension of the newborn (PPHN). Notch signaling, critical to lung angiogenesis, is modulated by micro-RNAs (miR). RNA sequencing of pulmonary arterial endothelial cells

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Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report

Arijit Lodha, Majeeda Kamaluddeen, Stephanie Dotchin, Julie Lauzon, Patrick MitchellUniversity of Alberta. Cumming School of Medicine, University of Calgary. Canada International Journal of Surgery Case ReportsInt J Surg Case Rep 2025; 130: DOI: 10.1016/j.ijscr.2025.111341 AbstractIntroduction and importance: A potential relationship between bilateral retinal detachment, chylothorax, and purpura fulminans in a female neonate with a PAK2 gene variant

Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report Read More »

Lymphaticovenous and Lymph Node-to-Vein Anastomosis to Improve Milroy Disease-Related Chylothorax and Lymphedema

Feres Alshomer, Jeongmok Cho, Hyungjoo Noh, Changsik John Pak, Hyunsuk Peter Suh, Joon Pio HongUniversity of Ulsan College of Medicine and Seoul Asan Medical Center.Republic of Korea Plastic and Reconstructive SurgeryPlast Reconstr Surg 2025; 155: 610e-617eDOI: 10.1097/PRS.0000000000011635 AbstractBackground: Primary lymphedema is characterized by lymphatic dysplasia in which one variant is Milroy disease. The association with congenital chylothorax

Lymphaticovenous and Lymph Node-to-Vein Anastomosis to Improve Milroy Disease-Related Chylothorax and Lymphedema Read More »

Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

Elizabeth H. Ketchum, Charles L. Groomes, Alexis N. Ghersi, Brian B. Graziose, Sharen C. Wilson, Sidney E. Zven, Rebecca L. Hicks, William A. Langley, Michael A. Reott Jr,. John P. Schacht, Elizabeth V. Schulz, Jerri CurtisUniformed Services University. Walter Reed National Military Medical Center. MNG Laboratories.United States Clinical Case ReportsClin Case Rep 2024; 12: DOI: 10.1002/ccr3.9082

Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant Read More »

Female Fibroblast Activation Is Estrogen-Mediated in Sex-Specific 3D-Bioprinted Pulmonary Artery Adventitia Models

Mikala C. Mueller, Rachel Blomberg, Alicia E. Tanneberger, Duncan Davis-Hall, Keith B. Neeves, Chelsea M. MaginUniversity of Colorado. United States American Chemical Society Biomaterials Science and EngineeringACS Biomater Sci Eng 2025; DOI: 10.1021/acsbiomaterials.5c00123 AbstractPulmonary arterial hypertension (PAH) is a form of pulmonary vascular disease characterized by scarring of the small blood vessels that results in reduced

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Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype

Charles C. T. Hindmarch, Francois Potus, Ruaa Al-Qazazi, Benjamin P. Ott, William C. Nichols,Michael J. Rauh, Stephen L. ArcherQueen’s University. Universitaire de Cardiologie et de Pneumologie de Québec. Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine.Canada and United States Comprehensive PhysiologyCompr Physiol 2025; 15: DOI: 10.1002/cph4.70011 AbstractEpigenetic changes in gene expression due

Tet Methylcytosine Dioxygenase 2 (TET2) Mutation Drives a Global Hypermethylation Signature in Patients With Pulmonary Arterial Hypertension (PAH): Correlation With Altered Gene Expression Relevant to a Common T Cell Phenotype Read More »

MicroRNA-210 Mediates Hypoxic Pulmonary Hypertension in the Newborn Lamb

Xiang-Qun Hu, Rui Song, Chiranjib Dasgupta, Stephen Twum-Barimah, Taiming Liu, Abu Ahmed, Shawn F. Hanson, Lubo Zhang, Arlin B. BloodLoma Linda University School of Medicine.United States HypertensionHypertension 2025; DOI: 10.1161/HYPERTENSIONAHA.124.23061 AbstractBackground: Pulmonary hypertension of the newborn is a life-threatening disorder characterized by elevated pulmonary vascular resistance due to maladaptation of the pulmonary circulation after birth. The etiology

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