Genetic Factors Associated With Pulmonary Vascular Disease

[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 […]

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

Genotype-Phenotype Correlations in Children with HHT

Alexandra Kilian, Giuseppe A. Latino, Andrew J. White, Dewi Clark, Murali M. Chakinala, Felix Ratjen, Jamie McDonald, Kevin J. Whitehead, James R. Gossage, Doris Lin, Katharine Henderson, Jeffrey Pollak, Justin P. McWilliams, Helen Kim, Michael T. Lawton, Marie E. Faughnan, the Brain Vascular Malformation Consortium HHT Investigator GroupSt. Michael’s Hospital and Li Ka Shing Knowledge

Genotype-Phenotype Correlations in Children with HHT Read More »

BMPR-II, caspase-3, HIF-1α, and VE-cadherin profile in Down syndrome children with and without congenital heart disease and pulmonary hypertension

Sri L. Widjaja, Masayu L. Anniazi, Bagus Artiko, Annang G. Moelyo, Mylco T. AhmadwirawanUniversitas Sebelas Maret. Indonesia Narra JNarra J 2025; 5: DOI: 10.52225/narra.v5i1.1244 AbstractSeveral cellular markers have been identified as effective in detecting vascular remodeling recently. The reduced activity of bone morphogenetic protein receptor type-II (BMPR-II), commonly observed in Down syndrome, results in insufficient production

BMPR-II, caspase-3, HIF-1α, and VE-cadherin profile in Down syndrome children with and without congenital heart disease and pulmonary hypertension Read More »

[Hereditary hemorrhagic telangiectasia: a report of two cases]

Yan Huang, Chen-Tao Liu, Xiang-Rong Zheng, Bo Dou, Rong HuangXiangya Hospital of Central South University.China Chinese Journal of Contemorary PediatricsZhongguo Dang Dai Er Ke Za Zhi 2020; 22: 1041-1042DOI: 10.7499/j.issn.1008-8830.2004196 AbstractThis article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and

[Hereditary hemorrhagic telangiectasia: a report of two cases] Read More »

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl

Yusuke Hashimoto, Koji Yokoyama, Hideki Kumagai, Yuko Okada, Takanori YamagataJichi Medical University.Japan Clinical Journal of GastroenterologyClin J Gastroenterol 2020; 13: 1096-1101DOI: 10.1007/s12328-020-01238-w AbstractJuvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report

Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl Read More »

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

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

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

Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia Read More »

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

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

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 »

Scroll to Top