Genetic Factors Associated With Pulmonary Vascular Disease

Clinical characteristics and outcomes of cardiovascular surgery and transcatheter procedures in adults with Down syndrome and congenital heart disease

Takumi Osawa, Tomoko Machino-Ohtsuka, Keitaro Kume, Takahiro Yano, Koshiro Kanaoka, Yoko Sumita, Yusuke Yano, Ruriko Numata, Naoto Kawamatsu, Hideyuki Kato, Yuji Hiramatsu, Tomoko IshizuUniversity of Tsukuba. National Cerebral and Cardiovascular Center. Japan International Journal of Cardiology Congenital Heart DiseaseInt J Cardiol Congenit Heart Dis 2025; 22: DOI: 10.1016/j.ijcchd.2025.100638 AbstractBackground: Advances in medical care have increased the number […]

Clinical characteristics and outcomes of cardiovascular surgery and transcatheter procedures in adults with Down syndrome and congenital heart disease Read More »

Downregulation of KLF2 impairs pulmonary endothelial function and promotes persistent pulmonary hypertension of the newborn

Ningning Chen, Xiaohang Yin, Dong Wang, Dongmei Zhou, Lili Kang, Xiaoying LiChildren’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Cheeloo College of Medicine and Shandong University. China Biochemical PharmacologyBiochem Pharmacol 2025; DOI: 10.1016/j.bcp.2025.117572 AbstractPersistent pulmonary hypertension of the newborn (PPHN) is a severe and progressive disorder with limited therapeutic options. Dysfunction of pulmonary artery endothelial

Downregulation of KLF2 impairs pulmonary endothelial function and promotes persistent pulmonary hypertension of the newborn Read More »

Targeting CircNLRP12 attenuates hypoxia-induced pulmonary arterial smooth muscle cell dysfunction by sponging miR-107-5p and suppressing the ITGA2-mediated FAK/PI3K/AKT pathway

Zongbin Li, Miao Zhao, Shanshan Ma, Shuyu LeiThird People’s Hospital of Xinjiang Uygur Autonomous Region. China European Journal of Medical ResearchEur J Med Res 2025; DOI: 10.1186/s40001-025-03586-0 AbstractBackground: Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) drives lethal pulmonary vascular remodeling. While circular RNAs (circRNAs) are emerging as disease regulators, their functional roles in PAH-CHD remain

Targeting CircNLRP12 attenuates hypoxia-induced pulmonary arterial smooth muscle cell dysfunction by sponging miR-107-5p and suppressing the ITGA2-mediated FAK/PI3K/AKT pathway Read More »

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function

Pilar Blanco-Lobo, Paula Gilabert-Prieto, Beatriz de Felipe, David Moreno-Fuentes, Paloma Guisado Hernández, Ana Ortiz-Ramírez, Anna Mensa-Vilaró, Juan I. Aróstegui, Natalia Palmou, Valle Velasco Gonzalez, Ángela Deyà Martinez, Jan Ramakers, José Ivorra-Cortés, Cristina Roca, Elisa Cordero, Inmaculada Guillen, Nicolás Valerdiz Menéndez, José Manuel Lucena, Mirella Gaboli, Peter Olbrich, Olaf NethIBiS/Hospital Universitario Virgen del Rocío and CSIC/Universidad

Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function Read More »

The relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016

Cheng Yin, Chuanjie Deng, Catherine M. Crespi, Sari Bar, Chandra D. Carey, M. Elizabeth Brickner, Eugenia Chock, Erin C. Schafer, Igor Barjaktarevic, Kosuke Inoue, Johnni Hansen, Julia E. HeckUniversity of North Texas. University of California, Los Angeles. University of Texas Southwestern Medical Center. University of Pittsburgh. Yale School of Medicine. Graduate School of Medicine of

The relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016 Read More »

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review

Yuqian Wang, Xin Peng, Jing Zhu, Ning Zou, Xiaotong Yu, Liu YangSecond Hospital of Dalian Medical University. Dalian Women and Children’s Medical Group. China Frontiers in PediatricsFront Pediatr 2025; 13: DOI: 10.3389/fped.2025.1690056 AbstractObjective: To discuss a unique case of KBG syndrome (KBGS) in neonates that developed congenital chylothorax and to examine how ANKRD11 gene variations may be related to

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review Read More »

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital

Laura K. Andrews, Reid C. Chamberlain, Susan Silva, Remi Hueckel, Desi Newberry, Warwick Ames, Emily M. FunkUniversity of North Carolina Southeastern Hospital. Duke Children’s Hospital and Health Center and Duke University.United States American Association of Nurse Anesthesiology JournalAANA J 2025; 93: 273-282DOI: 10.70278/AANAJ/.0000001030 AbstractWilliams syndrome is a rare congenital disorder affecting connective tissue and the cardiovascular

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital Read More »

Gene and metabolite changes triggered by downregulation of JUNB and ZNF281 in idiopathic pulmonary arterial hypertension: potential mechanisms revealed by multi-omics study

Yanfang Zong, Wei Liu, Jiahe Tian, Cuilan Hou, Tingting Xiao, Sirui Song, Xunwei JiangShanghai Children’s Hospital School of Medicine and Shanghai Jiao Tong University.China Translational PediatricsTransl Pediatr 2025; 14: 2572-2585DOI: 10.21037/tp-2025-370 AbstractBackground: Pulmonary arterial hypertension (PAH) is a severe pulmonary vascular disease causing right heart failure. Idiopathic PAH (IPAH), a type of PAH with unknown causes, has

Gene and metabolite changes triggered by downregulation of JUNB and ZNF281 in idiopathic pulmonary arterial hypertension: potential mechanisms revealed by multi-omics study Read More »

Are NONO Variants Linked to Congenital Heart Disease? Patient Reports and Review

Peiqing He, Sini Zou, Jianxiong Chen, Meiyi Wang, Peng Lin, Jiwu Lou, Zhanying Ma, Zhen Li, Tizhen YanDongguan Maternal and Child Health Care Hospital. China European Journal of Medical GeneticsEur J Med Genet 2025; DOI: 10.1016/j.ejmg.2025.105060 AbstractPathogenic variants in the NONO gene (MIM #300084) are responsible for X-linked syndromic intellectual developmental disorder-34 (MRXS34, MIM #300967) characterized

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De novo variant in RING finger protein 213 causes systemic vasculopathy

Ayako Kashimada, Tomoko Mizuno, Eriko Tanaka, Susumu Hosokawa, Tomohiro Udagawa, Yuichi Hiraoka, Keisuke Uchida, Tomohiro Morio, Kenjiro Kosaki, Masatoshi TakagiInstitute of Science Tokyo. Kyorin University. Keio University.Japan Journal of Clinical Investigation InsightJCI Insight 2025; DOI: 10.1172/jci.insight.190094 AbstractSystemic arterial stenosis, including moyamoya disease (MMD) and middle aortic syndrome (MAS), is a rare condition of unclear etiology. MMD

De novo variant in RING finger protein 213 causes systemic vasculopathy Read More »

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