Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease

Mitral Valve Intervention, Pulmonary Hypertension, and Survival in 219 Shone’s Syndrome Patients

Dominique L. Tucker, Sohini Gupta, Amol Pande, Rashed Mahboubi, Miza Salim Hammoud, Munir Ahmad, Hani Najm, Tara Karamlou, Shone’s Syndrome Working GroupCleveland Clinic, Cleveland and Case Western Reserve University School of Medicine. United States Annals of Thoracic SurgeryAnn Thorac Surg 2024; DOI: 10.1016/j.athoracsur.2023.10.023 AbstractBackground: Relationships between pulmonary hypertension (PHTN), mitral valve intervention (MVI), and death among patients […]

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A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity

Giada Moresco, Ornella Rondinone, Alessia Mauri, Rita Gorgoglione, Daniela Maria Grazia Graziani, Michal Dziuback, Monica Rosa Miozzo, Silvia Maria Sirchia, Luca Pietrogrande, Angela Peron, Laura FontanaUniversità degli Studi di Milano/University of Milan. ondazione IRCCS Ca Granda Ospedale Maggiore Policlinico. ASST Santi Paolo e Carlo. Meyer Children’s Hospital IRCCS. Università degli Studi di Firenze.Italy Genes and

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Panorama of artery endothelial cell dysfunction in pulmonary arterial hypertension

Ying-Huizi Shen, Dong Ding, Tian-Yu Lian, Bao-Chen Qui, Yi Yan, Pei-Wen Wang, Wei-Hua Zhang, Zhi-Cheng JingFirst Hospital of Jilin University. Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College. Guangdong Provincial People’s Hospital and Guangdong Academy of Medical Sciences, Southern Medical University. Shanghai Children’s Medical Center, National Children’s Medical Center

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Arterial-Lymphatic-Like Endothelial Cells Appear in Hereditary Hemorrhagic Telangiectasia 2 and Contribute to Vascular Leakage and Arteriovenous Malformations

Yang Yang, Xiuju Wu, Yan Zhao, Daoqin Zhang, Li Zhang, Xinjiang Cai, Jaden Ji, Zheng Jing, Kristina I. Boström, Yucheng YaoDavid Geffen School of Medicine and University of California. Stanford University.United States CirculationCirculation 2024; DOI: 10.1161/CIRCULATIONAHA.124.070925 AbstractBackground: Arteriovenous malformations (AVMs) are characteristic of hereditary hemorrhagic telangiectasia. Loss-of-function mutations in the activin receptor-like kinase 1 (Alk1) are linked

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Survival, morbidity, and quality of life in pulmonary arterial hypertension patients: a systematic review of outcomes reported by population-based observational studies

Stefan Reinders, Eva‑Maria Didden, Rose OngActelion Pharmaceuticals and Johnson and Johnson.Peru and Switzerland Respiratory ResearchRespir Res 2024; 25: DOI: 10.1186/s12931-024-02994-w AbstractBackground: Comprehensive summaries on real-world outcomes in pulmonary arterial hypertension (PAH)-a rare, incurable condition, are lacking. We conducted a systematic literature review to describe current survival, morbidity, and quality of life (QoL) outcomes in adult and pediatric

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Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

Stevin Lu, Lois J. Starr, Rachel A. Taylor, Anji T. YetmanCreighton Medical School. University of Nebraska Medical Center.United States American Journal of Medical Genetics Part AAm J Med Genet A 2024; DOI: 10.1002/ajmg.a.63908 AbstractCongenital pulmonary anomalies in Turner syndrome (TS) are rarely reported. Herein, we describe a female with TS who presented with emphysema in infancy

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Late-Onset Noninfectious Pulmonary Complications after Hematopoietic Stem Cell Transplantation

AndrewC. Harris, Kimia Ganjaei, Camila Vilela, Alexander GeyerMemorial Sloan Kettering Cancer Center. Lenox Hill Hospital and Northwell Health. United States Transplantation and Cellular TherapyTransplant Cell Ther 2024; 30: DOI: 10.1016/j.jtct.2024.05.022 AbstractAbstract Not Available CategoryClass V. Pulmonary Hypertension Associated with Hematological, Systemic, Metabolic and Other DisordersReview Articles Concerning Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease

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Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki AkagawaTokyo Women’s Medical University and Adachi Medical Center. University of Toronto. Tokyo Medical and Dental University. University of Malaya. Hokkaido University Hospital. Eberhard

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The role of immune cells in the pathogenesis of connective tissue diseases-associated pulmonary arterial hypertension

Zhe Li, Juan Ma, Xuejing Wang, Liquan Zhu, Yu Gan, Baoquan DaiWeifang Maternal and Child Health Hospital. Shandong Second Medical University.China Frontiers in ImmunologyFront Immunol 2024; 15: DOI: 10.3389/fimmu.2024.1464762 AbstractConnective tissue diseases-related pulmonary arterial hypertension (CTD-PAH) is a disease characterized by an elevated pulmonary artery pressure that arises as a complication of connective tissue diseases. The

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Utility of factor D and other alternative complement factors as biomarkers in systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH)

Eva Petrow, Changyong Feng, Ashley Frazer-Abel, Roberta Goncalves Marangoni, Katie Lutz, William C. Nichols, V. Michael Holers, Christopher Ritchlin, R. James White III, Benjamin D. KormanUniversity of Rochester Medical Center. University of Colorado School of Medicine. Cincinnati Children’s Medical Center and University of Cincinnati College of Medicine. United States Seminars in Arthritis and RheumatismSemin Arthritis

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