Genetic Factors Associated With Pulmonary Vascular Disease

Yield of genetic evaluation in non-syndromic pediatric moyamoya patients

Anna L. Slingerland, Dylan S. Keusch, Laura L. Lehman, Edward R. Smith, Siddharth Srivastava, Alfred P. SeeBoston Children’s Hospital and Harvard Medical School.United States Child’s Nervous SystemChilds Nerv Syst 2023; DOI: 10.1007/s00381-023-06167-w AbstractPurpose: Few guidelines exist for genetic testing of patients with moyamoya arteriopathy. This study aims to characterize the yield of genetic testing of non-syndromic moyamoya […]

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Pulmonary hypertension secondary to partial pulmonary venous obstruction in a child with Cantu syndrome

Daisuke Kobayashi, Amanda L. Cook, Derek A. WilliamsWake Forest University School of Medicine.United States Pediatric PulmonologyPediatr Pulmonol 2010; 5: 727-729DOI: 10.1002/ppul.21215 AbstractWe report on an African-American male with Cantu syndrome who required a pericardial window for a significant pericardial effusion in infancy and was subsequently found to have partial pulmonary venous obstruction (PVO) leading to pulmonary

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Identification of the shared gene signatures between pulmonary fibrosis and pulmonary hypertension using bioinformatics analysis

Hui Zhao, Lan Wang, Yi Yan, Qin-Hua Zhao, Jing He, Rong Jiang, Ci-Jun Luo, Hong-Ling Qiu, Yu-Qing Miao, Su-Gang Gong, Ping Yuan, Wen-Hui WuShanghai Pulmonary Hospital and Tongji University. University of Shanghai for Science and Technology. Shanghai Children’s Medical Center and Shanghai Jiao Tong University.China Frontiers in ImmunologyFront Immunol 2023; DOI: 10.3389/fimmu.2023.1197752 AbstractPulmonary fibrosis (PF) and

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Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow

Akari Takai, Masaaki Yamagishi, Kazuyuki Iked, Atsuya Sugimoto, Eisuke Ichise, Yoshinobu Maeda, Satoshi Teramukai, Tatsuji Hasegawa, Shinichiro Oda, Tomoko IeharaKyoto Prefectural University of Medicine. Hananoki Medical Welfare Center. Japanese Red Cross Kyoto Daiichi Hospital. National Hospital Organization Maizuru Medical Center. Japan American Journal of Medical Genetics AAm J Med Genet A 2023; DOI: 10.1002/ajmg.a.63401 AbstractCongenital heart

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Pulmonary vein stenosis: prematurity and associated conditions

David M. Drossner, Dennis W. Kim, Kevin O. Maher, William T. MahleEmory University School of Medicine.United States PediatricsPediatrics 2008; 122: e656-e661DOI: 10.1542/peds.2008-0075 AbstractObjective: Pulmonary vein stenosis is a rare, although often lethal, anomaly. Risk factors for the diagnosis of pulmonary vein stenosis are poorly characterized. In this study we sought to identify factors associated with pulmonary vein

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Outcomes of atrioventricular septal defects with and without Down syndrome: analysis of the national inpatient database

Safwat Aly, Ibrahim Qattea, Hasan Othman, Hoang H. Nguyen, Hany Z. AlyBoston Children’s Hospital and Harvard Medical School. Cleveland Clinic Children’s. University of Texas Southwestern Medical Center.United States Cardiology in the YoungCardiol Young 2023; DOI: 10.1017/S1047951123003116 AbstractBackground: Controversial data exist about the impact of Down syndrome on outcomes after surgical repair of atrioventricular septal defect.Aims: (A) assess trends

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Incidence of Pulmonary and Respiratory Conditions in Gaucher Disease from 2000 to 2020: A Multi-institutional Cohort Study

Yu-Nan Huang, Jing-Yang Huang, Wen-Ling Liao, Shang-Lun Chiang, Kai-Wen Liu, Da-Tian Bau, Chung-Hsing Wang, Pen-Hua SuChung Shan Medical University Hospital. China Medical University Hospital. I-Shou University. Children’s Hospital of China Medical University. Taiwan In VivoIn Vivo 2023; 37: 2276-2283DOI: 10.21873/invivo.13330 AbstractBackground/aim: Gaucher disease (GD) is a rare lysosomal storage disorder that can involve the lungs and pulmonary

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Sex-Specific Differences in Congenital Diaphragmatic Hernia Mortality

Shelby R. Sferra, Matthew Guo, Andres J. Gonzalez-Salazar, Annalise B. Penikis, Abigail J. Engwall-Gill, Ashley Ebanks, Matthew T. Harting, Joseph M. Collaco, Shaun M. Kunisaki, CDH Study GroupJohns Hopkins University School of Medicine. University of Texas McGovern Medical School and Children’s Memorial Hermann Hospital. United States Journal of PediatricsJ Pediatr 2023; 259DOI: 10.1016/j.jpeds.2023.113481 AbstractObjective: To compare disease

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Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review

Xiao‑xian Deng, Bo‑wen Jin, Shan‑shan Li, Hong‑mei Zhou, Qun‑shan Shen, Yun‑yan LiWuhan Asia Heart Hospital. China BioMed Central PediatricsBMC Pediatr 2023; 23: DOI: 10.1186/s12887-023-04273-x AbstractBackground: Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation

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Pediatric pulmonary arterial hypertension due to a novel homozygous GDF2 missense variant affecting BMP9 processing and activity

L. Chomette, E. Hupkens, M. Romitti, L. Dewachter, J. L.Vachiéry, S. Bailly, S. Costagliola, G. Smits, E. Tillet, Antoine BondueHôpital Erasme, Hôpital Universitaire de Bruxelles and Université Libre de Bruxelles. Laboratory BioSanté and Université Grenoble Alpes.Belgium and France American Journal of Medical GeneticsAm J Med Genet 2023; 191(8):2064-2073DOI: 10.1002/ajmg.a.63236 AbstractPulmonary arterial hypertension (PAH) is a rare

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