Genetic Factors Associated With Pulmonary Vascular Disease

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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Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects

Hidekazu Ishida, Jun Maeda, Keiko Uchida, Hiroyuki YamagishiOsaka University Graduate School of Medicine. Tokyo Metropolitan Children’s Medical Center. Keio University of Medicine and Health Center.Japan Journal of Cardiovascular Development and DiseaseJ Cardiovasc Dev Dis 2023; DOI: 10.3390/jcdd10080333 AbstractAlthough pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between

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MicroRNA and lncRNA as the Future of Pulmonary Arterial Hypertension Treatment

Łukasz Wołowiec, Martyna Medlewska, Joanna Osiak, Anna Wołowiec, Elzbieta Grzésk3 , Albert Jásniak, Grzegorz GrzéskNicolaus Copernicus University.Poland International Journal of Molecular SciencesInt J Mol Sci 2023; 24: DOI: 10.3390/ijms24119735 AbstractPulmonary hypertension (PH) is characterized by a progressive increase in pulmonary arterial pressure and pulmonary vascular resistance. In a short time, it leads to right ventricular failure

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Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi HamadaChiba University Hospital.  Showa University School of Medicine. Hamamatsu University School of Medicine.Japan Frontiers in GeneticsFront Genet 2023; 14DOI: 10.3389/fgene.2023.1221745 AbstractMegalencephaly-capillary malformation syndrome (MCAP, OMIM # 602501) is caused by hyperactivity of the thephosphoinositide-3-kinase (PI3K)-Vakt

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Cardiopulmonary Phenotypes and Protein Signatures in Children With Down Syndrome

Emily M. DeBoer, Kristine Wolter-Warmerdam, Robin R. Deterding, Juana Marmolejo, Tom Blumenthal, Joaquin M. Espinosa, Francis Hickey, Brandie D. WagnerUniversity of Colorado School of Medicine. United States Clinical PediatricsClin Pediatr 2023; DOI: 10.1177/00099228231179453 AbstractPulmonary disease, lower respiratory tract infection, and pneumonia are the largest causes of morbidity and mortality in individuals with Down syndrome (DS), but

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Single-cell transcriptomic profiling of microvascular endothelial cell heterogeneity in congenital diaphragmatic hernia

Jason O. Robertson, Peter Bazeley, Serpil C. Erzurum, Kewal AsosinghCleveland Clinic.United States Scientific ReportsSci Rep 2023; 13DOI: 10.1038/s41598-023-37050-y AbstractCongenital diaphragmatic hernia (CDH) is a neonatal anomaly that includes pulmonary hypoplasia and hypertension. We hypothesized that microvascular endothelial cell (EC) heterogeneity is different in CDH lungs and related to lung underdevelopment and remodeling. To test this, we

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Molecular insights using spatial transcriptomics of the distal lung in Congenital Diaphragmatic Hernia

Krithika Lingappan, Oluyinka O. Olutoye II, Abiud Cantu, Manuel Eliezer Cantu Gutierrez, Nahir Cortes-Santiago, J. D. Hammond, Jamie Gilley, Joselyn Rojas Quintero, Hui Li, Francesca Polverino, Jason P. Gleghorn, Sundeep G. KeswaniChildren’s Hospital of Philadelphia. Baylor College of Medicine and Texas Children’s Hospital. University of Delaware. United States American Journal of Physiology Lung Cellular and

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