Genetic Factors Associated With Pulmonary Vascular Disease

Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy

Karlijn Bouman, Madelief Gubbels, Frederik M. A. van den Heuvel, Jan T. Groothuis, Corrie E. Erasmus, Robin Nijveldt, Floris E. A. Udink ten Cate, Nicol C. VoermansRadboud University Medical Center and Amalia Children’s Hospital. Netherlands Neuromuscular DisordersNeuromuscul Disord 2022; 32: 635-642DOI: 10.1016/j.nmd.2022.06.004 AbstractLAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by […]

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Sex as an Independent Risk Factor for Venous Thromboembolism in Sickle Cell Disease: A Cross-Sectional Study

Andrea H. Roe, Arden McAllister, Corinne Kete, Hilary Whitworth, Courtney A. Schreiber, Farzana A. SayaniUniversity of Pennsylvania Perelman School of Medicine. The Children’s Hospital of Philadelphia.United States Journal of Women’s HealthJ Womens Health 2022; 31: 1467-1471DOI: 10.1089/jwh.2022.0046 AbstractVenous thromboembolism (VTE) affects up to 25% of individuals with sickle cell disease (SCD), but risk factors are not

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Heterozygous Tropomodulin 3 mice have improved lung vascularization after chronic hypoxia

Tsering Stobdan, Pritesh P. Jain, Mingmei Xiong, Vineet Bafna, Jason X.-J. Yuan, Gabriel G. HaddadUniversity of California San Diego. Rady Children’s Hospital.United States Human Molecular GeneticsHum Mol Genet 2022; 31: 1130-1140DOI: 10.1093/hmg/ddab291 AbstractThe molecular mechanisms leading to high-altitude pulmonary hypertension (HAPH) remains poorly understood. We previously analyzed the whole genome sequence of Kyrgyz highland population and

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Long-Term Observational Outcomes after Total Correction of Congenital Heart Disease in Korean Patients with Down Syndrome: A National Cohort Study

Ji Hee Kwak, Seung Won Lee, Hye Ryeong Cha, June Huh, I-Seok Kang, Tae-Gook Jun, Ji-Hyuk Yang, Man Yong Han, Jinyoung SongKangbuk Samsung Hospital and Sungkyunkwan University School of Medicine. Sejong University College of Software Convergence. CHA Bundang Medical Center and CHA University School of Medicine.Republic of Korea ChildrenChildren 2022; 9: DOI: 10.3390/children9091329 AbstractBackground: In the

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Post-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair

Marie Emeline Pierre Louis, Adnan Bhutta, Adrian Holloway, Peter GaskinHouston Healthcare. University of Maryland School of Medicine. United States Cardiology in the YoungCardiol Young 2022; 32: 398-404DOI: 10.1017/S1047951121002201 AbstractComplete atrioventricular canal defect is a CHD associated with intra-cardiac shunting of blood, which can lead to irreversible changes in pulmonary vascular resistance and pulmonary artery hypertension if

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Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response

Lois J. Starr, Mark E. Lindsay, Deborah Perry, Gregory Gheewalla, Paul A. VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E. LinUniversity of Nebraska Medical Center. Harvard Medical School and MassGeneral Hospital for Children. Massachusetts General Hospital. Methodist Hospital. Tufts University School of Medicine. Beth Israel Deaconess Medical Center. Medical University of South

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response Read More »

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension

Xinyu Zhang, Chen Zhang, Qiangqiang, Li, Hong GuBeijing Anzhen Hospital and Capital Medical University.China Pulmonary CirculationPulm Circ 2022; 12: DOI: 10.1002/pul2.12076 AbstractThe relationship between clinical prognosis and transforming growth factor-β (TGF-β) receptor mutations in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) remains unclear. We retrospectively studied the clinical characteristics and outcomes of pediatric patients

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Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension

Zhuoyuan Xu, Hongsheng Zhang, Chen Zhang, Qiangqiang Li, Hong GuBeijing Anzhen Hospital and Capital Medical University, No. 2.China Journal of Clinical MedicineJ Clin Med 2022; 11: DOI: 10.3390/jcm11247331 AbstractBackground: Paediatric-onset idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) is partially linked to genetic factors that may also affect treatment response and outcome. The relation between clinical characteristics and pathogenicity of

Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension Read More »

COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study

Catherine E. Simpson, Megan Griffiths, Jun Yang, Melanie K. Nies, Dhananjay Vaidya, Stephanie Brandal, Lisa J. Martin, Michael W. Pauciulo, Katie A. Lutz, Anna W. Coleman, Eric D. Austin, D. Dunbar Ivy, William C. Nichols, Allen D. Everett, Paul M. Hassoun, Rachel L. DamicoJohns Hopkins University. Cincinnati Children’s Hospital Medical Center and University of Cincinnati

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Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study

Maurike Dorothea de Groot‑van der Mooren, Lukas Augustinus, Johannes Rammeloo. Roos van der Plas, Peter de Winter, Hester van Wieringen, Anne‑Marie van Wermeskerken, Michel Emile Weijerman, Anton Hubertus van KaamAmsterdam UMC Location and University of Amsterdam. Amsterdam Public Health Research Institute. Amsterdam Reproduction & Development Research Institute. St. Antonius Ziekenhuis. Flevoziekenhuis, Hospitaalweg. Spaarne Gasthuis. KU Leuven. Alrijne Hospital. Netherlands European Journal of PediatricsEur J Pediatr 2023; 182: 319-328DOI: 10.1007/s00431-022-04686-3 AbstractThe total uptake of prenatal aneuploidy screening for Down syndrome

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