Genetic Factors Associated With Pulmonary Vascular Disease

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang WangPeking University First Hospital.China Frontiers in PediatricsFront Pediatr 2023; DOI: 10.3389/fped.2022.1057594 AbstractObjective: CblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small […]

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Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major

Azza Abdel Gawad Tantawy, Mourad Alfy Ramzy Tadros, Amira Abdel Moneam Adly, Eman Abdel Rahman Ismail, Fatma A. Ibrahim, Nanis Mohammed Salah Eldin, Mahitab Morsy Hussein, Mervat Abdalhameed Alfeky, Sarah Mohammed Ibrahim, Marwa Adel Hashem, Fatma Soliman Elsayed EbeidAin Shams University. Military Medical Services and Military Medical Academy.Egypt CytokineCytokine 2023; 161: DOI: 10.1016/j.cyto.2022.156048 AbstractBackground: Endothelin-1 (ET-1), a potent endogenous vasoconstrictor, stimulates production of reactive oxygen species. Endothelial monocyte-activating polypeptide-II (EMAP-II) is a multifunctional polypeptide.Aim: To assess ET-1 gene polymorphism

Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major Read More »

Hemodynamic Characteristics After Fontan Procedure in Patients with Down’s Syndrome

Masakazu Otsuka, Yoshihiko Kodama, Ayako Kuraoka, Yuichi Ishikawa, Makoto Nakamura, Toshihide Nakano, Hideaki Kado, Shintaro Umemoto, Ayako Ishikita, Ichiro Sakamoto, Tomomi Ide, Hiroyuki Tsutsui, Koichi SagawaFukuoka Children’s Hospital. Kyushu University Hospital.Japan Pediatric CardiologyPediatr Cardiol 2022; 43: 360-365DOI: 10.1007/s00246-021-02727-6 AbstractPatients with Down’s syndrome (DS) are generally regarded as not being good candidates for the Fontan procedure. However,

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Identification of the Key Pathways and Genes in Hypoxia Pulmonary Arterial Hypertension Following Intrauterine Growth Retardation

Weifen Zhu, Ziming Zhang, Weiwei Gui, Zheng Shen, Yixin Chen, Xueyao Yin, Li Liang, Lin LiThe Affiliated Sir Run Run Shaw Hospital, Children’s Hospital and The First Affiliated Hospital of Zhejiang University.China Frontiers in Molecular BiosciencesFront Mol Biosci 2022; DOI: 10.3389/fmolb.2022.789736 AbstractHigh-throughput sequencing and weighted gene co-expression network analysis (WGCNA) were used to identify susceptibility modules

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Identification of SOX2 Interacting Proteins in the Developing Mouse Lung With Potential Implications for Congenital Diaphragmatic Hernia

Kim A. A. Schilders, Gabriëla G. Edel, Evelien Eenjes, Bianca Oresta, Judith Birkhoff, Anne Boerema-de Munck, Marjon Buscop-van Kempen, Panagiotis Liakopoulos, Petros Kolovos, Jeroen A. A. Demmers, Raymond Poot, Rene M. H. Wijnen, Dick Tibboel and Robbert J. RottierErasmus Medical Center and Sophia Children’s Hospital. Democritus University of Thrace. Netherlands and Greece Frontiers in PediatricsFront

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Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome

Anita Kaw, Kaveeta Kaw, Ellen M. Hostetler, Ana Beleza-Meireles, Adam Smith-Collins, Catherine Armstrong, Ingrid Scurr, Timothy Cotts, Rajani Aatre, Michael J. Bamshad, Dawn Earl, Abraham Groner, Katherine Agre, Yehuda Raveh, Callie S. Kwartler, Dianna M. MilewiczMcGovern Medical School, University of Texas Health Science Center at Houston. St Michael’s Hospital. Bristol Royal Hospital for Children. University

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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

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

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

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

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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