Genetic Factors Associated With Pulmonary Vascular Disease Archives - Page 35 of 39

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Matina Prapa, Mauro Lago-Docampo, Emilia M. Swietlik, David Montani, Melanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M. F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano-Subıas, Henning Gall, Barbara Girerd, Ignacio Hernandez-Gonzalez, Simon Holden, David Hunt, Samara M. A. Jansen, Wilhelmina Kerstjens-Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, […]

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Hospital outcomes in pediatric patients with Prader-Willi syndrome (PWS) undergoing orthopedic surgery: A 12-year analysis of national trends in surgical management and inpatient hospital outcomes

Kade S. McQuivey, Andrew S. Chung, Michael R. Jones, Justin L. Makovicka, Zachary K. Christopher, Joseph C. Brinkman, Mohan BelthurMayo Clinic Arizona. Midwestern University College of Osteopathic Medicine. Phoenix Children Hospital.United States Journal of Orthopaedic ScienceJ Orthop Sci 2022; 27: 1304-1308DOI: 10.1016/j.jos.2021.08.005 AbstractBackground: The incidence of orthopedic disorders amongst patients with Prader-Willi Syndrome (PWS) is high when

Hospital outcomes in pediatric patients with Prader-Willi syndrome (PWS) undergoing orthopedic surgery: A 12-year analysis of national trends in surgical management and inpatient hospital outcomes Read More »

Relationship between impaired BMP signalling and clinical risk factors at early-stage vascular injury in the preterm infant

Motaharehsadat Heydarian, Prajakta Oak, Xin Zhang, Nona Kamgari, Alida Kindt, Markus Koschlig, Tina Pritzke, Erika Gonzalez- Rodriguez, Kai Förster, Rory E Morty, Friederike Häfner, Christoph Hübener, Andreas W Flemmer, Ali Oender Yildirim, Deepti Sudheendra, Xuefei Tian, Agnese Petrera, Holger Kirsten, Peter Ahnert, Nick Morrell, Tushar J Desai, Jennifer Sucre, Edda Spiekerkoetter, Anne HilgendorffHelmholtz Zentrum München.

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Vascular Reactions of the Diving Reflex in Men and Women Carrying Different ADRA1A Genotypes

Tatyana Baranova, Ekaterina Podyacheva, Tatyana Zemlyanukhina, Dmitrii Berlov, Maria Danilova, Oleg Glotov, Andrey GlotovSaint Petersburg State University. D.O. Ott’s Institute of Obstetrics. Pediatric Research and Clinical Center for Infectious Diseases.Russia International Journal of Molecular SciencesInt J Mol Sci 2022; 23: DOI: 10.3390/ijms23169433 AbstractThe diving reflex is an oxygen-saving mechanism which is accompanied by apnea, reflex bradycardia

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Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling YangPeking University First Hospital. Peking University People’s Hospital. Beijing Children’s Hospital Affiliated to Capital Medical University. China-Japan Friendship Hospital. First

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment Read More »

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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