Genetic Factors Associated With Pulmonary Vascular Disease

Evaluation of newborns with Down syndrome with weight less than 1500 g in the neonatal intensive care unit: A Japanese multicentre study

Shuji Ishida, Hidehiko Nakanishi, Yukako Kosaka, Ayano Yamaguchi, Mari Ooka, the Neonatal Research NetworkKitasato University Hospital. Japan Journal pf Paediatrics and Child HealthJ Paediatr Child Health 2023; DOI: 10.1111/jpc.16418 AbstractAim: This study aimed to clarify the characteristics and their mortality-related factors in very low birthweight infants with Down syndrome (DS) in Japan.Methods: This retrospective case-control study enrolled newborns […]

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Rapid genetic diagnosis of neonatal persistent pulmonary hypertension with a novel FOXF1 mutation

Jeng-Hung Wu, Yu-Jui Wang, Jay-Yu Liau, Ni-Chung Lee, En-Ting WuNational Taiwan University Hospital and National Taiwan University College of Medicine.Taiwan Pediatrics and NeonatologyPediatr Neonatol 2023; DOI: 10.1016/j.pedneo.2022.12.010 AbstractNo Abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular Disease Age Focus: Pediatric Pulmonary Vascular Disease Fresh or Filed Publication:

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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, Brigitta Catharina Scheerman, Lukas Augustinus Johannes Rammeloo, Hester van Wieringen, Anne‑Marie van Wermeskerken, Roos van der Plas, Peter de Winter, Michel Emile Weijerman, Martina Cornelia Cornel, Anton Hubertus van KaamAmsterdam UMC Location University of Amsterdam. Amsterdam Public Health Research Institute. Amsterdam Reproduction & Development Research Institute. St. Antonius Ziekenhuis. Flevoziekenhuis, Hospitaalweg 1. Spaarne Gasthuis. KU Leuven. Alrijne Hospital. Netherlands and Belgium European Journal of PediatricsEur J Pediatr 2023; 182: 319-328DOI: 10.1007/s00431-022-04686-3 AbstractThe total uptake of prenatal

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

Flexible bronchoscopy in pediatric patients with Down syndrome: A case-control study of the indications, findings, and complications

Noga Arwas, Aviv Goldbart, Micha Aviram, Yotam Dizitzer, Itay Pansky, Inbal Golan-TriptoSoroka University Medical Center. Ben-Gurion University of the Negev.Israel Pediatric PulmonologyPediatr Pulmonol 2023; 58: 1658-1664DOI: 10.1002/ppul.26371 AbstractBackground: Children with Down syndrome (DS) often undergo flexible bronchoscopies (FB) due to common respiratory symptoms.Objective: To examine the indications, findings, and complications of FB in pediatric DS patients.Methods: A retrospective case-control

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An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations

Frances O. Flanagan, Alexander M. Holtz, Sara O. Vargas, Casie A. Genetti, Klaus Schmitz-Abe, Alicia Casey, John C. Kennedy, Benjamin A. Raby, Mary P. Mullen, Martha P. Fishman, Pankaj B. AgrawalBoston Children’s Hospital and Harvard Medical School. University of Miami Miller School of Medicine.United States Nature Partner Journals Genomic MedicineNPJ Genom Med 2023; 8: DOI: 10.1038/s41525-023-00350-3

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Descriptive images and features of pulmonary vascular disease in a child with a FOXF1 variant

Ronald W. Day, Khanh V. Lai, Hailey N. Baisch, Isabel C. LauUniversity of Utah and Primary Children’s Hospital. St. Luke’s Children’s Treasure Valley Pediatrics. Mountainstar Ogden Pediatrics.United States Pediatric PulmonologyPediatr Pulmonol 2023; DOI: 10.1002/ppul.26480 AbstractNo abstract CategoryClass III. Pulmonary Hypertension Associated with Developmental Diseases of the LungGenetic Factors Associated with Pulmonary Vascular DiseaseDiagnostic Testing for Pulmonary

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Novel Loss of Function KCNA5 Variants in Pulmonary Arterial Hypertension

Alba Vera-Zambrano, Mauro Lago-Docampo, Natalia Gallego, Juan Felipe Franco-Gonzalez, Daniel Morales-Cano, Alejandro Cruz-Utrilla, Marta Villegas-Esguevillas, Edgar Fernandez-Malave, Pilar Escribano-Subias, Jair Antonio-Tenorio-Castano, Francisco Perez-Vizcaino, Diana Valverde, Teresa Gonzalez, Angel CogolludoUniversidad Complutense de Madrid Facultad de Medicina. Universidad Autonoma de Madrid Facultad de Medicina. Instituto de Investigaciones Biomedicas Alberto Sols. Universidad de Vigo. Galicia Sur Health Research

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Sildenafil Improves Pulmonary Vascular Remodeling in a Rat Model of Persistent Pulmonary Hypertension of the Newborn

Lili Kang, Xianghong Liu, Zilong Li, Xiao Mei Li, Yujie Han, Chen Liu, Cuifen Zhao, Xiaoying LiQilu Children’s Hospital of ShanDong University. Qilu Hospital and Cheeloo College of MedicineChina Journal of Cardiovascular PharmacologyJ Cardiovasc Pharmacol 2023; 81: 232-239DOI: 10.1097/FJC.0000000000001373 AbstractPersistent pulmonary hypertension of the newborn (PPHN) is characterized by pulmonary arterial remodeling mainly because of apoptosis

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Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience

Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Nidhy P. VargheseBaylor College of Medicine, Texas Children’s Hospital. United States Frontiers in PediatricsFron Pediat 2023; 11: DOI: 10.3389/fped.2023.1050706 AbstractIntroduction: Hereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden

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Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function

Miranda K. Culley, Rashmi J. Rao, Monica Mehta, Jingsi Zhao, Wadih El Khoury, Lloyd D. Harvey, Dror Perk, Yi Yin Tai, Ying Tang, Sruti Shiva, Marlene Rabinovitch, Mingxia Gu, Thomas Bertero, Stephen Y. ChanUniversity of Pittsburgh School of Medicine and University of Pittsburgh Medical Center. Albert Einstein College of Medicine. Stanford Children’s Health and Stanford

Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function Read More »

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