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RESEARCH: “De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders”

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants …

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RESEARCH: “On the feasibility of accessing acute pain-related facial expressions in the human fetus and its potential implications: a case report.”

INTRODUCTION: Although pain facial assessment is routinely performed in term and preterm newborns by the use of facial expression-based tools such as the Neonatal Facial Coding System, the assessment of …

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RESEARCH: “Expression of Nitric Oxide Synthase Interacting Protein (NOSIP) is Decreased in the Pulmonary Vasculature of Nitrofen-Induced Congenital Diaphragmatic Hernia”

Persistent pulmonary hypertension (PPH) is a major cause of morbidity and mortality in newborns with congenital diaphragmatic hernia (CDH). PPH is characterized by increased vascular resistance and smooth muscle cell …

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RESEARCH: “Longitudinal changes in lung size and intrapulmonary artery Doppler during the second half of pregnancy in fetuses with congenital diaphragmatic hernia”

Objective: To evaluate longitudinal changes in lung size and intrapulmonary artery (IPa) Doppler in fetuses with congenital diaphragmatic hernia (CDH) and assess their contribution in predicting neonatal survival. Methods: The …

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RESEARCH: “ANNALS EXPRESS: Hematopoietic alterations in neonates with congenital diaphragmatic hernia receiving extracorporeal membrane oxygenation support”

Extracorporeal membrane oxygenation procedure (ECMO) has been established in the therapy of respiratory insufficient infants with congenital diaphragmatic hernia (CDH). In CDH newborns, a delay in transfer to an ECMO …

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RESEARCH: “Respiratory syncytial virus prophylaxis in infants with congenital diaphragmatic hernia in the CARESS registry (2005–2017)”

Infants with congenital diaphragmatic hernia (CDH) are at increased risk of respiratory morbidity from recurrent respiratory tract infections including those from respiratory syncytial virus (RSV). Data from prospective studies on …

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RESEARCH: “Inter- and Intra-rater Reliability of A Grading System for Congenital Diaphragmatic Hernia Defect Size”

The Congenital Diaphragmatic Hernia Study Group (CDHSG) registry is a multi-institutional tool to track outcomes of patients with CDH. The CDHSG asks surgeons to categorize diaphragmatic defect sizes as type …