Respiratory function testing for guiding ventilator mode conversion in congenital diaphragmatic hernia.

Introduction: For patients with a congenital diaphragmatic hernia, conventional mechanical ventilation (CMV) and high-frequency oscillatory ventilation (HFOV) are used in initial ventilatory management. HFOV has recently been recommended as a rescue therapy; however, we use HFOV for initial ventilation management, with a preoperative challenge test for CMV conversion and respiratory function testing at the time of CMV conversion. We aimed to compare patient characteristics between CMV conversion- and HFOV-preferred treatment groups.

Death of children with Down syndrome by gestational age and cause.

Background: We often encounter preterm infants with Down syndrome (DS) who die in the neonatal intensive care unit (NICU). In this study, we examined survival until NICU discharge and assessed the developmental prognosis of preterm infants with DS.

Methods: We retrospectively reviewed 416 infants with DS hospitalized during the past 27 years at our NICU.

Right to left ventricular volume ratio is associated with mortality in congenital diaphragmatic hernia.

Background: Congenital diaphragmatic hernia (CDH) is associated with high neonatal mortality. We performed this study to test the hypothesis that left ventricular (LV) and right ventricular (RV) volumes assessed by three-dimensional echocardiography may be associated with mortality in CDH.

Methods: This study was a single-center retrospective cohort study involving 35 infants with CDH.

Acute respiratory effect of transpyloric feeding for respiratory exacerbation in preterm infants.

Objectives: Gastroesophageal reflux may exacerbate chronic lung disease in preterm infants. We evaluated the short-term effects of transpyloric feeding on respiratory status in preterm infants during mechanical ventilation.

Methods: We retrospectively collected data from the hospital information management system.

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel variant.

Variants of , which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.

Novel biallelic mutations alter the skeletal phenotype of 3M syndrome.

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.