Search Results - "Ozawa, Junichi"
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Impact of being large-for-gestational-age on neonatal mortality and morbidities in extremely premature infants
Published in Pediatric research (01-10-2021)“…Background Small for gestational age (SGA) infants have an increased risk for neonatal mortality and morbidities. However, few studies have examined the risk…”
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Differential Diagnosis Between Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome Type 1 ― Modified Schwartz Score
Published in Circulation Journal (24-08-2018)“…Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) has been often misdiagnosed as long QT syndrome (LQTS) type 1 (LQT1), which…”
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An NGS-based genotyping in LQTS; minor genes are no longer minor
Published in Journal of human genetics (01-12-2020)“…Mutations in KCNQ1, KCNH2, and SCN5A are the major cause of long QT syndrome (LQTS). More than 90% of the genotyped patients have been reported to carry…”
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Increased expression of heme oxygenase-1 suppresses airway branching morphogenesis in fetal mouse lungs exposed to inflammation
Published in Pediatric research (01-02-2020)“…Background Intrauterine inflammation affects fetal lung development. BTB and CNC homology 1 (Bach1) is a transcriptional repressor of heme oxygenase-1 ( HO-1 )…”
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Dynamic QT Changes in Long QT Syndrome Type 8
Published in Circulation Journal (25-06-2019)Get full text
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High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8
Published in Circulation Journal (25-03-2020)“…Background:Long QT syndrome type 8 (LQT8) is a rare genotype of long QT syndrome. Late-appearing T-waves (LaT) are often documented in patients with LQT8, as…”
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Therapeutic response of iNO in preterm infants with hypoxemic respiratory failure
Published in Pediatrics international (01-01-2023)“…Background Inhaled nitric oxide (iNO) has been used as a rescue treatment for preterm infants with hypoxemic respiratory failure (HRF). However, its…”
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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
Published in Scientific reports (08-11-2022)“…Timothy syndrome (TS) is a rare pleiotropic disorder associated with long QT syndrome, syndactyly, dysmorphic features, and neurological symptoms. Several…”
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Difference in pyruvic acid metabolism between neonatal and adult mouse lungs exposed to hyperoxia
Published in PloS one (03-09-2020)“…Objective Neonatal lungs are more tolerant to hyperoxic injury than are adult lungs. This study investigated differences in the response to hyperoxic exposure…”
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Copy number variations of SCN5A in Brugada syndrome
Published in Heart rhythm (01-08-2018)“…Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated…”
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School-based routine screenings of electrocardiograms for the diagnosis of long QT syndrome
Published in Europace (London, England) (13-10-2022)“…School-based routine screenings of electrocardiograms (ECGs) have been performed upon admission to primary school (PS), junior high school (JHS), and high…”
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A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Published in Human genome variation (22-02-2024)“…Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal…”
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Novel electrocardiographic criteria for short QT syndrome in children and adolescents
Published in Europace (London, England) (07-12-2021)“…Abstract Aims Although shortening of the corrected QT interval (QTc) is a key finding in the diagnosis of short QT syndrome (SQTS), there may be overlap of the…”
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Efficacy of cEEG and hepatic function to diagnose early acute encephalopathy
Published in Pediatrics international (01-01-2023)“…Background Early treatment may improve the prognosis of acute encephalopathy (AE). However, methods for early diagnosis have not yet been established. In this…”
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Preterm Infant with Generalized Arterial Calcification of Infancy Who Survived Due to Early Diagnosis and Appropriate Treatment with Bisphosphonates: A Case Report
Published in Children (Basel) (27-09-2024)“…Generalized arterial calcification of infancy (GACI) is a rare disease characterized by arterial calcification. GACI is caused by a mutation in the ENPP1 or…”
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Cytomegalovirus‐related sepsis‐like syndrome in very premature infants in Japan
Published in Pediatrics international (01-01-2022)“…Background Very premature infants are at high risk of developing a symptomatic postnatal cytomegalovirus (CMV) disease, such as CMV‐related sepsis‐like…”
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Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes
Published in Circulation Journal (25-11-2016)“…Background:Mutations inANK2have been reported to cause various arrhythmia phenotypes. The prevalence ofANK2mutation carriers in inherited primary arrhythmia…”
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Pediatric Cohort With Long QT Syndrome – KCNH2 Mutation Carriers Present Late Onset But Severe Symptoms
Published in Circulation Journal (2016)“…Background:In children with long QT syndrome (LQTS), risk factors for cardiac events have been reported, but age-, gender- and genotype-related differences in…”
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Thioredoxin-1 Ameliorates Oxygen-Induced Retinopathy in Newborn Mice through Modulation of Proinflammatory and Angiogenic Factors
Published in Antioxidants (30-04-2022)“…Oxygen-induced retinopathy (OIR) is an animal model for retinopathy of prematurity, which is a leading cause of blindness in children. Thioredoxin-1 (TRX) is a…”
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Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano–Ward syndrome under double mutations and acquired long QT syndrome under heterozygote
Published in Journal of cardiology (01-07-2017)“…Abstract Background Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic…”
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