Search Results - "Boda, Hiroko"
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Elimination of Mutant mtDNA by an Optimized mpTALEN Restores Differentiation Capacities of Heteroplasmic MELAS-iPSCs
Published in Molecular therapy. Methods & clinical development (12-03-2021)“…Various mitochondrial diseases, including mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), are associated with heteroplasmic…”
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Dexmedetomidine versus fentanyl for sedation in extremely preterm infants
Published in Pediatrics international (01-01-2023)“…Background Few studies have compared the efficacy and complications of dexmedetomidine (DEX) and fentanyl (FEN) in extremely preterm infants. Methods We…”
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3
A PDE3A mutation in familial hypertension and brachydactyly syndrome
Published in Journal of human genetics (01-08-2016)“…Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were…”
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A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant
Published in Congenital anomalies (01-09-2022)“…GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report…”
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5
Maturation of the QT Variability Index is Impaired in Preterm Infants
Published in Pediatric cardiology (01-06-2018)“…Reduced heart rate (HR) variability in preterm infants compared with full-term infants suggests that autonomic cardiac control is developmentally delayed…”
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Relationship between QT and JT peak interval variability in prepubertal children
Published in Annals of noninvasive electrocardiology (01-07-2017)“…Background The QT variability index (QTVI) is a noninvasive index of repolarization lability that has been applied to subjects with cardiovascular disease…”
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Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease
Published in BMC medical genetics (26-10-2015)“…Background In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Case…”
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Efficacy of Peritoneal Drainage for Focal Intestinal Perforation
Published in Journal of neonatal surgery (08-04-2018)“…Objective: Focal intestinal perforation (FIP), which is characterized by the lack of inflammatory infiltration peripheral to the perforation, develops with few…”
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Rotavirus Vaccination Can Be Performed Without Viral Dissemination in the Neonatal Intensive Care Unit
Published in The Journal of infectious diseases (30-01-2018)“…Rotavirus vaccine was administered to infants admitted to the neonatal intensive care unit. Fecal shedding of vaccine viruses was examined. Although vaccine…”
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10
FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency
Published in European journal of medical genetics (01-11-2019)“…We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo…”
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A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate
Published in The Cleft palate-craniofacial journal (01-08-2018)“…Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes,…”
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A Family with Craniofrontonasal Syndrome
Published in The Cleft palate-craniofacial journal (01-08-2018)“…Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes,…”
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13
Electrocardiographic RR and QT Interval Variability in Patients with Atrial Septal Defect and Healthy Children
Published in Pediatric cardiology (01-03-2017)“…Atrial septal defect is a common congenital heart disease. In patients with atrial septal defect, left-to-right shunting increases the right atrial and right…”
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14
Inflammation Aggravates Heterogeneity of Ventricular Repolarization in Children With Kawasaki Disease
Published in Pediatric cardiology (01-10-2014)“…Kawasaki disease complicates with myocarditis and vasculitis. Even if myocarditis is asymptomatic, heterogeneity of ventricular repolarization may be increased…”
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Abstract 8622: Transmural Dispersion of Repolarization in Febrile Children with Kawasaki Disease
Published in Circulation (New York, N.Y.) (22-11-2011)“…Abstract only Introduction: The instability of myocardial repolarization is generally mediated by myocardial failure. We assessed the hypothesis that…”
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Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease
Published in BMC medical genetics (26-10-2015)“…In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD). This healthy…”
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