A5074508104- Pulmonary Hypertension Research and Treatments
- Transplantation: Methods and Outcomes
- Congenital Heart Disease Studies
- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Mechanical Circulatory Support Devices
- Cardiac Structural Anomalies and Repair
- Organ Transplantation Techniques and Outcomes
- Congenital heart defects research
- Cardiac electrophysiology and arrhythmias
- Cardiac Valve Diseases and Treatments
- Kawasaki Disease and Coronary Complications
- Cardiac Arrhythmias and Treatments
- Cardiovascular Effects of Exercise
- Cardiovascular Issues in Pregnancy
- Polyomavirus and related diseases
- Pneumocystis jirovecii pneumonia detection and treatment
- Pluripotent Stem Cells Research
- Viral-associated cancers and disorders
- Cardiac Imaging and Diagnostics
- Heart Failure Treatment and Management
- Coronary Artery Anomalies
- Protein Tyrosine Phosphatases
- Viral Infections and Immunology Research
- Cardiac pacing and defibrillation studies
Osaka City General Hospital
2019-2024
Osaka Prefectural Medical Center
2019-2024
Osaka University
2012-2023
Osaka University Hospital
2006-2016
The University of Tokyo
2015
National Center For Child Health and Development
2015
Osaka City University
2012
National Cerebral and Cardiovascular Center
2011
University College London
2003
Texas Children's Hospital
1998
SA-I, SA-II *The morphofunctional phenotype description (M) may contain more information using standard abbreviations, such as AVB, atrioventricular block; WPW, Wolff-Parkinson-White syndrome; LQT, prolongation of the QT interval; AF, atrial fibrillation; ↓R, low electrocardiogram voltages; ↓PR, short PR interval.† Organ (O) involvement in addition to H subscript (for heart) should be expanded for M
Abstract In order to evaluate the contribution of FBN1, FBN2, TGFBR1 , and TGFBR2 mutations Marfan syndrome (MFS) phenotype, four genes were analyzed by direct sequencing in 49 patients with MFS or suspected as a cohort study. A total 27 FBN1 (22 novel) (55%, 27/49), 1 novel mutation (2%, 1/49), 2 recurrent (4%, 2/49) identified. No FBN2 was found. Three either abnormality did not fulfill Ghent criteria, but expressed some overlapping features Loeys–Dietz (LDS). remaining 19 patients, show...
Abstract Influenza-associated encephalopathy (IAE) is extremely acute in onset, with high lethality and morbidity within a few days, while the direct pathogenesis by influenza virus this phase brain largely unknown. Here we show that enters into cerebral endothelium thereby induces IAE. Three-weeks-old young mice were inoculated A (IAV). Physical neurological scores recorded temporal-spatial analyses of histopathology viral studies performed up to 72 h post inoculation. Histopathological...
LEOPARD syndrome (LS) is an autosomal dominant inherited multisystemic disorder. Most cases involve mutations in the PTPN11 gene, which encodes protein tyrosine phosphatase Src homology 2-containing 2 (SHP2). LS frequently causes severe hypertrophic cardiomyopathy (HCM), even from fetal period. However, molecular pathogenesis has not been clearly elucidated. Here, we analyzed roles of LS-type SHP2 mutant Gln510Glu (Q510E), showed most type HCM LS, cardiomyocyte differentiation, and...
A surface marker that distinctly identifies cardiac progenitors (CPs) is essential for the robust isolation of these cells, circumventing necessity genetic modification. Here, we demonstrate a Glycosylphosphatidylinositol-anchor containing neurotrophic factor receptor, Glial cell line-derived receptor alpha 2 (Gfra2), specifically marks CPs. GFRA2 expression facilitates CPs by fluorescence activated sorting from differentiating mouse and human pluripotent stem cells. Gfra2 mutants reveal an...
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene which encodes dystrophin protein. Dystrophin defect affects cardiac muscle as well skeletal muscle. Cardiac dysfunction observed all patients with over 18 years of age, but there no curative treatment for cardiomyopathy. To establish novel experimental platforms reproduce phenotype patients, here we established iPS cell lines from T lymphocytes donated two a protocol using Sendai virus vectors. We successfully conducted...
Rationale: To detect pulmonary arterial hypertension (PAH) at any early stage is a promising approach to optimize the outcome.Objectives: investigate impact of school ECG-based screening on detecting idiopathic or heritable (I/H)-PAH in general pediatric population.Methods: This was nationwide survey patients with I/H-PAH newly diagnosed 3 months 18 years age Japan during 2005–2012.Measurements and Main Results: Eighty-seven eligible (age range, 1–16 yr) were recruited. Among 68 (78%)...
Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information available concerning genotype-outcome correlations.We analyzed the clinical characteristics genetic testing, including whole exome sequencing, of 28 pediatric restrictive patients who were diagnosed from 1998 to 2021 at Osaka University Hospital Japan.The median age diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen received heart transplantations 5 on waiting list. One...
Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate genetic landscape LVNC identify genotype-phenotype correlations large Japanese cohort.We enrolled 206 from 2002 2017 Japan. was classified as follows: congenital heart defects, arrhythmia, dilated phenotype, or normal function. In patients, 182...
Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other factors including genetic related to disease has yet be fully elucidated.Between January 2004 and September 2019, we enrolled 223 consecutive aged <18 years confirmed diagnosis, 114 nuclear gene mutations, 89 DNA (mtDNA) point 11 mtDNA single large-scale deletions 9 chromosomal aberrations. at baseline was observed 46 (21%). Hazard ratios (HR) 95% confidence intervals (CI) were...
Background: To investigate the possible role of sex hormones in pathogenesis pulmonary arterial hypertension (PAH), effect β-estradiol (E2) on bone morphogenetic protein (BMP) signaling, a key signaling pathway involved PAH, was studied human endothelial cells (HPAEC). Methods and Results: BMP molecules, including receptor, Smad1/5/8 Id1, were HPAEC under 1% O2 (hypoxia) 21% (normoxia) as well hypoxia-inducible factor (HIF)-1α expression presence E2 signaling. The effects an estrogen...
Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr 11 mo with tricuspid atresia treated by performing the Fontan surgery. The patient did not any specific symptoms of syndrome related to pheochromoytoma or family history pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, an α-blocker was administered. Catecholamine hypersecretion observed in urine,...