A5032464602- Genomic variations and chromosomal abnormalities
- Infectious Encephalopathies and Encephalitis
- Folate and B Vitamins Research
- Viral Infections and Immunology Research
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Parathyroid Disorders and Treatments
- Neuroblastoma Research and Treatments
- Epilepsy research and treatment
- Ethics in Clinical Research
- Prenatal Screening and Diagnostics
- Influenza Virus Research Studies
- Palliative Care and End-of-Life Issues
- RNA regulation and disease
- Foreign Body Medical Cases
- Amino Acid Enzymes and Metabolism
- Medical Research and Treatments
- Ethics and Legal Issues in Pediatric Healthcare
- Respiratory viral infections research
- Chromosomal and Genetic Variations
- Medical Malpractice and Liability Issues
- Ethics in medical practice
- Biochemical and Molecular Research
- Genomics and Chromatin Dynamics
Gunma Children's Medical Center
2017-2022
Kyoto University
2013-2016
Noguchi Hospital
2016
Kanagawa Children's Medical Center
2008
Medical Genetics Center
2006
Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with trisomy, it difficult to determine whether patient symptoms are related or other abnormalities. The present study evaluated genotype–phenotype correlations of 26 cases diagnosed partial syndrome. DNA microarray was used investigate the duplication/triplication region 16 cases. Although there no overlapping common all cases, 1q41‐qter frequently involved. One case as pure...
Abstract A newborn male had an interstitial deletion of 16q21–q22.1 accompanying tetralogy Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, severe psychomotor developmental delay. When the in this patient other reported patients are compared, 16q22 region appears be smallest for 16q syndrome. Since over 50% have congenital heart disease, there may a responsible gene region. © 2008 Wiley‐Liss, Inc.
Abstract Background The major cause of osteopathy prematurity is dietary phosphate deficiency, but secondary hyperparathyroidism caused by calcium deficiency or vitamin D also important. Because parathyroid hormone (PTH) mobilizes and from the bone, worsens prematurity. In order to identify useful markers screen for diagnose in preterm infants, we measured serum urinary biochemical markers. Methods Several biomarkers, including intact PTH (iPTH), were urine samples obtained 95 relationship...
Abstract Background In studies publishing identifying personal information, obtaining consent is regarded as necessary, it impossible to ensure complete anonymity. However, current journal practices around specific points consider when consent, the contents of forms and how are managed have not yet been fully examined. This study was conducted identify potential issues surrounding publish information. Methods Content analysis carried out on instructions for authors developed by academic...
Abstract Background : Hospital ethics committees have gained importance in Japan. But there is no current status report for the last decade. Aim To ascertain of Japanese hospital committees, to clarify whether prevalence such differs based on number beds, and identify requirements sustaining practice. Subjects Methods A questionnaire survey was sent 2,433 hospitals accredited by Japan Council Quality Health Care. Results Of 472 participating (19.4% response rate), 394 (83.5%) had...
We report the fourth example of a patient with germline partial trisomy 2p21-pter and congenital neuroblastoma. The male infant had dysmorphic facial expression presented heart disease, supernumerary nipples, hypospadias, shawl scrotum, hemilateral persistent hyperplastic primary vitreous, His karyotype 46,XY,der(8)t(2;8)(p21;p23.2) was inherited from maternal-balanced translocation, which indicates that proto-oncogene MYCN region 2p24.3 is tripicated in cells. A cytogenetic study biopsied...
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented pulmonary haemorrhage convulsions on day birth. Brain computed tomography showed diffuse, but mild, low-density cerebral white matter thin subdural hematoma in posterior fossa. He did not have thrombocytopenia or coagulopathy. His...