Pediatrics international : official journal of the Japan Pediatric Society
-
Case Reports
Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.
Moyamoya disease (MMD) is a chronic steno-occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD-susceptibility gene in East Asian populations. We report a 5-year-old Japanese boy diagnosed with cerebral infarction and unilateral MMD. ⋯ The boy's mother had no neurological symptoms, but sequencing of RNF213 showed the same variant, and MRA indicated stenosis of the terminal bilateral ICA. This is the first report, to our knowledge, of different MMD phenotypes in a familial case involving the same heterozygous c.14429G > A variant in RNF213. Genetic testing for RNF213 is suggested for family member screening.
-
The Consensus on Science and Treatment Recommendations 2010 supported simulation-based training for education in resuscitation. This approach has been introduced into neonatal cardiopulmonary resuscitation (NCPR) courses in Japan, but no method for teaching instructors has been established. We developed a course for training instructors of NCPR, with inclusion of an instruction practice program. The goal of the study was to evaluate the performance of instructors who completed the course. ⋯ This is the first trial of a resuscitation training course using scenarios that participants developed themselves. A new course including instruction practice for training NCPR instructors was effective for improving instructor performance.