Yoko Okazaki

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Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase (TNSALP). There is a broad range of severity in the phenotype of HPP, and the most severe form exhibits perinatal lethality without mineralization of the skeleton. Here, we describe a female(More)
BACKGROUND Raised nucleated red blood cell (NRBC) counts in neonates may indicate in utero hypoxia and brain damage. OBJECTIVE The study aimed to examine the use of NRBC counts as a predictor of brain injury and neurodevelopmental outcomes in neonates with hypoxic-ischemic encephalopathy (HIE) treated under current cooling-based strategy. METHODS(More)
The relative contents (RCs) of mineral elements in aortae and cerebral arteries from 23 subjects, with ages ranging between 45 and 99 yr, were analyzed by inductively coupled plasma atomic emission spectrometry. The RCs of calcium, phosphorus, and magnesium in the aortae increased markedly after the age of 70. While the RC of sulfur in aortae decreased(More)
BACKGROUND We define clinical predictors of neurological outcome in neonates with hypoxic-ischemic encephalopathy undergoing hypothermia therapy. METHODS Twenty-one neonates who underwent selective head cooling between 2004 and 2010 and were followed neurologically for ≥ 24 months were investigated retrospectively. Patients were divided according to the(More)
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