We present a cytogenetically normal neonate who developed transient abnormal myelopoiesis. The blasts showed trisomy 21. In contrast, fibroblasts, and PHA-stimulated peripheral blood demonstrated normal diploid line on extensive karyotyping. Direct sequencing of the DNA derived from the peripheral blood at overt disease revealed splice site mutation in the boundary of GATA1 exon 2. The patient received three courses of chemotherapy leading to complete remission. During the complete remission, there was neither mutation of GATA1 exon 2 nor trisomy 21, confirming somatic nature of both abnormalities. The patient is now free from the disease 12 months after remission. This case emphasizes the significance of trisomy 21 as the cause of transient abnormal myelopoiesis in Down syndrome.

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Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. OTC deficiency, which is caused by impaired synthesis of OTC in the liver, is the most common inherited disease of urea cycle disorders. In this paper, we describe the case of an OTC-deficient Japanese boy wherein an analysis based on high-density single-nucleotide polymorphisms (SNPs) revealed the absence of the entire OTC locus and nearby genes. We identified a deletion on Xp11.4; the size of the deletion fragment was approximately 1 Mb. The deleted region included genes encoding transmembrane 4 superfamily member 2 (TSPAN7), MID1 interacting protein 1 (MID1IP1) and part of the retinitis pigmentosa GTPase regulator (RPGR) in addition to OTC. The results of a high-density SNP assay and PCR confirmed that the mother of the patient was a carrier of the mutation. Previously, determination of breakpoints for large unknown deletions was timeconsuming and laborintensive. However, the use of the widely available DNA chip technology allows for rapid determination of deletion breakpoints; therefore, it will become a standard technique in study of patients with a large genomic deletion of contiguous genes for provision of comprehensive genetic counseling and initiation of clinical management.

Objective: This retrospective analysis aimed to identify the risk factors of Kawasaki disease (KD) resistant to second intravenous immunoglobulin ( IVIG) and design the score system discerning IVIG resistant patients in acute phase. Materials and Methods: A retrospective chart review of pediatric patients admitted to Children’s Medical Center, Yokosuka General Hospital Uwamachi with the diagnosis of KD during 2011 to 2013. In total 127 patients, 116 patients received IVIG and of 92 patients were respondent for initial course of IVIG. Rest of 17 patients received second course of IVIG and of 7 patients were resistant to second course of IVIG. Results: Logistic regression analysis showed that serum sodium concentration <131 mEq/L (odds ratio[OR]=7.43, 95% confidence interval [CI]=1.470-37.564), serum albumin concentration <3.0 g/dl (OR=7.00, 95% CI=1.109-44.195), age less than six months (OR=8.25, 95% CI=1.615-42.146), and white blood cell count <9000/μ (OR=6.29, 95% CI=1.309-30.191) were associated with risk factors of resistant to second IVIG. Designed the score system on the basis of these four factors, we could estimate the failure to second IVIG and its accuracy was 95.3%. Conclusion: The score system based on easy and simple clinical factors might be useful for estimating the patients resistant to second IVIG and improve those patients’ further treatment.

An analysis of the impact of administrative decisions on the revitalization of city centers since 1998.