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Satsumasendai, Japan

Miyazaki O.,National Center for Child Health and Development | Sawai H.,Hyogo College of Medicine | Murotsuki J.,Miyagi Childrens Hospital | Murotsuki J.,Tohoku University | And 3 more authors.
Pediatric Radiology | Year: 2014

Background: Recently, computed tomography (CT) has been used to diagnose fetal skeletal dysplasia. However, no surveys have been conducted to determine the radiation exposure dose and the diagnostic reference level (DRL). Objective: To collect CT dose index volume (CTDIvol) and dose length product (DLP) data from domestic hospitals implementing fetal skeletal 3-D CT and to establish DRLs for Japan. Materials and methods: Scan data of 125 cases of 20 protocols from 16 hospitals were analyzed. The minimum, first-quartile, median, third-quartile and maximum values of CTDIvol and DLP were determined. The time-dependent change in radiation dose setting in hospitals with three or more cases with scans was also examined. Results: The minimum, first-quartile, median, third-quartile and maximum CTDIvol values were 2.1, 3.7, 7.7, 11.3 and 23.1 mGy, respectively, and these values for DLP were 69.0, 122.3, 276.8, 382.6 and 1025.6 mGy•cm, respectively. Six of the 12 institutions reduced the dose setting during the implementation period. Conclusions: The DRLs of CTDIvol and DLP for fetal CT were 11.3 mGy and 382.6 mGy•cm, respectively. Institutions implementing fetal CT should use these established DRLs as the standard and make an effort to reduce radiation exposure by voluntarily decreasing the dose. © 2014 Springer-Verlag. Source

Kato M.,Yamagata University | Saitsu H.,Yokohama City University | Murakami Y.,Osaka University | Kikuchi K.,Saitama Childrens Medical Center | And 14 more authors.
Neurology | Year: 2014

Objective: To investigate the clinical spectrum caused by mutations in PIGA at Xp22.2, which is involved in the biosynthesis of the glycosylphosphatidylinositol (GPI) anchor, among patients with early-onset epileptic encephalopathies (EOEEs). Methods: Whole-exome sequencing was performed as a comprehensive genetic analysis for a cohort of 172 patients with EOEEs including early myoclonic encephalopathy, Ohtahara syndrome, and West syndrome, and PIGA mutations were carefully investigated. Results: We identified 4 PIGA mutations in probands showing early myoclonic encephalopathy, West syndrome, or unclassified EOEE. Flow cytometry of blood granulocytes from patients demonstrated reduced expression of GPI-anchored proteins. Expression of GPI-anchored proteins in PIGA-deficient JY5 cells was only partially or hardly restored by transient expression of PIGA mutants with a weak TATA box promoter, indicating a variable loss of PIGA activity. The pheno-typic consequences of PIGA mutations can be classified into 2 types, severe and less severe, which correlate with the degree of PIGA activity reduction caused by the mutations. Severe forms involved myoclonus and asymmetrical suppression bursts on EEG, multiple anomalies with a dysmorphic face, and delayed myelination with restricted diffusion patterns in specific areas. The less severe form presented with intellectual disability and treatable seizures without facial dysmorphism. Conclusions: Our study confirmed that PIGA mutations are one genetic cause of EOEE, suggesting that GPI-anchor deficiencies may be an underlying cause of EOEE. © 2014 American Academy of Neurology. Source

Kitazawa H.,Miyagi Childrens Hospital | Kure S.,Tohoku University
Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine | Year: 2015

Interstitial lung disease (ILD) in childhood is a heterogeneous group of rare pulmonary conditions presenting chronic respiratory disorders. Many clinical features of ILD still remain unclear, making the treatment strategies mainly investigative. Guidelines may provide physicians with an over-view on the diagnosis and therapeutic directions. However, the criteria used in different clinical studies for the classification and diagnosis of ILDs are not always the same, making the development of guidelines difficult. Advances in genetic testing have thrown light on some etiologies of ILD, which were formerly classified as ILDs of unknown origins. The need of genetic testing for unexplained ILD is growing, and new classification criteria based on the etiology should be adopted to better understand the disease. The purpose of this review is to give an overview of the clinical and genetic aspects of ILD in children. © the authors, publisher and licensee Libertas Academica Limited. Source

Kunishima S.,Clinical Research Center | Nishimura S.,University of Tokyo | Nishimura S.,Jichi Medical University | Suzuki H.,Nippon Medical School | And 2 more authors.
European Journal of Haematology | Year: 2014

This report describes a family with TUBB1-associated macrothrombocytopenia diagnosed based on abnormal platelet β1-tubulin distribution. A circumferential marginal microtubule band was undetectable, whereas microtubules were frayed and disorganized in every platelet from the affected individuals. Patients were heterozygous for novel TUBB1 p.F260S that locates at the α- and β-tubulin intradimer interface. Mutant β1-tubulin was not incorporated into microtubules with endogenous α-tubulin, and α-tubulin expression was decreased in transfected Chinese hamster ovary cells. Transduction of mutant β1-tubulin into mouse fetal liver-derived megakaryocytes demonstrated no incorporation of mutant β1-tubulin into microtubules with endogenous α-tubulin and diminished proplatelet formation, leading to the production of fewer, but larger, proplatelet tips. Furthermore, mutant β1-tubulin was not associated with endogenous α-tubulin in the proplatelets. Deficient functional microtubules might lead to defective proplatelet formation and abnormal protrusion-like platelet release, resulting in congenital macrothrombocytopenia. © 2013 John Wiley & Sons A/S. Source

Yokota S.,Yokohama City University | Imagawa T.,Yokohama City University | Mori M.,Yokohama City University | Miyamae T.,Yokohama City University | And 8 more authors.
Journal of Rheumatology | Year: 2014

Objective. To assess the longterm safety and effectiveness of tocilizumab (TCZ) in systemic-onset juvenile idiopathic arthritis (sJIA). Methods. The longterm extension phase of 2 pivotal studies (phase II with 11 patients and phase III with 56 patients) in patients with active sJIA was analyzed. Patients received open-label TCZ (8 mg/kg, every 2 weeks) without concomitant use of disease-modifying antirheumatic drugs. Results. In total, 67 patients were enrolled. All patients received corticosteroid at baseline. Median duration of exposure to TCZ was 3.4 years. Nine patients withdrew from the study [4 because of adverse events (AE), 4 because of the development of anti-TCZ antibodies, and 1 because of inadequate response]. Rates of AE and serious AE were 803.7/100 patient-years (PY) and 34.7/100 PY, respectively. The most common serious AE were infections (13.2/100 PY). No cases of malignancy or death were reported. Two serious infusion reactions were reported in patients testing negative for anti-TCZ antibodies. One definite macrophage activation syndrome (MAS) case and 1 potential MAS case were identified. American College of Rheumatology (ACR) response rates attained early in the TCZ treatment period were maintained throughout the study: at Week 168, JIA ACR 30, 50, 70, 90, and 100 response rates were 80.3%, 80.3%, 75.4%, 60.7%, and 18.0%, respectively. In total, 22 of 67 patients (32.8%) completely discontinued corticosteroids without flare. Conclusion. TCZ has demonstrated durability of effectiveness in the longterm treatment of children with sJIA and has shown good tolerability and a low discontinuation rate associated with AE, development of anti-TCZ antibodies, or inadequate response. (ClinicalTrials.gov NCT00144599 and NCT00144612). Copyright © 2014. All rights reserved. Source

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