Curriculum Vitaes
Profile Information
- Affiliation
- Professor, Department of Pediatrics, School of Medicine, Fujita Health University
- Degree
- 博士(医学)
- Contact information
- m-miata
fujita-hu.ac.jp
- Researcher number
- 00387721
- J-GLOBAL ID
- 201501018261217220
- researchmap Member ID
- 7000012833
Research Interests
2Research History
9-
Apr, 2009 - Mar, 2010
Education
2-
Apr, 2000 - Mar, 2004
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Apr, 1992 - Mar, 1997
Papers
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Human genome variation, 12(1) 2-2, Jan 6, 2025UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms. We identified a de novo hemizygous mutation, c.1660 C > T (p.Pro554Ser), in exon 15 of the UBA1 gene in this baby. This missense mutation was located with the AAD (active adenylation domain) of the protein, a known hotspot of SMAX2 mutations. This case lends support to the genotype-phenotype correlation regarding the UBA1 mutation and its related diseases.
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Fujita medical journal, 9(3) 253-258, Aug, 2023OBJECTIVES: Intestinal rotavirus (RV) vaccine replication and host immune response are suggested to be affected by several factors, including maternal antibodies, breastfeeding history, and gut microbiome, which are thought to be similar in pairs of twins. The aim of this study was to determine whether viral shedding from the fecal RV vaccine strain Rotarix® (RV1) and IgG and IgA responses to RV show similarity in pairs of twins. METHODS: Quantitative reverse transcription polymerase chain reaction specific to RV vaccine strain RV1 was used to monitor fecal RV1 viral shedding. RV IgG and IgA titers were measured using an in-house enzyme-linked immunosorbent assay. Fecal RV1 viral shedding and immune responses were compared between twins and singletons with mixed effects and fixed effects models. RESULTS: A total of 347 stool and 54 blood samples were collected from four pairs of twins and twelve singletons during the observation period. Although the kinetics of fecal RV1 viral shedding and immune responses differed among vaccinated individuals, they appeared to be similar within twin pairs. RV shedding after the first dose (P=0.049) and RV IgG titers during the entire observation period (P=0.015) had a significantly better fit in the fixed effect model that assumed that twins have the same response versus the model that assumed that twins have a different response. CONCLUSIONS: The similarity of RV vaccine viral replication in intestine and host immune responses in twin pairs was demonstrated using statistical analysis.
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Pediatrics international : official journal of the Japan Pediatric Society, 65(1) e15527, 2023BACKGROUND: In Japan, the first human milk bank (HMB) was established in 2017, which changed the practice of enteral feeding in neonatal care. This study investigated the practice of enteral feeding of preterm infants after the establishment of the HMB in Japan and examined related future issues. METHODS: A survey on enteral feeding and the use of the HMB was conducted in 251 neonatal intensive care units (NICUs) from December 2020 to February 2021. RESULTS: The response rate was 61%. The ideal times to start enteral feeding for extremely-low-birthweight infants (ELBWI) and very-low-birthweight infants (VLBWI) were within 24 h after birth in approximately 59% and 62% of NICUs, however, only 30% and 46% could do so, respectively. Artificial nutrition was used to initiate enteral feeding for ELBWIs and VLBWIs in in 24% and 56% of NICUs, respectively. Of the NICUs, 92% considered the HMB "necessary" or "rather necessary". Fifty-five percent wanted to use the HMB but could not. The major reasons for this were (1) difficulty in paying the annual membership fee, (2) difficulty obtaining approval from the NICU, and (3) complexity in using the facility. The indications for using and discontinuation of use of donor milk varied among the NICUs. Only in 17%, milk expression was within 1h after delivery. CONCLUSIONS: Compared with before the establishment of the HMB, NICUs are currently more willing to start enteral feeding for preterm infants earlier. However, the implementation of enteral feeding appears to be challenging. Issues related to the HMB highlighted by the responses need to be addressed. Additionally, guidelines for using donor milk should be established.
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Pediatrics international : official journal of the Japan Pediatric Society, 65(1) e15581, 2023BACKGROUND: Few studies have compared the efficacy and complications of dexmedetomidine (DEX) and fentanyl (FEN) in extremely preterm infants. METHODS: We conducted a single-institution, retrospective controlled before and after study of preterm infants before 28 weeks of gestation admitted between April 2010 and December 2018 to compare the complications and efficacy of DEX and FEN for preterm infants. Patients were administered FEN prior to 2015 and DEX after 2015 as the first-line sedative. A composite outcome of death during hospitalization and developmental quotient (DQ) < 70 at a corrected age of 3 years was compared as the primary outcome. Secondary outcomes including postmenstrual weeks at extubation, days of age when full enteral feeding was achieved and additional sedation by phenobarbital (PB) were compared. RESULTS: Sixty-six infants were enrolled into the study. The only perinatal factor that differed between the FEN (n = 33) and DEX (n = 33) groups was weeks of gestation. The composite outcome of death and DQ < 70 at a corrected age of 3 years were not significantly different. Postmenstrual weeks at extubation did not significantly differ between groups after adjustment for weeks of gestation and being small for gestational age. On the other hand, full feeding was significantly prolonged by DEX (p = 0.031). Additional sedation was less common in the DEX group (p = 0.044). CONCLUSION: The composite outcome of death and DQ < 70 at a corrected age of 3 years were not significantly different by DEX or FEN for primary sedation. Prospective randomized controlled trials should examine the long-term effects on development.
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Congenital anomalies, Jun 24, 2022GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this transcriptional activity level with other GATA4 variants, those that had been identified in patients with cardiac defects and DSD showed less activity than those in patients with cardiac defect only. This suggests that the normal development of the heart requires more strict regulation of GATA4 transcription than testicular development. Further, when the different variants were co-expressed with wild-type, the transcriptional activities were consistently lower than would be expected from an additive effect, suggesting a dominant-negative impact of the variant via dimer formation of the GATA4 protein. Since these pathogenic GATA4 variants are occasionally identified in healthy parents, a threshold model of quantitative traits may explain the cardiac defect or DSD phenotypes that they cause.
Misc.
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JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 25(9-10) 853-857, Oct, 2012 Peer-reviewedBackground: Reports have described that, in adults, steroids suppress thyroid-stimulating hormone (TSH) and triiodothyronine (T3) and might suppress thyroxine (T4). No data have been reported for thyroid hormone changes before or after administration of glucocorticoid in preterm infants. Aims: The aim of this study was to investigate short-term effects of thyroid hormones on preterm infants. Index cases : We measured TSH, free T3 (FT3), and free T4 (FT4) before and after one or two doses of glucocorticoids administered to five infants at 29-37 weeks of corrected gestational age. Results: Comparison of thyroid hormone levels before and 1 day after glucocorticoid administration showed that TSH significantly decreased by 76% (64%-87%), FT3 by 33% (10%-50%), and FT4 by 10% (3%-17%). The decline in TSH and FT3 was followed by an increase around the pretreatment level at 3-15 days after glucocorticoid administration. In two of the five infants, FT4 continued to decrease from 1 day after glucocorticoid administration. Conclusions: In preterm infants, assessing thyroid hormones after glucocorticoid therapy demands caution because very short-term administration causes marked changes.
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24(1) 114-120, Feb, 2012 Peer-reviewed
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日本小児腎不全学会雑誌, 31 303-305, Jul, 2011 Peer-reviewed1946年にPotterが両側性腎無形成と特徴的な顔貌を呈する症候群を記載して以来、Potter sequenceの報告は数多くみられるが、長期生存したという報告は調べた限りではみられない。今回著者等は、母体が高度の羊水過少をきたし、児のPotter sequenceが疑われる症例に対して、妊娠継続と肺低形成予防を目的に頻回の人工羊水注入療法を行い出生した2例を経験した。両例とも出生後は腹膜透析を必要としたが、肺低形成は軽度であり、人工羊水注入療法はPotter sequence児の生命予後を改善させる可能性があると考えられた。
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23(2) 65-71, Jun 15, 2011
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JOURNAL OF ELECTROCARDIOLOGY, 44(3) 326-329, May, 2011 Peer-reviewedBackground: QT interval variability provides information on ventricular vulnerability. However, QT interval variability in children has not been adequately evaluated. Methods: One hundred seventy-three consecutive nursing infants and children (male-female, 106:67) up to school age with no intrinsic cardiac disease were included in this study, and they were categorized into 6 age-related groups. The QT variability index (QTVI) was calculated based on an electrocardiogram; and age-specific standard values, sex-specific classification, and a standard growth curve covering 0 to 7 years were constructed. Results: The QTVI decreased in an age-dependent manner, reached constant values after school age, and exhibited no sex-specific differences in 6 age-related groups. Conclusions: Based on the age-dependent standardized QTVI values, it is possible to estimate the instability of ventricular repolarization in pediatric patients with better accuracy. (c) 2011 Elsevier Inc. All rights reserved.
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日本未熟児新生児学会雑誌, 22(3) 437-437, Oct, 2010
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心電図, 29(4) 290-297, Oct, 2009 Peer-reviewed【目的】乳幼児から二次性徴前の児童における心周期と心室筋再分極過程の変動をvariability ratio(VR)から評価し、年齢による変化について検討した。【対象】心疾患を有さない乳児から就学時までの児童176名を、I群(生後0〜6ヵ月、17名)、II群(生後7〜11ヵ月、21名)、III群(1歳、28名)、IV群(2〜3歳、37名)、V群(4〜5歳、36名)、VI群(6〜7歳、37名)の6群に分類し比較検討した。【方法】安静時心電図から120心拍のRR間隔とQT時間の計測を行い、RR間隔の標準偏差(SDRR)とQT時間の標準偏差(SDQT)からVRを算出し、月齢との関係を求めた。【結果】各群でVR、SDRR、SDQTに性差を認めず、VRは年齢とともに減少し就学時には一定の値となった。年齢別基準値を用いることにより、自律神経系の生後発達を評価できる可能性が示唆された。(著者抄録)
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PEDIATRICS INTERNATIONAL, 51(2) 296-297, Apr, 2009 Peer-reviewed
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JOURNAL OF PHYSIOLOGICAL SCIENCES, 59 132-132, 2009
Books and Other Publications
2Presentations
8-
The 55th Annual Congress of JSPNM, Jul 13, 2019
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The 63th Annual Congress of JSNHD, Nov 22, 2018
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The 54th Annual Congress of JSPNM, Jul 8, 2018
Professional Memberships
4Research Projects
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科学研究費助成事業, 日本学術振興会, Apr, 2018 - Mar, 2023
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Grants-in-Aid for Scientific Research, Japan Society for the Promotion of Science, Apr, 2014 - Mar, 2017