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
52-
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.
215-
Therapeutic Research, 30(8) 1367-1374, 2009
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日本未熟児新生児学会雑誌, 20(2) 295-299, Jun, 2008 Peer-reviewed
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Euro J Perinat Med, 4(2) 29-32, 2008 Peer-reviewed
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藤田学園医学会誌, 30(2) 161-165, Dec, 2006慢性肺疾患(CLD)を発症した早産低出生体重児33例の血漿中のチトクロームc、腫瘍壊死因子α(TNF-α)、可溶性腫瘍壊死因子受容体(sTNFR)を測定した。15例がCLDを発症した(CLD群)。血漿チトクロームc、sTNFR、血漿TNF-αは、いずれも日齢0,3,5,7では、CLD群と対照群(18例)との間に大きな差はなかったが、日齢1では、CLD群の血漿チトクロームc、sTNFRは対照群よりも有意に高値を、血漿TNF-αは対照群よりも有意に低値を示した。CLDの病態にアポトーシスが関与し、血漿チトクロームc、sTNFRを測定することがCLDの発症、及び進展の予測に有用である可能性が示唆された。
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Perinatal medicine, 15 313-316, 2006 Peer-reviewed
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藤田学園医学会誌, 28(2) 159-163, Dec, 2004早産低出生体重児13例を対象に,脳波,眼球運動電位図,心電図,呼吸波を記録・解析し,日齢0と生後1ヵ月で比較した.日齢0から生後1ヵ月にかけて洞結節興奮周期(PP間隔)は有意な短縮を示し,房室結節伝導時間(PR間隔)は延長した.周波数特性をみると,PP,PRともに低周波数領域(LF)と高周波数領域(HF)の成分が増加し,呼吸周波数領域(RSA)の成分も増加していた.PP間隔の周波数解析で,LF/HFは日齢0の7.56から生後1ヵ月には3.28へと有意に低下し,RSA/全周波数領域(TF)は0.015から0.048に有意に増加していた.生理的な心周期に対する自律神経活動の増加と,呼吸性迷走神経活動の発現が示唆された.PRではLF/HFが0.86から1.37へと有意に増加したが,RSA/TFは0.138から0.125と有意な変化はなかった.房室伝導に対する交感神経活動は亢進していたが,呼吸迷走神経入力は微弱であり,房室伝導は呼吸以外の迷走神経系により優位に支配されていることが示唆された
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小児科臨床, 57(9) 1969-1974, Sep, 2004症例は女児で,在胎36週1日目に施行した胎児エコー検査で腹腔内に巨大な多房性嚢腫を認め,巨大嚢腫型胎便性腹膜炎(GCMP)の疑いで翌日緊急帝王切開術を行った.嚢腫による横隔膜圧迫のため出生直後から重篤な呼吸障害を呈し,新生児遷延性高血圧を合併したが,人工呼吸管理やサーファクタント投与,リポプロスタグランジンE1投与などにより救命しえた.全身状態の改善後に行った手術の術中所見から,小腸捻転による腸穿孔がGCMPの原因であったことが推測された
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Biology of Space Science, 17(3) 265-266, 2003 Peer-reviewed
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Biol. Sci. Space, 16(3) 215-216, Nov 1, 2002
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日本小児科学会雑誌, 106(6) 781-781, Jun, 2002
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