Faculty Profiles - MASUYAMA Hisashi

MISC - MASUYAMA Hisashi

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Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy

Nobuhiro Suzumori, Takeshi Ebara, Takahiro Yamada, Osamu Samura, Junko Yotsumoto, Miyuki Nishiyama, Kiyonori Miura, Hideaki Sawai, Jun Murotsuki, Michihiro Kitagawa, Yoshimasa Kamei, Hideaki Masuzaki, Fumiki Hirahara, Juan-Sebastian Saldivar, Nilesh Dharajiya, Haruhiko Sago, Akihiko Sekizawa

JOURNAL OF HUMAN GENETICS 61 ( 7 ) 647 - 652 2016.7

Language：English Publisher：NATURE PUBLISHING GROUP

The purpose of this noninvasive prenatal testing (NIPT) study was to compare the fetal fraction of singleton gestations by gestational age, maternal characteristics and chromosome-specific aneuploidies as indicated by z-scores. This study was a multicenter prospective cohort study. Test data were collected from women who underwent NIPT by the massively parallel sequencing method. We used sequencing-based fetal fraction calculations in which we estimated fetal DNA fraction by simply counting the number of reads aligned within specific autosomal regions and applying a weighting scheme derived from a multivariate model. Relationships between fetal fractions and gestational age, maternal weight and height, and z-scores for chromosomes 21, 18 and 13 were assessed. A total of 7740 pregnant women enrolled in the study, of which 6993 met the study criteria. As expected, fetal fraction was inversely correlated with maternal weight (P<0.001). The median fetal fraction of samples with euploid result (n=6850) and trisomy 21 (n=70) were 13.7% and 13.6%, respectively. In contrast, the median fetal fraction values for samples with trisomies 18 (n=35) and 13 (n=9) were 11.0% and 8.0%, respectively. The fetal fraction of samples with trisomy 21 NIPT result is comparable to that of samples with euploid result. However, the fetal fractions of samples with trisomies 13 and 18 are significantly lower compared with that of euploid result. We conclude that it may make detecting these two trisomies more challenging.

DOI： 10.1038/jhg.2016.25

Web of Science

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The effects of paternal high-fat diet exposure on offspring metabolism with epigenetic changes in the mouse adiponectin and leptin gene promoters

Hisashi Masuyama, Takashi Mitsui, Takeshi Eguchi, Shoko Tamada, Yuji Hiramatsu

AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM 311 ( 1 ) E236 - E245 2016.7

Language：English Publisher：AMER PHYSIOLOGICAL SOC

Recent studies have demonstrated that epigenetic changes resulting from malnutrition might play important roles in transgenerational links with metabolic diseases. Previously, we observed that exposure to a high-fat diet (HFD) in utero caused a metabolic syndrome-like phenomenon through epigenetic modifications of the adiponectin and leptin genes that persisted for multiple generations. Recent etiological studies indicated that paternal BMI had effects on offspring BMI that were independent of but additive to maternal BMI effects. Thus, we examined whether paternal HFD-induced obesity affected the metabolic status of offspring through epigenetic changes in the adiponectin and leptin genes. Additionally, we investigated whether a normal diet during subsequent generations abolished the epigenetic changes associated with paternal HFD exposure before conception. We observed the effects of paternal HFD exposure before conception over multiple generations on offspring metabolic traits, including weight and fat gain, glucose intolerance, hypertriglyceridemia, abnormal adipocytokine levels, hypertension, and adiponectin and leptin gene expression and epigenetic changes. Normal diet consumption by male offspring during the subsequent generation following paternal HFD exposure diminished whereas consumption for two generations completely abolished the effect of paternal HFD exposure on metabolic traits and adipocytokine promoter epigenetic changes in the offspring. The effects of paternal HFD exposure on offspring were relatively weaker than those following HFD exposure in utero. However, paternal HFD exposure had an additive metabolic effect for two generations, suggesting that both paternal and maternal nutrition might affect offspring metabolism through epigenetic modifications of adipocytokine genes for multiple generations.

DOI： 10.1152/ajpendo.00095.2016

Web of Science

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Glasgow prognostic score is an independent marker for poor prognosis with all cases of epithelial ovarian cancer

Chiaki Omichi, Keiichiro Nakamura, Junko Haraga, Hisashi Masuyama, Yuji Hiramatsu

CANCER MEDICINE 5 ( 6 ) 1074 - 1080 2016.6

Language：English Publisher：WILEY

Inflammatory markers are important prognostic factors in various cancers. This study investigated whether inflammatory markers of the Glasgow prognostic score (GPS) predicted progression-free survival (PFS) and overall survival (OS) for patients with all cases of epithelial ovarian cancer (OC). Pretreatment GPS was examined for the correlations with PFS and OS in 216 patients in all stages of epithelial OC. Statistical analyses were performed using the Mann-Whitney U-test. PFS and OS were analyzed using the Kaplan-Meier method. Cox's proportional hazard regression was used for univariate and multivariate analyses. For all patients, the median PFS was 35.1 months, and median OS was 46.7 months; follow-up range was 1-162 months. Kaplan-Meier analysis revealed that patients with high GPS (GPS 2) at pretreatment had a shorter PFS and OS than did patients with lower GPS (GPS 0 + 1) in for early, advanced, and all-stages of OC (PFS: P < 0.001 for early-, advanced- and all-stages; OS; P < 0.001 for early- and all-stage, P = 0.015 for advanced-stage). GPS (GPS 2) was also found to be an independent predictor of both recurrence (P = 0.002) and survival (P = 0.001) of all cases of epithelial OC by a multivariate analysis. GPS can serve as an indicator of poor prognosis in patients with all stages of epithelial OC, including early-stage disease and regardless of histology.

DOI： 10.1002/cam4.681

Web of Science

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有嚢性横隔膜ヘルニアの2例

牧尉太, 平野友美加, 玉田祥子, 江口武志, 光井崇, 延本悦子, 早田桂, 増山寿, 平松祐司

現代産婦人科 64 ( 2 ) 193 - 197 2016.5

Language：Japanese Publisher：中国四国産科婦人科学会

最近当科で経験した有嚢性横隔膜ヘルニア(CDH)の2例を報告する。【症例1】初産、38週3日、胎児心奇形を疑い当科に紹介受診し、超音波精査でCDH、完全口唇口蓋裂、及び総肺静脈還流異常症(TAPVC)が疑われた。MRI検査では横隔膜の挙上が認められた。肺胸郭断面積比は0.22-0.28であり他科との相談の上、経腟分娩可能と判断、39週3日2,552g、女児、AP-s 3/3点自然分娩で出生。46XX、dup(5)q31.1-q33.1部分トリソミー、出生後大動脈離断症(IAA)、心室中隔欠損(VSD)、卵円孔開存(PFO)、動脈管開存症(PDA)と診断。Stabilization後、日齢1、開腹下で縫縮術を施行、術後診断は左有嚢性CDHであった。日齢20、心臓手術施行、術後経過良好。現在経過観察中である。【症例2】1経妊1経産。在胎9週3日多発性海綿状血管腫合併妊娠のため、当科紹介受診。その後FGR傾向が認められたが、明らかな胎児異常は認められず、38週3日母体適応による選択的帝王切開を施行。2,400g、女児、AP-s 8/8点、出生後呼吸状態が悪化し挿管となった。胸部CT検査で原因不明の左横隔膜挙上と左肺虚脱を認め、左横隔膜弛緩症が疑われ、日齢0、当院NICU入院。日齢2、胸腔鏡下で縫縮術を施行。術後診断は有嚢性CDHであった。経過良好で退院。【考察】高率で他の先天異常を合併し、出生後治療に向け画像検査で正確な評価が必要となるCDHに対し、予後判定に有用な指標が確立されつつある。症例1はその予後判定を行い、経腟分娩を選択し生児を得た後、CDH縫縮術及び心臓手術を無事施行できた。出生前診断が困難であったCDH単独発症の1例と併せ文献的考察を絡め報告する。(著者抄録)

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胎児骨系統疾患の2例

衛藤英理子, 牧尉太, 玉田祥子, 江口武志, 光井崇, 平野友美加, 延本悦子, 早田桂, 増山寿, 平松祐司

現代産婦人科 64 ( 2 ) 159 - 164 2016.5

Language：Japanese Publisher：中国四国産科婦人科学会

【緒言】胎児骨系統疾患は非常に稀であり、疾患によって予後も様々であるため正確な出生前診断を行うことが重要である。2009年1月から2014年12月までの間に当院で周産期管理された胎児骨系統疾患の2例を報告する。【症例1】28歳、1経妊1経産。家族歴に骨系統疾患なし。妊娠17週に四肢短縮を指摘され妊娠22週に紹介初診となった。胎児超音波検査では四肢の全肢節に-6〜-8SD程度の短縮がみられ、全肢節重度短縮型骨系統疾患と考えられた。妊娠29週の胎児3D-CTでは大きな頭蓋冠と側頭部の膨隆、ベル型胸郭、長管骨の著しい彎曲短縮と受話器様大腿骨等を認め、タナトフォリック骨異形成症が強く疑われた。羊水過多による切迫早産のため妊娠30週より入院管理。骨盤位および児頭大横径の拡大のため妊娠38週1日に選択的帝王切開で身長39cm、体重2772g、頭囲38.5cm、胸囲28cmの男児をアプガースコア2/2点で出産した。児は出生後31分で死亡した。【症例2】37歳、3経妊2経産。家族歴に骨系統疾患なし。妊娠27週頃より胎児大腿骨の発育を認めないため妊娠31週に紹介初診となった。胎児超音波検査では中等度の四肢短縮を示し、特に上腕骨や大腿骨で-5SD程度の短縮がみられ、近位肢節短縮型骨系統疾患と考えられた。妊娠29週の胎児3D-CTでは頭蓋冠の拡大、長管骨骨幹端のcupping、大腿骨の軽度彎曲像等を認め、軟骨無形成症が疑われた。骨盤位のため妊娠39週2日に選択的帝王切開で身長46cm、体重2898g、頭囲36.5cm、胸囲28cmの男児をアプガースコア8/9点で出産した。新生児の遺伝子検査で4p16.3にあるFGFR3遺伝子に変異が認められ、軟骨無形成症と診断された。現在外来管理中である。【結語】胎児超音波検査や3D-CT検査、遺伝子診断により正確な出生前診断を行うことができた。(著者抄録)

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胎児心臓腫瘍の3症例

衛藤英理子, 牧尉太, 玉田祥子, 江口武志, 光井崇, 平野友美加, 高原悦子, 早田桂, 増山寿, 平松祐司

超音波医学 43 ( 2 ) 311 - 315 2016.3

Language：Japanese Publisher：(公社)日本超音波医学会

稀な疾患である胎児心臓腫瘍を3例経験したので報告する.症例1は30歳の経産婦で,妊娠38週0日に当院へ紹介となった.胎児超音波検査では心室中隔から左心室内に径13mm大の高輝度腫瘤を認め一部が左室流出路に突出していた.妊娠39週1日3,966gの男児を経腟分娩した.日齢1に腫瘍切除術を行い組織診断は横紋筋腫であった.生後2ヵ月半の頭部MRI検査で結節性硬化症と診断され,てんかんを合併している.5歳の時点で腫瘍の再発は認めていない.症例2は30歳の経産婦で,妊娠29週5日に当院へ紹介となった.胎児超音波検査では左心室内,右心室内,右心房内にそれぞれ径14mm,17mm,5mm大の高輝度腫瘤を認めた.妊娠39週5日2,866gの女児を経腟分娩した.生後日齢3の頭部CT検査で結節性硬化症と診断され,てんかんを合併している.3歳の時点で腫瘍は不変である.症例3は36歳の初産婦で,妊娠19週5日当院へ紹介となった.胎児超音波検査では左心室内に径10mm大の高輝度腫瘤を認めた.妊娠37週4日に3,006gの女児を経腟分娩した.日齢13に心室頻拍を認め抗不整脈薬で治療を開始した.9ヵ月の時点で腫瘍は不変である.胎児心臓腫瘍の予後不良因子は腫瘍径20mm以上,胎児不整脈,胎児水腫といわれている.胎児診断の重要性を再認識するとともに,更なる予後因子の検討のためにも症例を蓄積することは意義深い.(著者抄録)

DOI： 10.3179/jjmu.JJMU.A.52

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P3-52-4 不育症に対する妊娠早期の低用量アスピリン投与(ASA)の妊娠高血圧症候群の予防効果について(Group 117 妊娠高血圧症候群3,一般演題,公益社団法人日本産科婦人科学会第68回学術講演会)

平野友美加, 増山寿, 江口武志, 玉田祥子, 光井崇, 衛藤英理子, 延本悦子, 早田桂, 酒本あい, 小谷早葉子, 鎌田泰彦, 平松祐司

日本産科婦人科學會雜誌 68 ( 2 ) 985 - 985 2016