Updated on 2024/10/01

Information

 

写真a

 
EGAMI NAOKI
 
Organization
Kyushu University Hospital Comprehensive Maternity and Perinatal Care Center Assistant Professor
Title
Assistant Professor

Degree

  • Doctor of Philosophy (Medical Science)

Papers

  • Vitamin K prophylaxis in neonates: comparing two different oral regimens

    Takahashi, D; Egami, N; Ochiai, M; Hotta, T; Suga, S; Ishimura, M; Kawaguchi, C; Uchiumi, T; Nishikubo, T; Nogami, K; Goto, K; Ohga, S

    JOURNAL OF PERINATOLOGY   44 ( 10 )   1491 - 1495   2024.4   ISSN:0743-8346 eISSN:1476-5543

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    Language:English   Publisher:Journal of Perinatology  

    Objective: This prospective study compared PIVKA-II and PT-INR levels in infants who received two vitamin K (VK) prophylactic regimens. Methods: A single institution administered 119 healthy newborns 2 mg of VK syrup. Infants were assigned to a 3-time regimen (n = 56) with VK at birth, five days (5D), and 1-month-old (1 M), or a 13-time regimen (n = 63) with VK at birth, 5D, and then weekly for 11 weeks. Results: The 13-time regimen significantly lowered PIVKA-II and reduced PT-INR at 1 M in both breastfed (PIVKA-II: 18–16 mAU/mL, p = 0.02; PT-INR: 1.37–1.13, p < 0.01) and formula-fed infants (PIVKA-II: 18–15 mAU/mL, p = 0.01; PT-INR: 1.54–1.24, p < 0.01), compared to baseline measurements taken at 5D. The 3-time regimen did not significantly alter PIVKA-II levels and only improved PT-INR (2.00–1.50, p < 0.01) in formula-fed infants. Conclusion: The 13-time VK regimen significantly enhanced coagulation profiles more effectively than the 3-time regimen.

    DOI: 10.1038/s41372-024-01981-9

    Web of Science

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  • The clinical and genetic landscape of early-onset thrombophilia in Japan

    Egami, N; Ishimura, M; Ochiai, M; Ichiyama, M; Inoue, H; Suenobu, S; Nishikubo, T; Nogami, K; Ishiguro, A; Hotta, T; Uchiumi, T; Kang, DC; Ohga, S

    PEDIATRIC BLOOD & CANCER   71 ( 3 )   e30824   2024.3   ISSN:1545-5009 eISSN:1545-5017

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    Language:English   Publisher:Pediatric Blood and Cancer  

    Objectives: To determine the optimal management for early-onset thrombophilia (EOT), the genetic and clinical features of protein C (PC)-, protein S (PS)-, or antithrombin (AT)-deficient patients of ≤20 years of age were studied in Japan. Methods/results: Clinical and genetic information of all genetically diagnosed cases was collected through the prospective, retrospective study, and literature review. One-hundred-one patients had PC (n = 55), PS (n = 29), or AT deficiency (n = 18). One overlapping case had PC- and PS-monoallelic variant. Fifty-five PC-deficient patients (54%) had 26 monoallelic or 29 biallelic variant(s), and 29 (29%) PS-deficient patients had 20 monoallelic or nine biallelic variant(s). None of the patients had AT-biallelic variants. The frequent low-risk allele p.K193del (PC-Tottori) was found in five patients with monoallelic (19%) but not 29 with biallelic variant(s). The most common low-risk allele p.K196E (PS-Tokushima) was found in five with monoallelic (25%) and six with biallelic variant(s) (67%). One exceptional de novo PC variant was found in 32 families with EOT. Only five parents had a history of thromboembolism. Thrombosis concurrently developed in three mother–newborn pairs (two PC deficiency and one AT deficiency). The prospective cohort revealed the outcomes of 35 patients: three deaths with PC deficiency and 20 complication-free survivors. Neurological complications were more frequently found in patients with PC-biallelic variants than those with PC-, PS-, or AT-monoallelic variants (73% vs. 24%, p =.019). Conclusions: We demonstrate the need for elective screening for EOT targeting PC deficiency in Japan. Early prenatal diagnosis of PC deficiency in mother–infant pairs may prevent perinatal thrombosis in them.

    DOI: 10.1002/pbc.30824

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  • 特集 子どもの検査値の判断に迷ったら 5章 血液凝固・線溶系検査 1.検査の種類と原理・読み取り方とその限界

    江上 直樹, 石村 匡崇, 堀田 多恵子, 大賀 正一

    小児科   64 ( 13 )   1437 - 1443   2023.12   ISSN:00374121

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    Publisher:金原出版  

    DOI: 10.18888/sh.0000002834

    CiNii Research

  • 増大号 匠から学ぶ 血栓止血検査ガイド 5章 疾患まとめ 小児領域のDIC

    江上 直樹, 落合 正行, 石村 匡崇, 大賀 正一

    検査と技術   51 ( 9 )   1101 - 1105   2023.9   ISSN:03012611 eISSN:18821375

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    Publisher:株式会社医学書院  

    DOI: 10.11477/mf.1543209120

    CiNii Research

  • Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn

    Shirozu, H; Ichiyama, M; Ishimura, M; Ayako, K; Egami, N; Dongchon, K; Nakano, T; Sagawa, K; Ohga, S

    AJP REPORTS   13 ( 03 )   E44 - E48   2023.7   ISSN:2157-6998 eISSN:2157-7005

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    Language:English   Publisher:AJP Reports  

    Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase (MTHFR) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.

    DOI: 10.1055/a-2101-7738

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  • Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome

    Tanaka, A; Sakaguchi, Y; Inoue, H; Egami, N; Sonoda, Y; Sonoda, M; Ishimura, M; Ochiai, M; Hotta, T; Uchiumi, T; Sakai, Y; Ohga, S

    PEDIATRIC BLOOD & CANCER   70 ( 4 )   e30047   2023.4   ISSN:1545-5009 eISSN:1545-5017

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    Language:English   Publisher:Pediatric Blood and Cancer  

    DOI: 10.1002/pbc.30047

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  • Genetic predisposition to early-onset thrombophilia: a study on challenges in personalized medicine for mothers, infants, and children

    OHGA Shouichi, EGAMI Naoki, HOTTA Taeko, UCHIUMI Takeshi, OCHIAI Masayuki, ISHIMURA Masataka

    Rinsho Ketsueki   64 ( 9 )   1131 - 1136   2023   ISSN:04851439 eISSN:18820824

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    Language:Japanese   Publisher:The Japanese Society of Hematology  

    <p>The number of reports on genetic predisposition to pediatric thrombosis is increasing. The risk of thrombosis in childhood varies according to patient age, and the contribution of genetic predisposition also differs. The term early-onset thrombophilia, which occurs until the age of 20 years in patients with genetic diagnosis, was defined. Then, the registry in Japan was established. Further, publications were reviewed comprehensively, and results revealed the genetic and clinical characteristics of patients. Less than 60% of patients presented with protein C (PC) deficiency, and over half of them had PC-gene monoallelic variants. The number of patients with protein S or antithrombin deficiency increased with age. None of them were aged between 6 and 8 years. PC-Tottori and protein S-Tokushima, which are high-frequency and low-risk variants in Japanese, contributed to the development of thrombosis. However, PC-Tottori did not affect the development of severe PC deficiency. One exceptional <i>de novo</i> PC-deficient variant was identified in 32 EOT families, and thrombosis developed concurrently in three pairs of mothers-newborns. Appropriate EOT screening tests targeting PC deficiency are required to prevent maternal and neonatal thromboses.</p>

    DOI: 10.11406/rinketsu.64.1131

    PubMed

    CiNii Research

  • Pediatric pulmonary veno-occlusive disease associated with a novel <i>BMPR2</i> variant

    Takemori, W; Yamamura, K; Tomita, Y; Egami, N; Eguchi, K; Nagata, H; Shirouzu, H; Ishikawa, Y; Nakajima, D; Yoshizawa, A; Date, H; Ohga, S

    PEDIATRIC PULMONOLOGY   57 ( 5 )   1366 - 1369   2022.5   ISSN:8755-6863 eISSN:1099-0496

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    Language:English   Publisher:Pediatric Pulmonology  

    Pulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive PH on the distinct genetic impact. A 29-month-old boy presented with a loss of consciousness. He had severe PH refractory to pulmonary vasodilators. Hypoxemia and ground-glass opacity on the chest computed tomography were present, and significant pulmonary edema developed after the introduction of continuous intravenous prostaglandin I2. Based on the clinical diagnosis of PVOD, he underwent a single living-donor lobar lung transplantation with the right lower lobe of his mother. The pathological findings of his explanted lung showed intimal thickening and luminal narrowing of the pulmonary vein. A genetic test revealed a novel heterozygous splice acceptor variant (c.77-2A>C) in BMPR2, which is typically associated with I/HPAH. This is the first pediatric case of PVOD with BMPR2 variant, supporting the concept that I/HPAH and PVOD are part of a spectrum of pulmonary vascular disease.

    DOI: 10.1002/ppul.25877

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Presentations

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MISC

  • 【血液症候群(第3版)-その他の血液疾患を含めて-】血栓形成性疾患 先天性血栓形成性疾患 先天性プロテインC欠乏症/異常症

    江上 直樹, 石村 匡崇, 大賀 正一

    日本臨床   別冊 ( 血液症候群V )   260 - 265   2024.3   ISSN:0047-1852

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    Language:Japanese   Publisher:(株)日本臨床社  

  • 【子どもの検査値の判断に迷ったら】(5章)血液凝固・線溶系検査 検査の種類と原理・読み取り方とその限界

    江上 直樹, 石村 匡崇, 堀田 多恵子, 大賀 正一

    小児科   64 ( 13 )   1437 - 1443   2023.12   ISSN:0037-4121

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    Language:Japanese   Publisher:金原出版(株)  

    <文献概要>KEY POINTS ・小児の血液凝固・線溶系検査は,まれな重症疾患の治療開始時期を逸せぬよう,最小の検査項目数と検体量で迅速に施行し,結果を正しく判断する.・適切な検査項目を選択するために,凝固系,凝固制御系,線溶系の年齢に応じた成熟過程を理解し,検査項目ごとに特徴を把握する.・凝固と線溶は生体防御のため相反する機能の複雑な制御系である.成人患者よりも検体採取手技の影響も受けやすいため,1つの検査結果だけでなく複数の結果から複合的に凝固・線溶系の状態を把握することが重要である.

  • 【匠から学ぶ 血栓止血検査ガイド】(5章)疾患まとめ 小児領域のDIC

    江上 直樹, 落合 正行, 石村 匡崇, 大賀 正一

    検査と技術   51 ( 9 )   1101 - 1105   2023.9   ISSN:0301-2611

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    Language:Japanese   Publisher:(株)医学書院  

  • 栓友病と遺伝性血栓性素因 母子を守る個別医療へ

    大賀 正一, 江上 直樹, 堀田 多恵子, 内海 健, 落合 正行, 石村 匡崇

    臨床血液   64 ( 9 )   1131 - 1136   2023.9   ISSN:0485-1439

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    Language:Japanese   Publisher:(一社)日本血液学会-東京事務局  

    小児血栓症患者における遺伝素因の報告が増えている。小児期は年齢ごとに発症リスクが異なり,遺伝素因の寄与度も様々である。20歳までに発症する血栓症のうち遺伝素因が関与するものを"早発型遺伝性血栓症(early-onset thrombophilia,EOT)"として登録し,網羅的文献検索と併せて本邦患者の遺伝的背景と臨床経過を明らかにした。患者の60%以上をプロテインC(PC)欠乏症が占め,その半分以上が片アレル変異の保有者だった。年齢とともにプロテインS(PS)およびアンチトロンビン欠乏症が増加して主体となった。6~8歳の発症はなかった。日本人高頻度・低リスクバリアントのPC-TottoriとPS-Tokushimaも確認されたが,前者は重症PC欠乏症の発症に寄与していなかった。解析した32家系中de novo発症は1家系のみで,周産期の同時発症母子例が3家系あった。PC欠乏症を標的に適切なEOTスクリーニングを行って周産期血栓症から母子を守ることが期待される。(著者抄録)

  • 血栓性素因スクリーニングの臨床的意義 新生児血栓症の全国調査からの洞察

    江上 直樹, 落合 正行, 市山 正子, 井上 普介, 園田 素史, 石村 匡崇, 堀田 多恵子, 内海 健, 康 東天, 大賀 正一

    日本産婦人科・新生児血液学会誌   32 ( 2 )   51 - 58   2023.3   ISSN:0916-8796

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    Language:Japanese   Publisher:日本産婦人科・新生児血液学会  

    新生児期の血栓症は希少な事例と考えられてきたが、医療の高度化と疾患認識の広がりにより報告数が増加している。さらに、日本人小児の血栓性素因における遺伝性プロテインC欠乏症の重要性が示されてきた。今回私たちは新生児血栓症の全国調査を行い、遺伝性プロテインC欠乏症の遺伝学的効果と、遺伝学的検査の悉皆性を示すことができた。今後は調査対象を小児から成人に達するまでに拡大し、小児患者とその家族を血栓症から守る個別化医療の確立を目指す。(著者抄録)

  • スナップショット 興味深い!症例を画像から学ぶ(第1回) プロテインC欠乏症

    江上 直樹, 落合 正行, 石村 匡崇, 大賀 正一

    Thrombosis Medicine   12 ( 4 )   299 - 301   2022.12   ISSN:2186-0327

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    Language:Japanese   Publisher:(株)先端医学社  

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