原著

1. Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in

   PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling

 

   Yasuki Ishihara , Yasuhisa Ohata , Shinji Takeyari , Taichi Kitaoka , Makoto Fujiwara , 

   Yukako Nakano ,Kenichi Yamamoto , Chieko Yamada , Katsusuke Yamamoto , Toshimi Michigami

   Hiroyo Mabe , Takeshi Yamaguchi , Katsuyuki Matsui , Izumi Tamada , Noriyuki Namba ,  

   Akiko Yamamoto ,Junya Etoh , Azusa Kawaguchi , Rieko Kosugi , Keiichi Ozono , Takuo Kubota

 

   Bone. 2021 Dec:153:116135. doi: 10.1016/j.bone.2021.116135. Epub 2021 Jul 30.

 

2. The process by which mothers of children with specialhealthcare needs evolve their 

   connections with the community

 

   Mio Kikuhara RN, PHN, MSN,|  Kumiko Hirakami RN, PhD|Akiko Tamasaki MD, PhD|  

   Yoshihiro Maegaki MD, PhD|  Keiichi Hanaki MD, PhD

 

   Nurs Health Sci. 2021 Dec;23(4):957-966. doi: 10.1111/nhs.12887. Epub 2021 Nov 12.

 

3. A high-risk alveolar rhabdomyosarcoma case with Duchenne muscular dystrophy

 

   Keisuke Okuno,Daisuke Kawaba,Atsushi Maejima,Sosuke Kakee,Noriyuki Namba

 

   Pediatr Int. 2022 Jan;64(1):e14754. doi: 10.1111/ped.14754. Epub 2021 Nov 10.

 

4. Clinical and histological features in pediatric and adolescent/young adult patients with 

   renal disease: a cross-sectional analysis of the Japan Renal Biopsy Registry (J-RBR)

 

   Maki Urushihara , Hiroshi Sato , Akira Shimizu , Hitoshi Sugiyama , Hitoshi Yokoyama , 

   Hiroshi Hataya , Kentaro Matsuoka , Takayuki Okamoto , Daisuke Ogino , Kenichiro Miura ,

   Riku Hamada , Satoshi Hibino , Yuko Shima , Tomohiko Yamamura , Koichi Kitamoto , 

   Masayuki Ishihara , Takao Konomoto , Motoshi Hattori , the Committee for Renal Biopsy 

   and Disease Registry of the Japanese Society of Nephrology

 

   Clin Exp Nephrol. 2021 Sep;25(9):1018-1026. doi: 10.1007/s10157-021-02077-w. Epub 2021 

   May 28.

 

5. Photoperiod-independent testicular development in the model newt Pleurodeles waltl

 

   Mitsuki Kyakuno,Rei Nakamori,Ichiro Tazawa,Hitoshi Uemasu,Noriyuki Namba,

   Naoki Tsunekawa,Toshiaki Noce,Yukio Satoh,Takashi Takeuchi,Toshinori Hayashi

 

   Dev Growth Differ. 2021 Aug;63(6):277-284. doi: 10.1111/dgd.12738. Epub 2021 Jul 7.

 

6. Secreted matrix metalloproteinase-14 is a predictor for antifibrotic effect of IC-2-engineered 

   mesenchymal stem cell sheets on liver fibrosis in mice

 

   Kenji Fukushima , Noriko Itaba , Yohei Kono , Shizuma Okazaki , Shinpei Enokida , 

   Naomi Kuranobu , Jun Murakami , Makoto Enokida , Hideki Nagashima , Susumu Kanzaki, 

   Noriyuki Namba , Goshi Shiota

 

   Regen Ther. 2021 Aug 26:18:292-301. doi: 10.1016/j.reth.2021.08.004. eCollection 2021 Dec.

 

7. Prenatal clinical manifestations in individuals with COL4A1/2 variants

 

   Toshiyuki Itai , Satoko Miyatake , Masataka Taguri , Fumihito Nozaki , Masayasu Ohta , 

   Hitoshi Osaka , Masafumi Morimoto , Tomoko Tandou , Fumikatsu Nohara , Yuichi Takami , 

   Fumitaka Yoshioka , Shoko Shimokawa , Jiu Okuno-Yuguchi , Mitsuo Motobayashi , 

   Yuko Takei , Tetsuhiro Fukuyama , Satoko Kumada , Yohane Miyata , Chikako Ogawa , Yuki Maki 

   Noriko Togashi , Teruyuki Ishikura , Makoto Kinoshita , Yusuke Mitani , Yonehiro Kanemura , 

   Tsuyoshi Omi , Naoki Ando , Ayako Hattori , Shinji Saitoh , Yukihiro Kitai , Satori Hirai , 

   Hiroshi Arai , Fumihiko Ishida , Hidetoshi Taniguchi , Yasuji Kitabatake , Keiichi Ozono , 

   Shin Nabatame , Robert Smigiel , Mitsuhiro Kato , Koichi Tanda , Yoshihiko Saito , 

   Akihiko Ishiyama , Yushi Noguchi , Mazumi Miura , Takaaki Nakano , Keiko Hirano , 

   Ryoko Honda, Ichiro Kuki , Jun-Ichi Takanashi , Akihito Takeuchi , Tatsuya Fukasawa , 

   Chizuru Seiwa , Atsuko Harada , Yusuke Yachi , Hiroyuki Higashiyama , Hiroshi Terashima , 

   Tadayuki Kumagai , Satoshi Hada , Yoshiichi Abe , Etsuko Miyagi , Yuri Uchiyama , Atsushi Fujita

    Eri Imagawa , Yoshiteru Azuma , Kohei Hamanaka , Eriko Koshimizu , Satomi Mitsuhashi , 

   Takeshi Mizuguchi, Atsushi Takata , Noriko Miyake , Yoshinori Tsurusaki , Hiroshi Doi , 

   Mitsuko Nakashima , Hirotomo Saitsu , Naomichi MatsumotoLeanne M Ward , 

   Francis H Glorieux , Michael P Whyte , Craig F Munns , Anthony A Portale ,

 

   J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020

   Jul 30.

 

8. Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and 

   Similarities to Those of INSR Variants

 

   Jun Hosoe , Yuki Kawashima-Sonoyama , Fuyuki Miya , Hiroko Kadowaki , Ken Suzuki , 

   Takashi Kato , Fumiko Matsuzawa , Sei-Ichi Aikawa , Yukinori Okada , Tatsuhiko Tsunoda , 

   Keiichi Hanaki , Susumu Kanzaki , Nobuhiro Shojima , Toshimasa Yamauchi , Takashi Kadowaki

 

   Diabetes. 2021 Aug;70(8):1874-1884. doi: 10.2337/db20-1145. Epub 2021 Jun 1.

 

9. The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

 

   Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, 

   Satoshi Narumi & Noriyuki Namba

 

   Hum Genome Var. 2021 Jul 12;8(1):27. doi: 10.1038/s41439-021-00158-6.

 

10. Cryo-injury procedure-induced cardiac regeneration shows unique gene expression profiles  

   in the newt Pleurodeles waltl

 

   Hitoshi Uemasu , Hiromi Ikuta , Takeshi Igawa , Makoto Suzuki , Mitsuki Kyakuno , Yui Iwata ,

    Ichiro Tazawa, Hajime Ogino , Yukio Satoh , Takashi Takeuchi , Noriyuki Namba

   Toshinori Hayashi 

 

   Dev Dyn. 2022 May;251(5):864-876. doi: 10.1002/dvdy.450. Epub 2022 Jan 17.

 

11. De novo ATP1A3 variants cause polymicrogyria

 

   Satoko Miyatake , Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, 

   Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, 

   Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, 

   Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, 

   Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, 

   Hideyuki Asai , Nodoka Hinokuma, Fuyuki Miya, Tatsuhiko Tsunoda, Masami Togawa, 

   Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, 

   Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, 

   Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, 

   Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto

 

   Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar.

 

12. Genetic causes of growth hormone insensitivity beyond GHR

 

   Vivian Hwa , Masanobu Fujimoto , Gaohui Zhu , Wen Gao , Corinne Foley , 

   Meenasri Kumbaji , Ron G Rosenfeld Affiliations expand

 

   Rev Endocr Metab Disord. 2021 Mar;22(1):43-58. doi: 10.1007/s11154-020-09603-3. 

   Epub 2020 Oct 8.

 

13. Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 

   3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked 

   Hypophosphatemia

 

   Raja Padidela , Michael P Whyte , Francis H Glorieux , Craig F Munns , Leanne M Ward , 

   Ola Nilsson , Anthony A Portale , Jill H Simmons , Noriyuki Namba , Hae Il Cheong , 

   Pisit Pitukcheewanont , Etienne Sochett , Wolfgang Högler , Koji Muroya , Hiroyuki Tanaka , 

   Gary S Gottesman , Andrew Biggin

 

   Calcif Tissue Int. 2021 May;108(5):622-633. doi: 10.1007/s00223-020-00797-x. Epub 2021 

   Jan 23.

 

14. Newly formulated GROWJECT ® is bioequivalent to the prior GROWJECT ® formulation and 

   causes less injection-associated pain

 

   Yasuko Owada , Yuuka Asano , Takashi Hanada , Hidehito Yasukawa , Mariko Yamaoka , 

   Yoko Mita , Noriyuki Namba

 

   Clin Pediatr Endocrinol. 2021;30(1):35-40. doi: 10.1297/cpe.30.35. Epub 2021 Jan 5.

 

15. Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression

 

   Satoshi Narai , Yuki Kawashima-Sonoyama , Masanobu Fujimoto , Mazumi Miura , 

   Kaori Adachi , Eiji Nanba , Noriyuki Namba

 

   Yonago Acta Med. 2021 Jan 20;64(1):57-66. doi: 10.33160/yam.2021.02.009. eCollection 

   2021 Feb.

 

16. Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using 

   Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases

 

   Nishimura A, Aoki Y, Ishiwata Y, Ichimura T, Ueyama J, Kawahara Y, Tomoda T, Inoue M, 

   Matsumoto K, Inoue K, Hiroki H, Ono S, Yamashita M, Okano T, Tanaka-Kubota M, 

   Ashiarai M, Miyamoto S, Miyawaki R, Yamagishi C, Tezuka M, Okawa T, Hoshino A, Endo A, 

   Yasuhara M, Kamiya T, Mitsuiki N, Ono T, Isoda T, Yanagimachi M, Tomizawa D, Nagasawa M, 

   Mizutani S, Kajiwara M, Takagi M, Kanegane H, Imai K, Morio T.

 

   J Clin Immunol. 2021 Jul;41(5):944-957. doi: 10.1007/s10875-021-00966-z. Epub 2021 Feb 1.

 

17. 低身長小児の体格イメージへの肥満傾向・痩せ傾向の関与について タッチパネル式デバイスの

   正常身長小児への適用について

 

   花木 啓一, 金山 俊介, 長谷川 慶幸, 木村 真司, 西村 直子, 難波 範行, 長石 純一, 片山 威, 梶 俊策

 

   成長科学協会研究年報(0386-7617)44号 Page41-45(2021.12)

 

18. 炭化水素類液剤の誤嚥により気腫性変化をきたした化学性肺炎の一例

 

   辻本美沙, 佐野仁志, 西村玲, 田中雄二, 村上潤 

 

   日本小児救急医学会雑誌(1346-8162)20巻3号 Page451-454(2021.11)

 

19. 長期間滞留し気管支内肉芽・無気肺をきたした気管支異物の一例―定型的な病歴を欠く

   気管支異物の早期診断方法の考察―

 

   藤森大輔, 熊崎健介, 吉岡和樹, 川場大輔, 小野将太, 杉本守治, 梶 俊策, 谷本光隆

 

   津山中央病院医学雑誌(0913-9176)35巻1号 Page43-49(2021.09)

 

20. 免疫性血小板減少性紫斑病の発症を契機に診断されたSjoegren症候群の小児例

 

   中島由希子, 奥野啓介, 前島 敦, 川場大輔, 掛江壮輔, 北本晃一, 横山浩己, 山田祐子, 梶 俊策, 

   難波範行

 

   津山中央病院医学雑誌(0913-9176)35巻1号 Page35-42(2021.09)

 

21. 大腸憩室穿孔を契機に診断された褐色細胞腫を伴う小児MEN2Bの1例

 

   関井 洋輔, 氏家 剛, 永原 啓, 藤田 和利, 植村 元秀, 木内 寛, 今村 亮一, 宮川 康, 中山 尋文, 

   難波 範行, 大割 貢, 出口 幸一, 野々村 祝夫

 

   泌尿器科紀要(0018-1994)67巻8号 Page363-366(2021.08)

 

22. 当院における川崎病患者に対する3rd line治療としてのステロイドパルス療法の有効性の検討

 

   上桝仁志, 坂田晋史, 上田善之, 清水敬太, 山﨑隼太郎, 美野陽一, 難波範行

 

   鳥取医学雑誌(0388-3795)49巻1-2号 Page20-24(2021.08)

 

23. 血栓性微小血管症で発症し血漿交換療法が奏功した全身性エリテマトーデスの女児例

 

   宇山祥, 北本晃一, 西村 玲, 横山浩己, 山田祐子, 岡田晋一, 難波範行

 

   小児科臨床(0021-518X)74巻5号 Page541-546(2021.05)

 

24. 巨大骨盤原発Ewing肉腫ファミリー腫瘍に対し,外科的切除せず大量化学療法と放射線療法を行った

   一例

 

   掛江 壮輔, 奥野 啓介, 前島 敦, 川場 大輔, 難波 範行

 

   日本小児血液・がん学会雑誌(2187-011X)58巻3号 Page296-300(2021.11)

 

25. 一般小児科外来における小児早期警告スコアリングシステムの有用性の検討

 

   埴岡 由樹, 原田 大輔, 亀島 こずえ, 上山 薫, 折山 恭子, 阪本 夏子, 近藤 可愛, 泉井 雅史, 長松 有衣子, 

   柏木 博子, 山室 美穂, 神薗 淳司, 難波 範行, 山田 寛之

 

   小児科臨床(0021-518X)74巻4号 Page463-467(2021.04)