原著:Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamoto N, Fukami M, Kato F, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation. Endocr J. 2021 ; endocrj. EJ20-0706
総説:Tanaka M, Natsume J, Hamano S, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima S, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H. The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. Brain Dev 2020; 42: 28-34
2020.01.17
循環器
Kromrey ML, Kise H, Hirose J, Yoshizawa M, Toda T, Kono Y, Sunaga Y, Johno H, Funayama S, Onishi H, Johnson K, Wieben O, Motosugi U. Right Pulmonary VeinAtresia in a Mildly Symptomatic Boy: Comprehensive Analysis of Flow Dynamics Using Non-contrast-enhanced 4D Flow MR Imaging. Magn Reson Med Sci. 2020 Jan 17. doi: 10.2463/mrms.ici.2019-0109. [Epub ahead of print]
2020.03.06
血液・腫瘍
原著:Goto H, Yoshino Y, Ito M, Nagai J, Kumamoto T, Inukai T, Sakurai Y, Miyagawa N, Keino D, Yokosuka T, Iwasaki F, Hamanoue S, Shiomi M, Goto S. Aurora B kinase as a therapeutic target in acute lymphoblastic leukemia. Cancer Chemother Pharmacol. 85(4):773-783. 2020
2020.04.28
神経・発達
総説:相原正男. 発達障害. Clinica Neuroscience 2020; 38
2020.05.21
血液・腫瘍
原著:Kumar R, Pereira RS, Zanetti C, Minciacchi VR, Merten M, Meister M, Niemann J, Dietz MS, Rüssel N, Schnütgen F, Tamai M, Akahane K, Inukai T, Oellerich T, Kvasnicka HM, Pfeifer H, Nicolini FE, Heilemann M, Van Etten RA, Krause DS. Specific, targetable interactions with the microenvironment influence imatinib-resistant chronic myeloid leukemia. Leukemia. 34(8):2087-2101, 2020
原著:Akahane K, Yasuda T, Tsuzuki S, Hayakawa F, Kiyokawa N, Somazu S, Watanabe A, Kagami K, Abe M, Harama D, Goi K, Kawazu M, Kojima S, Imamura T, Goto H, Iwamoto S, Minegishi M, Abe M, Hojo H, Inaba T, Mano H, Sugita K, Inukai T. High prevalence of MEF2D fusion in human B-cell precursor acute lymphoblastic leukemia cell lines. Hematol Oncol. 38(4):614-617, 2020
2020.06.09
遺伝・内分泌・代謝
症例報告:Watanabe D, Yagasaki H, Ishii S, Mitsui Y, Nakane T, Inukai T. A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset. Pediatr Neonatol. 2020;61:114-116.
2020.06.10
神経・発達
原著:Kaga Y, Ueda R, Tanaka M, Kita Y, Suzuki K, Okumura Y, Egashira Y, Shirakawa Y, Mitsuhashi S, Kitamura Y, Nakagawa E, Yamashita Y, Inagaki M. Executive dysfunction in medication-naïve children with ADHD: A multi-modal fNIRS and EEG study. Brain Dev 2020; 42: 555-563
2020.06.13
神経・発達
原著:Kanemura H, Sano F, Hoshino H, Takayama K, Aihara M. Effects of perampanel on secondary bilateral synchrony and behavioral problems in adolescents with epilepsy showing insufficient response with levetiracetam. Seizure 2020; 80: 131-137
2020.07.07
神経・発達
原著:Ueda R, Kaga Y, Kita Y, Iwasaki M, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Nakagawa E, Sugai K, Sasaki M, Inagaki M. Adaptive behavior and its related factors in children with focal epilepsy. Epilepsy Behav. 2020; doi: 10.1016/j.yebeh.2020.107092.
2020.07.16
血液・腫瘍
原著:Ohki K, Takahashi H, Fukushima T, Nanmoku T, Kusano S, Mori M, Nakazawa Y, Yuza Y, Migita M, Okuno H, Morimoto A, Yoshino H, Kato M, Hayashi Y, Manabe A, Ohara A, Hasegawa D, Inukai T, Tomizawa D, Koh K, Kiyokawa N; Tokyo Children’s Cancer Study Group (TCCSG). Impact of immunophenotypic characteristics on genetic subgrouping in childhood acute lymphoblastic leukemia: Tokyo Children’s Cancer Study Group (TCCSG) study L04-16. Genes Chromosomes Cancer. 59(10):551-561. 2020
症例報告:Watanabe D, Yagasaki H, Kojika S, Inukai T. 21-Hydroxylase deficiency associated with an atypical CYP21A2 E6 cluster containing p.I236K. Pediatr Neonatol. 2020 ;61:457-458
2020.08.07
循環器
原著:Kono Y, Yokota S, Fukushi I, Arima Y, Onimaru H, Okazaki S, Takeda K, Yazawa I, Yoshizawa M, Hasebe Y, Koizumi K, Pokorski M, Toda T, Sugita K, Okada Y. Structural and functional connectivity from the dorsomedial hypothalamus to the ventral medulla as a chronological amplifier of sympathetic outflow. Sci Rep. 2020 Aug 7;10(1):13325.
2020.08.29
神経・発達
原著:Ueda R, Kaga Y, Kita Y, Tanaka M, Iwasaki M, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Nakagawa E, Sugai K, Sasaki M, Okada T, Inagaki M. Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy. Brain Dev. 2020; doi: 10.1016/j.braindev.2020.08.005
2020.09.02
神経・発達
症例報告:Sano F, Fukao T, Tamaru K, Kanemura H, Inukai T, Aihara M. Clinically Mild Encephalopathy With a Reversible Splenial Lesion Type 2 Caused by Human Herpesvirus 6 Infection. Pediatr Neurol 2020; doi: 10.1016/j.pediatrneurol.2020.08.021.
2020.09.04
血液・腫瘍
原著:Tamai M, Huang M, Kagami K, Abe M, Somazu S, Shinohara T, Harama D, Watanabe A, Akahane K, Goi K, Sugita K, Goto H, Minegishi M, Iwamoto S, Inukai T. Association of relapse-linked ARID5B single nucleotide polymorphisms with drug resistance in B-cell precursor acute lymphoblastic leukemia cell lines. Cancer Cell Int. 20(1):434, 2020
2020.09.30
神経・発達
症例報告:Sano F, Yagasaki H, Kojika S, Toda T, Kono Y, Suzuki-Inoue K, Sasaki T, Ogihara S, Matsuno T, Inoue O, Moriguchi T, Harii N, Goto J, Shimizu T, Inukai T. Severe Apparent Life-threatening Event (ALTE) in an Infant with SARS-CoV 2 Infection. Jpn J Infect Dis. 2020 ;doi: 10.7883/yoken.JJID.2020.572
原著:Shinohara T, Urayama KY, Watanabe A, Akahane K, Goi K, Huang M, Kagami K, Abe M, Sugita K, Okada Y, Goto H, Minegishi M, Iwamoto S, Inukai T. Inherited genetic variants associated with glucocorticoid sensitivity in leukaemia cells. J Cell Mol Med. 24(22):12920–32, 2020
原著:Ueno H, Yoshida K, Shiozawa Y, Nannya Y, Iijima-Yamashita Y, Kiyokawa N, Shiraishi Y, Chiba K, Tanaka H, Isobe T, Seki M, Kimura S, Makishima H, Nakagawa MM, Kakiuchi N, Kataoka K, Yoshizato T, Nishijima D, Deguchi T, Ohki K, Sato A, Takahashi H, Hashii Y, Tokimasa S, Hara J, Kosaka Y, Kato K, Inukai T, Takita J, Imamura T, Miyano S, Manabe A, Horibe K, Ogawa S, Sanada M. Landscape of driver mutations and their clinical impacts in pediatric B-cell precursor acute lymphoblastic leukemia. Blood Adv. 4(20):5165-5173, 2020
2020.11.12
血液・腫瘍
原著:Watanabe A, Miyake K, Nordlund J, Syvänen AC, van der Weyden L, Honda H, Yamasaki N, Nagamachi A, Inaba T, Ikawa T, Urayama KY, Kiyokawa N, Ohara A, Kimura S, Kubota Y, Takita J, Goto H, Sakaguchi K, Minegishi M, Iwamoto S, Shinohara T, Kagami K, Abe M, Akahane K, Goi K, Sugita K, Inukai T. Association of aberrant ASNS imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL. 136(20):2319-2333. Blood, 2020
2020.11.17
血液・腫瘍
原著:Hanihara M, Miyake K, Watanabe A, Yamada Y, Oishi N, Kawataki T, Inukai T, Kondo T, Kinouchi H. Assessment of MGMT methylation status using high-performance liquid chromatography in newly diagnosed glioblastoma. Clin Epigenetics. 12(1):174, 2020
2020.11.23
遺伝・内分泌・代謝
原著:Mochizuki M, Ito Y, Yokomichi H, Kikuchi T, Soneda S, Musha I, Anzou M, Kobayashi K, Matsuo K, Sugihara S, Sasaki N, Matsuura N, Amemiya S; Japanese Increasing secular trends in height and obesity in children with type 1 diabetes: JSGIT cohort. Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). PLoS One. 2020;15:e0242259.
2020.12.01
神経・発達
原著:Kanemoto D, Katsumata S, Aihara M, Ohki M. Compressed sensing framework applying independent component analysis after undersampling for reconstructing electroencephalogram signals. IEICE TRANS. FUNDAMENTALS 2020; 103, 1647-1654
2020.12.01
循環器
症例報告:Kromrey ML, Kise H, Hirose J, Yoshizawa M, Toda T, Kono Y, Sunaga Y, Johno H, Funayama S, Onishi H, Johnson K, Wieben O, Motosugi U. Right Pulmonary Vein Atresia in a Mildly Symptomatic Boy: Comprehensive Analysis of Flow Dynamics Using Non-contrast-enhanced 4D Flow MR Imaging. Magn Reson Med Sci. 2020 Dec 1;19(4):287-289.
原著:Ueda R, Kaga Y, Takeichi H, Iwasaki M, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Nakagawa E, Sugai K, Sasaki M, Inagaki M. Association of lack of functional connectivity between fronto–parietal pairs in children with frontal lobe epilepsy and poor executive function. Epilepsy Behav 2020; doi: 10.1016/j.yebeh.2020.107561.
2020.12.10
循環器
原著:Hirono K, Hata Y, Ozawa SW, Toda T, Momoi N, Fukuda Y, Inuzuka R, Nagamine H, Sakaguchi H, Kurosaki K, Okabe M, Takarada S, Miyao N, Nakaoka H, Ibuki K, Origasa H, Bowles NE, Nishida N, Ichida F; for LVNC study collaborators. A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction. Int J Cardiol. 2020 Dec 10:S0167-5273(20)34261-3.
2020.12.19
遺伝・内分泌・代謝
原著:Yokomichi H, Mochizuki M, Hirata M, Nagai A, Kojima R, Horiuchi S, Ooka T, Akiyama Y, Shinohara R, Miyake K; BioBank Japan Project, Yamagata Z. All-cause and cardiovascular disease mortality in underweight patients with diabetic nephropathy: BioBank Japan cohort. J Diabetes Investig. 2020 ; doi: 10.1111/jdi.13483.