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.
2019年
2019.01.08
循環器
Kise H, Hoshiai M, Kono Y, Yoshizawa M, Sunaga Y, Toda T, Asahina C, Umetani K, Inukai T. Multiple Splenic Artery Aneurysms in a Patient With Fontan Circulation. Circulation Reports 2019;1:466-467
原著：Watanabe A, Inukai T, Kagami K, Abe M, Takagi M, Fukushima T, Fukushima H, Nanmoku T, Terui K, Ito T, Toki T, Ito E, Fujimura J, Goto H, Endo M, Look T, Kamps M, Minegishi M, Takita J, Inaba T, Takahashi H, Ohara A, Harama D, Shinohara T, Somazu S, Oshiro H, Akahane K, Goi K, Sugita K. Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 8(11):5274-5288,2019
2019.06.08
血液・腫瘍
原著：Wang L, Tan TK, Durbin AD, Zimmerman MW, Abraham BJ, Tan SH, Ngoc PCT, Weichert-Leahey N, Akahane K, Lawton LN, Rokita JL, Maris JM, Young RA, Look AT, Sanda T. ASCL1 is a MYCN- and LMO1-dependent member of the adrenergic neuroblastoma core regulatory circuitry. Nat Commun. 10(1):5622, 2019
2019.06.08
血液・腫瘍
原著：Ishimaru S, Okamoto Y, Imai C, Sakaguchi H, Taki T, Hasegawa D, Cho Y, Kakuda H, Sano H, Manabe A, Imamura T, Kato M, Arakawa Y, Shimonodan H, Sato A, Suenobu S, Inukai T, Watanabe A, Kawano Y, Kikuta A, Horibe K, Ohara A, Koh K. Nationwide survey of pediatric hypodiploid acute lymphoblastic leukemia in Japan. Pediatr Int. 61(11):1103-1108, 2019.
2019.06.08
血液・腫瘍
原著：Saito S, Kikuchi J, Koyama D, Sato S, Koyama H, Osada N, Kuroda Y, Akahane K, Inukai T, Umehara T, Furukawa Y. Eradication of Central Nervous System Leukemia of T-Cell Origin with a Brain-Permeable LSD1 Inhibitor.Clin Cancer Res. 25(5):1601-1611, 2019
2019.06.08
血液・腫瘍
原著：Hoshino A, Yang X, Tanita K, Yoshida K, Ono T, Nishida N, Okuno Y, Kanzaki T, Goi K, Fujino H, Ohshima K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Morio T, Kanegane H. Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. J Allergy Clin Immunol. 43(1):421-424,2019
原著：Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019 ;56:413-418.
2019.06.09
遺伝・内分泌・代謝
症例報告：Yagasaki H, Ohyama T, Narusawa H, Nakane T. Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency. Pediatr Neonatol. 2019;60:475-476.
2019.06.09
その他
症例報告：Narusawa H, Koizumi K, Sano F, Yagasaki H, Nakane T. Penetrating craniocerebral injury by chopsticks in a Japanese boy confirmed by combined brain computed tomography and magnetic resonance imaging. Pediatr Neonatol. 2019 ;60:461-462.
2019.06.09
遺伝・内分泌・代謝
症例報告：Watanabe D, Yagasaki H, Kojika S, Ogiwara M, Kinouchi H, Nakane T, Inukai T. GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review. Endocr J. 2019 28;66:403-408.
原著：Akahane K, Murakami Y, Kagami K, Abe M, Harama D, Shinohara T, Watanabe A, Goi K, Nishi R, Yamauchi T, Kimura S, Takita J, Look AT, Minegishi M, Sugita K, Inukai T. High ENT1 and DCK gene expression levels are a potential biomarker to predict favorable response to nelarabine therapy in T-cell acute lymphoblastic leukemia. Hematol Oncol. 37(4):516-519,2019
総説：Shigetomi E, Saito K, Sano F, Koizumi S. Aberrant calcium signals in reactive astrocytes: a key mediator in neurological disease. Int J Mol Sci 2019; 20: 996
2019.12.28
神経・発達
原著論文：Kanemura H, Sano F, Aihara M. Usefulness of perampanel with concomitant levetiracetam for patients with drug-resistant epilepsy. Eur J Paediatr Neurol 2019; 23: 197-203
症例報告：Fujioka K, Kanemura H, Tando T, Aihara M. A Case of Chromosome 22q11.2 Deletion Syndrome with White Matter Abnormalities and Hypernasal Speech: Importance of Extracardiac Symptoms for Earlier Diagnosis. J Pediatr Neurol 2019; 17: 153-157
2018年
2018.01.08
腎臓
原著：Nakane T, Sawanobori E, Ohashi H, Sugita K. Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. Clin Dysmorphol. 2018 Jan;27(1):25-26.
2018.03.08
循環器
Koizumi K, Hoshiai M, Toda T, Nakane T, Sugita K. Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease. Pediatr Int. 2018 Mar;60(3):307-308.
2018.03.15
循環器
Koizumi K, Hoshiai M, Katsumata N, Toda T, Kise H, Hasebe Y, Kono Y, Sunaga Y, Yoshizawa M, Watanabe A, Kagami K, Abe M, Sugita K. Infliximab regulates monocytes and regulatory T cells in Kawasaki disease. Pediatr Int. 2018 Mar 15. doi: 10.1111/ped.13555.
原著：Musha I, Mochizuki M, Kikuchi T, Akatsuka J, Ohtake A, Kobayashi K, Kikuchi N, Kawamura T, Yokota I, Urakami T, Sugihara S, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Estimation of glycaemic control in the past month using ratio of glycated albumin to HbA1c. Diabet Med. 2018;35:855-861.
原著：Lin H, Miyauchi K, Harada T, Okita R, Takeshita E, Komaki H, Fujioka K, Yagasaki H, Goto YI, Yanaka K, Nakagawa S, Sakaguchi Y, Suzuki T. CO2-sensitive tRNA modification associated with human mitochondrial disease. Nat Commun. 2018 14;9:1875.
2018.06.09
遺伝・内分泌・代謝
症例報告：Kobayashi M, Yagasaki H, Kobayashi K, Ogiwara M, Kinouchi H, Sugita K. Xanthogranuloma of the sellar region accompanied by growth hormone deficiency: case report and literature review. J Pediatr Endocrinol Metab. 2018 ;31:1161-1164.
2018.06.09
遺伝・内分泌・代謝
症例報告：Saito T, Nakane T, Narusawa M, Yagasaki H, Nemoto A, Naito A, Sugita K. Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome. Am J Med Genet A. 176:1222-1224, 2018
2018.06.09
その他
症例報告：Nakamura C, Inaba Y, Tsukahara K, Mochizuki M, Sawanobori E, Nakazawa Y, Aoyama K. A pediatric case with peripheral facial nerve palsy caused by a granulomatous lesion associated with cat scratch disease. Brain Dev. 2018 ;40:159-162.
2018.07.08
腎臓
原著：Kanai H, Sawanobori E, Kobayashi A, Goto M, Higashida K, Sugita K. Urinary fibrin/fibrinogen degradation products measured using an anti-fibrinogen antibody predict orthostatic proteinuria. Pediatr Int. 2018 Jul;60(7):639-644.
2018.09.17
循環器
Kise H, Ohno S, Kono Y, Yoshizawa M, Harama D, Okafuji A, Toda T, Koizumi K, Hoshiai M, Sugita K, Horie M. Electrical storm in an infant with short-coupled variant of torsade de pointes. J Arrhythm. 2018 May 14;34(3):315-318
