Publications 2019

【2019年】

＜遺伝、染色体異常、先天奇形＞

Fujisawa T, Aizawa Y, Katsumata Y, Udo A, Ito S, Hatakeyama K, Hirose M, Miyama H, Nakajima K, Nishiyama T, Kimura T, Nitta M, Misumi K, Takatsuki S, Kosaki K, Fukuda K. A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia. Case Rep Genet 2019; 20199056596. <doi:10.1155/2019/9056596>

https://www.ncbi.nlm.nih.gov/pubmed/30729048

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq A N, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Hum Mol Genet 2019; 28(14): 2319-2329. <doi:10.1093/hmg/ddz066>

https://www.ncbi.nlm.nih.gov/pubmed/30985895

Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Schuurs-Hoeijmakers syndrome in two patients from Japan. Am J Med Genet A 2019; 179(3): 341-343. <doi:10.1002/ajmg.a.9>

https://www.ncbi.nlm.nih.gov/pubmed/30588754

Hozumi K, Fukuoka H, Odake Y, Takeuchi T, Uehara T, Sato T, Inoshita N, Yoshida K, Matsumoto R, Bando H, Hirota Y, Iguchi G, Taniguchi M, Otsuki N, Nishigori C, Kosaki K, Hasegawa T, Ogawa W, Takahashi Y. Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1. Endocr J 2019; 66(10): 853-857. <doi:10.1507/endocrj.EJ19-0035>

https://www.ncbi.nlm.nih.gov/pubmed/31189769

Ikeda J, Shiba N, Tsujimoto S I, Yoshida M, Nakabayashi K, Ogata-Kawata H, Okamura K, Takeuchi M, Osumi T, Tomizawa D, Hata K, Kiyokawa N, Ito S, Kato M. Whole transcriptome sequencing reveals a KMT2A-USP2 fusion in infant acute myeloid leukemia. Genes Chromosomes Cancer 2019; 58(9): 669-672. <doi:10.1002/gcc.22751>

https://www.ncbi.nlm.nih.gov/pubmed/30869817

Kamada M, Nakatsui M, Kojima R, Nohara S, Uchino E, Tanishima S, Sugiyama M, Kosaki K, Tokunaga K, Mizokami M, Okuno Y. MGeND: an integrated database for Japanese clinical and genomic information. Hum Genome Var 2019; 653. <doi:10.1038/s41439-019-0084-4>

https://www.ncbi.nlm.nih.gov/pubmed/31839973

Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata K I, Saitoh S. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. J Med Genet 2019; 56(6): 388-395. <doi:10.1136/jmedgenet-2018-105487>

https://www.ncbi.nlm.nih.gov/pubmed/30573562

Kato K, Miya F, Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate. J Hum Genet 2019; 64(7): 701-702. <doi:10.1038/s10038-019-0610-8>

https://www.ncbi.nlm.nih.gov/pubmed/31028281

Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, Fujita H, Ono N, Umegaki-Arao N, Kawai T, Nakabayashi K, Hata K, Yamada D, Matsubara Y, Kosaki K, Amagai M. Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. J Invest Dermatol 2019; 139(12): 2458-2466 e2459. <doi:10.1016/j.jid.2019.05.020>

https://www.ncbi.nlm.nih.gov/pubmed/31207227

Kuroda Y, Kimura Y, Uehara T, Kosaki K, Kurosawa K. Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability. Congenit Anom (Kyoto) 2019. <doi:10.1111/cga.12347>

https://www.ncbi.nlm.nih.gov/pubmed/31231897

Kusakawa M, Sato T, Hosoda A, Araki E, Matsuzaki Y, Yamashita Y, Ishihara J, Inagaki Y, Uchida N, Ishii T, Hasegawa T. A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. Hum Genome Var 2019; 655. <doi:10.1038/s41439-019-0087-1>

https://www.ncbi.nlm.nih.gov/pubmed/31885872

Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura K I, Kondoh T, Kosaki K. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. J Hum Genet 2019; 64(8): 789-794. <doi:10.1038/s10038-019-0619-z>

https://www.ncbi.nlm.nih.gov/pubmed/31138847

Nagaki S, Miwa K, Tsunematsu Y, Osawa M, Nagata S. Turner syndrome with idiopathic thrombocytopenic purpura in childhood. Pediatr Int 2019; 61(10): 1057-1058. <doi:10.1111/ped.13944>

https://www.ncbi.nlm.nih.gov/pubmed/31663242

Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations. Cytogenet Genome Res 2019; 158(2): 56-62. <doi:10.1159/000500468>

https://www.ncbi.nlm.nih.gov/pubmed/31158835

Osumi T, Watanabe A, Okamura K, Nakabayashi K, Yoshida M, Tsujimoto S I, Uchiyama M, Takahashi H, Tomizawa D, Hata K, Kiyokawa N, Kato M. Acute promyelocytic leukemia with a cryptic insertion of RARA into TBL1XR1. Genes Chromosomes Cancer 2019; 58(11): 820-823. <doi:10.1002/gcc.22791>

https://www.ncbi.nlm.nih.gov/pubmed/31350930

Saeki S, Enokizono T, Imagawa K, Fukushima H, Kajikawa D, Sakai A, Tanaka M, Ohto T, Suzuki H, Uehara T, Takenouchi T, Kenjiro K, Takada H. A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clin Case Rep 2019; 7(11): 2059-2063. <doi:10.1002/ccr3.2377>

https://www.ncbi.nlm.nih.gov/pubmed/31788251

Sakaguchi A, Yamashita Y, Ishii T, Uehara T, Kosaki K, Takahashi T, Takenouchi T. Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder. Eur J Med Genet 2019; 62(6): 103537. <doi:10.1016/j.ejmg.2018.09.004>

https://www.ncbi.nlm.nih.gov/pubmed/30213762

Sekimizu M, Yoshida A, Mitani S, Asano N, Hirata M, Kubo T, Yamazaki F, Sakamoto H, Kato M, Makise N, Mori T, Yamazaki N, Sekine S, Oda I, Watanabe S I, Hiraga H, Yonemoto T, Kawamoto T, Naka N, Funauchi Y, Nishida Y, Honoki K, Kawano H, Tsuchiya H, Kunisada T, Matsuda K, Inagaki K, Kawai A, Ichikawa H. Frequent mutations of genes encoding vacuolar H(+) -ATPase components in granular cell tumors. Genes Chromosomes Cancer 2019; 58(6): 373-380. <doi:10.1002/gcc.22727>

https://www.ncbi.nlm.nih.gov/pubmed/30597645

Shibata A, Uchida K, Kodo K, Miyauchi T, Mikoshiba K, Takahashi T, Yamagishi H. Type 2 inositol 1,4,5-trisphosphate receptor inhibits the progression of pulmonary arterial hypertension via calcium signaling and apoptosis. Heart Vessels 2019; 34(4): 724-734. <doi:10.1007/s00380-018-1304-4>

https://www.ncbi.nlm.nih.gov/pubmed/30460575

Suzuki H, Takenouchi T, Uehara T, Takasago S, Ihara S, Yoshihashi H, Kosaki K. Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. Am J Med Genet A 2019; 179(8): 1628-1630. <doi:10.1002/ajmg.a.61261>

https://www.ncbi.nlm.nih.gov/pubmed/31173466

Suzuki H, Watanabe T, Uehara T, Kosaki K. Medical genetics and genomic medicine in Japan. Am J Med Genet C Semin Med Genet 2019; 181(2): 166-169. <doi:10.1002/ajmg.c.31702>

https://www.ncbi.nlm.nih.gov/pubmed/31111991

Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T. De novo NSF mutations cause early infantile epileptic encephalopathy. Ann Clin Transl Neurol 2019; 6(11): 2334-2339. <doi:10.1002/acn3.50917>

https://www.ncbi.nlm.nih.gov/pubmed/31675180

Takeda T, Banno K, Kobayashi Y, Adachi M, Yanokura M, Tominaga E, Kosaki K, Aoki D. Mutations of RAS genes in endometrial polyps. Oncol Rep 2019; 42(6): 2303-2308. <doi:10.3892/or.2019.7353>

https://www.ncbi.nlm.nih.gov/pubmed/31638232

Takenouchi T, Okuno H, Kosaki K. Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. Am J Med Genet C Semin Med Genet 2019; 181(4): 650-657. <doi:10.1002/ajmg.c.31755>

https://www.ncbi.nlm.nih.gov/pubmed/31710779

Takenouchi T, Shimada H, Uehara T, Kanai Y, Takahashi T, Kosaki K. A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin. Eur J Med Genet 2019; 62(2): 93-95. <doi:10.1016/j.ejmg.2018.06.003>

https://www.ncbi.nlm.nih.gov/pubmed/29879466

Takenouchi T, Wei F Y, Suzuki H, Uehara T, Takahashi T, Okazaki Y, Kosaki K, Tomizawa K. Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i(6) A37 and ms(2) i(6) A37 modifications in tRNAs from blood and urine samples. Am J Med Genet A 2019; 179(8): 1609-1614. <doi:10.1002/ajmg.a.61211>

https://www.ncbi.nlm.nih.gov/pubmed/31140736

Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O’connor B C, Yoshina S, Mitani S, Kosaki K, Takenouchi T. Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model. Sci Rep 2019; 9(1): 4418. <doi:10.1038/s41598-019-40988-7>

https://www.ncbi.nlm.nih.gov/pubmed/30872706

Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome. Am J Med Genet A 2019; 179(4): 659-662. <doi:10.1002/ajmg.a.61068>

https://www.ncbi.nlm.nih.gov/pubmed/30768759

Uehara T, Tsuchihashi T, Yamada M, Suzuki H, Takenouchi T, Kosaki K. CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. Am J Med Genet A 2019; 179(12): 2506-2509. <doi:10.1002/ajmg.a.61356>

https://www.ncbi.nlm.nih.gov/pubmed/31512373

Ueno Y, Enokizono T, Fukushima H, Ohto T, Imagawa K, Tanaka M, Sakai A, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Hum Genome Var 2019; 625. <doi:10.1038/s41439-019-0056-8>

https://www.ncbi.nlm.nih.gov/pubmed/31149344

Yamada M, Suzuki H, Shiraishi Y, Kosaki K. Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders. Mol Genet Metab Rep 2019; 21100531. <doi:10.1016/j.ymgmr.2019.100531>

https://www.ncbi.nlm.nih.gov/pubmed/31687339

Yamada M, Uehara T, Suzuki H, Takenouchi T, Fukushima H, Morisada N, Tominaga K, Onoda M, Kosaki K. IFT172 as the 19th gene causative of oral-facial-digital syndrome. Am J Med Genet A 2019; 179(12): 2510-2513. <doi:10.1002/ajmg.a.61373>

https://www.ncbi.nlm.nih.gov/pubmed/31587445

Yamada M, Uehara T, Suzuki H, Takenouchi T, Yoshihashi H, Suzumura H, Mizuno S, Kosaki K. SATB2-associated syndrome in patients from Japan: Linguistic profiles. Am J Med Genet A 2019; 179(6): 896-899. <doi:10.1002/ajmg.a.61114>

https://www.ncbi.nlm.nih.gov/pubmed/30848049

Yamoto K, Saitsu H, Nishimura G, Kosaki R, Takayama S, Haga N, Tonoki H, Okumura A, Horii E, Okamoto N, Suzumura H, Ikegawa S, Kato F, Fujisawa Y, Nagata E, Takada S, Fukami M, Ogata T. Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). Eur J Hum Genet 2019; 27(12): 1845-1857. <doi:10.1038/s41431-019-0473-7>

https://www.ncbi.nlm.nih.gov/pubmed/31332306

Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike I N, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F, Tohoku Medical Megabank Project Study G, Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. J Biochem 2019; 165(2): 139-158. <doi:10.1093/jb/mvy096>

https://www.ncbi.nlm.nih.gov/pubmed/30452759

＜栄養障害、代謝性疾患、消化器疾患＞

Inokuchi M, Matsuo N, Takayama J I, Hasegawa T. National anthropometric reference values and growth curves for Japanese children: history and critical review. Ann Hum Biol 2019; 46(4): 287-292. <doi:10.1080/03014460.2019.1638453>

https://www.ncbi.nlm.nih.gov/pubmed/31257942

Kawai R, Uda K, Horikoshi Y, Hataya H. Caterpillar Sign in an Infant with Hypertrophic Pyloric Stenosis. J Pediatr 2019; 208292. <doi:10.1016/j.jpeds.2018.12.058>

https://www.ncbi.nlm.nih.gov/pubmed/30723016

Okubo Y, Miyairi I, Michihata N, Morisaki N, Kinoshita N, Urayama K Y, Yasunaga H. Recent Prescription Patterns for Children With Acute Infectious Diarrhea. J Pediatr Gastroenterol Nutr 2019; 68(1): 13-16. <doi:10.1097/MPG.0000000000002115>

https://www.ncbi.nlm.nih.gov/pubmed/30074577

＜血液疾患、腫瘍＞

Attarbaschi A, Abla O, Ronceray L, Bansil S, Bomken S, Burkhardt B, Ceppi F, Chiang A K S, Dave H, Fedorova A, Henry M, Jazbec J, Kabickova E, Kotecha R S, Lazic J, Loeffen J, Miakova N, Osumi T, Pillon M, Pourtsidis A, Rigaud C, Tamamyan G, Tandon S, Uyttebroeck A, Verdu-Amoros J, Woessmann W, Wrobel G, Giulino-Roth L. Primary central nervous system lymphoma: initial features, outcome, and late effects in 75 children and adolescents. Blood Adv 2019; 3(24): 4291-4297. <doi:10.1182/bloodadvances.2019001062>

https://www.ncbi.nlm.nih.gov/pubmed/31869415

Fukano H, Yoshida M, Shouji M, Hatta S, Maruyama D, Izutsu K, Shiotsuka M, Ogura Y, Hayashi T, Hasegawa N, Iwata S, Hoshino Y. Draft Genome Sequence of Mycolicibacterium sp. Strain NCC-Tsukiji, Isolated from Blood Culture of a Patient with Malignant Lymphoma. Microbiol Resour Announc 2019; 8(14). <doi:10.1128/MRA.01575-18>

https://www.ncbi.nlm.nih.gov/pubmed/30948470

Fukutake K, Taki M, Matsushita T, Nogami K, Shima M, Yoshioka A, Takamatsu J, Uchikawa H, Takagi H, Arai M, Engl W, Shirahata A. Inhibitor development, safety and efficacy of Advate((R)) among previously treated patients with hemophilia A in a postmarketing surveillance in Japan. Int J Hematol 2019; 109(3): 336-345. <doi:10.1007/s12185-018-02574-x>

https://www.ncbi.nlm.nih.gov/pubmed/30604312

Fukutake K, Taki M, Matsushita T, Sakai M, Takata A, Yamaguchi H, Karumori T. Postmarketing safety and effectiveness of recombinant factor IX (nonacog alfa) in Japanese patients with haemophilia B. Haemophilia 2019; 25(4): e247-e256. <doi:10.1111/hae.13783>

https://www.ncbi.nlm.nih.gov/pubmed/31168882

Hijiya N, Maschan A, Rizzari C, Shimada H, Dufour C, Goto H, Kang H J, Guinipero T, Karakas Z, Bautista F, Ducassou S, Yoo K H, Zwaan C M, Millot F, Aimone P, Allepuz A, Quenet S, Hourcade-Potelleret F, Hertle S, Sosothikul D. Phase 2 study of nilotinib in pediatric patients with Philadelphia chromosome-positive chronic myeloid leukemia. Blood 2019; 134(23): 2036-2045. <doi:10.1182/blood.2019000069>

https://www.ncbi.nlm.nih.gov/pubmed/31511239

Hosaka S, Kobayashi C, Saito H, Imai-Saito A, Suzuki R, Iwabuchi A, Kato Y, Jimbo T, Watanabe N, Onodera M, Imadome K I, Masumoto K, Nanmoku T, Fukushima T, Kosaki K, Sumazaki R, Takada H. Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion. Pediatr Transplant 2019; 23(4): e13424. <doi:10.1111/petr.13424>

https://www.ncbi.nlm.nih.gov/pubmed/31033123

https://www.ncbi.nlm.nih.gov/pubmed/30869817

Ito J, Shima H, Inoue K, Yamazaki F, Shimada H. Haploidentical stem cell transplantation with posttransplant cyclophosphamide for refractory systemic juvenile xanthogranuloma. Pediatr Blood Cancer 2019; 66(10): e27926. <doi:10.1002/pbc.27926>

https://www.ncbi.nlm.nih.gov/pubmed/31309704

Kato M, Kurata M, Kanda J, Kato K, Tomizawa D, Kudo K, Yoshida N, Watanabe K, Shimada H, Inagaki J, Koh K, Goto H, Kato K, Cho Y, Yuza Y, Ogawa A, Okada K, Inoue M, Hashii Y, Teshima T, Murata M, Atsuta Y. Impact of graft-versus-host disease on relapse and survival after allogeneic stem cell transplantation for pediatric leukemia. Bone Marrow Transplant 2019; 54(1): 68-75. <doi:10.1038/s41409-018-0221-6>

https://www.ncbi.nlm.nih.gov/pubmed/29795428

Keino D, Mori T, Morimoto M, Kondo K, Mori T, Kinoshita A. Salvage therapy with azacitidine for pediatric acute myeloid leukemia with t(16;21)(p11;q22)/FUS-ERG and early relapse after allogeneic blood stem cell transplantation: A case report. Clin Case Rep 2019; 7(11): 2149-2152. <doi:10.1002/ccr3.2461>

https://www.ncbi.nlm.nih.gov/pubmed/31788268

Kobayashi K, Kurihara Y, Yamagami J, Ito J, Shima H, Shimada H, Ichimura C, Ishiko A, Amagai M, Ouchi T. Generalized eruptive histiocytoma developing into xanthoma disseminatum with central diabetes insipidus. J Dermatol 2019; 46(8): e281-e283. <doi:10.1111/1346-8138.14845>

https://www.ncbi.nlm.nih.gov/pubmed/30859591

Kubota-Tanaka M, Osumi T, Miura S, Tsujimoto H, Imamura T, Nishimura A, Oki K, Nakamura K, Miyamoto S, Inoue K, Inoue M, Kamiya T, Yanagimachi M, Okano T, Mitsuiki N, Isoda T, Imai K, Kanegane H, Morio T, Kounami S, Endo M, Kato M, Takagi M. B-lymphoblastic lymphoma with TCF3-PBX1 fusion gene. Haematologica 2019; 104(1): e35-e37. <doi:10.3324/haematol.2018.199885>

https://www.ncbi.nlm.nih.gov/pubmed/30262566

Nagaki S, Miwa K, Tsunematsu Y, Osawa M, Nagata S. Turner syndrome with idiopathic thrombocytopenic purpura in childhood. Pediatr Int 2019; 61(10): 1057-1058. <doi:10.1111/ped.13944>

https://www.ncbi.nlm.nih.gov/pubmed/31663242

Nakano Y, Tsunematsu Y, Yamazaki F, Manabe A, Nakagawara A, Hiyama E, Kumamoto T. Pediatric patients with cancer predisposition in Japan: Results of a questionnaire survey. Pediatr Blood Cancer 2019; 66(10): e27937. <doi:10.1002/pbc.27937>

https://www.ncbi.nlm.nih.gov/pubmed/31322809

Ohki K, Kiyokawa N, Saito Y, Hirabayashi S, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fukushima K, Hasegawa D, Fukushima H, Imai M, Kajiwara R, Koike T, Komori I, Matsui A, Mori M, Moriwaki K, Noguchi Y, Park M J, Ueda T, Yamamoto S, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Takahashi H, Fukushima T, Hayashi Y, Koh K, Manabe A, Ohara A, Tokyo Children’s Cancer Study G. Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion. Haematologica 2019; 104(1): 128-137. <doi:10.3324/haematol.2017.186320>

https://www.ncbi.nlm.nih.gov/pubmed/30171027

Osada A, Araki E, Yamashita Y, Ishii T. Combination therapy of propranolol, levothyroxine, and liothyronine was effective in a case of severe consumptive hypothyroidism associated with infantile hepatic hemangioma. Clin Pediatr Endocrinol 2019; 28(1): 9-14. <doi:10.1297/cpe.28.9>

https://www.ncbi.nlm.nih.gov/pubmed/30745728

Osumi T, Tomizawa D, Kawai T, Sako M, Inoue E, Takimoto T, Tamura E, Uchiyama T, Imadome K I, Taniguchi M, Shirai R, Yoshida M, Ando R, Tsumura Y, Fuji H, Matsumoto K, Shioda Y, Kiyotani C, Terashima K, Onodera M, Matsumoto K, Kato M. A prospective study of allogeneic transplantation from unrelated donors for chronic granulomatous disease with target busulfan-based reduced-intensity conditioning. Bone Marrow Transplant 2019; 54(1): 168-172. <doi:10.1038/s41409-018-0271-9>

https://www.ncbi.nlm.nih.gov/pubmed/29959437

https://www.ncbi.nlm.nih.gov/pubmed/31350930

https://www.ncbi.nlm.nih.gov/pubmed/30597645

Shima H, Ito J, Isshiki K, Sekinaka Y, Yamazaki F, Shimada H. Testicular involvement without testicular enlargement in a young male with atypical chronic myeloid leukemia. Pediatr Blood Cancer 2019; 66(10): e27911. <doi:10.1002/pbc.27911>

https://www.ncbi.nlm.nih.gov/pubmed/31276287

Shima M, Nogami K, Nagami S, Yoshida S, Yoneyama K, Ishiguro A, Suzuki T, Taki M. A multicentre, open-label study of emicizumab given every 2 or 4 weeks in children with severe haemophilia A without inhibitors. Haemophilia 2019; 25(6): 979-987. <doi:10.1111/hae.13848>

https://www.ncbi.nlm.nih.gov/pubmed/31515851

Shoji K, Miyairi I, Inoue E, Fukuda A, Sakamoto S, Kasahara M. Graft-to-Recipient Weight Ratio Associated With Tacrolimus Metabolism Following Pediatric Living Donor Liver Transplantations. J Pediatr Pharmacol Ther 2019; 24(2): 138-147. <doi:10.5863/1551-6776-24.2.138>

https://www.ncbi.nlm.nih.gov/pubmed/31019407

Takahashi N, Yamada Y, Hoshino K, Kawaida M, Mori T, Abe K, Fujimura T, Matsubara K, Hibi T, Shinoda M, Obara H, Isshiki K, Shima H, Shimada H, Kameyama K, Fuchimoto Y, Kitagawa Y, Kuroda T. Living Donor Liver Re-Transplantation for Recurrent Hepatoblastoma in the Liver Graft following Complete Eradication of Peritoneal Metastases under Indocyanine Green Fluorescence Imaging. Cancers (Basel) 2019; 11(5). <doi:10.3390/cancers11050730>

https://www.ncbi.nlm.nih.gov/pubmed/31130716

https://www.ncbi.nlm.nih.gov/pubmed/29879466

Taki M, Fukutake K, Matsushita T, Nogami K, Shima M, Yoshioka A, Takamatsu J, Arai M, Takagi H, Uchikawa H, Engl W, Shirahata A. Correction to: Inhibitor development, safety, and efficacy of Advate(R) in previously untreated patients with hemophilia A in a postmarketing surveillance in Japan. Int J Hematol 2019; 109(2): 241. <doi:10.1007/s12185-018-02564-z>

https://www.ncbi.nlm.nih.gov/pubmed/30560315

Taki M, Fukutake K, Matsushita T, Nogami K, Shima M, Yoshioka A, Takamatsu J, Arai M, Takagi H, Uchikawa H, Engl W, Shirahata A. Inhibitor development, safety, and efficacy of Advate((R)) in previously untreated patients with hemophilia A in a postmarketing surveillance in Japan. Int J Hematol 2019; 109(1): 70-78. <doi:10.1007/s12185-018-2499-y>

https://www.ncbi.nlm.nih.gov/pubmed/30043332

Uda K, Okubo Y, Matsushima T, Sadahira C, Kono T, Hataya H. Multifocal Infantile Hemangioma. J Pediatr 2019; 210238-238 e231. <doi:10.1016/j.jpeds.2019.02.048>

https://www.ncbi.nlm.nih.gov/pubmed/30955789

Watanabe K, Arakawa Y, Yanagi M, Isobe K, Mori M, Koh K. Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban: A case report. Pediatr Blood Cancer 2019; 66(6): e27686. <doi:10.1002/pbc.27686>

https://www.ncbi.nlm.nih.gov/pubmed/30835920

Yamazaki F, Nakatani F, Asano N, Wakai S, Sekimizu M, Mitani S, Kubo T, Kawai A, Ichikawa H, Yoshida A. Novel NTRK3 Fusions in Fibrosarcomas of Adults. Am J Surg Pathol 2019; 43(4): 523-530. <doi:10.1097/PAS.0000000000001194>

https://www.ncbi.nlm.nih.gov/pubmed/30520818

Yoshida M, Nakabayashi K, Ogata-Kawata H, Osumi T, Tsujimoto S I, Shirai R, Yoshida K, Okamura K, Matsumoto K, Kiyokawa N, Tomizawa D, Hata K, Kato M. A novel KMT2A-ACTN2 fusion in infant B-cell acute lymphoblastic leukemia. Pediatr Blood Cancer 2019; 66(8): e27821. <doi:10.1002/pbc.27821>

https://www.ncbi.nlm.nih.gov/pubmed/31115144

＜呼吸器疾患、アレルギー＞

Boonpiyathad T, Sokolowska M, Morita H, Ruckert B, Kast J I, Wawrzyniak M, Sangasapaviliya A, Pradubpongsa P, Fuengthong R, Thantiworasit P, Sirivichayakul S, Kwok W W, Ruxrungtham K, Akdis M, Akdis C A. Der p 1-specific regulatory T-cell response during house dust mite allergen immunotherapy. Allergy 2019; 74(5): 976-985. <doi:10.1111/all.13684>

https://www.ncbi.nlm.nih.gov/pubmed/30485456

Iio K, Soneda K, Shimotakahara A, Hataya H, Kono T. Effective method of evaluating infantile chylothorax. Pediatr Int 2019; 61(2): 203-205. <doi:10.1111/ped.13762>

https://www.ncbi.nlm.nih.gov/pubmed/30767369

Kimizuka Y, Hoshino Y, Nishimura T, Asami T, Sakakibara Y, Morimoto K, Maeda S, Nakata N, Abe T, Uno S, Namkoong H, Fujiwara H, Funatsu Y, Yagi K, Fujie T, Ishii M, Inase N, Iwata S, Kurashima A, Betsuyaku T, Hasegawa N, Non-Tuberculous Mycobacteriosis-Japan Research C. Retrospective evaluation of natural course in mild cases of Mycobacterium avium complex pulmonary disease. PLoS One 2019; 14(4): e0216034. <doi:10.1371/journal.pone.0216034>

https://www.ncbi.nlm.nih.gov/pubmed/31022253

Kobayashi H, Miyakoshi K, Koinuma G. Communicating bronchopulmonary foregut malformation: Volume change of the affected lung after birth. Pediatr Pulmonol 2019; 54(6): 669-671. <doi:10.1002/ppul.24296>

https://www.ncbi.nlm.nih.gov/pubmed/30938938

Kobayashi H, Shinjoh M, Sudo K, Kato S, Morozumi M, Koinuma G, Takahashi T, Takano Y, Tamura Y, Hasegawa N. Nosocomial infection by human bocavirus and human rhinovirus among paediatric patients with respiratory risks. J Hosp Infect 2019; 103(3): 341-348. <doi:10.1016/j.jhin.2019.05.002>

https://www.ncbi.nlm.nih.gov/pubmed/31078633

Koinuma G, Shinjoh M, Kageyama T, Nakazawa M, Kamimaki I. Round pneumonia due to Chlamydia pneumoniae in a child. Radiol Case Rep 2019; 14(4): 436-438. <doi:10.1016/j.radcr.2019.01.010>

https://www.ncbi.nlm.nih.gov/pubmed/30701012

Li S, Morita H, Sokolowska M, Tan G, Boonpiyathad T, Opitz L, Orimo K, Archer S K, Jansen K, Tang M L K, Purcell D, Plebanski M, Akdis C A. Gene expression signatures of circulating human type 1, 2, and 3 innate lymphoid cells. J Allergy Clin Immunol 2019; 143(6): 2321-2325. <doi:10.1016/j.jaci.2019.01.047>

https://www.ncbi.nlm.nih.gov/pubmed/30825467

Morita H, Kubo T, Ruckert B, Ravindran A, Soyka M B, Rinaldi A O, Sugita K, Wawrzyniak M, Wawrzyniak P, Motomura K, Tamari M, Orimo K, Okada N, Arae K, Saito K, Altunbulakli C, Castro-Giner F, Tan G, Neumann A, Sudo K, O’mahony L, Honda K, Nakae S, Saito H, Mjosberg J, Nilsson G, Matsumoto K, Akdis M, Akdis C A. Induction of human regulatory innate lymphoid cells from group 2 innate lymphoid cells by retinoic acid. J Allergy Clin Immunol 2019; 143(6): 2190-2201 e2199. <doi:10.1016/j.jaci.2018.12.1018>

https://www.ncbi.nlm.nih.gov/pubmed/30682454

Morita H, Tamari M, Fujiwara M, Motomura K, Koezuka Y, Ichien G, Matsumoto K, Ishizaka K, Saito H. IgE-class-specific immunosuppression in offspring by administration of anti-IgE to pregnant mice. J Allergy Clin Immunol 2019; 143(3): 1261-1264 e1266. <doi:10.1016/j.jaci.2018.11.008>

https://www.ncbi.nlm.nih.gov/pubmed/30471303

Rinaldi A O, Morita H, Wawrzyniak P, Dreher A, Grant S, Svedenhag P, Akdis C A. Direct assessment of skin epithelial barrier by electrical impedance spectroscopy. Allergy 2019; 74(10): 1934-1944. <doi:10.1111/all.13824>

https://www.ncbi.nlm.nih.gov/pubmed/30989659

Sugita K, Altunbulakli C, Morita H, Sugita A, Kubo T, Kimura R, Goto H, Yamamoto O, Ruckert B, Akdis M, Akdis C A. Human type 2 innate lymphoid cells disrupt skin keratinocyte tight junction barrier by IL-13. Allergy 2019; 74(12): 2534-2537. <doi:10.1111/all.13935>

https://www.ncbi.nlm.nih.gov/pubmed/31166013

Yamaji Y, Sawada A, Yasui Y, Ito T, Nakayama T. Simultaneous Administration of Recombinant Measles Viruses Expressing Respiratory Syncytial Virus Fusion (F) and Nucleo (N) Proteins Induced Humoral and Cellular Immune Responses in Cotton Rats. Vaccines (Basel) 2019; 7(1). <doi:10.3390/vaccines7010027>

https://www.ncbi.nlm.nih.gov/pubmed/30836661

https://www.ncbi.nlm.nih.gov/pubmed/30520818

＜循環器疾患＞

Atsumi Y, Saito Y, Hataya H, Fukuzawa R, Yuza Y. Ewing’s Sarcoma with Extension into Superior Vena Cava and Right Atrium. Indian J Surg Oncol 2019; 10(1): 98-100. <doi:10.1007/s13193-018-0849-0>

https://www.ncbi.nlm.nih.gov/pubmed/30948882

https://www.ncbi.nlm.nih.gov/pubmed/30460575

Yoshida Y, Maeda J, Fukushima H, Tokita N, Yamagishi H, Tokumura M. Chronotropic incompetence to exercise in anorexia nervosa patients during the body-weight recovery phase as an index of insufficient treatment. Heart Vessels 2019; 34(4): 711-715. <doi:10.1007/s00380-018-1282-6>

https://www.ncbi.nlm.nih.gov/pubmed/30341630

＜新生児疾患＞

Tsuda K, Iwata S, Mukai T, Shibasaki J, Takeuchi A, Ioroi T, Sano H, Yutaka N, Takahashi A, Takenouchi T, Osaga S, Tokuhisa T, Takashima S, Sobajima H, Tamura M, Hosono S, Nabetani M, Iwata O, Baby Cooling Registry of Japan Collaboration T. Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants. Ther Hypothermia Temp Manag 2019; 9(1): 76-85. <doi:10.1089/ther.2018.0019>

https://www.ncbi.nlm.nih.gov/pubmed/30230963

Uchida-Ota M, Arimitsu T, Tsuzuki D, Dan I, Ikeda K, Takahashi T, Minagawa Y. Maternal speech shapes the cerebral frontotemporal network in neonates: A hemodynamic functional connectivity study. Dev Cogn Neurosci 2019; 39100701. <doi:10.1016/j.dcn.2019.100701>

https://www.ncbi.nlm.nih.gov/pubmed/31513977

＜神経・筋疾患、心身症＞

Hongo Y, Kaneko J, Suga H, Ishima D, Kitamura E, Akutsu T, Onozawa Y, Kanazawa N, Goto T, Nishiyama K, Iizuka T. A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features. J Neurol 2019; 266(6): 1459-1472. <doi:10.1007/s00415-019-09283-3>

https://www.ncbi.nlm.nih.gov/pubmed/30888501

Ichikawa K, Tsuji M, Tsuyusaki Y, Tomiyasu M, Aida N, Goto T. Serial Magnetic Resonance Imaging and (1)H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. JIMD Rep 2019; 437-12. <doi:10.1007/8904_2018_95>

https://www.ncbi.nlm.nih.gov/pubmed/29478219

Ichikawa K, Tsuyusaki Y, Shimbo H, Goto T. Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene. Pediatr Int 2019; 61(10): 1055-1056. <doi:10.1111/ped.13991>

https://www.ncbi.nlm.nih.gov/pubmed/31625254

Ishitsuka Y, Inoue S, Furuta J, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Fukushima H, Suzuki H, Nishino I, Kosaki K, Fujimoto M. Sweat retention anhidrosis associated with tubular aggregate myopathy. Br J Dermatol 2019; 181(5): 1104-1106. <doi:10.1111/bjd.18175>

https://www.ncbi.nlm.nih.gov/pubmed/31145807

Koreki A, Maeda T, Okimura T, Terasawa Y, Kikuchi T, Umeda S, Nishikata S, Yagihashi T, Kasahara M, Nagai C, Moriyama Y, Den R, Watanabe T, Kikumoto H, Kato M, Mimura M. Dysconnectivity of the Agency Network in Schizophrenia: A Functional Magnetic Resonance Imaging Study. Front Psychiatry 2019; 10171. <doi:10.3389/fpsyt.2019.00171>

https://www.ncbi.nlm.nih.gov/pubmed/31001152

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Discordant phenotype caused by CASK mutation in siblings with NF1. Hum Genome Var 2019; 620. <doi:10.1038/s41439-019-0051-0>

https://www.ncbi.nlm.nih.gov/pubmed/31044082

Ogawa E, Shoji K, Kamidani S, Miyairi I. Febrile seizures with leukocytosis as a predictor for occult bacteremia. Pediatr Int 2019; 61(6): 578-582. <doi:10.1111/ped.13862>

https://www.ncbi.nlm.nih.gov/pubmed/30980459

Okada R, Sakaguchi Y, Matsushige T, Kamimaki I, Takenouchi T, Takahashi T. Acute childhood encephalopathy with prolonged fever, pleocytosis and elevated inflammatory cytokines in the cerebrospinal fluid and transient splenial lesion. Journal of the International Child Neurology Association 2019. <doi:10.17724/jicna.2019.166>

https://dx.doi.org/10.17724/jicna.2019.166

Sado T, Nakata S, Tsuno T, Sato M, Misawa Y, Yamauchi S, Inaba Y, Kobayashi D, Wada K. Concentrations of various forms of vitamin B6 in ginkgo seed poisoning. Brain Dev 2019; 41(3): 292-295. <doi:10.1016/j.braindev.2018.10.007>

https://www.ncbi.nlm.nih.gov/pubmed/30366747

https://www.ncbi.nlm.nih.gov/pubmed/31788251

https://www.ncbi.nlm.nih.gov/pubmed/30213762

https://www.ncbi.nlm.nih.gov/pubmed/31675180

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi J I, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nat Commun 2019; 10(1): 2506. <doi:10.1038/s41467-019-10482-9>

https://www.ncbi.nlm.nih.gov/pubmed/31175295

https://www.ncbi.nlm.nih.gov/pubmed/31710779

https://www.ncbi.nlm.nih.gov/pubmed/29879466

https://www.ncbi.nlm.nih.gov/pubmed/31140736

https://www.ncbi.nlm.nih.gov/pubmed/30230963

Tulyeu J, Tamaura M, Jimbo E, Shimbo H, Takano K, Iai M, Yamashita S, Goto T, Aida N, Tokuhiro E, Yamagata T, Osaka H. Aggregate formation analysis of GFAP(R416W) found in one case of Alexander disease. Brain Dev 2019; 41(2): 195-200. <doi:10.1016/j.braindev.2018.08.009>

https://www.ncbi.nlm.nih.gov/pubmed/30213442

https://www.ncbi.nlm.nih.gov/pubmed/30872706

https://www.ncbi.nlm.nih.gov/pubmed/31512373

https://www.ncbi.nlm.nih.gov/pubmed/31149344

https://www.ncbi.nlm.nih.gov/pubmed/30848049

https://www.ncbi.nlm.nih.gov/pubmed/30341630

Yotsukura E, Torii H, Inokuchi M, Tokumura M, Uchino M, Nakamura K, Hyodo M, Mori K, Jiang X, Ikeda S I, Kondo S, Negishi K, Kurihara T, Tsubota K. Current Prevalence of Myopia and Association of Myopia With Environmental Factors Among Schoolchildren in Japan. JAMA Ophthalmol 2019; 137(11): 1233-1239. <doi:10.1001/jamaophthalmol.2019.3103>

https://www.ncbi.nlm.nih.gov/pubmed/31415060

＜腎・泌尿器疾患、生殖器疾患＞

Atsumi Y, Saito Y, Hataya H, Fukuzawa R, Yuza Y. Ewing’s Sarcoma with Extension into Superior Vena Cava and Right Atrium. Indian J Surg Oncol 2019; 10(1): 98-100. <doi:10.1007/s13193-018-0849-0>

https://www.ncbi.nlm.nih.gov/pubmed/30948882

Awazu M, Abe T, Hashiguchi A, Hida M. Maternal undernutrition aggravates renal tubular necrosis and interstitial fibrosis after unilateral ureteral obstruction in male rat offspring. PLoS One 2019; 14(9): e0221686. <doi:10.1371/journal.pone.0221686>

https://www.ncbi.nlm.nih.gov/pubmed/31479481

Iio K, Ariyama Y, Tomita H, Sakakibara H, Hataya H. Secondary haemophagocytic lymphohistiocytosis associated with metronidazole. Postgrad Med J 2019; 95(1125): 390. <doi:10.1136/postgradmedj-2019-136512>

https://www.ncbi.nlm.nih.gov/pubmed/31123179

Iio K, Ogawa Y, Ihara T, Horikoshi Y, Hataya H. Nuchal Rigidity in Infantile Bacterial Meningitis. J Pediatr 2019; 207255. <doi:10.1016/j.jpeds.2018.10.008>

https://www.ncbi.nlm.nih.gov/pubmed/30384970

Iio K, Soneda K, Shimotakahara A, Hataya H, Kono T. Effective method of evaluating infantile chylothorax. Pediatr Int 2019; 61(2): 203-205. <doi:10.1111/ped.13762> https://www.ncbi.nlm.nih.gov/pubmed/30767369

Kawai R, Uda K, Horikoshi Y, Hataya H. Caterpillar Sign in an Infant with Hypertrophic Pyloric Stenosis. J Pediatr 2019; 208292. <doi:10.1016/j.jpeds.2018.12.058>

https://www.ncbi.nlm.nih.gov/pubmed/30723016

Matsumura K, Matsuzaki Y, Hida M, Ikeda K, Awazu M. Tubular dysfunction in extremely low birth weight survivors. Clin Exp Nephrol 2019; 23(3): 395-401. <doi:10.1007/s10157-018-1645-4>

https://www.ncbi.nlm.nih.gov/pubmed/30238383

Murai-Takeda A, Kanda T, Azegami T, Hirose H, Inokuchi M, Tokuyama H, Wakino S, Tokumura M, Kawabe H, Mori M, Itoh H. Low birth weight is associated with decline in renal function in Japanese male and female adolescents. Clin Exp Nephrol 2019; 23(12): 1364-1372. <doi:10.1007/s10157-019-01784-9>

https://www.ncbi.nlm.nih.gov/pubmed/31494799

Nishi K, Inoguchi T, Kamei K, Hamada R, Hataya H, Ogura M, Sato M, Yoshioka T, Ogata K, Ito S, Nakanishi K, Nozu K, Hamasaki Y, Ishikura K. Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. Clin Exp Nephrol 2019; 23(8): 1058-1065. <doi:10.1007/s10157-019-01732-7>

https://www.ncbi.nlm.nih.gov/pubmed/30963316

Shima Y, Nakanishi K, Sako M, Saito-Oba M, Hamasaki Y, Hataya H, Honda M, Kamei K, Ishikura K, Ito S, Kaito H, Tanaka R, Nozu K, Nakamura H, Ohashi Y, Iijima K, Yoshikawa N, Japanese Study Group of Kidney Disease In C. Lisinopril versus lisinopril and losartan for mild childhood IgA nephropathy: a randomized controlled trial (JSKDC01 study). Pediatr Nephrol 2019; 34(5): 837-846. <doi:10.1007/s00467-018-4099-8>

https://www.ncbi.nlm.nih.gov/pubmed/30284023

＜先天代謝異常、内分泌疾患＞

Child C J, Zimmermann A G, Chrousos G P, Cummings E, Deal C L, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Perez Sanchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld R G, Yeste D, Yorifuji T, Blum W F. Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program. J Clin Endocrinol Metab 2019; 104(2): 379-389. <doi:10.1210/jc.2018-01189>

https://www.ncbi.nlm.nih.gov/pubmed/30219920

https://www.ncbi.nlm.nih.gov/pubmed/30985895

Hatabu N, Amano N, Mori J, Hasegawa Y, Matsuura H, Sumitomo N, Nishizawa K, Suzuki M, Katakura S, Kanamoto N, Kamimaki T, Ishii T, Hasegawa T. Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab 2019; 104(5): 1866-1870. <doi:10.1210/jc.2018-01752>

https://www.ncbi.nlm.nih.gov/pubmed/30476142

Hatabu N, Katori N, Sato T, Maeda N, Suzuki E, Komiyama O, Tsutsui H, Nagao T, Nakauchi-Takahashi H, Matsunaga T, Ishii T, Hasegawa T, Yamazawa K. A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism. Horm Res Paediatr 2019; 92(1): 56-63. <doi:10.1159/000495800>

https://www.ncbi.nlm.nih.gov/pubmed/30739106

Hosokawa M, Shibata H, Hosokawa T, Irie J, Ito H, Hasegawa T. Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature. J Pediatr Endocrinol Metab 2019; 32(5): 537-541. <doi:10.1515/jpem-2018-0356>

https://www.ncbi.nlm.nih.gov/pubmed/31075084

https://www.ncbi.nlm.nih.gov/pubmed/31189769

https://www.ncbi.nlm.nih.gov/pubmed/31257942

Ishii T, Hori N, Amano N, Aya M, Shibata H, Katsumata N, Hasegawa T. Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review. J Endocr Soc 2019; 3(7): 1367-1374. <doi:10.1210/js.2019-00086>

https://www.ncbi.nlm.nih.gov/pubmed/31286101

https://www.ncbi.nlm.nih.gov/pubmed/31885872

Li J, Abe K, Milanesi A, Liu Y Y, Brent G A. Thyroid Hormone Protects Primary Cortical Neurons Exposed to Hypoxia by Reducing DNA Methylation and Apoptosis. Endocrinology 2019; 160(10): 2243-2256. <doi:10.1210/en.2019-00125>

https://www.ncbi.nlm.nih.gov/pubmed/31095291

Matsushita R, Nagasaki K, Ayabe T, Miyoshi Y, Kinjo S, Haruna H, Ihara K, Hasegawa T, Ida S, Ozono K, Minamitani K, Thyroid Committee of the Japanese Society for Pediatric E. Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017. J Pediatr Endocrinol Metab 2019; 32(6): 585-595. <doi:10.1515/jpem-2018-0444>

https://www.ncbi.nlm.nih.gov/pubmed/31150358

Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T. A case report and literature review of monoallelic mutation of GHR. J Pediatr Endocrinol Metab 2019; 32(4): 415-419. <doi:10.1515/jpem-2018-0365>

https://www.ncbi.nlm.nih.gov/pubmed/30893054

Miyazawa S, Nakamura Y, Kosho T, Kawame H, Narumi S, Hasegawa T, Suzuki T, Kato H. Efficacy of denosumab therapy for osteoporosis-pseudoglioma syndrome with osteoporosis: a case report. Modern Rheumatology Case Reports 2019; 3(1): 45-48. <doi:10.1080/24725625.2018.1454573>

https://doi.org/10.1080/24725625.2018.1454573

Mizuno Y, Ishii T, Hasegawa T. In Vivo Verification of the Pathophysiology of Lipoid Congenital Adrenal Hyperplasia in the Adrenal Cortex. Endocrinology 2019; 160(2): 331-338. <doi:10.1210/en.2018-00777>

https://www.ncbi.nlm.nih.gov/pubmed/30576426

Nagahara K, Hachiya R, Tada H, Okada H, Yamagishi M, Dobashi K, Mizuno K, Hasegawa Y. A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene. Clin Pediatr Endocrinol 2019; 28(1): 19-22. <doi:10.1297/cpe.28.19>

https://www.ncbi.nlm.nih.gov/pubmed/30745730

Nagamatsu F, Satoh S, Ogiwara Y, Shimura K, Shimada A, Hachiya R, Hasegawa Y. Treatment of adrenal crisis in patients with primary hypoadrenalism can lead to hypertension. Clin Pediatr Endocrinol 2019; 28(2): 25-30. <doi:10.1297/cpe.28.25>

https://www.ncbi.nlm.nih.gov/pubmed/31037020

https://www.ncbi.nlm.nih.gov/pubmed/31158835

https://www.ncbi.nlm.nih.gov/pubmed/30745728

https://www.ncbi.nlm.nih.gov/pubmed/30213762

Sasaki G, Ishii T, Hori N, Amano N, Homma K, Sato S, Hasegawa T. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5alpha-reductase type 2 deficiency. Endocr J 2019; 66(9): 837-842. <doi:10.1507/endocrj.EJ19-0111>

https://www.ncbi.nlm.nih.gov/pubmed/31178538

Shimura K, Shibata H, Mizuno Y, Amano N, Hoshino K, Kuroda T, Kameyama K, Matsuse M, Mitsutake N, Sugino K, Yoshimura Noh J, Hasegawa T, Ishii T. Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves’ Disease. Horm Res Paediatr 2019; 91(3): 210-215. <doi:10.1159/000491102>

https://www.ncbi.nlm.nih.gov/pubmed/30092570

Sugisawa C, Takamizawa T, Abe K, Hasegawa T, Shiga K, Sugawara H, Ohsugi K, Muroya K, Asakura Y, Adachi M, Daitsu T, Numakura C, Koike A, Tsubaki J, Kitsuda K, Matsuura N, Taniyama M, Ishii S, Satoh T, Yamada M, Narumi S. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. J Clin Endocrinol Metab 2019; 104(12): 6229-6237. <doi:10.1210/jc.2019-00657>

https://www.ncbi.nlm.nih.gov/pubmed/31504637

Yamaguchi T, Hachiya R, Watanabe-Yamamoto S, Sawano K, Morikawa S, Nakamura A, Hasegawa Y. Hypoglycemia in type 1A diabetes can develop before insulin therapy: A retrospective cohort study. Diabetes Res Clin Pract 2019; 14787-92. <doi:10.1016/j.diabres.2018.11.011>

https://www.ncbi.nlm.nih.gov/pubmed/30481577

Yoshizaki K, Hachiya R, Tomobe Y, Kaku U, Akiba K, Shima H, Narumi S, Hasegawa Y. MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report. Clin Pediatr Endocrinol 2019; 28(4): 147-153. <doi:10.1297/cpe.28.147>

https://www.ncbi.nlm.nih.gov/pubmed/31666768

＜免疫異常、膠原病、リウマチ性疾患、感染症＞

Asakura M, Tanaka T, Shoji K, Karakawa S, Ishiguro A, Miyairi I. Chronic Neutropenia in Children With Abscess Forming Cervical Lymphadenitis Caused by Staphylococcus aureus. Pediatr Infect Dis J 2019; 38(3): 293-296. <doi:10.1097/INF.0000000000002059>

https://www.ncbi.nlm.nih.gov/pubmed/29613972

Fukui K O, Shoji K, Nagai Y, Shindo T, Hikosaka M, Kuwahara K, Ishiguro A, Miyairi I. Ecthyma gangrenosum in a 3-year-old boy post-heart transplantation. Transpl Infect Dis 2019; 21(4): e13131. <doi:10.1111/tid.13131>

https://www.ncbi.nlm.nih.gov/pubmed/31216602

https://www.ncbi.nlm.nih.gov/pubmed/31123179

Iio K, Ogawa Y, Ihara T, Horikoshi Y, Hataya H. Nuchal Rigidity in Infantile Bacterial Meningitis. J Pediatr 2019; 207255. <doi:10.1016/j.jpeds.2018.10.008>

https://www.ncbi.nlm.nih.gov/pubmed/30384970

Ikenori M, Shoji K, Matsui T, Ishiguro A, Kono N, Miyairi I. A pediatric case of acute neck swelling due to bilateral submandibular sialadenitis following influenza A infection. IDCases 2019; 15e00517. <doi:10.1016/j.idcr.2019.e00517>

https://www.ncbi.nlm.nih.gov/pubmed/30993076

Kanamori K, Shoji K, Kinoshita N, Ishiguro A, Miyairi I. Complications of herpes zoster in children. Pediatr Int 2019; 61(12): 1216-1220. <doi:10.1111/ped.14025>

https://www.ncbi.nlm.nih.gov/pubmed/31628883

Kinoshita N, Morisaki N, Uda K, Kasai M, Horikoshi Y, Miyairi I. Nationwide study of outpatient oral antimicrobial utilization patterns for children in Japan (2013-2016). J Infect Chemother 2019; 25(1): 22-27. <doi:10.1016/j.jiac.2018.10.002>

https://www.ncbi.nlm.nih.gov/pubmed/30396820

https://www.ncbi.nlm.nih.gov/pubmed/31078633

Kobayashi K, Asakura T, Kawada I, Hasegawa H, Chubachi S, Ohara K, Kuramoto J, Sugiura H, Fujishima S, Iwata S, Umeyama T, Katano H, Uwamino Y, Miyazaki Y, Kamei K, Hasegawa N, Betsuyaku T. Disseminated histoplasmosis from a calcified lung nodule after long-term corticosteroid therapy in an elderly Japanese patient: A case report. Medicine (Baltimore) 2019; 98(17): e15264. <doi:10.1097/MD.0000000000015264>

https://www.ncbi.nlm.nih.gov/pubmed/31027078

https://www.ncbi.nlm.nih.gov/pubmed/30859591

Koinuma G, Shinjoh M, Kageyama T, Nakazawa M, Kamimaki I. Round pneumonia due to Chlamydia pneumoniae in a child. Radiol Case Rep 2019; 14(4): 436-438. <doi:10.1016/j.radcr.2019.01.010>

https://www.ncbi.nlm.nih.gov/pubmed/30701012

https://www.ncbi.nlm.nih.gov/pubmed/30825467

Miyoshi-Akiyama T, Ohnishi T, Shinjoh M, Ohara H, Kawai T, Kamimaki I, Mizushima R, Kamada K, Itakura Y, Iguchi S, Uzawa Y, Yoshida A, Kikuchi K, Takemoto N. Complete Genome Sequences of Staphylococcus argenteus TWCC 58113, Which Bears Two Plasmids. Microbiol Resour Announc 2019; 8(17). <doi:10.1128/MRA.01582-18>

https://www.ncbi.nlm.nih.gov/pubmed/31023804

https://www.ncbi.nlm.nih.gov/pubmed/30682454

https://www.ncbi.nlm.nih.gov/pubmed/30471303

Nakayama T. Causal relationship between immunological responses and adverse reactions following vaccination. Vaccine 2019; 37(2): 366-371. <doi:10.1016/j.vaccine.2018.11.045>

https://www.ncbi.nlm.nih.gov/pubmed/30503656

Ogawa E, Shoji K, Miyairi I. Fever as a predictor of positive lymphocyte transformation test. Pediatr Int 2019; 61(10): 951-955. <doi:10.1111/ped.13937>

https://www.ncbi.nlm.nih.gov/pubmed/31267605

https://www.ncbi.nlm.nih.gov/pubmed/30074577

Otani Y, Aizawa Y, Hataya H, Horikoshi Y. Diagnostic errors in pediatric bacterial osteomyelitis. Pediatr Int 2019; 61(10): 988-993. <doi:10.1111/ped.13979>

https://www.ncbi.nlm.nih.gov/pubmed/31332931

https://www.ncbi.nlm.nih.gov/pubmed/30366747

Sakata H, Watanabe A, Iwata S, Sato Y, Suzuki K, Miyashita N, Hori S, Yamaguchi Y, Odajima M, Katakuse Y, Hasegawa T, Maki N, Wada K. Surveillance on susceptibility of strains isolated from pediatric infections. J Infect Chemother 2019; 25(3): 163-169. <doi:10.1016/j.jiac.2018.11.004>

https://www.ncbi.nlm.nih.gov/pubmed/30600131

Shinjoh M, Sugaya N, Furuichi M, Araki E, Maeda N, Isshiki K, Ohnishi T, Nakamura S, Yamada G, Narabayashi A, Nishida M, Taguchi N, Nakata Y, Yoshida M, Tsunematsu K, Shibata M, Munenaga T, Hirano Y, Ookawara I, Sekiguchi S, Kobayashi Y, Yamaguchi Y, Yoshida N, Mitamura K, Takahashi T, Keio Pediatric Influenza Research G. Effectiveness of inactivated influenza vaccine in children by vaccine dose, 2013-18. Vaccine 2019; 37(30): 4047-4054. <doi:10.1016/j.vaccine.2019.05.090>

https://www.ncbi.nlm.nih.gov/pubmed/31186191

Shoji K, Imadome K I, Miyairi I, Yoshida K, Ishiguro A. Multiple round ulcers after mosquito bites in a pediatric patient with chronic active EBV infection. Pediatr Int 2019; 61(1): 109-110. <doi:10.1111/ped.13727>

https://www.ncbi.nlm.nih.gov/pubmed/30734426

Shoji K, Saito J, Oho Y, Matsumoto S, Aoki S, Fukuda A, Sakamoto S, Kasahara M, Capparelli E, Miyairi I. Meropenem pharmacokinetics during relapsing peritonitis due to ESBL-producing Enterobacteriaciae in a liver transplant recipient. Clin Case Rep 2019; 7(11): 2169-2173. <doi:10.1002/ccr3.2398>

https://www.ncbi.nlm.nih.gov/pubmed/31788272

Shoji K, Tsuboi N, Arakawa R, Ide K, Mikami M, Kato A, Miyairi I. Continuous Monitoring and Feedback Optimizes Blood Volume Inoculated Into Culture Bottles in the Pediatric Intensive Care Unit. J Pediatric Infect Dis Soc 2019; 8(2): 166-169. <doi:10.1093/jpids/piy061>

https://www.ncbi.nlm.nih.gov/pubmed/30010914

https://www.ncbi.nlm.nih.gov/pubmed/31166013

Takashita E, Ichikawa M, Morita H, Ogawa R, Fujisaki S, Shirakura M, Miura H, Nakamura K, Kishida N, Kuwahara T, Sugawara H, Sato A, Akimoto M, Mitamura K, Abe T, Yamazaki M, Watanabe S, Hasegawa H, Odagiri T. Human-to-Human Transmission of Influenza A(H3N2) Virus with Reduced Susceptibility to Baloxavir, Japan, February 2019. Emerg Infect Dis 2019; 25(11): 2108-2111. <doi:10.3201/eid2511.190757>

https://www.ncbi.nlm.nih.gov/pubmed/31436527

Takashita E, Kawakami C, Morita H, Ogawa R, Fujisaki S, Shirakura M, Miura H, Nakamura K, Kishida N, Kuwahara T, Mitamura K, Abe T, Ichikawa M, Yamazaki M, Watanabe S, Odagiri T, On Behalf of the Influenza Virus Surveillance Group Of J. Detection of influenza A(H3N2) viruses exhibiting reduced susceptibility to the novel cap-dependent endonuclease inhibitor baloxavir in Japan, December 2018. Euro Surveill 2019; 24(3). <doi:10.2807/1560-7917.ES.2019.24.3.1800698>

https://www.ncbi.nlm.nih.gov/pubmed/30670142

Tao C, Kinoshita N, Shoji K, Motooka D, Nakamura S, Eura R, Ueoka K, Kubota M, Ishiguro A, Miyairi I. Urinary tract infection due to anaerobic bacteria in a two-month-old infant. J Infect Chemother 2019; 25(5): 368-370. <doi:10.1016/j.jiac.2018.11.016>

https://www.ncbi.nlm.nih.gov/pubmed/30686700

Ubukata K, Morozumi M, Sakuma M, Adachi Y, Mokuno E, Tajima T, Iwata S, Group A O M S S. Genetic characteristics and antibiotic resistance of Haemophilus influenzae isolates from pediatric patients with acute otitis media after introduction of 13-valent pneumococcal conjugate vaccine in Japan. J Infect Chemother 2019; 25(9): 720-726. <doi:10.1016/j.jiac.2019.03.019>

https://www.ncbi.nlm.nih.gov/pubmed/30987951

Uchida H, Tada T, Tohya M, Sugahara Y, Kato A, Miyairi I, Kirikae T. Emergence in Japan of an isolate of Klebsiella pneumoniae co-harbouring blaKPC-2 and rmtB. J Glob Antimicrob Resist 2019; 17157-159. <doi:10.1016/j.jgar.2018.11.026>

https://www.ncbi.nlm.nih.gov/pubmed/30553930

Uda K, Kinoshita N, Morisaki N, Kasai M, Horikoshi Y, Miyairi I. Targets for Optimizing Oral Antibiotic Prescriptions for Pediatric Outpatients in Japan. Jpn J Infect Dis 2019; 72(3): 149-159. <doi:10.7883/yoken.JJID.2018.374>

https://www.ncbi.nlm.nih.gov/pubmed/30584195

Uda K, Okubo Y, Kinoshita N, Morisaki N, Kasai M, Horikoshi Y, Miyairi I. Nationwide survey of indications for oral antimicrobial prescription for pediatric patients from 2013 to 2016 in Japan. J Infect Chemother 2019; 25(10): 758-763. <doi:10.1016/j.jiac.2019.03.004>

https://www.ncbi.nlm.nih.gov/pubmed/31235350

Uehara E, Shoji K, Mikami M, Ishiguro A, Miyairi I. Utility of follow-up blood cultures for Gram-negative rod bacteremia in children. J Infect Chemother 2019; 25(9): 738-741. <doi:10.1016/j.jiac.2019.04.014>

https://www.ncbi.nlm.nih.gov/pubmed/31155450

Uehara Y, Sasaki T, Baba T, Lu Y, Imajo E, Sato Y, Tanno S, Furuichi M, Kawada M, Hiramatsu K. Regional outbreak of community-associated methicillin-resistant Staphylococcus aureus ST834 in Japanese children. BMC Infect Dis 2019; 19(1): 35. <doi:10.1186/s12879-018-3646-z>

https://www.ncbi.nlm.nih.gov/pubmed/30626342

https://www.ncbi.nlm.nih.gov/pubmed/30836661

Yanagihara K, Matsumoto T, Aoki N, Sato J, Wakamura T, Kiyota H, Tateda K, Hanaki H, Ohsaki Y, Fujiuchi S, Takahashi M, Akiba Y, Masunaga S, Takeuchi K, Takeda H, Miki M, Kumagai T, Takahashi H, Utagawa M, Nishiya H, Kawakami S, Ishigaki S, Kobayasi N, Takasaki J, Mezaki K, Iwata S, Katouno Y, Inose R, Niki Y, Kawana A, Fujikura Y, Kudo M, Hirano T, Yamamoto M, Miyazawa N, Tsukada H, Aso S, Yamamoto Y, Iinuma Y, Mikamo H, Yamagishi Y, Nakamura A, Ohashi M, Kawabata A, Sugaki Y, Seki M, Hamaguchi S, Toyokawa M, Kakeya H, Fujikawa Y, Mitsuno N, Ukimura A, Miyara T, Hayasi M, Mikasa K, Kasahara K, Koizumi A, Korohasi N, Matumoto T, Yosimura Y, Katanami Y, Takesue Y, Wada Y, Sugimoto K, Yamamoto T, Kuwabara M, Doi M, Simizu S, Tokuyasu H, Hino S, Negayama K, Mukae H, Kawanami T, Yatera K, Fujita M, Kadota J, Hiramatsu K, Aoki Y, Magarifuchi H, Oho M, Morinaga Y, Suga M, Muranaka H, Fujita J, Higa F, Tateyama M. Nationwide surveillance of bacterial respiratory pathogens conducted by the surveillance committee of Japanese Society of Chemotherapy, the Japanese Association for Infectious Diseases, and the Japanese Society for clinical microbiology in 2014: General view of the pathogens’ antibacterial susceptibility. J Infect Chemother 2019; 25(9): 657-668. <doi:10.1016/j.jiac.2019.05.006>

https://www.ncbi.nlm.nih.gov/pubmed/31196772

Yoshida M, Shoji K, Yasuda H, Miyairi I, Yoshida K. Relapsing perianal Herpes simplex virus type 2 infection in an infant. Pediatr Int 2019; 61(9): 939-940. <doi:10.1111/ped.13925>

https://www.ncbi.nlm.nih.gov/pubmed/31569289

Yoshida N, Kobayashi S, Suzuki J, Azuma Y, Kobayashi-Ogata N, Kartikasari D P, Yanagawa Y, Iwata S. Growth-promoting effects of the hydrogen-sulfide compounds produced by Desulfovibrio desulfuricans subsp. desulfuricans co-cultured with Escherichia coli (DH5alpha) on the growth of Entamoeba and Endolimax species isolates from swine. Biosci Trends 2019; 13(5): 402-410. <doi:10.5582/bst.2019.01233>

https://www.ncbi.nlm.nih.gov/pubmed/31597818