Publications 2018

2018年】

<遺伝、染色体異常、先天奇形>

Arae K, Morita H, Unno H, Motomura K, Toyama S, Okada N, Ohno T, Tamari M, Orimo K, Mishima Y, Suto H, Okumura K, Sudo K, Miyazawa H, Taguchi H, Saito H, Matsumoto K, Nakae S. Chitin promotes antigen-specific Th2 cell-mediated murine asthma through induction of IL-33-mediated IL-1beta production by DCs. Sci Rep 2018; 8(1): 11721. <doi:10.1038/s41598-018-30259-2>

https://www.ncbi.nlm.nih.gov/pubmed/30082755

 

Arimitsu T, Minagawa Y, Yagihashi T, M O U, Matsuzaki A, Ikeda K, Takahashi T. The cerebral hemodynamic response to phonetic changes of speech in preterm and term infants: The impact of postmenstrual age. Neuroimage Clin 2018; 19599-606. <doi:10.1016/j.nicl.2018.05.005>

https://www.ncbi.nlm.nih.gov/pubmed/29984167

 

Chai M, Sanosaka T, Okuno H, Zhou Z, Koya I, Banno S, Andoh-Noda T, Tabata Y, Shimamura R, Hayashi T, Ebisawa M, Sasagawa Y, Nikaido I, Okano H, Kohyama J. Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors. Genes Dev 2018; 32(2): 165-180. <doi:10.1101/gad.301887.117>

https://www.ncbi.nlm.nih.gov/pubmed/29440260

 

Harigai R, Sakai S, Nobusue H, Hirose C, Sampetrean O, Minami N, Hata Y, Kasama T, Hirose T, Takenouchi T, Kosaki K, Kishi K, Saya H, Arima Y. Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells. Sci Rep 2018; 8(1): 6069. <doi:10.1038/s41598-018-24484-y>

https://www.ncbi.nlm.nih.gov/pubmed/29666462

 

Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T. An association with hypopituitarism and 9q subtelomere deletion syndrome. Clin Case Rep 2018; 6(12): 2371-2375. <doi:10.1002/ccr3.1591>

https://www.ncbi.nlm.nih.gov/pubmed/30564331

 

Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Kanekura K, Satoh T, Fukuda K, Gamou S, Kosaki K. SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. Am J Respir Crit Care Med 2018; 198(9): 1231-1233. <doi:10.1164/rccm.201804-0766LE>

https://www.ncbi.nlm.nih.gov/pubmed/30044643

 

Hiraishi Y, Yamaguchi S, Yoshizaki T, Nambu A, Shimura E, Takamori A, Narushima S, Nakanishi W, Asada Y, Numata T, Suzukawa M, Yamauchi Y, Matsuda A, Arae K, Morita H, Hoshino T, Suto H, Okumura K, Matsumoto K, Saito H, Sudo K, Iikura M, Nagase T, Nakae S. IL-33, IL-25 and TSLP contribute to development of fungal-associated protease-induced innate-type airway inflammation. Sci Rep 2018; 8(1): 18052. <doi:10.1038/s41598-018-36440-x>

https://www.ncbi.nlm.nih.gov/pubmed/30575775

 

Hori I, Miya F, Negishi Y, Hattori A, Ando N, Boroevich K A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. J Hum Genet 2018; 63(9): 957-963. <doi:10.1038/s10038-018-0482-3>

https://www.ncbi.nlm.nih.gov/pubmed/29907875

 

Ichihashi Y, Takagi M, Ishii T, Watanabe K, Nishimura G, Hasegawa T. Two novel mutations of COMP in Japanese boys with pseudoachondroplasia. Hum Genome Var 2018; 512. <doi:10.1038/s41439-018-0012-z>

https://www.ncbi.nlm.nih.gov/pubmed/29899997

 

Ichimiya Y, Wada Y, Kunishima S, Tsukamoto K, Kosaki R, Sago H, Ishiguro A, Ito Y. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report. J Med Case Rep 2018; 12(1): 3. <doi:10.1186/s13256-017-1535-5>

https://www.ncbi.nlm.nih.gov/pubmed/29307309

 

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Ichihashi Y, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M. Discordant fetal phenotype of hypophosphatasia in two siblings. Am J Med Genet A 2018; 176(1): 171-174. <doi:10.1002/ajmg.a.38531>

https://www.ncbi.nlm.nih.gov/pubmed/29160033

 

Kawaguchi T, Yoshida T, Hirahashi J, Uehara T, Takenouchi T, Kosaki K, Itoh H, Hayashi M. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. Nephron 2018; 140(1): 74-78. <doi:10.1159/000490770>

https://www.ncbi.nlm.nih.gov/pubmed/29991045

 

Kosaki R, Horikawa R, Fujii E, Kosaki K. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A 2018; 176(2): 404-408. <doi:10.1002/ajmg.a.38552>

https://www.ncbi.nlm.nih.gov/pubmed/29205794

 

Kosaki R, Ono H, Terashima H, Kosaki K. Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval. Am J Med Genet A 2018; 176(7): 1657-1661. <doi:10.1002/ajmg.a.38833>

https://www.ncbi.nlm.nih.gov/pubmed/29736926

 

Kusano C, Hori N, Izawa K, Kosaki R, Nishimura G, Hasegawa T. Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report. Oral Science International 2018; 15(2): 90-92. <doi:10.1016/s1348-8643(18)30008-9>

https://dx.doi.org/10.1016/s1348-8643(18)30008-9

 

Morimoto N, Mutai H, Namba K, Kaneko H, Kosaki R, Matsunaga T. Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. Auris Nasus Larynx 2018; 45(2): 222-226. <doi:10.1016/j.anl.2017.03.022>

https://www.ncbi.nlm.nih.gov/pubmed/28502583

 

Namkoong H, Yamazaki M, Ishizaki M, Endo I, Harada N, Aramaki M, Tanaka Y, Kaburagi S, Ichikawa M, Ohata T, Sakaguchi S, Saito F, Nakao A, Yuki H, Mitamura K. Clinical Evaluation of the Immunochromatographic System Using Silver Amplification for the Rapid Detection of Mycoplasma pneumoniae. Sci Rep 2018; 8(1): 1430. <doi:10.1038/s41598-018-19734-y>

https://www.ncbi.nlm.nih.gov/pubmed/29362380

 

Okada Y, Momozawa Y, Sakaue S, Kanai M, Ishigaki K, Akiyama M, Kishikawa T, Arai Y, Sasaki T, Kosaki K, Suematsu M, Matsuda K, Yamamoto K, Kubo M, Hirose N, Kamatani Y. Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese. Nat Commun 2018; 9(1): 1631. <doi:10.1038/s41467-018-03274-0>

https://www.ncbi.nlm.nih.gov/pubmed/29691385

 

Saito A, Ooki A, Nakamura T, Onodera S, Hayashi K, Hasegawa D, Okudaira T, Watanabe K, Kato H, Onda T, Watanabe A, Kosaki K, Nishimura K, Ohtaka M, Nakanishi M, Sakamoto T, Yamaguchi A, Sueishi K, Azuma T. Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model. Stem Cell Res Ther 2018; 9(1): 12. <doi:10.1186/s13287-017-0754-4>

https://www.ncbi.nlm.nih.gov/pubmed/29357927

 

Sakaguchi Y, Uehara T, Suzuki H, Sakamoto Y, Fujiwara M, Kosaki K, Takenouchi T. Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis. Am J Med Genet A 2018; 176(11): 2466-2469. <doi:10.1002/ajmg.a.40354>

https://www.ncbi.nlm.nih.gov/pubmed/30289594

 

Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich K A, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. Sci Rep 2018; 8(1): 10367. <doi:10.1038/s41598-018-28698-y>

https://www.ncbi.nlm.nih.gov/pubmed/29970886

 

Shigemizu D, Miya F, Akiyama S, Okuda S, Boroevich K A, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis. Sci Rep 2018; 8(1): 5608. <doi:10.1038/s41598-018-23978-z>

https://www.ncbi.nlm.nih.gov/pubmed/29618752

 

Suzuki H, Kataoka M, Hiraide T, Aimi Y, Yamada Y, Katsumata Y, Chiba T, Kanekura K, Isobe S, Sato Y, Satoh T, Gamou S, Fukuda K, Kosaki K. Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension. Circ Genom Precis Med 2018; 11(12): e002317. <doi:10.1161/CIRCGEN.118.002317>

https://www.ncbi.nlm.nih.gov/pubmed/30562119

 

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet 2018; 63(12): 1277-1281. <doi:10.1038/s10038-018-0513-0>

https://www.ncbi.nlm.nih.gov/pubmed/30228365

 

Takamori A, Nambu A, Sato K, Yamaguchi S, Matsuda K, Numata T, Sugawara T, Yoshizaki T, Arae K, Morita H, Matsumoto K, Sudo K, Okumura K, Kitaura J, Matsuda H, Nakae S. IL-31 is crucial for induction of pruritus, but not inflammation, in contact hypersensitivity. Sci Rep 2018; 8(1): 6639. <doi:10.1038/s41598-018-25094-4>

https://www.ncbi.nlm.nih.gov/pubmed/29703903

 

Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1. Am J Med Genet A 2018; 176(2): 431-437. <doi:10.1002/ajmg.a.38543>

https://www.ncbi.nlm.nih.gov/pubmed/29168298

 

Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. Am J Med Genet A 2018; 176(12): 2777-2780. <doi:10.1002/ajmg.a.40525>

https://www.ncbi.nlm.nih.gov/pubmed/30450715

 

Takenouchi T, Uehara T, Kosaki K, Mizuno S. Growth pattern of Rahman syndrome. Am J Med Genet A 2018; 176(3): 712-714. <doi:10.1002/ajmg.a.38616>

https://www.ncbi.nlm.nih.gov/pubmed/29383847

 

Uehara T, Hosogaya N, Matsuo N, Kosaki K. Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. Am J Med Genet A 2018; 176(7): 1662-1666. <doi:10.1002/ajmg.a.38834>

https://www.ncbi.nlm.nih.gov/pubmed/29737035

 

Uehara T, Ishige T, Hattori S, Yoshihashi H, Funato M, Yamaguchi Y, Takenouchi T, Kosaki K. Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation. Am J Med Genet A 2018; 176(6): 1335-1340. <doi:10.1002/ajmg.a.38703>

https://www.ncbi.nlm.nih.gov/pubmed/29663678

 

Uehara T, Takenouchi T, Kosaki R, Kurosawa K, Mizuno S, Kosaki K. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. Eur J Med Genet 2018; 61(5): 243-247. <doi:10.1016/j.ejmg.2017.12.004>

https://www.ncbi.nlm.nih.gov/pubmed/29222009

 

Ueno-Yokohata H, Okita H, Nakasato K, Hishiki T, Shirai R, Tsujimoto S, Osumi T, Yoshimura S, Yamada Y, Shioda Y, Kiyotani C, Terashima K, Miyazaki O, Matsumoto K, Kiyokawa N, Yoshioka T, Kato M. Preoperative diagnosis of clear cell sarcoma of the kidney by detection of BCOR internal tandem duplication in circulating tumor DNA. Genes Chromosomes Cancer 2018; 57(10): 525-529. <doi:10.1002/gcc.22648>

https://www.ncbi.nlm.nih.gov/pubmed/30126017

 

Unzaki A, Morisada N, Nozu K, Ye M J, Ito S, Matsunaga T, Ishikura K, Ina S, Nagatani K, Okamoto T, Inaba Y, Ito N, Igarashi T, Kanda S, Ito K, Omune K, Iwaki T, Ueno K, Yahata M, Ohtsuka Y, Nishi E, Takahashi N, Ishikawa T, Goto S, Okamoto N, Iijima K. Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. J Hum Genet 2018; 63(5): 647-656. <doi:10.1038/s10038-018-0429-8>

https://www.ncbi.nlm.nih.gov/pubmed/29500469

 

Yamaguchi S, Nambu A, Numata T, Yoshizaki T, Narushima S, Shimura E, Hiraishi Y, Arae K, Morita H, Matsumoto K, Hisatome I, Sudo K, Nakae S. The roles of IL-17C in T cell-dependent and -independent inflammatory diseases. Sci Rep 2018; 8(1): 15750. <doi:10.1038/s41598-018-34054-x>

https://www.ncbi.nlm.nih.gov/pubmed/30356086

 

Yasuhara J, Omori S, Maeda J, Nakagawa N, Kamada M, Kosaki K, Aeba R, Yamagishi H. Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism. Can J Cardiol 2018; 34(5): 690 e695-690 e698. <doi:10.1016/j.cjca.2018.02.008>

https://www.ncbi.nlm.nih.gov/pubmed/29731032

 

Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. Brain Dev 2018; 40(4): 343-347. <doi:10.1016/j.braindev.2017.12.001>

https://www.ncbi.nlm.nih.gov/pubmed/29273277

 

<栄養障害、代謝性疾患、消化器疾患>

Inokuchi M, Matsuo N, J I T, Hasegawa T. Prevalence of central fatness in 1992-1994: 40% of Japanese boys 6-17 years. Endocr J 2018; 65(2): 213-220. <doi:10.1507/endocrj.EJ17-0357>

https://www.ncbi.nlm.nih.gov/pubmed/29225206

 

Inokuchi M, Matsuo N, Takayama J I, Hasegawa T. WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children. J Pediatr Endocrinol Metab 2018; 31(1): 33-38. <doi:10.1515/jpem-2017-0303>

https://www.ncbi.nlm.nih.gov/pubmed/29267170

 

Takenouchi T, Uehara T, Kosaki K, Mizuno S. Growth pattern of Rahman syndrome. Am J Med Genet A 2018; 176(3): 712-714. <doi:10.1002/ajmg.a.38616>

https://www.ncbi.nlm.nih.gov/pubmed/29383847

 

<血液疾患、腫瘍>

Alexander T B, Gu Z, Iacobucci I, Dickerson K, Choi J K, Xu B, Payne-Turner D, Yoshihara H, Loh M L, Horan J, Buldini B, Basso G, Elitzur S, De Haas V, Zwaan C M, Yeoh A, Reinhardt D, Tomizawa D, Kiyokawa N, Lammens T, De Moerloose B, Catchpoole D, Hori H, Moorman A, Moore A S, Hrusak O, Meshinchi S, Orgel E, Devidas M, Borowitz M, Wood B, Heerema N A, Carrol A, Yang Y L, Smith M A, Davidsen T M, Hermida L C, Gesuwan P, Marra M A, Ma Y, Mungall A J, Moore R A, Jones S J M, Valentine M, Janke L J, Rubnitz J E, Pui C H, Ding L, Liu Y, Zhang J, Nichols K E, Downing J R, Cao X, Shi L, Pounds S, Newman S, Pei D, Guidry Auvil J M, Gerhard D S, Hunger S P, Inaba H, Mullighan C G. The genetic basis and cell of origin of mixed phenotype acute leukaemia. Nature 2018; 562(7727): 373-379. <doi:10.1038/s41586-018-0436-0>

https://www.ncbi.nlm.nih.gov/pubmed/30209392

 

Amano H, Uchida H, Tanaka Y, Tainaka T, Mori M, Oguma E, Kishimoto H, Kawashima H, Arakawa Y, Hanada R, Koh K. Excellent prognosis of patients with intermediate-risk neuroblastoma and residual tumor postchemotherapy. J Pediatr Surg 2018; 53(9): 1761-1765. <doi:10.1016/j.jpedsurg.2017.10.061>

https://www.ncbi.nlm.nih.gov/pubmed/29195808

 

Churchman M L, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters J L, Devidas M, Larsen E, Moore I M, Gu Z, Qu C, Yoshihara H, Porter S N, Pruett-Miller S M, Wu G, Raetz E, Martin P L, Bowman W P, Winick N, Mardis E, Fulton R, Stanulla M, Evans W E, Relling M V, Pui C H, Hunger S P, Loh M L, Handgretinger R, Nichols K E, Yang J J, Mullighan C G. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell 2018; 33(5): 937-948 e938. <doi:10.1016/j.ccell.2018.03.021>

https://www.ncbi.nlm.nih.gov/pubmed/29681510

 

Hiroyuki Shimada A K, Haruko Shima, Chikako Tono, Yuki Yazu, Hidemitsu Kurosawa, Akihiro Watanabe, Masaki Ito, Hideko Uryu, Kiyoko Kamibeppu, Nobutaka Kiyokawa, Souichi Adachi, Akiko M. Saito, Akihiko Tanizawa. Rationale and Design of a Prospective, Multicentre, Stop Tyrosine Kinase Inhibitor Trial of Paediatric Patients with Chronic Myeloid Leukaemia with Sustained Complete Molecular Response (STKI-14). Hiroshima Journal of Medical Sciences 2018. <doi:10.24811/hjms.67.1_7>

https://dx.doi.org/10.24811/hjms.67.1_7

 

Iijima-Yamashita Y, Matsuo H, Yamada M, Deguchi T, Kiyokawa N, Shimada A, Tawa A, Takahashi H, Tomizawa D, Taga T, Kinoshita A, Adachi S, Horibe K. Multiplex fusion gene testing in pediatric acute myeloid leukemia. Pediatr Int 2018; 60(1): 47-51. <doi:10.1111/ped.13451>

https://www.ncbi.nlm.nih.gov/pubmed/29105243

 

Kinoshita N, Shoji K, Funaki T, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Safety of BCG Vaccination in Pediatric Liver Transplant Recipients. Transplantation 2018; 102(4): e125. <doi:10.1097/TP.0000000000002103>

https://www.ncbi.nlm.nih.gov/pubmed/29346255

 

Koga Y, Baba S, Fukano R, Nakamura K, Soejima T, Maeda N, Sunami S, Ueyama J, Mitsui T, Mori T, Osumi T, Sekimizu M, Ohki K, Tanaka F, Kamei M, Fujita N, Mori T, Saito A M, Kada A, Kobayashi R. The Effect of Interim FDG-PET-guided Response-Adapted Therapy in Pediatric Patients with Hodgkin’s Lymphoma (HL-14) : Protocol for a Phase II Study. Acta Med Okayama 2018; 72(4): 437-440. <doi:10.18926/AMO/56185>

https://www.ncbi.nlm.nih.gov/pubmed/30140095

 

Kurosawa H, Tanizawa A, Muramatsu H, Tono C, Watanabe A, Shima H, Ito M, Yuza Y, Hamamoto K, Hotta N, Okada M, Saito A M, Manabe A, Mizutani S, Adachi S, Horibe K, Ishii E, Shimada H. Sequential use of second-generation tyrosine kinase inhibitors following imatinib therapy in pediatric chronic myeloid leukemia: A report from the Japanese Pediatric Leukemia/Lymphoma Study Group. Pediatr Blood Cancer 2018; 65(12): e27368. <doi:10.1002/pbc.27368>

https://www.ncbi.nlm.nih.gov/pubmed/30084127

 

Kuwatsuka Y, Tomizawa D, Kihara R, Nagata Y, Shiba N, Iijima-Yamashita Y, Shimada A, Deguchi T, Miyachi H, Tawa A, Taga T, Kinoshita A, Nakayama H, Kiyokawa N, Saito A M, Koh K, Goto H, Kosaka Y, Asou N, Ohtake S, Miyawaki S, Miyazaki Y, Sakura T, Ozawa Y, Usui N, Kanamori H, Ito Y, Imai K, Suehiro Y, Kobayashi S, Kitamura K, Sakaida E, Ogawa S, Naoe T, Hayashi Y, Horibe K, Manabe A, Mizutani S, Adachi S, Kiyoi H. Prognostic value of genetic mutations in adolescent and young adults with acute myeloid leukemia. Int J Hematol 2018; 107(2): 201-210. <doi:10.1007/s12185-017-2340-z>

https://www.ncbi.nlm.nih.gov/pubmed/29027108

 

Matsuo H, Iijima-Yamashita Y, Yamada M, Deguchi T, Kiyokawa N, Shimada A, Tawa A, Tomizawa D, Taga T, Kinoshita A, Adachi S, Horibe K. Monitoring of fusion gene transcripts to predict relapse in pediatric acute myeloid leukemia. Pediatr Int 2018; 60(1): 41-46. <doi:10.1111/ped.13440>

https://www.ncbi.nlm.nih.gov/pubmed/29067751

 

Mitsui-Sekinaka K, Sekinaka Y, Ogura Y, Honda M, Ohyama R, Oyama C, Isobe K, Mori M, Arakawa Y, Koh K, Hanada R, Nonoyama S, Kawaguchi H. A pediatric case of acute megakaryocytic leukemia with double chimeric transcripts of CBFA2T3-GLIS2 and DHH-RHEBL1. Leuk Lymphoma 2018; 59(6): 1511-1513. <doi:10.1080/10428194.2017.1387901>

https://www.ncbi.nlm.nih.gov/pubmed/29043865

 

Morimoto A, Shioda Y, Imamura T, Kudo K, Kitoh T, Kawaguchi H, Goto H, Kosaka Y, Tsunematsu Y, Imashuku S, Japan L C H S G. Intensification of induction therapy and prolongation of maintenance therapy did not improve the outcome of pediatric Langerhans cell histiocytosis with single-system multifocal bone lesions: results of the Japan Langerhans Cell Histiocytosis Study Group-02 Protocol Study. Int J Hematol 2018; 108(2): 192-198. <doi:10.1007/s12185-018-2444-0>

https://www.ncbi.nlm.nih.gov/pubmed/29594922

 

Nogami K, Shima M, Fukutake K, Fujii T, Taki M, Matsushita T, Higasa S, Sato T, Sakai M, Arai M, Uchikawa H, Engl W, Abbuehl B, Konkle B A. Correction to: Efficacy and safety of full-length pegylated recombinant factor VIII with extended half-life in previously treated patients with hemophilia A: comparison of data between the general and Japanese study populations. Int J Hematol 2018; 107(1): 123-124. <doi:10.1007/s12185-017-2369-z>

https://www.ncbi.nlm.nih.gov/pubmed/29149425

 

Nogami K, Takedani H, Shima M, Yoshioka A, Matsushita T, Takamatsu J, Taki M, Fukutake K, Uchikawa H, Takagi H, Arai M, Engl W, Shirahata A. Perioperative safety and hemostatic efficacy of Advate((R)) in patients with hemophilia A in a postmarketing surveillance in Japan. Int J Hematol 2018; 108(1): 22-29. <doi:10.1007/s12185-018-2434-2>

https://www.ncbi.nlm.nih.gov/pubmed/29594923

 

Osumi T, Tsujimoto S I, Nakabayashi K, Taniguchi M, Shirai R, Yoshida M, Uchiyama T, Nagasawa J, Goyama S, Yoshioka T, Tomizawa D, Kurokawa M, Matsubara Y, Kiyokawa N, Matsumoto K, Hata K, Kato M. Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality. Pediatr Blood Cancer 2018; 65(6): e26959. <doi:10.1002/pbc.26959>

https://www.ncbi.nlm.nih.gov/pubmed/29356389

 

Osumi T, Tsujimoto S I, Tamura M, Uchiyama M, Nakabayashi K, Okamura K, Yoshida M, Tomizawa D, Watanabe A, Takahashi H, Hori T, Yamamoto S, Hamamoto K, Migita M, Ogata-Kawata H, Uchiyama T, Kizawa H, Ueno-Yokohata H, Shirai R, Seki M, Ohki K, Takita J, Inukai T, Ogawa S, Kitamura T, Matsumoto K, Hata K, Kiyokawa N, Goyama S, Kato M. Recurrent RARB Translocations in Acute Promyelocytic Leukemia Lacking RARA Translocation. Cancer Res 2018; 78(16): 4452-4458. <doi:10.1158/0008-5472.CAN-18-0840>

https://www.ncbi.nlm.nih.gov/pubmed/29921692

 

Sekimizu M, Osumi T, Fukano R, Koga Y, Kada A, Saito A M, Mori T. A Phase I/II Study of Crizotinib for Recurrent or Refractory Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma and a Phase I Study of Crizotinib for Recurrent or Refractory Neuroblastoma : Study Protocol for a Multicenter Single-arm Open-label Trial. Acta Med Okayama 2018; 72(4): 431-436. <doi:10.18926/AMO/56184>

https://www.ncbi.nlm.nih.gov/pubmed/30140094

 

Shima H, Takamatsu-Ichihara E, Shino M, Yamagata K, Katsumoto T, Aikawa Y, Fujita S, Koseki H, Kitabayashi I. Ring1A and Ring1B inhibit expression of Glis2 to maintain murine MOZ-TIF2 AML stem cells. Blood 2018; 131(16): 1833-1845. <doi:10.1182/blood-2017-05-787226>

https://www.ncbi.nlm.nih.gov/pubmed/29371181

 

Shima H, Yamada Y, Asanuma H, Shimada H. High-dose chemotherapy without whole lung radiation for refractory pulmonary metastases in an infant with stage IV favorable histology Wilms tumor. Pediatr Blood Cancer 2018; 65(8): e27078. <doi:10.1002/pbc.27078>

https://www.ncbi.nlm.nih.gov/pubmed/29676506

 

Shimada A, Iijima-Yamashita Y, Tawa A, Tomizawa D, Yamada M, Norio S, Watanabe T, Taga T, Iwamoto S, Terui K, Moritake H, Kinoshita A, Takahashi H, Nakayama H, Koh K, Goto H, Kosaka Y, Saito A M, Kiyokawa N, Horibe K, Hara Y, Oki K, Hayashi Y, Tanaka S, Adachi S. Risk-stratified therapy for children with FLT3-ITD-positive acute myeloid leukemia: results from the JPLSG AML-05 study. Int J Hematol 2018; 107(5): 586-595. <doi:10.1007/s12185-017-2395-x>

https://www.ncbi.nlm.nih.gov/pubmed/29330746

 

Shimada H, Kada A, Shima H, Tono C, Yuza Y, Kurosawa H, Watanabe A, Ito M, Uryu H, Kamibeppu K, Kiyokawa N, Adachi S, M. Saito A, Tanizawa A. Rationale and Design of a Prospective, Multicentre, Stop Tyrosine Kinase Inhibitor Trial of Paediatric Patients with Chronic Myeloid Leukaemia with Sustained Complete Molecular Response (STKI-14). Hiroshima Journal of Medical Sciences 2018; 67(1): 7-13. <doi:10.24811/hjms.67.1_7>

 

Suttorp M, Metzler M, Millot F, Shimada H, Bansal D, Gunes A M, Kalwak K, Sedlacek P, Baruchel A, Biondi A, Hijiya N, Schultz K R, Schrappe M. Generic formulations of imatinib for treatment of Philadelphia chromosome-positive leukemia in pediatric patients. Pediatr Blood Cancer 2018; 65(12): e27431. <doi:10.1002/pbc.27431>

https://www.ncbi.nlm.nih.gov/pubmed/30160364

 

Takahashi H, Kajiwara R, Kato M, Hasegawa D, Tomizawa D, Noguchi Y, Koike K, Toyama D, Yabe H, Kajiwara M, Fujimura J, Sotomatsu M, Ota S, Maeda M, Goto H, Kato Y, Mori T, Inukai T, Shimada H, Fukushima K, Ogawa C, Makimoto A, Fukushima T, Ohki K, Koh K, Kiyokawa N, Manabe A, Ohara A. Treatment outcome of children with acute lymphoblastic leukemia: the Tokyo Children’s Cancer Study Group (TCCSG) Study L04-16. Int J Hematol 2018; 108(1): 98-108. <doi:10.1007/s12185-018-2440-4>

https://www.ncbi.nlm.nih.gov/pubmed/29589281

 

Tsujimoto S, Osumi T, Uchiyama M, Shirai R, Moriyama T, Nishii R, Yamada Y, Kudo K, Sekiguchi M, Arakawa Y, Yoshida M, Uchiyama T, Terui K, Ito S, Koh K, Takita J, Ito E, Tomizawa D, Manabe A, Kiyokawa N, Yang J J, Kato M. Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms. Leukemia 2018; 32(12): 2710-2714. <doi:10.1038/s41375-018-0190-1>

https://www.ncbi.nlm.nih.gov/pubmed/29967377

 

Tsujimoto S I, Nakano Y, Osumi T, Okada K, Ouchi-Uchiyama M, Kataoka K, Fujii Y, Ohki K, Seki M, Tamagawa N, Takita J, Ogawa S, Kiyokawa N, Hara J, Kato M. A Cryptic NUP214-ABL1 Fusion in B-cell Precursor Acute Lymphoblastic Leukemia. J Pediatr Hematol Oncol 2018; 40(6): e397-e399. <doi:10.1097/MPH.0000000000001007>

https://www.ncbi.nlm.nih.gov/pubmed/29219890

 

Ueno-Yokohata H, Okita H, Nakasato K, Hishiki T, Shirai R, Tsujimoto S, Osumi T, Yoshimura S, Yamada Y, Shioda Y, Kiyotani C, Terashima K, Miyazaki O, Matsumoto K, Kiyokawa N, Yoshioka T, Kato M. Preoperative diagnosis of clear cell sarcoma of the kidney by detection of BCOR internal tandem duplication in circulating tumor DNA. Genes Chromosomes Cancer 2018; 57(10): 525-529. <doi:10.1002/gcc.22648>

https://www.ncbi.nlm.nih.gov/pubmed/30126017

 

Watanabe K, Arakawa Y, Oguma E, Uehara T, Yanagi M, Oyama C, Ikeda Y, Sasaki K, Isobe K, Mori M, Hanada R, Koh K. Characteristics of methotrexate-induced stroke-like neurotoxicity. Int J Hematol 2018; 108(6): 630-636. <doi:10.1007/s12185-018-2525-0>

https://www.ncbi.nlm.nih.gov/pubmed/30182170

 

Wilson D B, Bessler M, Ferkol T W, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer 2018; 65(1). <doi:10.1002/pbc.26747>

https://www.ncbi.nlm.nih.gov/pubmed/28834235

 

Yamada M, Nguyen C, Fadakar P, Ganoza A, Humar A, Shapiro R, Michaels M G, Green M. Epidemiology and outcome of chronic high Epstein-Barr viral load carriage in pediatric kidney transplant recipients. Pediatr Transplant 2018; 22(3): e13147. <doi:10.1111/petr.13147>

https://www.ncbi.nlm.nih.gov/pubmed/29411474

 

Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H. Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation. J Pediatr Hematol Oncol 2018; 40(3): e195-e197. <doi:10.1097/MPH.0000000000000948>

https://www.ncbi.nlm.nih.gov/pubmed/28902083

 

Yoshida M, Osumi T, Imadome K I, Tomizawa D, Kato M, Miyazawa N, Ito R, Nakazawa A, Matsumoto K. Successful treatment of systemic EBV positive T-cell lymphoma of childhood using the SMILE regimen. Pediatr Hematol Oncol 2018; 35(2): 121-124. <doi:10.1080/08880018.2018.1459982>

https://www.ncbi.nlm.nih.gov/pubmed/29648917

 

<呼吸器疾患、アレルギー>

Arae K, Morita H, Unno H, Motomura K, Toyama S, Okada N, Ohno T, Tamari M, Orimo K, Mishima Y, Suto H, Okumura K, Sudo K, Miyazawa H, Taguchi H, Saito H, Matsumoto K, Nakae S. Chitin promotes antigen-specific Th2 cell-mediated murine asthma through induction of IL-33-mediated IL-1beta production by DCs. Sci Rep 2018; 8(1): 11721. <doi:10.1038/s41598-018-30259-2>

https://www.ncbi.nlm.nih.gov/pubmed/30082755

 

Funata K, Shike T, Takenouchi T, Yamashita Y, Takahashi T. Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut. Brain Dev 2018; 40(1): 74-76. <doi:10.1016/j.braindev.2017.06.009>

https://www.ncbi.nlm.nih.gov/pubmed/28734692

 

Hiraishi Y, Yamaguchi S, Yoshizaki T, Nambu A, Shimura E, Takamori A, Narushima S, Nakanishi W, Asada Y, Numata T, Suzukawa M, Yamauchi Y, Matsuda A, Arae K, Morita H, Hoshino T, Suto H, Okumura K, Matsumoto K, Saito H, Sudo K, Iikura M, Nagase T, Nakae S. IL-33, IL-25 and TSLP contribute to development of fungal-associated protease-induced innate-type airway inflammation. Sci Rep 2018; 8(1): 18052. <doi:10.1038/s41598-018-36440-x>

https://www.ncbi.nlm.nih.gov/pubmed/30575775

 

Morikawa Y, Miura M, Furuhata M Y, Morino S, Omori T, Otsuka M, Chiga M, Obonai T, Hataya H, Kaneko T, Ishikura K, Honda M, Hasegawa Y, Tokyo Pediatric Clinical Research N. Nebulized hypertonic saline in infants hospitalized with moderately severe bronchiolitis due to RSV infection: A multicenter randomized controlled trial. Pediatr Pulmonol 2018; 53(3): 358-365. <doi:10.1002/ppul.23945>

https://www.ncbi.nlm.nih.gov/pubmed/29327810

 

Okubo Y, Michihata N, Morisaki N, Uda K, Miyairi I, Ogawa Y, Matsui H, Fushimi K, Yasunaga H. Recent trends in practice patterns and impact of corticosteroid use on pediatric Mycoplasma pneumoniae-related respiratory infections. Respir Investig 2018; 56(2): 158-165. <doi:10.1016/j.resinv.2017.11.005>

https://www.ncbi.nlm.nih.gov/pubmed/29548654

 

Okubo Y, Michihata N, Uda K, Morisaki N, Miyairi I, Matsui H, Fushimi K, Yasunaga H. Dose-response relationship between weight status and clinical outcomes in pediatric influenza-related respiratory infections. Pediatr Pulmonol 2018; 53(2): 218-223. <doi:10.1002/ppul.23927>

https://www.ncbi.nlm.nih.gov/pubmed/29265591

 

Saima T, Sato M, Miyake Y, Matsui H. Unknown mass on chest radiography: Morgagni hernia identified on ultrasonography. Pediatr Int 2018; 60(9): 904-905. <doi:10.1111/ped.13644>

https://www.ncbi.nlm.nih.gov/pubmed/30255978

 

Sakai J, Maeda T, Tarumoto N, Misawa K, Tamura S, Imai K, Yamaguchi T, Iwata S, Murakami T, Maesaki S. Corrigendum to “A novel detection procedure for mutations in the 23S rRNA gene of Mycoplasma pneumoniae with peptide nucleic acid-mediated loop-mediated isothermal amplification assay” [J. Microbiol. Methods 141 (2017) 90-96]. J Microbiol Methods 2018; 144192. <doi:10.1016/j.mimet.2017.11.004>

https://www.ncbi.nlm.nih.gov/pubmed/29137804

 

Sugita K, Steer C A, Martinez-Gonzalez I, Altunbulakli C, Morita H, Castro-Giner F, Kubo T, Wawrzyniak P, Ruckert B, Sudo K, Nakae S, Matsumoto K, O’mahony L, Akdis M, Takei F, Akdis C A. Type 2 innate lymphoid cells disrupt bronchial epithelial barrier integrity by targeting tight junctions through IL-13 in asthmatic patients. J Allergy Clin Immunol 2018; 141(1): 300-310 e311. <doi:10.1016/j.jaci.2017.02.038>

https://www.ncbi.nlm.nih.gov/pubmed/28392332

 

Suto H, Nambu A, Morita H, Yamaguchi S, Numata T, Yoshizaki T, Shimura E, Arae K, Asada Y, Motomura K, Kaneko M, Abe T, Matsuda A, Iwakura Y, Okumura K, Saito H, Matsumoto K, Sudo K, Nakae S. IL-25 enhances TH17 cell-mediated contact dermatitis by promoting IL-1beta production by dermal dendritic cells. J Allergy Clin Immunol 2018; 142(5): 1500-1509 e1510. <doi:10.1016/j.jaci.2017.12.1007>

https://www.ncbi.nlm.nih.gov/pubmed/29522843

 

Takeda T, Morita H, Saito H, Matsumoto K, Matsuda A. Recent advances in understanding the roles of blood platelets in the pathogenesis of allergic inflammation and bronchial asthma. Allergol Int 2018; 67(3): 326-333. <doi:10.1016/j.alit.2017.11.008>

https://www.ncbi.nlm.nih.gov/pubmed/29242144

 

Tamari M, Orimo K, Motomura K, Arae K, Matsuda A, Nakae S, Saito H, Morita H, Matsumoto K. The optimal age for epicutaneous sensitization following tape-stripping in BALB/c mice. Allergol Int 2018; 67(3): 380-387. <doi:10.1016/j.alit.2018.01.003>

https://www.ncbi.nlm.nih.gov/pubmed/29439856

 

Uda K, Koyama-Wakai C, Shoji K, Iwase N, Motooka D, Nakamura S, Miyairi I. WU polyomavirus detected in children with severe respiratory failure. J Clin Virol 2018; 10725-28. <doi:10.1016/j.jcv.2018.08.003>

https://www.ncbi.nlm.nih.gov/pubmed/30114678

 

Uda K, Matsushima T, Horikoshi Y, Hataya H. Hamman’s Sign in a Patient with Spontaneous Pneumomediastinum. J Pediatr 2018; 202324. <doi:10.1016/j.jpeds.2018.06.030>

https://www.ncbi.nlm.nih.gov/pubmed/30017338

 

Uda K, Okubo Y, Shoji K, Miyairi I, Morisaki N, Michihata N, Matsui H, Fushimi K, Yasunaga H. Trends of neuraminidase inhibitors use in children with influenza related respiratory infections. Pediatr Pulmonol 2018; 53(6): 802-808. <doi:10.1002/ppul.24021>

https://www.ncbi.nlm.nih.gov/pubmed/29673121

 

Watanabe T, Ohno M, Tahara K, Tomonaga K, Fuchimoto Y, Fujino A, Hishiki T, Tsukamoto K, Ito Y, Sugibayashi R, Wada S, Sago H, Higuchi M, Kawasaki K, Yoshioka T, Kanamori Y. An investigation on clinical differences between congenital pulmonary airway malformation and bronchial atresia. J Pediatr Surg 2018; 53(12): 2390-2393. <doi:10.1016/j.jpedsurg.2018.08.031>

https://www.ncbi.nlm.nih.gov/pubmed/30227995

 

Yasui Y, Mitsui T, Nishimura T, Uchida K, Inokuchi M, Mori M, Tokumura M, Nakayama T. School-age children and adolescents suspected of having been to be infected with pertussis in Japan. Vaccine 2018; 36(20): 2910-2915. <doi:10.1016/j.vaccine.2018.01.048>

https://www.ncbi.nlm.nih.gov/pubmed/29609967

 

Yoshii S, Uda K, Miyairi I, Nakao H, Kono N, Kubota M, Ishiguro A. Multiple Bullae Associated with Human Parvovirus B19. J Pediatr 2018; 202327-327 e321. <doi:10.1016/j.jpeds.2018.05.038>

https://www.ncbi.nlm.nih.gov/pubmed/29937083

 

<循環器疾患>

Aizawa Y, Fujisawa T, Katsumata Y, Kohsaka S, Kunitomi A, Ohno S, Sonoda K, Hayashi H, Hojo R, Fukamizu S, Nagase S, Ito S, Nakajima K, Nishiyama T, Kimura T, Kurita Y, Furukawa Y, Takatsuki S, Ogawa S, Nakazato Y, Sumiyoshi M, Kosaki K, Horie M, Fukuda K. Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome. J Am Heart Assoc 2018; 7(18): e009387. <doi:10.1161/JAHA.118.009387>

https://www.ncbi.nlm.nih.gov/pubmed/30371189

 

Fujita H, Matsuoka S, Awazu M. Masked Isolated Nocturnal Hypertension in Children and Young Adults. Pediatr Cardiol 2018; 39(1): 66-70. <doi:10.1007/s00246-017-1728-0>

https://www.ncbi.nlm.nih.gov/pubmed/28948314

 

Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Kanekura K, Satoh T, Fukuda K, Gamou S, Kosaki K. SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. Am J Respir Crit Care Med 2018; 198(9): 1231-1233. <doi:10.1164/rccm.201804-0766LE>

https://www.ncbi.nlm.nih.gov/pubmed/30044643

 

Miura M, Kobayashi T, Kaneko T, Ayusawa M, Fukazawa R, Fukushima N, Fuse S, Hamaoka K, Hirono K, Kato T, Mitani Y, Sato S, Shimoyama S, Shiono J, Suda K, Suzuki H, Maeda J, Waki K, The Z S P N S S G, Kato H, Saji T, Yamagishi H, Ozeki A, Tomotsune M, Yoshida M, Akazawa Y, Aso K, Doi S, Fukasawa Y, Furuno K, Hayabuchi Y, Hayashi M, Honda T, Horita N, Ikeda K, Ishii M, Iwashima S, Kamada M, Kaneko M, Katyama H, Kawamura Y, Kitagawa A, Komori A, Kuraishi K, Masuda H, Matsuda S, Matsuzaki S, Mii S, Miyamoto T, Moritou Y, Motoki N, Nagumo K, Nakamura T, Nishihara E, Nomura Y, Ogata S, Ohashi H, Okumura K, Omori D, Sano T, Suganuma E, Takahashi T, Takatsuki S, Takeda A, Terai M, Toyono M, Watanabe K, Watanabe M, Yamamoto M, Yamamura K. Association of Severity of Coronary Artery Aneurysms in Patients With Kawasaki Disease and Risk of Later Coronary Events. JAMA Pediatr 2018; 172(5): e180030. <doi:10.1001/jamapediatrics.2018.0030>

https://www.ncbi.nlm.nih.gov/pubmed/29507955

 

Miyata K, Kaneko T, Morikawa Y, Sakakibara H, Matsushima T, Misawa M, Takahashi T, Nakazawa M, Tamame T, Tsuchihashi T, Yamashita Y, Obonai T, Chiga M, Hori N, Komiyama O, Yamagishi H, Miura M, Post R G. Efficacy and safety of intravenous immunoglobulin plus prednisolone therapy in patients with Kawasaki disease (Post RAISE): a multicentre, prospective cohort study. Lancet Child Adolesc Health 2018; 2(12): 855-862. <doi:10.1016/S2352-4642(18)30293-1>

https://www.ncbi.nlm.nih.gov/pubmed/30337183

 

Otani T, Morikawa Y, Hayakawa I, Atsumi Y, Tomari K, Tomobe Y, Uda K, Funakoshi Y, Sakaguchi C, Nishimoto S, Hataya H. Ultrasound-guided peripheral intravenous access placement for children in the emergency department. Eur J Pediatr 2018; 177(10): 1443-1449. <doi:10.1007/s00431-018-3201-3>

https://www.ncbi.nlm.nih.gov/pubmed/29961178

 

Sato Y, Aizawa Y, Fujisawa T, Ito S, Katano K, Fuse N, Miyabe A, Osada K, Ishihara R, Tosaka A, Tamamura T, Mizumura T, Sugimura Y, Nakajima K, Katsumata Y, Nishiyama T, Kimura T, Furukawa Y, Takatsuki S, Kosaki K, Fukuda K. Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome. J Arrhythm 2018; 34(4): 465-468. <doi:10.1002/joa3.12068>

https://www.ncbi.nlm.nih.gov/pubmed/30167021

 

Suzuki H, Kataoka M, Hiraide T, Aimi Y, Yamada Y, Katsumata Y, Chiba T, Kanekura K, Isobe S, Sato Y, Satoh T, Gamou S, Fukuda K, Kosaki K. Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension. Circ Genom Precis Med 2018; 11(12): e002317. <doi:10.1161/CIRCGEN.118.002317>

https://www.ncbi.nlm.nih.gov/pubmed/30562119

 

Terada M, Yoshimura Y, Yamamoto Y, Hirano A, Miyata K, Fukushima N, Oki H, Miura M. [Primary Pulmonary Vein Stenosis Developed after Bidirectional Glenn Procedure;Report of Two Cases]. Kyobu Geka 2018; 71(3): 190-194

https://www.ncbi.nlm.nih.gov/pubmed/29755072

 

Yasuhara J, Omori S, Maeda J, Nakagawa N, Kamada M, Kosaki K, Aeba R, Yamagishi H. Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism. Can J Cardiol 2018; 34(5): 690 e695-690 e698. <doi:10.1016/j.cjca.2018.02.008>

https://www.ncbi.nlm.nih.gov/pubmed/29731032

 

<新生児疾患>

Arimitsu T, Minagawa Y, Yagihashi T, M O U, Matsuzaki A, Ikeda K, Takahashi T. The cerebral hemodynamic response to phonetic changes of speech in preterm and term infants: The impact of postmenstrual age. Neuroimage Clin 2018; 19599-606. <doi:10.1016/j.nicl.2018.05.005>

https://www.ncbi.nlm.nih.gov/pubmed/29984167

 

Inamura N, Sato M. Neonatal renovascular hypertension. Pediatr Int 2018; 60(5): 501. <doi:10.1111/ped.13549>

https://www.ncbi.nlm.nih.gov/pubmed/29878627

 

Liang Z, Minagawa Y, Yang H C, Tian H, Cheng L, Arimitsu T, Takahashi T, Tong Y. Symbolic time series analysis of fNIRS signals in brain development assessment. J Neural Eng 2018; 15(6): 066013. <doi:10.1088/1741-2552/aae0c9>

https://www.ncbi.nlm.nih.gov/pubmed/30207540

 

Uchida M O, Arimitsu T, Yatabe K, Ikeda K, Takahashi T, Minagawa Y. Effect of mother’s voice on neonatal respiratory activity and EEG delta amplitude. Dev Psychobiol 2018; 60(2): 140-149. <doi:10.1002/dev.21596>

https://www.ncbi.nlm.nih.gov/pubmed/29205320

 

<神経・筋疾患、心身症>

Ehara Y, Yamamoto O, Kosaki K, Yoshida Y. Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1. J Dermatol 2018; 45(1): 53-57. <doi:10.1111/1346-8138.14025>

https://www.ncbi.nlm.nih.gov/pubmed/28891076

 

Funata K, Shike T, Takenouchi T, Yamashita Y, Takahashi T. Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut. Brain Dev 2018; 40(1): 74-76. <doi:10.1016/j.braindev.2017.06.009>

https://www.ncbi.nlm.nih.gov/pubmed/28734692

 

Harigai R, Sakai S, Nobusue H, Hirose C, Sampetrean O, Minami N, Hata Y, Kasama T, Hirose T, Takenouchi T, Kosaki K, Kishi K, Saya H, Arima Y. Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells. Sci Rep 2018; 8(1): 6069. <doi:10.1038/s41598-018-24484-y>

https://www.ncbi.nlm.nih.gov/pubmed/29666462

 

Ikeda A, Tsuji M, Goto T, Iai M. Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan. Brain Dev 2018; 40(7): 558-565. <doi:10.1016/j.braindev.2018.03.006>

https://www.ncbi.nlm.nih.gov/pubmed/29636207

 

Ikeda A, Yamashita S, Tsuyusaki Y, Tanaka M, Tanaka Y, Hashiguchi A, Takashima H, Goto T. Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. Brain Dev 2018; 40(2): 155-158. <doi:10.1016/j.braindev.2017.08.004>

https://www.ncbi.nlm.nih.gov/pubmed/28899595

 

Kouga T, Takagi M, Miyauchi A, Shimbo H, Iai M, Yamashita S, Murayama K, Klein M B, Miller G, Goto T, Osaka H. Japanese Leigh syndrome case treated with EPI-743. Brain Dev 2018; 40(2): 145-149. <doi:10.1016/j.braindev.2017.08.005>

https://www.ncbi.nlm.nih.gov/pubmed/28916229

 

Liang Z, Minagawa Y, Yang H C, Tian H, Cheng L, Arimitsu T, Takahashi T, Tong Y. Symbolic time series analysis of fNIRS signals in brain development assessment. J Neural Eng 2018; 15(6): 066013. <doi:10.1088/1741-2552/aae0c9>

https://www.ncbi.nlm.nih.gov/pubmed/30207540

 

Ohnishi T, Mishima Y, Shinozuka S, Shikoro N, Kamimaki I. Apnea and delirious behavior caused by mild encephalitis/encephalopathy with reversible splenial lesion complicated with rotavirus infection. Pediatr Int 2018; 60(6): 602-604. <doi:10.1111/ped.13582>

https://www.ncbi.nlm.nih.gov/pubmed/29924480

 

Sakaguchi Y, Uehara T, Suzuki H, Sakamoto Y, Fujiwara M, Kosaki K, Takenouchi T. Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis. Am J Med Genet A 2018; 176(11): 2466-2469. <doi:10.1002/ajmg.a.40354>

https://www.ncbi.nlm.nih.gov/pubmed/30289594

 

Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1. Am J Med Genet A 2018; 176(2): 431-437. <doi:10.1002/ajmg.a.38543>

https://www.ncbi.nlm.nih.gov/pubmed/29168298

 

Takenouchi T, Sakamoto Y, Sato H, Suzuki H, Uehara T, Ohsone Y, Kosaki K. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution. Am J Med Genet A 2018; 176(12): 2777-2780. <doi:10.1002/ajmg.a.40525>

https://www.ncbi.nlm.nih.gov/pubmed/30450715

 

Takenouchi T, Uehara T, Kosaki K, Mizuno S. Growth pattern of Rahman syndrome. Am J Med Genet A 2018; 176(3): 712-714. <doi:10.1002/ajmg.a.38616>

https://www.ncbi.nlm.nih.gov/pubmed/29383847

 

Yagihashi T, Nagasawa T, Kasahara M, Hosogane N. CHARACTERISTICS OF HALLUCINATIONS ARISING FROM SCHIZOPHRENIA AND OTHER PSYCHIATRIC DISORDERS DURING CHILDHOOD AND ADOLESCENCE. 児童青年精神医学とその近接領域 2018; 59(3): 333-341. <doi:10.20615/jscap.59.3_333>

 

Yoshida Y, Ehara Y, Kosaki K, Yamamoto O. Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1. J Dermatol 2018; 45(3): 363-364. <doi:10.1111/1346-8138.14187>

https://www.ncbi.nlm.nih.gov/pubmed/29498099

 

Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. Brain Dev 2018; 40(4): 343-347. <doi:10.1016/j.braindev.2017.12.001>

https://www.ncbi.nlm.nih.gov/pubmed/29273277

 

<腎・泌尿器疾患、生殖器疾患>

Fujita H, Matsuoka S, Awazu M. Masked Isolated Nocturnal Hypertension in Children and Young Adults. Pediatr Cardiol 2018; 39(1): 66-70. <doi:10.1007/s00246-017-1728-0>

https://www.ncbi.nlm.nih.gov/pubmed/28948314

 

Fujita H, Matsuoka S, Awazu M. Visit-to-visit blood pressure variability in children and adolescents with renal disease. Clin Exp Nephrol 2018; 22(5): 1150-1156. <doi:10.1007/s10157-018-1557-3>

https://www.ncbi.nlm.nih.gov/pubmed/29536392

 

Gotoh Y, Uemura O, Ishikura K, Sakai T, Hamasaki Y, Araki Y, Hamada R, Honda M, Pediatric C K D S G I J I C W T C O M F P C K D O T J S O P N. Correction to: Validation of estimated glomerular filtration rate equations for Japanese children. Clin Exp Nephrol 2018; 22(6): 1477. <doi:10.1007/s10157-018-1623-x>

https://www.ncbi.nlm.nih.gov/pubmed/30143903

 

Hamasaki Y, Muramatsu M, Hamada R, Ishikura K, Hataya H, Satou H, Honda M, Nakanishi K, Shishido S. Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan. Clin Exp Nephrol 2018; 22(3): 719-726. <doi:10.1007/s10157-017-1508-4>

https://www.ncbi.nlm.nih.gov/pubmed/29185126

 

Harada R, Ishikura K, Shinozuka S, Mikami N, Hamada R, Hataya H, Morikawa Y, Omori T, Takahashi H, Hamasaki Y, Kaneko T, Iijima K, Honda M. Ensuring safe drug administration to pediatric patients with renal dysfunction: a multicenter study. Clin Exp Nephrol 2018; 22(4): 938-946. <doi:10.1007/s10157-018-1537-7>

https://www.ncbi.nlm.nih.gov/pubmed/29411162

 

Hataya H. Current State of Peritoneal Dialysis in Children. Contrib Nephrol 2018; 196129-134. <doi:10.1159/000485712>

https://www.ncbi.nlm.nih.gov/pubmed/30041217

 

Iio K, Nomura O, Kinumaki A, Aoki Y, Satoh H, Sakakibara H, Hataya H. Testicular Torsion in an Infant with Undescended Testis. J Pediatr 2018; 197312-312 e311. <doi:10.1016/j.jpeds.2018.01.015>

https://www.ncbi.nlm.nih.gov/pubmed/29429568

 

Jia X, Horinouchi T, Hitomi Y, Shono A, Khor S S, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K, Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome In J. Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population. J Am Soc Nephrol 2018; 29(8): 2189-2199. <doi:10.1681/ASN.2017080859>

https://www.ncbi.nlm.nih.gov/pubmed/30012571

 

Kamei K, Miyairi I, Ishikura K, Ogura M, Shoji K, Funaki T, Ito R, Arai K, Abe J, Kawai T, Onodera M, Ito S. Prospective Study of Live Attenuated Vaccines for Patients with Nephrotic Syndrome Receiving Immunosuppressive Agents. J Pediatr 2018; 196217-222 e211. <doi:10.1016/j.jpeds.2017.12.061>

https://www.ncbi.nlm.nih.gov/pubmed/29499990

 

Kamei K, Ogura M, Sato M, Ito S, Ishikura K. Infusion reactions associated with rituximab treatment for childhood-onset complicated nephrotic syndrome. Pediatr Nephrol 2018; 33(6): 1013-1018. <doi:10.1007/s00467-018-3900-z>

https://www.ncbi.nlm.nih.gov/pubmed/29426974

 

Kanda T, Takeda A, Hirose H, Abe T, Urai H, Inokuchi M, Wakino S, Tokumura M, Itoh H, Kawabe H. Temporal trends in renal function and birthweight in Japanese adolescent males (1998-2015). Nephrol Dial Transplant 2018; 33(2): 304-310. <doi:10.1093/ndt/gfw428>

https://www.ncbi.nlm.nih.gov/pubmed/28339560

 

Kawaguchi T, Yoshida T, Hirahashi J, Uehara T, Takenouchi T, Kosaki K, Itoh H, Hayashi M. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. Nephron 2018; 140(1): 74-78. <doi:10.1159/000490770>

https://www.ncbi.nlm.nih.gov/pubmed/29991045

 

Kubota W, Honda M, Okada H, Hattori M, Iwano M, Akioka Y, Ashida A, Kawasaki Y, Kiyomoto H, Sako M, Terada Y, Hirano D, Fujieda M, Fujimoto S, Masaki T, Ito S, Uemura O, Gotoh Y, Komatsu Y, Nishi S, Maru M, Narita I, Maruyama S. A consensus statement on health-care transition of patients with childhood-onset chronic kidney diseases: providing adequate medical care in adolescence and young adulthood. Clin Exp Nephrol 2018; 22(4): 743-751. <doi:10.1007/s10157-018-1589-8>

https://www.ncbi.nlm.nih.gov/pubmed/29869191

 

Matsumura K, Sugii K, Awazu M. Trajectory of Estimated Glomerular Filtration Rate Predicts Renal Injury in Children with Multicystic Dysplastic Kidney. Nephron 2018; 140(1): 18-23. <doi:10.1159/000490200>

https://www.ncbi.nlm.nih.gov/pubmed/29879710

 

Morikawa Y, Miura M, Furuhata M Y, Morino S, Omori T, Otsuka M, Chiga M, Obonai T, Hataya H, Kaneko T, Ishikura K, Honda M, Hasegawa Y, Tokyo Pediatric Clinical Research N. Nebulized hypertonic saline in infants hospitalized with moderately severe bronchiolitis due to RSV infection: A multicenter randomized controlled trial. Pediatr Pulmonol 2018; 53(3): 358-365. <doi:10.1002/ppul.23945>

https://www.ncbi.nlm.nih.gov/pubmed/29327810

 

Otani T, Morikawa Y, Hayakawa I, Atsumi Y, Tomari K, Tomobe Y, Uda K, Funakoshi Y, Sakaguchi C, Nishimoto S, Hataya H. Ultrasound-guided peripheral intravenous access placement for children in the emergency department. Eur J Pediatr 2018; 177(10): 1443-1449. <doi:10.1007/s00431-018-3201-3>

https://www.ncbi.nlm.nih.gov/pubmed/29961178

 

Ploos Van Amstel S, Noordzij M, Warady B A, Cano F, Craig J C, Groothoff J W, Ishikura K, Neu A, Safouh H, Xu H, Jager K J, Schaefer F. Renal replacement therapy for children throughout the world: the need for a global registry. Pediatr Nephrol 2018; 33(5): 863-871. <doi:10.1007/s00467-017-3863-5>

https://www.ncbi.nlm.nih.gov/pubmed/29273970

 

Sato M, Kamei K, Ogura M, Ishikura K, Ito S. Relapse of nephrotic syndrome during post-rituximab peripheral blood B-lymphocyte depletion. Clin Exp Nephrol 2018; 22(1): 110-116. <doi:10.1007/s10157-017-1415-8>

https://www.ncbi.nlm.nih.gov/pubmed/28434126

 

Sekiya N, Awazu M. A case of nephrogenic syndrome of inappropriate antidiuresis caused by carbamazepine. CEN Case Rep 2018; 7(1): 66-68. <doi:10.1007/s13730-017-0295-9>

https://www.ncbi.nlm.nih.gov/pubmed/29282644

 

Shima Y, Nakanishi K, Kaku Y, Ishikura K, Hataya H, Matsuyama T, Honda M, Sako M, Nozu K, Tanaka R, Iijima K, Yoshikawa N, Japanese Pediatric Ig A N T S G. Combination therapy with or without warfarin and dipyridamole for severe childhood IgA nephropathy: an RCT. Pediatr Nephrol 2018; 33(11): 2103-2112. <doi:10.1007/s00467-018-4011-6>

https://www.ncbi.nlm.nih.gov/pubmed/29987456

 

Terano C, Ishikura K, Hamada R, Yoshida Y, Kubota W, Okuda Y, Shinozuka S, Harada R, Iyoda S, Fujimura Y, Hamasaki Y, Hataya H, Honda M. Practical issues in using eculizumab for children with atypical haemolytic uraemic syndrome in the acute phase: A review of four patients. Nephrology (Carlton) 2018; 23(6): 539-545. <doi:10.1111/nep.13054>

https://www.ncbi.nlm.nih.gov/pubmed/28387984

 

Uda K, Matsushima T, Horikoshi Y, Hataya H. Hamman’s Sign in a Patient with Spontaneous Pneumomediastinum. J Pediatr 2018; 202324. <doi:10.1016/j.jpeds.2018.06.030>

https://www.ncbi.nlm.nih.gov/pubmed/30017338

 

Uemura O, Ishikura K, Gotoh Y, Honda M. Creatinine-based estimated glomerular filtration rate for children younger than 2 years. Clin Exp Nephrol 2018; 22(2): 483-484. <doi:10.1007/s10157-017-1460-3>

https://www.ncbi.nlm.nih.gov/pubmed/28894940

 

Unzaki A, Morisada N, Nozu K, Ye M J, Ito S, Matsunaga T, Ishikura K, Ina S, Nagatani K, Okamoto T, Inaba Y, Ito N, Igarashi T, Kanda S, Ito K, Omune K, Iwaki T, Ueno K, Yahata M, Ohtsuka Y, Nishi E, Takahashi N, Ishikawa T, Goto S, Okamoto N, Iijima K. Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. J Hum Genet 2018; 63(5): 647-656. <doi:10.1038/s10038-018-0429-8>

https://www.ncbi.nlm.nih.gov/pubmed/29500469

 

<先天代謝異常、内分泌疾患>

Fukuma M, Takagi M, Shimazu T, Imamura H, Yagi H, Nishimura G, Hasegawa T. A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. Clin Pediatr Endocrinol 2018; 27(3): 193-196. <doi:10.1297/cpe.27.193>

https://www.ncbi.nlm.nih.gov/pubmed/30083037

 

Hara K, Ikeda K, Koyama Y, Wada Y, Hasegawa T. Serum 25-hydroxyvitamin D3 levels of one-month-old term infants in Tokyo using liquid chromatography tandem mass spectrometry. Acta Paediatr 2018; 107(3): 532-533. <doi:10.1111/apa.14155>

https://www.ncbi.nlm.nih.gov/pubmed/29168212

 

Hara K, Ikeda K, Koyama Y, Wada Y, Hasegawa T. Comparison of serum 25-hydroxyvitamin D levels between radioimmunoassay and liquid chromatography-tandem mass spectrometry in infants and postpartum women. J Pediatr Endocrinol Metab 2018; 31(10): 1105-1111. <doi:10.1515/jpem-2018-0275>

https://www.ncbi.nlm.nih.gov/pubmed/30231011

 

Higuchi S, Takagi M, Takeda R, Yoshihashi H, Narumi S, Hasegawa T. An association with hypopituitarism and 9q subtelomere deletion syndrome. Clin Case Rep 2018; 6(12): 2371-2375. <doi:10.1002/ccr3.1591>

https://www.ncbi.nlm.nih.gov/pubmed/30564331

 

Ichihashi Y, Takagi M, Ishii T, Watanabe K, Nishimura G, Hasegawa T. Two novel mutations of COMP in Japanese boys with pseudoachondroplasia. Hum Genome Var 2018; 512. <doi:10.1038/s41439-018-0012-z>

https://www.ncbi.nlm.nih.gov/pubmed/29899997

 

Igaki J, Nishi A, Sato T, Hasegawa T. A pediatric case of pheochromocytoma without apparent hypertension associated with von Hippel-Lindau disease. Clin Pediatr Endocrinol 2018; 27(2): 87-93. <doi:10.1297/cpe.27.87>

https://www.ncbi.nlm.nih.gov/pubmed/29662268

 

Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, Kasuga Y, Ochiai D, Matsumoto T, Ichihashi Y, Matsuzaki Y, Tachikawa K, Michigami T, Nishimura G, Ikeda K, Hasegawa T, Tanaka M. Discordant fetal phenotype of hypophosphatasia in two siblings. Am J Med Genet A 2018; 176(1): 171-174. <doi:10.1002/ajmg.a.38531>

https://www.ncbi.nlm.nih.gov/pubmed/29160033

 

Inokuchi M, Matsuo N, J I T, Hasegawa T. Prevalence of central fatness in 1992-1994: 40% of Japanese boys 6-17 years. Endocr J 2018; 65(2): 213-220. <doi:10.1507/endocrj.EJ17-0357>

https://www.ncbi.nlm.nih.gov/pubmed/29225206

 

Inokuchi M, Matsuo N, Takayama J I, Hasegawa T. WHO 2006 Child Growth Standards overestimate short stature and underestimate overweight in Japanese children. J Pediatr Endocrinol Metab 2018; 31(1): 33-38. <doi:10.1515/jpem-2017-0303>

https://www.ncbi.nlm.nih.gov/pubmed/29267170

 

Ishii T, Adachi M, Takasawa K, Okada S, Kamasaki H, Kubota T, Kobayashi H, Sawada H, Nagasaki K, Numakura C, Harada S, Minamitani K, Sugihara S, Tajima T. Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan. Horm Res Paediatr 2018; 89(3): 166-171. <doi:10.1159/000486393>

https://www.ncbi.nlm.nih.gov/pubmed/29455197

 

Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H. Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series. J Clin Med 2018; 7(12). <doi:10.3390/jcm7120479>

https://www.ncbi.nlm.nih.gov/pubmed/30477250

 

Kusano C, Hori N, Izawa K, Kosaki R, Nishimura G, Hasegawa T. Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report. Oral Science International 2018; 15(2): 90-92. <doi:10.1016/s1348-8643(18)30008-9>

https://dx.doi.org/10.1016/s1348-8643(18)30008-9

 

Nakano S, Sato T, Hosokawa M, Takagi C, Yoshida F, Ishii T, Sato S, Hasegawa T. A pediatric case of insulinoma and a novel MEN1 mutation: the efficacy of the combination therapy of diazoxide and cornstarch. Clin Pediatr Endocrinol 2018; 27(3): 197-199. <doi:10.1297/cpe.27.197>

https://www.ncbi.nlm.nih.gov/pubmed/30083038

 

Narumi S, Matsubara K, Ishii T, Hasegawa T. Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature. Clin Pediatr Endocrinol 2018; 27(4): 235-238. <doi:10.1297/cpe.27.235>

https://www.ncbi.nlm.nih.gov/pubmed/30393440

 

Ono H, Numakura C, Homma K, Hasegawa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T. Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency. J Steroid Biochem Mol Biol 2018; 178177-184. <doi:10.1016/j.jsbmb.2017.12.008>

https://www.ncbi.nlm.nih.gov/pubmed/29289577

 

Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS One 2018; 13(11): e0206184. <doi:10.1371/journal.pone.0206184>

https://www.ncbi.nlm.nih.gov/pubmed/30403727

 

Shinohara H, Takagi M, Ito K, Shimizu E, Fukuzawa R, Hasegawa T. A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8. Thyroid 2018; 28(8): 1071-1073. <doi:10.1089/thy.2017.0481>

https://www.ncbi.nlm.nih.gov/pubmed/29882472

 

Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol 2018; 27(3): 123-130. <doi:10.1297/cpe.27.123>

https://www.ncbi.nlm.nih.gov/pubmed/30083029

 

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet 2018; 63(12): 1277-1281. <doi:10.1038/s10038-018-0513-0>

https://www.ncbi.nlm.nih.gov/pubmed/30228365

 

Takeuchi T, Yoto Y, Ishii A, Tsugawa T, Yamamoto M, Hori T, Kamasaki H, Nogami K, Oda T, Nui A, Kimura S, Yamagishi T, Homma K, Hasegawa T, Fukami M, Watanabe Y, Sasamoto H, Tsutsumi H. Adrenocortical carcinoma characterized by gynecomastia: A case report. Clin Pediatr Endocrinol 2018; 27(1): 9-18. <doi:10.1297/cpe.27.9>

https://www.ncbi.nlm.nih.gov/pubmed/29403152

 

Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations. Horm Res Paediatr 2018; 90(2): 132-137. <doi:10.1159/000491104>

https://www.ncbi.nlm.nih.gov/pubmed/30110704

 

Wilson D B, Bessler M, Ferkol T W, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer 2018; 65(1). <doi:10.1002/pbc.26747>

https://www.ncbi.nlm.nih.gov/pubmed/28834235

 

Yokoya S, Hasegawa T, Ozono K, Tanaka H, Kanzaki S, Tanaka T, Chihara K, Jia N, Child C J, Ihara K, Funai J, Iwamoto N, Seino Y. Responses to the Letter to the Editor “Does growth-hormone treatment affect patients with and without a mitochondrial disorder differentially ?” (Vol. 27, No. 2, p. 107-108, 2018). Clin Pediatr Endocrinol 2018; 27(3): 201-202. <doi:10.1297/cpe.27.201>

https://www.ncbi.nlm.nih.gov/pubmed/30083039

 

<免疫異常、膠原病、リウマチ性疾患、感染症>

Adachi Y, Ando M, Morozumi M, Ubukata K, Iwata S. Genotypic characterization of Haemophilus influenzae isolates from paediatric patients in Japan. J Med Microbiol 2018; 67(5): 695-701. <doi:10.1099/jmm.0.000721>

https://www.ncbi.nlm.nih.gov/pubmed/29595417

 

Ando M, Morozumi M, Adachi Y, Ubukata K, Iwata S. Multilocus Sequence Typing of Mycoplasma pneumoniae, Japan, 2002-2016. Emerg Infect Dis 2018; 24(10): 1895-1901. <doi:10.3201/eid2410.171194>

https://www.ncbi.nlm.nih.gov/pubmed/30226158

 

Aoki K, Harada S, Yahara K, Ishii Y, Motooka D, Nakamura S, Akeda Y, Iida T, Tomono K, Iwata S, Moriya K, Tateda K. Molecular Characterization of IMP-1-Producing Enterobacter cloacae Complex Isolates in Tokyo. Antimicrob Agents Chemother 2018; 62(3). <doi:10.1128/AAC.02091-17>

https://www.ncbi.nlm.nih.gov/pubmed/29311089

 

Funaki T, Miyairi I. Breakthrough Candidemia In Children On Micafungin. Pediatr Infect Dis J 2018; 37(12): 1258-1260. <doi:10.1097/INF.0000000000002020>

https://www.ncbi.nlm.nih.gov/pubmed/29570179

 

Furuichi M, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Characteristics and Risk Factors of Late-onset Bloodstream Infection Beyond 6 Months After Liver Transplantation in Children. Pediatr Infect Dis J 2018; 37(3): 263-268. <doi:10.1097/INF.0000000000001754>

https://www.ncbi.nlm.nih.gov/pubmed/28859015

 

Furuichi M, Furuichi M, Horikoshi Y, Miyairi I. Infectious Diseases Consultation Improves Treatment and Decreases Mortality by Enterococcal Bacteremia in Children. Pediatr Infect Dis J 2018; 37(9): 856-860. <doi:10.1097/INF.0000000000001919>

https://www.ncbi.nlm.nih.gov/pubmed/29384980

 

Hayden F G, Sugaya N, Hirotsu N, Lee N, De Jong M D, Hurt A C, Ishida T, Sekino H, Yamada K, Portsmouth S, Kawaguchi K, Shishido T, Arai M, Tsuchiya K, Uehara T, Watanabe A, Baloxavir Marboxil Investigators G. Baloxavir Marboxil for Uncomplicated Influenza in Adults and Adolescents. N Engl J Med 2018; 379(10): 913-923. <doi:10.1056/NEJMoa1716197>

https://www.ncbi.nlm.nih.gov/pubmed/30184455

 

Kamei K, Miyairi I, Ishikura K, Ogura M, Shoji K, Funaki T, Ito R, Arai K, Abe J, Kawai T, Onodera M, Ito S. Prospective Study of Live Attenuated Vaccines for Patients with Nephrotic Syndrome Receiving Immunosuppressive Agents. J Pediatr 2018; 196217-222 e211. <doi:10.1016/j.jpeds.2017.12.061>

https://www.ncbi.nlm.nih.gov/pubmed/29499990

 

Kimiya T, Shinjoh M, Anzo M, Takahashi H, Sekiguchi S, Sugaya N, Takahashi T. Effectiveness of inactivated quadrivalent influenza vaccine in the 2015/2016 season as assessed in both a test-negative case-control study design and a traditional case-control study design. Eur J Pediatr 2018; 177(7): 1009-1017. <doi:10.1007/s00431-018-3145-7>

https://www.ncbi.nlm.nih.gov/pubmed/29680993

 

Kinoshita N, Shoji K, Funaki T, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Safety of BCG Vaccination in Pediatric Liver Transplant Recipients. Transplantation 2018; 102(4): e125. <doi:10.1097/TP.0000000000002103>

https://www.ncbi.nlm.nih.gov/pubmed/29346255

 

Kubota H, Uwamino Y, Matsui M, Sekizuka T, Suzuki Y, Okuno R, Uchitani Y, Ariyoshi T, Aoki W, Suzuki S, Kuroda M, Shinkai T, Yokoyama K, Sadamasu K, Funakoshi T, Murata M, Hasegawa N, Iwata S. FRI-4 carbapenemase-producing Enterobacter cloacae complex isolated in Tokyo, Japan. J Antimicrob Chemother 2018; 73(11): 2969-2972. <doi:10.1093/jac/dky291>

https://www.ncbi.nlm.nih.gov/pubmed/30060114

 

Kudo D, Sasaki J, Ikeda H, Shiino Y, Shime N, Mochizuki T, Morita M, Soeda H, Ohge H, Lee J J, Fujita M, Miyairi I, Kato Y, Watanabe M, Yokota H, Committee for Infection Control for the Emergency Department T J a F a M, The Joint Working G. A survey on infection control in emergency departments in Japan. Acute Med Surg 2018; 5(4): 374-379. <doi:10.1002/ams2.360>

https://www.ncbi.nlm.nih.gov/pubmed/30338085

 

Minami K, Terakawa R, Sato M, Shoji Y, Hiroma T, Nakamura T, Horiuchi A, Otsuka A, Kubota N, Hidaka E, Kawakami Y, Aung M S, Kobayashi N. A Colonization Outbreak of Penicillin-Susceptible mecA-Positive Staphylococcus aureus in a Neonatal Ward of Children’s Hospital. Infect Control Hosp Epidemiol 2018; 39(2): 239-241. <doi:10.1017/ice.2017.266>

https://www.ncbi.nlm.nih.gov/pubmed/29332612

 

Murofushi Y, Furuichi M, Shoji K, Kubota M, Ishiguro A, Uematsu S, Gai R, Miyairi I. Adverse Economic Impact Associated With Blood Culture Contamination in a Pediatric Emergency Department. Pediatr Infect Dis J 2018; 37(8): 755-758. <doi:10.1097/INF.0000000000001898>

https://www.ncbi.nlm.nih.gov/pubmed/29846358

 

Nakayama T, Kashiwagi Y, Kawashima H. Long-term regulation of local cytokine production following immunization in mice. Microbiol Immunol 2018; 62(2): 124-131. <doi:10.1111/1348-0421.12566>

https://www.ncbi.nlm.nih.gov/pubmed/29266448

 

Nakayama T, Tanaka T, Fujino M, Kino M, Kunitomi Y, Yatabe K. Change of Subcutaneous Tissue Mass at the Deltoid and Thigh Areas in Japanese Infants Followed from 2 to 15 Months. Open Journal of Pediatrics 2018; 08(04): 324-333. <doi:10.4236/ojped.2018.84033>

https://dx.doi.org/10.4236/ojped.2018.84033

 

Namkoong H, Ishii M, Fujii H, Yagi K, Asami T, Asakura T, Suzuki S, Hegab A E, Kamata H, Tasaka S, Atarashi K, Nakamoto N, Iwata S, Honda K, Kanai T, Hasegawa N, Koyasu S, Betsuyaku T. Clarithromycin expands CD11b+Gr-1+ cells via the STAT3/Bv8 axis to ameliorate lethal endotoxic shock and post-influenza bacterial pneumonia. PLoS Pathog 2018; 14(4): e1006955. <doi:10.1371/journal.ppat.1006955>

https://www.ncbi.nlm.nih.gov/pubmed/29621339

 

Namkoong H, Yamazaki M, Ishizaki M, Endo I, Harada N, Aramaki M, Tanaka Y, Kaburagi S, Ichikawa M, Ohata T, Sakaguchi S, Saito F, Nakao A, Yuki H, Mitamura K. Clinical Evaluation of the Immunochromatographic System Using Silver Amplification for the Rapid Detection of Mycoplasma pneumoniae. Sci Rep 2018; 8(1): 1430. <doi:10.1038/s41598-018-19734-y>

https://www.ncbi.nlm.nih.gov/pubmed/29362380

 

Ohnishi T, Mishima Y, Shinozuka S, Shikoro N, Kamimaki I. Apnea and delirious behavior caused by mild encephalitis/encephalopathy with reversible splenial lesion complicated with rotavirus infection. Pediatr Int 2018; 60(6): 602-604. <doi:10.1111/ped.13582>

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Okubo Y, Michihata N, Uda K, Morisaki N, Miyairi I, Matsui H, Fushimi K, Yasunaga H. Dose-response relationship between weight status and clinical outcomes in pediatric influenza-related respiratory infections. Pediatr Pulmonol 2018; 53(2): 218-223. <doi:10.1002/ppul.23927>

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Sawada A, Yunomae K, Nakayama T. Immunogenicity of recombinant measles vaccine expressing fusion protein of respiratory syncytial virus in cynomolgus monkeys. Microbiol Immunol 2018; 62(2): 132-136. <doi:10.1111/1348-0421.12559>

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Seki Y, Onose A, Murayama T, Koide C, Sugaya N. Influenza vaccine showed a good preventive effect against influenza-associated hospitalization among elderly patients, during the 2016/17 season in Japan. J Infect Chemother 2018; 24(11): 873-880. <doi:10.1016/j.jiac.2018.07.013>

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Shoji K, Kawai T, Onodera M, Tsutsumi Y, Nosaka S, Miyairi I. Multiple osteolytic lesions on the skull of a girl with Mendelian susceptibility to mycobacterial disease. Pediatr Int 2018; 60(11): 1043-1044. <doi:10.1111/ped.13691>

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Suto H, Nambu A, Morita H, Yamaguchi S, Numata T, Yoshizaki T, Shimura E, Arae K, Asada Y, Motomura K, Kaneko M, Abe T, Matsuda A, Iwakura Y, Okumura K, Saito H, Matsumoto K, Sudo K, Nakae S. IL-25 enhances TH17 cell-mediated contact dermatitis by promoting IL-1beta production by dermal dendritic cells. J Allergy Clin Immunol 2018; 142(5): 1500-1509 e1510. <doi:10.1016/j.jaci.2017.12.1007>

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Takesue Y, Kusachi S, Mikamo H, Sato J, Watanabe A, Kiyota H, Iwata S, Kaku M, Hanaki H, Sumiyama Y, Kitagawa Y, Mizuguchi T, Ambo Y, Konosu M, Ishibashi K, Matsuda A, Hase K, Harihara Y, Okabayashi K, Seki S, Hara T, Matsui K, Matsuo Y, Kobayashi M, Kubo S, Uchiyama K, Shimizu J, Kawabata R, Ohge H, Akagi S, Oka M, Wakatsuki T, Suzuki K, Okamoto K, Yanagihara K. Corrigendum to ‘Antimicrobial susceptibility of pathogens isolated from surgical site infections in Japan: Comparison of data from nationwide surveillance studies conducted in 2010 and 2014-2015’ [J Infect Chemother 23 (2017) 339-348]. J Infect Chemother 2018; 24(2): 156-157. <doi:10.1016/j.jiac.2017.11.009>

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Ubukata K, Morozumi M, Sakuma M, Takata M, Mokuno E, Tajima T, Iwata S, Group A O M S S. Etiology of Acute Otitis Media and Characterization of Pneumococcal Isolates After Introduction of 13-Valent Pneumococcal Conjugate Vaccine in Japanese Children. Pediatr Infect Dis J 2018; 37(6): 598-604. <doi:10.1097/INF.0000000000001956>

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Uda K, Koyama-Wakai C, Shoji K, Iwase N, Motooka D, Nakamura S, Miyairi I. WU polyomavirus detected in children with severe respiratory failure. J Clin Virol 2018; 10725-28. <doi:10.1016/j.jcv.2018.08.003>

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Uda K, Okubo Y, Shoji K, Miyairi I, Morisaki N, Michihata N, Matsui H, Fushimi K, Yasunaga H. Trends of neuraminidase inhibitors use in children with influenza related respiratory infections. Pediatr Pulmonol 2018; 53(6): 802-808. <doi:10.1002/ppul.24021>

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Uda K, Shoji K, Koyama-Wakai C, Furuichi M, Iwase N, Fujisaki S, Watanabe S, Miyairi I. Clinical characteristics of influenza virus-induced lower respiratory infection during the 2015 to 2016 season. J Infect Chemother 2018; 24(6): 407-413. <doi:10.1016/j.jiac.2018.01.002>

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Yamada M, Nguyen C, Fadakar P, Ganoza A, Humar A, Shapiro R, Michaels M G, Green M. Epidemiology and outcome of chronic high Epstein-Barr viral load carriage in pediatric kidney transplant recipients. Pediatr Transplant 2018; 22(3): e13147. <doi:10.1111/petr.13147>

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Yamaguchi S, Nambu A, Numata T, Yoshizaki T, Narushima S, Shimura E, Hiraishi Y, Arae K, Morita H, Matsumoto K, Hisatome I, Sudo K, Nakae S. The roles of IL-17C in T cell-dependent and -independent inflammatory diseases. Sci Rep 2018; 8(1): 15750. <doi:10.1038/s41598-018-34054-x>

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Yasui Y, Mitsui T, Nishimura T, Uchida K, Inokuchi M, Mori M, Tokumura M, Nakayama T. School-age children and adolescents suspected of having been to be infected with pertussis in Japan. Vaccine 2018; 36(20): 2910-2915. <doi:10.1016/j.vaccine.2018.01.048>

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Yoshii S, Uda K, Miyairi I, Nakao H, Kono N, Kubota M, Ishiguro A. Multiple Bullae Associated with Human Parvovirus B19. J Pediatr 2018; 202327-327 e321. <doi:10.1016/j.jpeds.2018.05.038>

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