Publications 2020

2020年】

<遺伝、染色体異常、先天奇形>

Baynam G S, Groft S, Van Der Westhuizen F H, Gassman S D, Du Plessis K, Coles E P, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera V A, Vorster B C, Wuebbels B, Djoudalbaye B, Austin C P, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan E J A, Taruscio D, Wong-Rieger D, Nowak K, Bilkey G A, Easteal S, Bowdin S, Reichardt J K V, Beltran S, Kosaki K, Van Karnebeek C D M, Gong M, Shuyang Z, Mehrian-Shai R, Adams D R, Puri R D, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl W A, Cederroth H, Broley S, Schoonen M, Boycott K M, Posada M. A call for global action for rare diseases in Africa. Nat Genet 2020; 52(1): 21-26. <doi:10.1038/s41588-019-0552-2>

https://www.ncbi.nlm.nih.gov/pubmed/31873296

 

Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K, Japan Eye Genetics C. Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Sci Rep 2020; 10(1): 9531. <doi:10.1038/s41598-020-65737-z>

https://www.ncbi.nlm.nih.gov/pubmed/32533067

 

Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio S Y, Usami S I, Matsunaga T, Hasegawa T, Sato Y, Ogawa K. A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. Medicine (Baltimore) 2020; 99(19): e19763. <doi:10.1097/MD.0000000000019763>

https://www.ncbi.nlm.nih.gov/pubmed/32384426

 

Fujita H, Sasaki T, Miyamoto T, Akutsu S N, Sato S, Mori T, Nakabayashi K, Hata K, Suzuki H, Kosaki K, Matsuura S, Matsubara Y, Amagai M, Kubo A. Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation. Aging Cell 2020; 19(11): e13251. <doi:10.1111/acel.13251>

https://www.ncbi.nlm.nih.gov/pubmed/33094908

 

Hamada J, Ochi F, Sei Y, Takemoto K, Hirai H, Honda M, Shibata H, Hasegawa T, Eguchi M. A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome. Hum Genome Var 2020; 730. <doi:10.1038/s41439-020-00118-6>

https://www.ncbi.nlm.nih.gov/pubmed/33082981

 

Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M. Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clin Epigenetics 2020; 12(1): 159. <doi:10.1186/s13148-020-00949-8>

https://www.ncbi.nlm.nih.gov/pubmed/33092629

 

Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged >/= 30 years. Clin Epigenetics 2020; 12(1): 111. <doi:10.1186/s13148-020-00900-x>

https://www.ncbi.nlm.nih.gov/pubmed/32698867

 

Hashimoto N, Dateki S, Suzuki E, Tsuchihashi T, Isobe A, Banno S, Kageyama T, Maeda N, Hatabu N, Sato R, Miharu M, Fujita H, Komiyama O, Shimizu H, Hasegawa T, Yamazawa K. Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia. Hum Genome Var 2020; 725. <doi:10.1038/s41439-020-00112-y>

https://www.ncbi.nlm.nih.gov/pubmed/33014402

 

Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Isobe S, Katsumata Y, Goto S, Kanekura K, Yamada Y, Moriyama H, Kitakata H, Endo J, Yuasa S, Arai Y, Hirose N, Satoh T, Hakamata Y, Sano M, Gamou S, Kosaki K, Fukuda K. Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. J Heart Lung Transplant 2020; 39(2): 103-112. <doi:10.1016/j.healun.2019.08.022>

https://www.ncbi.nlm.nih.gov/pubmed/31542298

 

Hwang I T, Mizuno Y, Amano N, Lee H J, Shim Y S, Nam H K, Rhie Y J, Yang S, Lee K H, Hasegawa T, Kang M J. Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. Mol Genet Genomic Med 2020; 8(3): e1146. <doi:10.1002/mgg3.1146>

https://www.ncbi.nlm.nih.gov/pubmed/31960617

 

Ishizaki-Asami R, Uchida K, Tsuchihashi T, Shibata A, Kodo K, Emoto K, Mikoshiba K, Takahashi T, Yamagishi H. Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development. Dev Biol 2020; 458(2): 237-245. <doi:10.1016/j.ydbio.2019.11.011>

https://www.ncbi.nlm.nih.gov/pubmed/31758944

 

Kawamura Y, Toyoda Y, Ohnishi T, Hisatomi R, Higashino T, Nakayama A, Shimizu S, Yanagi M, Kamimaki I, Fujimaru R, Suzuki H, Shinomiya N, Takada T, Matsuo H. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. Rheumatology (Oxford) 2020; 59(12): 3988-3990. <doi:10.1093/rheumatology/keaa461>

https://www.ncbi.nlm.nih.gov/pubmed/33011794

 

Ko S, Komuro J, Katsumata Y, Shiraishi Y, Kawakami T, Yamada Y, Yuasa S, Kohno T, Kosaki K, Fukuda K. Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty. Pulm Circ 2020; 10(4): 2045894020954310. <doi:10.1177/2045894020954310>

https://www.ncbi.nlm.nih.gov/pubmed/33240484

 

Kobayashi Y, Takeda T, Kunitomi H, Ueki A, Misu K, Kowashi A, Takahashi T, Anko M, Watanabe K, Masuda K, Uchida T, Tominaga E, Banno K, Kosaki K, Aoki D. Cowden syndrome complicated by schizophrenia: A first clinical report. Eur J Med Genet 2020; 63(8): 103959. <doi:10.1016/j.ejmg.2020.103959>

https://www.ncbi.nlm.nih.gov/pubmed/32461083

 

Kondo Y, Aoyama K, Suzuki H, Hattori A, Hori I, Ito K, Yoshida A, Koroki M, Ueda K, Kosaki K, Saitoh S. De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes. Hum Genome Var 2020; 719. <doi:10.1038/s41439-020-0107-1>

https://www.ncbi.nlm.nih.gov/pubmed/32528716

 

Kosaki R, Kubota M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes. Am J Med Genet A 2020; 182(7): 1601-1607. <doi:10.1002/ajmg.a.61589>

https://www.ncbi.nlm.nih.gov/pubmed/32369273

 

Li L, Fong C Y, Tay C G, Tae S K, Suzuki H, Kosaki K, Thong M K. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. J Clin Neurosci 2020; 71289-292. <doi:10.1016/j.jocn.2019.08.111>

https://www.ncbi.nlm.nih.gov/pubmed/31493991

 

Minamikawa S, Miwa S, Inagaki T, Nishiyama K, Kaito H, Ninchoji T, Yamamura T, Nagano C, Sakakibara N, Ishimori S, Hara S, Yoshikawa N, Hirano D, Harada R, Hamada R, Matsunoshita N, Nagata M, Shima Y, Nakanishi K, Nagase H, Takeda H, Morisada N, Iijima K, Nozu K. Molecular mechanisms determining severity in patients with Pierson syndrome. J Hum Genet 2020; 65(4): 355-362. <doi:10.1038/s10038-019-0715-0>

https://www.ncbi.nlm.nih.gov/pubmed/31959872

 

Morisada N, Hamada R, Miura K, Ye M J, Nozu K, Hattori M, Iijima K. Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations. CEN Case Rep 2020; 9(3): 260-265. <doi:10.1007/s13730-020-00472-y>

https://www.ncbi.nlm.nih.gov/pubmed/32253632

 

Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. Am J Med Genet A 2020; 182(10): 2333-2344. <doi:10.1002/ajmg.a.61793>

https://www.ncbi.nlm.nih.gov/pubmed/32803813

 

Murakami H, Uehara T, Tsurusaki Y, Enomoto Y, Kuroda Y, Aida N, Kosaki K, Kurosawa K. Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. Brain Dev 2020; 42(3): 289-292. <doi:10.1016/j.braindev.2019.12.008>

https://www.ncbi.nlm.nih.gov/pubmed/31955925

 

Ohki K, Takahashi H, Fukushima T, Nanmoku T, Kusano S, Mori M, Nakazawa Y, Yuza Y, Migita M, Okuno H, Morimoto A, Yoshino H, Kato M, Hayashi Y, Manabe A, Ohara A, Hasegawa D, Inukai T, Tomizawa D, Koh K, Kiyokawa N, Tokyo Children’s Cancer Study G. Impact of immunophenotypic characteristics on genetic subgrouping in childhood acute lymphoblastic leukemia: Tokyo Children’s Cancer Study Group (TCCSG) study L04-16. Genes Chromosomes Cancer 2020; 59(10): 551-561. <doi:10.1002/gcc.22858>

https://www.ncbi.nlm.nih.gov/pubmed/32368831

 

Ohnishi T, Asada N, Furuichi M, Sekiguchi S, Awazu M, Hori N, Kamimaki I. A novel screening method for pediatric urinary tract infection using ordinary diapers. Sci Rep 2020; 10(1): 19342. <doi:10.1038/s41598-020-76405-7>

https://www.ncbi.nlm.nih.gov/pubmed/33168907

 

Oiso N, Kubo A, Shimizu A, Suzuki H, Kosaki K, Chikugo T, Nakabayashi K, Hata K, Yanagihara S, Ishikawa O, Matsubara Y, Amagai M, Kawada A. Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: alpha-human papillomavirus infection in the evolving verruca. Int J Dermatol 2020; 59(9): e334-e336. <doi:10.1111/ijd.14883>

https://www.ncbi.nlm.nih.gov/pubmed/32406058

 

Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Dominguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients. J Clin Immunol 2020; 40(6): 851-860. <doi:10.1007/s10875-020-00808-4>

https://www.ncbi.nlm.nih.gov/pubmed/32594341

 

Sakaguchi Y, Uehara T, Sasaki M, Fujimura K, Kishi K, Kosaki K, Takenouchi T. Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism. Eur J Med Genet 2020; 63(4): 103803. <doi:10.1016/j.ejmg.2019.103803>

https://www.ncbi.nlm.nih.gov/pubmed/31698101

 

Shirai R, Osumi T, Terashima K, Kiyotani C, Uchiyama M, Tsujimoto S, Yoshida M, Yoshida K, Uchiyama T, Tomizawa D, Shioda Y, Sekiguchi M, Watanabe K, Keino D, Ueno-Yokohata H, Ohki K, Takita J, Ito S, Deguchi T, Kiyokawa N, Ogiwara H, Hishiki T, Ogawa S, Okita H, Matsumoto K, Yoshioka T, Kato M. High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors. Eur J Hum Genet 2020; 28(8): 1124-1128. <doi:10.1038/s41431-020-0614-z>

https://www.ncbi.nlm.nih.gov/pubmed/32218533

 

Sunaga Y, Muramatsu K, Kosaki K, Sugai K, Mizuno T, Kouno M, Tashiro M. Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. Brain Dev 2020; 42(7): 529-533. <doi:10.1016/j.braindev.2020.04.001>

https://www.ncbi.nlm.nih.gov/pubmed/32336483

 

Suzuki H, Yamada M, Uehara T, Takenouchi T, Kosaki K. Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients. Am J Med Genet A 2020; 182(11): 2529-2532. <doi:10.1002/ajmg.a.61822>

https://www.ncbi.nlm.nih.gov/pubmed/32779332

 

Suzuki-Muromoto S, Kosaki R, Kosaki K, Kubota M. Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy. Brain Dev 2020; 42(3): 293-297. <doi:10.1016/j.braindev.2019.12.007>

https://www.ncbi.nlm.nih.gov/pubmed/31902651

 

Takenouchi T, Yamada T, Kashiwagi Y, Yamaguchi Y, Uehara T, Kosaki K. Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2. J Pediatr Hematol Oncol 2020; 42(5): 370-371. <doi:10.1097/MPH.0000000000001834>

https://www.ncbi.nlm.nih.gov/pubmed/32487849

 

Takeshita Y, Ohto T, Enokizono T, Tanaka M, Suzuki H, Fukushima H, Uehara T, Takenouchi T, Kosaki K, Takada H. Novel ARX mutation identified in infantile spasm syndrome patient. Hum Genome Var 2020; 79. <doi:10.1038/s41439-020-0094-2>

https://www.ncbi.nlm.nih.gov/pubmed/32257294

 

Taruscio D, Baynam G, Cederroth H, Groft S C, Klee E W, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl W A. The Undiagnosed Diseases Network International: Five years and more! Mol Genet Metab 2020; 129(4): 243-254. <doi:10.1016/j.ymgme.2020.01.004>

https://www.ncbi.nlm.nih.gov/pubmed/32033911

 

Uehara T, Abe K, Oginuma M, Ishitani S, Yoshihashi H, Okamoto N, Takenouchi T, Kosaki K, Ishitani T. Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants. Sci Rep 2020; 10(1): 17575. <doi:10.1038/s41598-020-74642-4>

https://www.ncbi.nlm.nih.gov/pubmed/33067521

 

Uehara T, Yamada M, Umetsu S, Nittono H, Suzuki H, Fujisawa T, Takenouchi T, Inui A, Kosaki K. Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis. J Pediatr 2020; 221251-254. <doi:10.1016/j.jpeds.2020.01.064>

https://www.ncbi.nlm.nih.gov/pubmed/32303357

 

Yaginuma M, Sato T, Yuki K, Hasegawa T. Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma. Congenit Anom (Kyoto) 2020; 60(5): 151-152. <doi:10.1111/cga.12367>

https://www.ncbi.nlm.nih.gov/pubmed/31981267

 

Yamada M, Shiraishi Y, Uehara T, Suzuki H, Takenouchi T, Abe-Hatano C, Kurosawa K, Kosaki K. Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities. Mol Genet Genomic Med 2020; 8(9): e1364. <doi:10.1002/mgg3.1364>

https://www.ncbi.nlm.nih.gov/pubmed/32588992

 

Yamada M, Sokoda T, Uehara T, Suzuki H, Takenouchi T, Yagihashi T, Maruo Y, Kosaki K. Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. Am J Med Genet A 2020; 182(12): 3064-3067. <doi:10.1002/ajmg.a.61892>

https://www.ncbi.nlm.nih.gov/pubmed/32996679

 

Yamada M, Uehara T, Suzuki H, Takenouchi T, Inui A, Ikemiyagi M, Kamimaki I, Kosaki K. Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. Am J Med Genet A 2020; 182(7): 1631-1636. <doi:10.1002/ajmg.a.61598>

https://www.ncbi.nlm.nih.gov/pubmed/32412173

 

Yamada M, Uehara T, Suzuki H, Takenouchi T, Kosaki K. Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome. Am J Med Genet A 2020; 182(11): 2709-2714. <doi:10.1002/ajmg.a.61816>

https://www.ncbi.nlm.nih.gov/pubmed/32851780

 

Yamaguchi H, Morisada N, Maruyama A, Kosaki K, Nomura K. Improvement of opsoclonus after congenital cataract surgery in an infant. Pediatr Int 2020; 62(1): 108-109. <doi:10.1111/ped.14039>

https://www.ncbi.nlm.nih.gov/pubmed/31957102

 

Yokoi T, Enomoto Y, Uehara T, Kosaki K, Kurosawa K. A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing. Hum Genome Var 2020; 722. <doi:10.1038/s41439-020-0109-z>

https://www.ncbi.nlm.nih.gov/pubmed/32802388

 

<栄養障害、代謝性疾患、消化器疾患>

Mizuno K, Shimizu T, Ida S, Ito S, Inokuchi M, Ohura T, Okumura A, Kawai M, Kikuchi T, Sakurai M, Sugihara S, Suzuki M, Takitani K, Tanaka D, Mushiake S, Yoshiike N, Kodama H, Okada K, Tsutsumi C, Hara M, Hanawa Y, Kawakami K, Inomata H, Oguni T, Bito Y, Uchida K, Sugiyama A. Policy statement of enteral nutrition for preterm and very low birthweight infants. Pediatr Int 2020; 62(2): 124-127. <doi:10.1111/ped.14067>

https://www.ncbi.nlm.nih.gov/pubmed/32026585

 

Takahashi N, Fuchimoto Y, Mori T, Abe K, Yamada Y, Koinuma G, Kuroda T. Post-esophageal atresia repair double acquired tracheoesophageal fistulas treated successfully by gastric transposition: a case report. Surg Case Rep 2020; 6(1): 224. <doi:10.1186/s40792-020-01004-7>

https://www.ncbi.nlm.nih.gov/pubmed/32975613

 

Uehara T, Yamada M, Umetsu S, Nittono H, Suzuki H, Fujisawa T, Takenouchi T, Inui A, Kosaki K. Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis. J Pediatr 2020; 221251-254. <doi:10.1016/j.jpeds.2020.01.064>

https://www.ncbi.nlm.nih.gov/pubmed/32303357

 

<血液疾患、腫瘍>

Aoki T, Kishimoto H, Hirato J, Kanemura Y, Mori M, Arakawa Y, Kurihara J, Oguma E, Koh K. A 21-Month-Old Boy with One-Month History of Vomiting. Brain Pathol 2020; 30(2): 425-426. <doi:10.1111/bpa.12823>

https://www.ncbi.nlm.nih.gov/pubmed/32100428

 

Carcao M, Kearney S, Lu M Y, Taki M, Rubens D, Shen C, Santagostino E. Long-Term Safety and Efficacy of Nonacog Beta Pegol (N9-GP) Administered for at Least 5 Years in Previously Treated Children with Hemophilia B. Thromb Haemost 2020; 120(5): 737-746. <doi:10.1055/s-0040-1709521>

https://www.ncbi.nlm.nih.gov/pubmed/32369845

 

Dingler F A, Wang M, Mu A, Millington C L, Oberbeck N, Watcham S, Pontel L B, Kamimae-Lanning A N, Langevin F, Nadler C, Cordell R L, Monks P S, Yu R, Wilson N K, Hira A, Yoshida K, Mori M, Okamoto Y, Okuno Y, Muramatsu H, Shiraishi Y, Kobayashi M, Moriguchi T, Osumi T, Kato M, Miyano S, Ito E, Kojima S, Yabe H, Yabe M, Matsuo K, Ogawa S, Gottgens B, Hodskinson M R G, Takata M, Patel K J. Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans. Mol Cell 2020; 80(6): 996-1012 e1019. <doi:10.1016/j.molcel.2020.10.012>

https://www.ncbi.nlm.nih.gov/pubmed/33147438

 

Funaki T, Fukuda A, Sakamoto S, Kasahara M, Saitoh A, Miyairi I. Serostatus following polio-containing vaccination before and after liver transplantation. Pediatr Transplant 2020; 24(6): e13766. <doi:10.1111/petr.13766>

https://www.ncbi.nlm.nih.gov/pubmed/32558028

 

Funaki T, Shoji K, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Safety of LAVs administered after pediatric LT. Pediatr Transplant 2020e13937. <doi:10.1111/petr.13937>

https://www.ncbi.nlm.nih.gov/pubmed/33314516

 

Hara Y, Shiba N, Yamato G, Ohki K, Tabuchi K, Sotomatsu M, Tomizawa D, Kinoshita A, Arakawa H, Saito A M, Kiyokawa N, Tawa A, Horibe K, Taga T, Adachi S, Taki T, Hayashi Y. Patients aged less than 3 years with acute myeloid leukaemia characterize a molecularly and clinically distinct subgroup. Br J Haematol 2020; 188(4): 528-539. <doi:10.1111/bjh.16203>

https://www.ncbi.nlm.nih.gov/pubmed/31612466

 

Hasegawa D, Tawa A, Tomizawa D, Watanabe T, Saito A M, Kudo K, Taga T, Iwamoto S, Shimada A, Terui K, Moritake H, Kinoshita A, Takahashi H, Nakayama H, Koh K, Goto H, Kosaka Y, Miyachi H, Horibe K, Nakahata T, Adachi S. Attempts to optimize postinduction treatment in childhood acute myeloid leukemia without core-binding factors: A report from the Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG). Pediatr Blood Cancer 2020; 67(12): e28692. <doi:10.1002/pbc.28692>

https://www.ncbi.nlm.nih.gov/pubmed/32886449

 

Hiyama E, Hishiki T, Watanabe K, Ida K, Ueda Y, Kurihara S, Yano M, Hoshino K, Yokoi A, Takama Y, Nogami Y, Taguchi T, Mori M, Kihira K, Miyazaki O, Fuji H, Honda S, Iehara T, Kazama T, Fujimura J, Tanaka Y, Inoue T, Tajiri T, Kondo S, Oue T, Yoshimura K. Outcome and Late Complications of Hepatoblastomas Treated Using the Japanese Study Group for Pediatric Liver Tumor 2 Protocol. J Clin Oncol 2020; 38(22): 2488-2498. <doi:10.1200/JCO.19.01067>

https://www.ncbi.nlm.nih.gov/pubmed/32421442

 

Hosoba R, Makita S, Shiotsuka M, Kobayashi O, Nakano K, Muroya M, Okada N, Suzuki M, Ida H, Fukuhara S, Munakata W, Suzuki T, Maruyama D, Maeshima A M, Matsushita H, Yamamoto N, Ohe Y, Iwata S, Izutsu K. COVID-19 pneumonia in a patient with adult T-cell leukemia-lymphoma. J Clin Exp Hematop 2020; 60(4): 174-178. <doi:10.3960/jslrt.20030>

https://www.ncbi.nlm.nih.gov/pubmed/32879154

 

Inoue A, Imamura C K, Shimada H, Katayama D, Urabe K, Suzuki R, Takitani K, Ashida A. Pharmacokinetics, Efficacy and Safety of Bosutinib in a Pediatric Patient With Chronic Myeloid Leukemia. J Pediatr Pharmacol Ther 2020; 25(8): 742-745. <doi:10.5863/1551-6776-25.8.742>

https://www.ncbi.nlm.nih.gov/pubmed/33214787

 

Isshiki K, Shima H, Yamazaki F, Takenouchi T, Shimada H. A Case of Pulmonary Veno-occlusive Disease Following Hepatic Veno-occlusive Disease After Autologous Hematopoietic Stem Cell Transplantation for Neuroblastoma. J Pediatr Hematol Oncol 2020; 42(7): e677-e679. <doi:10.1097/MPH.0000000000001566>

https://www.ncbi.nlm.nih.gov/pubmed/31335821

 

Ito J, Nakano Y, Shima H, Miwa T, Kogure Y, Isshiki K, Yamazaki F, Oishi Y, Morimoto Y, Kataoka K, Okita H, Hirato J, Ichimura K, Shimada H. Central nervous system ganglioneuroblastoma harboring MYO5A-NTRK3 fusion. Brain Tumor Pathol 2020; 37(3): 105-110. <doi:10.1007/s10014-020-00371-1>

https://www.ncbi.nlm.nih.gov/pubmed/32556925

 

Kada A, Fukano R, Mori T, Kamei M, Tanaka F, Ueyama J, Sekimizu M, Osumi T, Mori T, Koga Y, Ohki K, Fujita N, Mitsui T, Saito A M, Hashimoto H, Kobayashi R. A Multicenter, Open-label, Clinical Trial to Assess the Effectiveness and Safety of Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced-intensity Conditioning in Relapsed/refractory Anaplastic Large-cell Lymphoma in Children. Acta Med Okayama 2020; 74(1): 89-94. <doi:10.18926/AMO/57959>

https://www.ncbi.nlm.nih.gov/pubmed/32099255

 

Kim Y, Sudo A, Oyama R, Keino D, Tomizawa D, Kato M, Osumi T, Mori T. Isolated Central Nervous System Progression During Systemic Treatment With Brentuximab Vedotin Monotherapy in a Pediatric Patient With Recurrent ALK-negative Anaplastic Large Cell Lymphoma. J Pediatr Hematol Oncol 2020. <doi:10.1097/MPH.0000000000001914>

https://www.ncbi.nlm.nih.gov/pubmed/32769561

 

Kudo K, Maeda M, Suzuki N, Kanegane H, Ohga S, Ishii E, Shioda Y, Imamura T, Imashuku S, Tsunematsu Y, Endo M, Shimada A, Koga Y, Hashii Y, Noguchi M, Inoue M, Tabuchi K, Morimoto A, Histiocytosis Study Group of the Japanese Society of Pediatric H O. Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis. Int J Hematol 2020; 111(1): 137-148. <doi:10.1007/s12185-019-02760-5>

https://www.ncbi.nlm.nih.gov/pubmed/31758416

 

Matsuoka Y J, Okubo R, Shimizu Y, Tsuji K, Narisawa T, Sasaki J, Sasai H, Akashi-Tanaka S, Hamaguchi T, Iwasa T, Iwata S, Kato T, Kurotani K, Maruyama D, Mori A, Ogawa A, Sakurai N, Shimazu T, Shimizu C, Tabuchi T, Takahashi M, Takano T, Tatematsu N, Uchitomi Y, Watanabe C, Fukui T. Developing the structure of Japan’s cancer survivorship guidelines using an expert panel and modified Delphi method. J Cancer Surviv 2020; 14(3): 273-283. <doi:10.1007/s11764-019-00840-3>

https://www.ncbi.nlm.nih.gov/pubmed/31811478

 

Mitsui T, Fujita N, Koga Y, Fukano R, Osumi T, Hama A, Koh K, Kakuda H, Inoue M, Fukuda T, Yabe H, Takita J, Shimada A, Hashii Y, Sato A, Atsuta Y, Kanda Y, Suzumiya J, Kobayashi R. The effect of graft-versus-host disease on outcomes after allogeneic stem cell transplantation for refractory lymphoblastic lymphoma in children and young adults. Pediatr Blood Cancer 2020; 67(4): e28129. <doi:10.1002/pbc.28129>

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Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica 2020; 105(4): 1166-1167. <doi:10.3324/haematol.2019.245720>

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Morizawa Y, Satoh H, Iwasa S, Sato A, Aoki Y, Hamada R. Clinical Accuracy of Average Creatinine and Cystatin-C-Based Estimated GFR in Japanese Living Renal Transplantation Donors. Transplant Proc 2020; 52(10): 3017-3022. <doi:10.1016/j.transproceed.2020.06.013>

https://www.ncbi.nlm.nih.gov/pubmed/32711850

 

Ohki K, Takahashi H, Fukushima T, Nanmoku T, Kusano S, Mori M, Nakazawa Y, Yuza Y, Migita M, Okuno H, Morimoto A, Yoshino H, Kato M, Hayashi Y, Manabe A, Ohara A, Hasegawa D, Inukai T, Tomizawa D, Koh K, Kiyokawa N, Tokyo Children’s Cancer Study G. Impact of immunophenotypic characteristics on genetic subgrouping in childhood acute lymphoblastic leukemia: Tokyo Children’s Cancer Study Group (TCCSG) study L04-16. Genes Chromosomes Cancer 2020; 59(10): 551-561. <doi:10.1002/gcc.22858>

https://www.ncbi.nlm.nih.gov/pubmed/32368831

 

Osumi T, Yoshimura S, Sako M, Uchiyama T, Ishikawa T, Kawai T, Inoue E, Takimoto T, Takeuchi I, Yamada M, Sakamoto K, Yoshida K, Kimura Y, Matsukawa Y, Matsumoto K, Imadome K I, Arai K, Deguchi T, Imai K, Yuza Y, Matsumoto K, Onodera M, Kanegane H, Tomizawa D, Kato M. Prospective Study of Allogeneic Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide and Antithymocyte Globulin from HLA-Mismatched Related Donors for Nonmalignant Diseases. Biol Blood Marrow Transplant 2020; 26(11): e286-e291. <doi:10.1016/j.bbmt.2020.08.008>

https://www.ncbi.nlm.nih.gov/pubmed/32798657

 

Sakamoto A, Yamada M, Tsujimoto S I, Osumi T, Arai K, Tomizawa D, Ishiguro A, Matsumoto K, Imadome K I, Kato M. A case of human herpesvirus 6 encephalitis following pediatric hematopoietic stem cell transplantation: early diagnosis and treatment matters. Int J Hematol 2020; 112(5): 751-754. <doi:10.1007/s12185-020-02905-x>

https://www.ncbi.nlm.nih.gov/pubmed/32529583

 

Sakamoto K, Osumi T, Yoshimura S, Shimizu S, Kato M, Tomizawa D, Fukuda A, Sakamoto S, Nakano N, Yoshioka T, Miyazaki O, Nosaka S, Deguchi T, Kiyokawa N, Kasahara M, Matsumoto K. Living-donor liver transplantation providing an adequate chemotherapy for a pediatric patient with anaplastic large cell lymphoma complicated with liver failure due to the aggravation of biliary hepatopathy by secondary hemophagocytic lymphohistiocytosis. Int J Hematol 2020; 112(6): 900-905. <doi:10.1007/s12185-020-02949-z>

https://www.ncbi.nlm.nih.gov/pubmed/32710432

 

Shirai R, Osumi T, Terashima K, Kiyotani C, Uchiyama M, Tsujimoto S, Yoshida M, Yoshida K, Uchiyama T, Tomizawa D, Shioda Y, Sekiguchi M, Watanabe K, Keino D, Ueno-Yokohata H, Ohki K, Takita J, Ito S, Deguchi T, Kiyokawa N, Ogiwara H, Hishiki T, Ogawa S, Okita H, Matsumoto K, Yoshioka T, Kato M. High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors. Eur J Hum Genet 2020; 28(8): 1124-1128. <doi:10.1038/s41431-020-0614-z>

https://www.ncbi.nlm.nih.gov/pubmed/32218533

 

Sugihara E, Hashimoto N, Osuka S, Shimizu T, Ueno S, Okazaki S, Yaguchi T, Kawakami Y, Kosaki K, Sato T A, Okamoto S, Saya H. The Inhibitor of Apoptosis Protein Livin Confers Resistance to Fas-Mediated Immune Cytotoxicity in Refractory Lymphoma. Cancer Res 2020; 80(20): 4439-4450. <doi:10.1158/0008-5472.CAN-19-3993>

https://www.ncbi.nlm.nih.gov/pubmed/32928920

 

Takenouchi T, Yamada T, Kashiwagi Y, Yamaguchi Y, Uehara T, Kosaki K. Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2. J Pediatr Hematol Oncol 2020; 42(5): 370-371. <doi:10.1097/MPH.0000000000001834>

https://www.ncbi.nlm.nih.gov/pubmed/32487849

 

Tsujimoto S I, Shirai R, Utano T, Osumi T, Matsumoto K, Shioda Y, Kiyotani C, Uchiyama T, Deguchi T, Terashima K, Tomizawa D, Matsumoto K, Kato M. Comparison of clonazepam and levetiracetam in children for prevention of busulfan-induced seizure in hematopoietic stem cell transplantation. Int J Hematol 2020; 111(3): 463-466. <doi:10.1007/s12185-019-02795-8>

https://www.ncbi.nlm.nih.gov/pubmed/31863341

 

Tsumura Y, Yamada Y, Osumi T, Kato M, Terashima K, Shioda Y, Kiyotani C, Matsumoto K, Tomizawa D. Successful Treatment With ATRA and Arsenic Trioxide for a Child With Down Syndrome and Acute Promyelocytic Leukemia. J Pediatr Hematol Oncol 2020; 42(4): 322-325. <doi:10.1097/MPH.0000000000001438>

https://www.ncbi.nlm.nih.gov/pubmed/30807394

 

Utano T, Kato M, Osumi T, Shioda Y, Kiyotani C, Terashima K, Tomizawa D, Matsumoto K, Yamatani A. Tacrolimus blood concentration increase depends on administration route when combined with voriconazole in pediatric stem cell transplant recipients. Pediatr Transplant 2020; 24(1): e13619. <doi:10.1111/petr.13619>

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Yamada M, Nowalk A, Green M. in Emerging Transplant Infections: Clinical Challenges and Implications   (eds Michele I. Morris, Camille Nelson Kotton, Camille Wolfe)  1-29 (Springer International Publishing, 2020).

 

Yamada M, Pellett Madan R. CMV as culprit or bystander: The debate continues. Pediatr Transplant 2020; 24(8): e13865. <doi:10.1111/petr.13865>

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Yamanaka J, Shimizu M, Sato M, Inoue M, Matsui M, Shimada H, Shichino H. A Case of Childhood Blastic Phase Chronic Myeloid Leukemia With Minor BCR-ABL. J Pediatr Hematol Oncol 2020; 42(6): e459-e462. <doi:10.1097/MPH.0000000000001488>

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Yoshida M, Tanase-Nakao K, Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol 2020; 191(5): 835-843. <doi:10.1111/bjh.17006>

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Yoshida N, Sakaguchi H, Yabe M, Hasegawa D, Hama A, Hasegawa D, Kato M, Noguchi M, Terui K, Takahashi Y, Cho Y, Sato M, Koh K, Kakuda H, Shimada H, Hashii Y, Sato A, Kato K, Atsuta Y, Watanabe K, Pediatric Myelodysplastic Syndrome Working Group of the Japan Society for Hematopoietic Cell T. Clinical Outcomes after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Juvenile Myelomonocytic Leukemia: A Report from the Japan Society for Hematopoietic Cell Transplantation. Biol Blood Marrow Transplant 2020; 26(5): 902-910. <doi:10.1016/j.bbmt.2019.11.029>

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<呼吸器疾患、アレルギー>

Adachi T, Kainuma K, Asano K, Amagai M, Arai H, Ishii K J, Ito K, Uchio E, Ebisawa M, Okano M, Kabashima K, Kondo K, Konno S, Saeki H, Sonobe M, Nagao M, Hizawa N, Fukushima A, Fujieda S, Matsumoto K, Morita H, Yamamoto K, Yoshimoto A, Tamari M. Strategic Outlook toward 2030: Japan’s research for allergy and immunology – Secondary publication. Allergol Int 2020; 69(4): 561-570. <doi:10.1016/j.alit.2020.04.006>

https://www.ncbi.nlm.nih.gov/pubmed/32600925

 

Fukushima N, Shimojima N, Ishitate M, Miyakawa T, Hirobe S, Miura M. Clinical and structural aspects of tracheal stenosis and a novel embryological hypothesis of left pulmonary artery sling. Pediatr Pulmonol 2020; 55(3): 747-753. <doi:10.1002/ppul.24661>

https://www.ncbi.nlm.nih.gov/pubmed/31975532

 

Kobayashi H, Takimoto T, Kitaoka H, Kijima T. Aerosol spread with use of high-flow nasal cannulae: a computational fluid dynamics analysis. J Hosp Infect 2020; 106(1): 204-205. <doi:10.1016/j.jhin.2020.06.010>

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Matsumoto K, Iikura K, Morita H, Saito H. Barrier dysfunction in the atopic march-how does atopic dermatitis lead to asthma in children? J Allergy Clin Immunol 2020; 145(6): 1551-1553. <doi:10.1016/j.jaci.2020.04.014>

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Ohno M, Fuchimoto Y, Higuchi M, Yamaoka T, Komura M, Umezawa A, Hsu H C, Enosawa S, Kuroda T. Long-term observation of airway reconstruction using decellularized tracheal allografts in micro-miniature pigs at growing stage. Regen Ther 2020; 1564-69. <doi:10.1016/j.reth.2020.04.010>

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Orimo K, Saito H, Matsumoto K, Morita H. Innate Lymphoid Cells in the Airways: Their Functions and Regulators. Allergy Asthma Immunol Res 2020; 12(3): 381-398. <doi:10.4168/aair.2020.12.3.381>

https://www.ncbi.nlm.nih.gov/pubmed/32141254

 

Radzikowska U, Ding M, Tan G, Zhakparov D, Peng Y, Wawrzyniak P, Wang M, Li S, Morita H, Altunbulakli C, Reiger M, Neumann A U, Lunjani N, Traidl-Hoffmann C, Nadeau K C, O’mahony L, Akdis C, Sokolowska M. Distribution of ACE2, CD147, CD26, and other SARS-CoV-2 associated molecules in tissues and immune cells in health and in asthma, COPD, obesity, hypertension, and COVID-19 risk factors. Allergy 2020; 75(11): 2829-2845. <doi:10.1111/all.14429>

https://www.ncbi.nlm.nih.gov/pubmed/32496587

 

Sokolowska M, Lukasik Z M, Agache I, Akdis C A, Akdis D, Akdis M, Barcik W, Brough H A, Eiwegger T, Eljaszewicz A, Eyerich S, Feleszko W, Gomez-Casado C, Hoffmann-Sommergruber K, Janda J, Jimenez-Saiz R, Jutel M, Knol E F, Kortekaas Krohn I, Kothari A, Makowska J, Moniuszko M, Morita H, O’mahony L, Nadeau K, Ozdemir C, Pali-Scholl I, Palomares O, Papaleo F, Prunicki M, Schmidt-Weber C B, Sediva A, Schwarze J, Shamji M H, Tramper-Stranders G A, Van De Veen W, Untersmayr E. Immunology of COVID-19: Mechanisms, clinical outcome, diagnostics, and perspectives-A report of the European Academy of Allergy and Clinical Immunology (EAACI). Allergy 2020; 75(10): 2445-2476. <doi:10.1111/all.14462>

https://www.ncbi.nlm.nih.gov/pubmed/32584441

 

Takahashi N, Fuchimoto Y, Mori T, Abe K, Yamada Y, Koinuma G, Kuroda T. Post-esophageal atresia repair double acquired tracheoesophageal fistulas treated successfully by gastric transposition: a case report. Surg Case Rep 2020; 6(1): 224. <doi:10.1186/s40792-020-01004-7>

https://www.ncbi.nlm.nih.gov/pubmed/32975613

 

Unno H, Arae K, Matsuda A, Ikutani M, Tamari M, Motomura K, Toyama S, Suto H, Okumura K, Matsuda A, Morita H, Sudo K, Saito H, Matsumoto K, Nakae S. Critical role of IL-33, but not IL-25 or TSLP, in silica crystal-mediated exacerbation of allergic airway eosinophilia. Biochem Biophys Res Commun 2020; 533(3): 493-500. <doi:10.1016/j.bbrc.2020.09.046>

https://www.ncbi.nlm.nih.gov/pubmed/32977946

 

<循環器疾患>

Fujisawa T, Aizawa Y, Katsumata Y, Kimura K, Hashimoto K, Yamashita T, Miyama H, Kimura T, Kosaki K, Takatsuki S, Shimizu W, Fukuda K. Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome. J Arrhythm 2020; 36(1): 193-196. <doi:10.1002/joa3.12300>

https://www.ncbi.nlm.nih.gov/pubmed/32071644

 

Fukushima N, Shimojima N, Ishitate M, Miyakawa T, Hirobe S, Miura M. Clinical and structural aspects of tracheal stenosis and a novel embryological hypothesis of left pulmonary artery sling. Pediatr Pulmonol 2020; 55(3): 747-753. <doi:10.1002/ppul.24661>

https://www.ncbi.nlm.nih.gov/pubmed/31975532

 

Hiraide T, Kataoka M, Suzuki H, Aimi Y, Chiba T, Isobe S, Katsumata Y, Goto S, Kanekura K, Yamada Y, Moriyama H, Kitakata H, Endo J, Yuasa S, Arai Y, Hirose N, Satoh T, Hakamata Y, Sano M, Gamou S, Kosaki K, Fukuda K. Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. J Heart Lung Transplant 2020; 39(2): 103-112. <doi:10.1016/j.healun.2019.08.022>

https://www.ncbi.nlm.nih.gov/pubmed/31542298

 

Iio K, Fukushima N, Akamine K, Uda K, Hataya H, Miura M. Acute Rheumatic Fever and Kawasaki Disease Occurring in a Single Patient. Front Pediatr 2020; 8562. <doi:10.3389/fped.2020.00562>

https://www.ncbi.nlm.nih.gov/pubmed/33014943

 

Ishizaki-Asami R, Uchida K, Tsuchihashi T, Shibata A, Kodo K, Emoto K, Mikoshiba K, Takahashi T, Yamagishi H. Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development. Dev Biol 2020; 458(2): 237-245. <doi:10.1016/j.ydbio.2019.11.011>

https://www.ncbi.nlm.nih.gov/pubmed/31758944

 

Ko S, Komuro J, Katsumata Y, Shiraishi Y, Kawakami T, Yamada Y, Yuasa S, Kohno T, Kosaki K, Fukuda K. Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty. Pulm Circ 2020; 10(4): 2045894020954310. <doi:10.1177/2045894020954310>

https://www.ncbi.nlm.nih.gov/pubmed/33240484

 

Sumitomo N F, Fukushima N, Miura M. Flecainide improves cardiac synchronization in an early infant with Wolff-Parkinson-White syndrome with left ventricular dyssynchrony. J Cardiol Cases 2020; 22(1): 1-4. <doi:10.1016/j.jccase.2020.03.004>

https://www.ncbi.nlm.nih.gov/pubmed/32636959

 

<新生児疾患>

Arimitsu T, Wakabayashi D, Tamaoka S, Takahashi M, Hida M, Takahashi T. Case Report: Intact Survival of a Marginally Viable Male Infant Born Weighing 268 Grams at 24 Weeks Gestation. Front Pediatr 2020; 8628362. <doi:10.3389/fped.2020.628362>

https://www.ncbi.nlm.nih.gov/pubmed/33614546

 

Fujimori K, Yamada M, Maekawa T, Yotani N, Tamura E I, Imadome K I, Kubota M, Ishiguro A. A case of neonatal cytomegalovirus infection with severe thrombocytopenia that was successfully managed with empiric antiviral therapy. IDCases 2020; 19e00675. <doi:10.1016/j.idcr.2019.e00675>

https://www.ncbi.nlm.nih.gov/pubmed/32226764

 

<神経・筋疾患、心身症>

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N. Nonsense variants of STAG2 result in distinct congenital anomalies. Hum Genome Var 2020; 726. <doi:10.1038/s41439-020-00114-w>

https://www.ncbi.nlm.nih.gov/pubmed/33014403

 

Aoki T, Kishimoto H, Hirato J, Kanemura Y, Mori M, Arakawa Y, Kurihara J, Oguma E, Koh K. A 21-Month-Old Boy with One-Month History of Vomiting. Brain Pathol 2020; 30(2): 425-426. <doi:10.1111/bpa.12823>

https://www.ncbi.nlm.nih.gov/pubmed/32100428

 

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. Epilepsy Behav Rep 2020; 13100349. <doi:10.1016/j.ebr.2019.100349>

https://www.ncbi.nlm.nih.gov/pubmed/31879735

 

Ikenori M, Yotani N, Yamada M, Imadome K I, Miyairi I, Ishiguro A. Eleven-Year-Old Girl with Acute Genital Ulcers: Was It Sexual Abuse? J Paediatr Child Health 2020; 56(12): 1995-1996. <doi:10.1111/jpc.15210>

https://www.ncbi.nlm.nih.gov/pubmed/33351258

 

Kamidani S, Shoji K, Ogawa E, Funaki T, Mishina H, Miyairi I. High Rate of Febrile Seizures in Japanese Children With Occult Bacteremia. Pediatr Emerg Care 2020; 36(4): e199-e203. <doi:10.1097/PEC.0000000000001274>

https://www.ncbi.nlm.nih.gov/pubmed/28953097

 

Kasai M, Shibata A, Hoshino A, Maegaki Y, Yamanouchi H, Takanashi J I, Yamagata T, Sakuma H, Okumura A, Nagase H, Ishii A, Goto T, Oka A, Mizuguchi M. Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014-2017. Brain Dev 2020; 42(7): 508-514. <doi:10.1016/j.braindev.2020.04.006>

https://www.ncbi.nlm.nih.gov/pubmed/32360071

 

Kobayashi Y, Takeda T, Kunitomi H, Ueki A, Misu K, Kowashi A, Takahashi T, Anko M, Watanabe K, Masuda K, Uchida T, Tominaga E, Banno K, Kosaki K, Aoki D. Cowden syndrome complicated by schizophrenia: A first clinical report. Eur J Med Genet 2020; 63(8): 103959. <doi:10.1016/j.ejmg.2020.103959>

https://www.ncbi.nlm.nih.gov/pubmed/32461083

 

Maruyama Y, Sato M, Inaba Y, Fukuyama T. Comparison of mild encephalopathy with reversible splenial lesion with and without acute focal bacterial nephritis. Brain Dev 2020; 42(1): 56-63. <doi:10.1016/j.braindev.2019.08.008>

https://www.ncbi.nlm.nih.gov/pubmed/31591022

 

Muller P A, Schneeberger M, Matheis F, Wang P, Kerner Z, Ilanges A, Pellegrino K, Del Marmol J, Castro T B R, Furuichi M, Perkins M, Han W, Rao A, Pickard A J, Cross J R, Honda K, De Araujo I, Mucida D. Microbiota modulate sympathetic neurons via a gut-brain circuit. Nature 2020; 583(7816): 441-446. <doi:10.1038/s41586-020-2474-7>

https://www.ncbi.nlm.nih.gov/pubmed/32641826

 

Murakami H, Uehara T, Tsurusaki Y, Enomoto Y, Kuroda Y, Aida N, Kosaki K, Kurosawa K. Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15. Brain Dev 2020; 42(3): 289-292. <doi:10.1016/j.braindev.2019.12.008>

https://www.ncbi.nlm.nih.gov/pubmed/31955925

 

Nishimura N, Kumaki T, Murakami H, Enomoto Y, Tsurusaki Y, Tsuji M, Tsuyusaki Y, Goto T, Aida N, Kurosawa K. Expanding the phenotype of COL4A1-related disorders-Four novel variants. Brain Dev 2020; 42(9): 639-645. <doi:10.1016/j.braindev.2020.05.009>

https://www.ncbi.nlm.nih.gov/pubmed/32565002

 

Nishiya K, Sekiguchi S, Yoshimura H, Takamura A, Wada H, Konishi E, Saiki T, Tsunekawa K, Fujisaki K, Suzuki Y. Good clinical teachers in pediatrics: The perspective of pediatricians in Japan. Pediatr Int 2020; 62(5): 549-555. <doi:10.1111/ped.14125>

https://www.ncbi.nlm.nih.gov/pubmed/31883414

 

Sakaguchi Y, Uehara T, Sasaki M, Fujimura K, Kishi K, Kosaki K, Takenouchi T. Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism. Eur J Med Genet 2020; 63(4): 103803. <doi:10.1016/j.ejmg.2019.103803>

https://www.ncbi.nlm.nih.gov/pubmed/31698101

 

Sasaki Y, Yagihashi T, Kasahara M, Usami M, Kono T, Okada T. Clinical implications of a history of stealing on psychiatric disorders in children and adolescents. PLoS One 2020; 15(8): e0237906. <doi:10.1371/journal.pone.0237906>

https://www.ncbi.nlm.nih.gov/pubmed/32853286

 

Sunaga Y, Muramatsu K, Kosaki K, Sugai K, Mizuno T, Kouno M, Tashiro M. Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. Brain Dev 2020; 42(7): 529-533. <doi:10.1016/j.braindev.2020.04.001>

https://www.ncbi.nlm.nih.gov/pubmed/32336483

 

Suzuki-Muromoto S, Kosaki R, Kosaki K, Kubota M. Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy. Brain Dev 2020; 42(3): 293-297. <doi:10.1016/j.braindev.2019.12.007>

https://www.ncbi.nlm.nih.gov/pubmed/31902651

 

Takenouchi T, Yamada T, Kashiwagi Y, Yamaguchi Y, Uehara T, Kosaki K. Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2. J Pediatr Hematol Oncol 2020; 42(5): 370-371. <doi:10.1097/MPH.0000000000001834>

https://www.ncbi.nlm.nih.gov/pubmed/32487849

 

Takeshita Y, Ohto T, Enokizono T, Tanaka M, Suzuki H, Fukushima H, Uehara T, Takenouchi T, Kosaki K, Takada H. Novel ARX mutation identified in infantile spasm syndrome patient. Hum Genome Var 2020; 79. <doi:10.1038/s41439-020-0094-2>

https://www.ncbi.nlm.nih.gov/pubmed/32257294

 

Tsuji M, Tanaka M, Tanaka Y, Ikeda A, Tsuyusaki Y, Goto T, Iai M. Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years. Neuropediatrics 2020; 51(4): 298-301. <doi:10.1055/s-0040-1705172>

https://www.ncbi.nlm.nih.gov/pubmed/32143223

 

Uemura T, Ito S, Masuda T, Shimbo H, Goto T, Osaka H, Wada T, Couraud P O, Ohtsuki S. Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts. Pharm Res 2020; 37(3): 61. <doi:10.1007/s11095-020-2779-0>

https://www.ncbi.nlm.nih.gov/pubmed/32124083

 

Yamada M, Shiraishi Y, Uehara T, Suzuki H, Takenouchi T, Abe-Hatano C, Kurosawa K, Kosaki K. Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities. Mol Genet Genomic Med 2020; 8(9): e1364. <doi:10.1002/mgg3.1364>

https://www.ncbi.nlm.nih.gov/pubmed/32588992

 

Yamada M, Sokoda T, Uehara T, Suzuki H, Takenouchi T, Yagihashi T, Maruo Y, Kosaki K. Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. Am J Med Genet A 2020; 182(12): 3064-3067. <doi:10.1002/ajmg.a.61892>

https://www.ncbi.nlm.nih.gov/pubmed/32996679

 

Yamaguchi H, Morisada N, Maruyama A, Kosaki K, Nomura K. Improvement of opsoclonus after congenital cataract surgery in an infant. Pediatr Int 2020; 62(1): 108-109. <doi:10.1111/ped.14039>

https://www.ncbi.nlm.nih.gov/pubmed/31957102

 

Yamashita Y, Ogawa T, Ogaki K, Kamo H, Sukigara T, Kitahara E, Izawa N, Iwamuro H, Oyama G, Kamagata K, Hatano T, Umemura A, Kosaki R, Kubota M, Shimo Y, Hattori N. Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report. J Neurol Sci 2020; 411116710. <doi:10.1016/j.jns.2020.116710>

https://www.ncbi.nlm.nih.gov/pubmed/32044685

 

<腎・泌尿器疾患、生殖器疾患>

Aoki Y, Hamasaki Y, Satoh H, Matsui Z, Muramatsu M, Hamada R, Harada R, Ishikura K, Hataya H, Honda M, Sakai K, Shishido S. Long-term outcomes of pediatric kidney transplantation: A single-center experience over the past 34 years in Japan. Int J Urol 2020; 27(2): 172-178. <doi:10.1111/iju.14160>

https://www.ncbi.nlm.nih.gov/pubmed/31826334

 

Awazu M, Hida M. Folic acid supplementation alleviates reduced ureteric branching, nephrogenesis, and global DNA methylation induced by maternal nutrient restriction in rat embryonic kidney. PLoS One 2020; 15(4): e0230289. <doi:10.1371/journal.pone.0230289>

https://www.ncbi.nlm.nih.gov/pubmed/32251454

 

Dote Y, Kibe T, Murakami T, Awazu M. Ask-Upmark kidney in a girl with neurofibromatosis type 1. CEN Case Rep 2020; 9(3): 285-288. <doi:10.1007/s13730-020-00470-0>

https://www.ncbi.nlm.nih.gov/pubmed/32277359

 

Gotoh Y, Shishido S, Hamasaki Y, Watarai Y, Hattori M, Miura K, Ishizuka K, Fujita N, Saito K, Nakagawa Y, Hotta K, Hataya H, Hamada R, Sato H, Kitayama H, Ishikura K, Honda M, Uemura O. Kidney function of Japanese children undergoing kidney transplant with preemptive therapy for cytomegalovirus infection. Transpl Infect Dis 2020; 22(3): e13271. <doi:10.1111/tid.13271>

https://www.ncbi.nlm.nih.gov/pubmed/32108410

 

Hamasaki Y, Hamada R, Muramatsu M, Matsumoto S, Aya K, Ishikura K, Kaneko T, Iijima K. A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan. BMC Nephrol 2020; 21(1): 363. <doi:10.1186/s12882-020-02010-5>

https://www.ncbi.nlm.nih.gov/pubmed/32838745

 

Hirano D, Inoue E, Sako M, Ashida A, Honda M, Takahashi S, Iijima K, Hattori M, Japanese Society of Pediatric N. Clinical characteristics at the renal replacement therapy initiation of Japanese pediatric patients: a nationwide cross-sectional study. Clin Exp Nephrol 2020; 24(1): 82-87. <doi:10.1007/s10157-019-01788-5>

https://www.ncbi.nlm.nih.gov/pubmed/31541336

 

Ito S, Torii T, Nakajima A, Iijima T, Murano H, Horiuchi H, Yamanaka H, Honda M. Prevalence of gout and asymptomatic hyperuricemia in the pediatric population: a cross-sectional study of a Japanese health insurance database. BMC Pediatr 2020; 20(1): 481. <doi:10.1186/s12887-020-02379-0>

https://www.ncbi.nlm.nih.gov/pubmed/33059648

 

Jia X, Yamamura T, Gbadegesin R, Mcnulty M T, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor S S, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y, Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome In J, Baek J, Kang H G, Ha I S, Han K H, Yang E M, Korean Consortium of Hereditary Renal Diseases In C, Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A, Midwest Pediatric Nephrology C, Dossier C, Deschenes G, Nephrovir, Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong H I, Sampson M G, Tokunaga K, Iijima K. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int 2020; 98(5): 1308-1322. <doi:10.1016/j.kint.2020.05.029>

https://www.ncbi.nlm.nih.gov/pubmed/32554042

 

Kawamura Y, Toyoda Y, Ohnishi T, Hisatomi R, Higashino T, Nakayama A, Shimizu S, Yanagi M, Kamimaki I, Fujimaru R, Suzuki H, Shinomiya N, Takada T, Matsuo H. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. Rheumatology (Oxford) 2020; 59(12): 3988-3990. <doi:10.1093/rheumatology/keaa461>

https://www.ncbi.nlm.nih.gov/pubmed/33011794

 

Louis K, Macedo C, Bailly E, Lau L, Ramaswami B, Marrari M, Landsittel D, Chang A, Chandran U, Fadakar P, Yamada M, Chalasani G, Randhawa P, Zeevi A, Singh H, Lefaucheur C, Metes D. Coordinated Circulating T Follicular Helper and Activated B Cell Responses Underlie the Onset of Antibody-Mediated Rejection in Kidney Transplantation. J Am Soc Nephrol 2020; 31(10): 2457-2474. <doi:10.1681/ASN.2020030320>

https://www.ncbi.nlm.nih.gov/pubmed/32723838

 

Maruyama Y, Sato M, Inaba Y, Fukuyama T. Comparison of mild encephalopathy with reversible splenial lesion with and without acute focal bacterial nephritis. Brain Dev 2020; 42(1): 56-63. <doi:10.1016/j.braindev.2019.08.008>

https://www.ncbi.nlm.nih.gov/pubmed/31591022

 

Minamikawa S, Miwa S, Inagaki T, Nishiyama K, Kaito H, Ninchoji T, Yamamura T, Nagano C, Sakakibara N, Ishimori S, Hara S, Yoshikawa N, Hirano D, Harada R, Hamada R, Matsunoshita N, Nagata M, Shima Y, Nakanishi K, Nagase H, Takeda H, Morisada N, Iijima K, Nozu K. Molecular mechanisms determining severity in patients with Pierson syndrome. J Hum Genet 2020; 65(4): 355-362. <doi:10.1038/s10038-019-0715-0>

https://www.ncbi.nlm.nih.gov/pubmed/31959872

 

Morisada N, Hamada R, Miura K, Ye M J, Nozu K, Hattori M, Iijima K. Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations. CEN Case Rep 2020; 9(3): 260-265. <doi:10.1007/s13730-020-00472-y>

https://www.ncbi.nlm.nih.gov/pubmed/32253632

 

Morizawa Y, Satoh H, Iwasa S, Sato A, Aoki Y, Hamada R. Clinical Accuracy of Average Creatinine and Cystatin-C-Based Estimated GFR in Japanese Living Renal Transplantation Donors. Transplant Proc 2020; 52(10): 3017-3022. <doi:10.1016/j.transproceed.2020.06.013>

https://www.ncbi.nlm.nih.gov/pubmed/32711850

 

Morizawa Y, Satoh H, Iwasa S, Sato A, Aoki Y, Harada R, Hamada R, Hataya H. Increasing bladder capacity and vesicoureteral reflux in pediatric kidney transplant patients. Int J Urol 2020; 27(11): 1008-1012. <doi:10.1111/iju.14348>

https://www.ncbi.nlm.nih.gov/pubmed/32789949

 

Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy. Pediatr Int 2020; 62(4): 428-437. <doi:10.1111/ped.14089>

https://www.ncbi.nlm.nih.gov/pubmed/31830341

 

Ohnishi T, Asada N, Furuichi M, Sekiguchi S, Awazu M, Hori N, Kamimaki I. A novel screening method for pediatric urinary tract infection using ordinary diapers. Sci Rep 2020; 10(1): 19342. <doi:10.1038/s41598-020-76405-7>

https://www.ncbi.nlm.nih.gov/pubmed/33168907

 

Ohnishi T, Asato S, Maeda A, Nagata M, Uwamino Y, Kamimaki I. Does the patient truly not have congenital anomalies of the kidney and urinary tract? Urinary tract infection caused by Gardnerella vaginalis. Pediatr Int 2020; 62(8): 1009-1010. <doi:10.1111/ped.14328>

https://www.ncbi.nlm.nih.gov/pubmed/32851758

 

Ohnishi T, Mishima Y, Takizawa S, Tsutsumi K, Amemiya A, Akiyama N, Kanna Y, Asato S, Tomita M, Ikemiyagi M, Shikoro N, Nakazawa M, Kurihara N, Kamimaki I. Clinical Features of Febrile Urinary Tract Infection Caused by Extended-spectrum Beta-lactamase-producing Escherichia Coli in Children. Keio J Med 2020; 69(2): 43-47. <doi:10.2302/kjm.2019-0005-OA>

https://www.ncbi.nlm.nih.gov/pubmed/31474677

 

Saida K, Kamei K, Hamada R, Yoshikawa T, Kano Y, Nagata H, Sato M, Ogura M, Harada R, Hataya H, Miyazaki O, Nosaka S, Ito S, Ishikura K. A simple, refined approach to diagnosing renovascular hypertension in children: A 10-year study. Pediatr Int 2020; 62(8): 937-943. <doi:10.1111/ped.14224>

https://www.ncbi.nlm.nih.gov/pubmed/32153091

 

Saito-Abe M, Yamamoto-Hanada K, Nakayama S F, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometry. Pediatr Int 2020; 62(7): 785-788. <doi:10.1111/ped.14166>

https://www.ncbi.nlm.nih.gov/pubmed/31976606

 

Sakai T, Nomura Y, Sawai T, Hamada R, Gotoh Y, Yamamoto K, Ichioka S, Masuda T, Maruo Y, Honda M. Uptake of further investigations following universal urinary screening among elementary and junior high school students in Shiga Prefecture, Japan: A retrospective cohort study. Nephrology (Carlton) 2020; 25(8): 599-606. <doi:10.1111/nep.13710>

https://www.ncbi.nlm.nih.gov/pubmed/32147900

 

Yamada M, Uehara T, Suzuki H, Takenouchi T, Inui A, Ikemiyagi M, Kamimaki I, Kosaki K. Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1. Am J Med Genet A 2020; 182(7): 1631-1636. <doi:10.1002/ajmg.a.61598>

https://www.ncbi.nlm.nih.gov/pubmed/32412173

 

<先天代謝異常、内分泌疾患>

Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio S Y, Usami S I, Matsunaga T, Hasegawa T, Sato Y, Ogawa K. A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. Medicine (Baltimore) 2020; 99(19): e19763. <doi:10.1097/MD.0000000000019763>

https://www.ncbi.nlm.nih.gov/pubmed/32384426

 

Fukaishi T, Minami I, Masuda S, Miyachi Y, Tsujimoto K, Izumiyama H, Hashimoto K, Yoshida M, Takahashi S, Kashimada K, Morio T, Kosaki K, Maezawa Y, Yokote K, Yoshimoto T, Yamada T. A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr J 2020; 67(2): 211-218. <doi:10.1507/endocrj.EJ19-0226>

https://www.ncbi.nlm.nih.gov/pubmed/31708526

 

Hamada J, Ochi F, Sei Y, Takemoto K, Hirai H, Honda M, Shibata H, Hasegawa T, Eguchi M. A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome. Hum Genome Var 2020; 730. <doi:10.1038/s41439-020-00118-6>

https://www.ncbi.nlm.nih.gov/pubmed/33082981

 

Hashimoto N, Dateki S, Suzuki E, Tsuchihashi T, Isobe A, Banno S, Kageyama T, Maeda N, Hatabu N, Sato R, Miharu M, Fujita H, Komiyama O, Shimizu H, Hasegawa T, Yamazawa K. Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia. Hum Genome Var 2020; 725. <doi:10.1038/s41439-020-00112-y>

https://www.ncbi.nlm.nih.gov/pubmed/33014402

 

Hwang I T, Mizuno Y, Amano N, Lee H J, Shim Y S, Nam H K, Rhie Y J, Yang S, Lee K H, Hasegawa T, Kang M J. Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations. Mol Genet Genomic Med 2020; 8(3): e1146. <doi:10.1002/mgg3.1146>

https://www.ncbi.nlm.nih.gov/pubmed/31960617

 

Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited. J Clin Endocrinol Metab 2020; 105(11). <doi:10.1210/clinem/dgaa557>

https://www.ncbi.nlm.nih.gov/pubmed/32835366

 

Iwahashi-Odano M, Nagasaki K, Fukami M, Nishioka J, Yatsuga S, Asakura Y, Adachi M, Muroya K, Hasegawa T, Narumi S. Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies. J Clin Endocrinol Metab 2020; 105(11). <doi:10.1210/clinem/dgaa584>

https://www.ncbi.nlm.nih.gov/pubmed/32841355

 

Kagami R, Sato T, Ishii T, Araki E, Yamashita Y, Shibata H, Ishihara J, Hasegawa T. Central precocious puberty in a boy with pseudohypoparathyroidism type Ia due to a novel GNAS mutation. Clin Pediatr Endocrinol 2020; 29(2): 89-90. <doi:10.1297/cpe.29.89>

https://www.ncbi.nlm.nih.gov/pubmed/32313379

 

Matsumoto R, Suga H, Aoi T, Bando H, Fukuoka H, Iguchi G, Narumi S, Hasegawa T, Muguruma K, Ogawa W, Takahashi Y. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. J Clin Invest 2020; 130(2): 641-654. <doi:10.1172/JCI127378>

https://www.ncbi.nlm.nih.gov/pubmed/31845906

 

Matsuoka K, Sato Y, Hoshi S, Koguchi T, Ogawa S, Ishii T, Haga N, Hasegawa T, Kojima Y. Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells. IJU Case Rep 2020; 3(2): 53-56. <doi:10.1002/iju5.12142>

https://www.ncbi.nlm.nih.gov/pubmed/32743469

 

Nagasaki K, Takase K, Numakura C, Homma K, Hasegawa T, Fukami M. Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour. Hum Reprod 2020; 35(11): 2609-2612. <doi:10.1093/humrep/deaa221>

https://www.ncbi.nlm.nih.gov/pubmed/32862221

 

Saito-Abe M, Yamamoto-Hanada K, Nakayama S F, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometry. Pediatr Int 2020; 62(7): 785-788. <doi:10.1111/ped.14166>

https://www.ncbi.nlm.nih.gov/pubmed/31976606

 

Sato T, Ishii T, Yamaguchi Y, Ichihashi Y, Ochiai D, Asanuma H, Kuroda T, Hasegawa T. Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia. Front Pediatr 2020; 8569548. <doi:10.3389/fped.2020.569548>

https://www.ncbi.nlm.nih.gov/pubmed/33520882

 

Sato T, Kusakawa M, Ichihashi Y, Ishii T, Hasegawa T. Testosterone priming increased growth hormone peak levels in the stimulation test and suppressed gonadotropin secretion in three Japanese adolescent boys. Clin Pediatr Endocrinol 2020; 29(3): 119-121. <doi:10.1297/cpe.29.119>

https://www.ncbi.nlm.nih.gov/pubmed/32694889

 

Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T. Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. Clin Pediatr Endocrinol 2020; 29(4): 179-182. <doi:10.1297/cpe.29.179>

https://www.ncbi.nlm.nih.gov/pubmed/33088017

 

Uchida N, Shibata H, Nishimura G, Hasegawa T. A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease. Hum Genome Var 2020; 7(1): 44. <doi:10.1038/s41439-020-00132-8>

https://www.ncbi.nlm.nih.gov/pubmed/33298914

 

Yaginuma M, Sato T, Yuki K, Hasegawa T. Infant with trisomy 13 who developed acute elevation of intraocular pressure and glaucoma. Congenit Anom (Kyoto) 2020; 60(5): 151-152. <doi:10.1111/cga.12367>

https://www.ncbi.nlm.nih.gov/pubmed/31981267

 

Yatsuga S, Amano N, Nakamura-Utsunomiya A, Kobayashi H, Takasawa K, Nagasaki K, Nakamura A, Nishigaki S, Numakura C, Fujiwara I, Minamitani K, Hasegawa T, Tajima T. Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan. Endocr J 2020; 67(8): 853-857. <doi:10.1507/endocrj.EJ20-0011>

https://www.ncbi.nlm.nih.gov/pubmed/32321882

 

<免疫異常、膠原病、リウマチ性疾患、感染症>

Arai S, Yamanaka T, Kasai M, Fukuyama T, Aizawa Y, Matsui K, Sato M, Matsui H, Saitoh A. Parechovirus-A3 encephalitis presenting with focal seizure mimicking herpes simplex virus infection. J Infect Chemother 2020; 26(7): 736-740. <doi:10.1016/j.jiac.2020.02.003>

https://www.ncbi.nlm.nih.gov/pubmed/32201195

 

Azekawa S, Namkoong H, Mitamura K, Kawaoka Y, Saito F. Co-infection with SARS-CoV-2 and influenza A virus. IDCases 2020; 20e00775. <doi:10.1016/j.idcr.2020.e00775>

https://www.ncbi.nlm.nih.gov/pubmed/32368495

 

Fujimori K, Yamada M, Maekawa T, Yotani N, Tamura E I, Imadome K I, Kubota M, Ishiguro A. A case of neonatal cytomegalovirus infection with severe thrombocytopenia that was successfully managed with empiric antiviral therapy. IDCases 2020; 19e00675. <doi:10.1016/j.idcr.2019.e00675>

https://www.ncbi.nlm.nih.gov/pubmed/32226764

 

Funaki T, Fukuda A, Sakamoto S, Kasahara M, Saitoh A, Miyairi I. Serostatus following polio-containing vaccination before and after liver transplantation. Pediatr Transplant 2020; 24(6): e13766. <doi:10.1111/petr.13766>

https://www.ncbi.nlm.nih.gov/pubmed/32558028

 

Funaki T, Shoji K, Fukuda A, Sakamoto S, Kasahara M, Miyairi I. Safety of LAVs administered after pediatric LT. Pediatr Transplant 2020e13937. <doi:10.1111/petr.13937>

https://www.ncbi.nlm.nih.gov/pubmed/33314516

 

Gotoh Y, Shishido S, Hamasaki Y, Watarai Y, Hattori M, Miura K, Ishizuka K, Fujita N, Saito K, Nakagawa Y, Hotta K, Hataya H, Hamada R, Sato H, Kitayama H, Ishikura K, Honda M, Uemura O. Kidney function of Japanese children undergoing kidney transplant with preemptive therapy for cytomegalovirus infection. Transpl Infect Dis 2020; 22(3): e13271. <doi:10.1111/tid.13271>

https://www.ncbi.nlm.nih.gov/pubmed/32108410

 

Gu Y, Fujitomo Y, Soeda H, Nakahama C, Hasegawa N, Maesaki S, Maeda M, Matsumoto T, Miyairi I, Ohmagari N. A nationwide questionnaire survey of clinic doctors on antimicrobial stewardship in Japan. J Infect Chemother 2020; 26(2): 149-156. <doi:10.1016/j.jiac.2019.12.005>

https://www.ncbi.nlm.nih.gov/pubmed/31879188

 

Hagihara M, Ohara S, Ide S, Uchida T, Inoue M, Mitamura K. [Analysis of anti-SARS-CoV-2 IgG antibodies in hematologic patients with asymptomatic or mildly symptomatic COVID-19 infections]. Rinsho Ketsueki 2020; 61(10): 1459-1463. <doi:10.11406/rinketsu.61.1459>

https://www.ncbi.nlm.nih.gov/pubmed/33162440

 

Hosoba R, Makita S, Shiotsuka M, Kobayashi O, Nakano K, Muroya M, Okada N, Suzuki M, Ida H, Fukuhara S, Munakata W, Suzuki T, Maruyama D, Maeshima A M, Matsushita H, Yamamoto N, Ohe Y, Iwata S, Izutsu K. COVID-19 pneumonia in a patient with adult T-cell leukemia-lymphoma. J Clin Exp Hematop 2020; 60(4): 174-178. <doi:10.3960/jslrt.20030>

https://www.ncbi.nlm.nih.gov/pubmed/32879154

 

Imamura T, Shoji K, Kono N, Kubota M, Nishimura N, Ishiguro A, Miyairi I. Allele frequencies of Bordetella pertussis virulence-associated genes identified from pediatric patients with severe respiratory infections. J Infect Chemother 2020; 26(7): 765-768. <doi:10.1016/j.jiac.2020.02.016>

https://www.ncbi.nlm.nih.gov/pubmed/32334951

 

Kamei K, Miyairi I, Ishikura K, Ogura M, Shoji K, Arai K, Ito R, Kawai T, Ito S. Prospective study of live attenuated vaccines for patients receiving immunosuppressive agents. PLoS One 2020; 15(10): e0240217. <doi:10.1371/journal.pone.0240217> https://www.ncbi.nlm.nih.gov/pubmed/33002085

 

Kawamura Y, Toyoda Y, Ohnishi T, Hisatomi R, Higashino T, Nakayama A, Shimizu S, Yanagi M, Kamimaki I, Fujimaru R, Suzuki H, Shinomiya N, Takada T, Matsuo H. Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families. Rheumatology (Oxford) 2020; 59(12): 3988-3990. <doi:10.1093/rheumatology/keaa461>

https://www.ncbi.nlm.nih.gov/pubmed/33011794

 

Kimura N, Ohnishi T, Sato S, Uejima Y, Suganuma E. Immunoglobulin A vasculitis with intramuscular hemorrhage: a case report. Pediatr Int 2020; 62(11): 1292-1294. <doi:10.1111/ped.14329>

https://www.ncbi.nlm.nih.gov/pubmed/33063916

 

Kinoshita N, Komura M, Tsuzuki S, Shoji K, Miyairi I. The effect of preauthorization and prospective audit and feedback system on oral antimicrobial prescription for outpatients at a children’s hospital in Japan. J Infect Chemother 2020; 26(6): 582-587. <doi:10.1016/j.jiac.2020.01.013>

https://www.ncbi.nlm.nih.gov/pubmed/32088130

 

Kobari S, Kusakabe T, Momota M, Shibahara T, Hayashi T, Ozasa K, Morita H, Matsumoto K, Saito H, Ito S, Kuroda E, Ishii K J. IL-33 Is Essential for Adjuvant Effect of Hydroxypropyl-beta-Cyclodexrin on the Protective Intranasal Influenza Vaccination. Front Immunol 2020; 11360. <doi:10.3389/fimmu.2020.00360>

https://www.ncbi.nlm.nih.gov/pubmed/32210964

 

Kobayashi H, Takimoto T, Kitaoka H, Kijima T. Aerosol spread with use of high-flow nasal cannulae: a computational fluid dynamics analysis. J Hosp Infect 2020; 106(1): 204-205. <doi:10.1016/j.jhin.2020.06.010>

https://www.ncbi.nlm.nih.gov/pubmed/32544507

 

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