Publications 2021
【2021年】
<遺伝、染色体異常、先天奇形>
Abe K, Shimura T, Takenouchi T, Iwasaki Y W, Ishizu H, Uwamino Y, Uno S, Gotoh J, Tachikawa N, Takeuchi Y, Katayama J, Nozaki H, Fujii S, Seki S, Nakamura M, Uda K, Misumi T, Ishihara J, Yamada K, Kanai T, Murai S, Araki K, Ebihara T, Siomi H, Hasegawa N, Kitagawa Y, Amagai M, Suematsu M, Kosaki K. Identification of B.1.346 Lineage of SARS-CoV-2 in Japan: Genomic Evidence of Re-entry of Clade 20C. Keio J Med 2021; 70(2): 44-50. <doi:10.2302/kjm.2021-0005-OA>
https://www.ncbi.nlm.nih.gov/pubmed/33853975
Abe K, Ueki A, Urakawa Y, Kitago M, Yoshihama T, Nanki Y, Kitagawa Y, Aoki D, Kosaki K, Hirasawa A. Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report. Hered Cancer Clin Pract 2021; 19(1): 5. <doi:10.1186/s13053-020-00160-z>
https://www.ncbi.nlm.nih.gov/pubmed/33413558
Akasaka M, Kamei A, Tanifuji S, Asami M, Ito J, Mizuma K, Oyama K, Tokutomi T, Yamamoto K, Fukushima A, Takenouchi T, Uehara T, Suzuki H, Kosaki K. GNAO1 mutation-related severe involuntary movements treated with gabapentin. Brain Dev 2021; 43(4): 576-579. <doi:10.1016/j.braindev.2020.12.002>
https://www.ncbi.nlm.nih.gov/pubmed/33358199
Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev 2021; 43(3): 402-410. <doi:10.1016/j.braindev.2020.10.013>
https://www.ncbi.nlm.nih.gov/pubmed/33261925
Arae K, Ikutani M, Horiguchi K, Yamaguchi S, Okada Y, Sugiyama H, Orimo K, Morita H, Suto H, Okumura K, Taguchi H, Matsumoto K, Saito H, Sudo K, Nakae S. Interleukin-33 and thymic stromal lymphopoietin, but not interleukin-25, are crucial for development of airway eosinophilia induced by chitin. Sci Rep 2021; 11(1): 5913. <doi:10.1038/s41598-021-85277-4>
https://www.ncbi.nlm.nih.gov/pubmed/33723298
Biesecker L G, Adam M P, Alkuraya F S, Amemiya A R, Bamshad M J, Beck A E, Bennett J T, Bird L M, Carey J C, Chung B, Clark R D, Cox T C, Curry C, Dinulos M B P, Dobyns W B, Giampietro P F, Girisha K M, Glass I A, Graham J M, Jr., Gripp K W, Haldeman-Englert C R, Hall B D, Innes A M, Kalish J M, Keppler-Noreuil K M, Kosaki K, Kozel B A, Mirzaa G M, Mulvihill J J, Nowaczyk M J M, Pagon R A, Retterer K, Rope A F, Sanchez-Lara P A, Seaver L H, Shieh J T, Slavotinek A M, Sobering A K, Stevens C A, Stevenson D A, Tan T Y, Tan W H, Tsai A C, Weaver D D, Williams M S, Zackai E, Zarate Y A. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet 2021; 108(1): 8-15. <doi:10.1016/j.ajhg.2020.11.013>
https://www.ncbi.nlm.nih.gov/pubmed/33417889
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara K I, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. J Clin Endocrinol Metab 2021; 106(3): 802-813. <doi:10.1210/clinem/dgaa856>
https://www.ncbi.nlm.nih.gov/pubmed/33236057
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. J Hum Genet 2021; 66(11): 1121-1126. <doi:10.1038/s10038-021-00937-7>
https://www.ncbi.nlm.nih.gov/pubmed/34031513
Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3. Am J Med Genet A 2021; 185(4): 1113-1119. <doi:10.1002/ajmg.a.62084>
https://www.ncbi.nlm.nih.gov/pubmed/33506645
Higa M, Zaha A, Takushi A, Morishima N, Majikina T, Touma T, Shimabukuro M, Masuzaki H, Honda M, Hasegawa T. Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. Hum Genome Var 2021; 8(1): 6. <doi:10.1038/s41439-021-00138-w>
https://www.ncbi.nlm.nih.gov/pubmed/33536409
Hirata K, Okamoto N, Ichikawa C, Inoue S, Nozaki M, Banno K, Takenouchi T, Suzuki H, Kosaki K. Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. Am J Med Genet A 2021; 185(3): 866-870. <doi:10.1002/ajmg.a.62012>
https://www.ncbi.nlm.nih.gov/pubmed/33300650
Ishikawa T, Tamura E, Kasahara M, Uchida H, Higuchi M, Kobayashi H, Shimizu H, Ogawa E, Yotani N, Irie R, Kosaki R, Kosaki K, Uchiyama T, Onodera M, Kawai T. Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy. J Clin Immunol 2021; 41(5): 967-974. <doi:10.1007/s10875-021-00977-w>
https://www.ncbi.nlm.nih.gov/pubmed/33544357
Ishimori S, Ando T, Kikunaga K, Terano C, Sato M, Komaki F, Hamada R, Hamasaki Y, Araki Y, Gotoh Y, Nakanishi K, Nakazato H, Matsuyama T, Iijima K, Yoshikawa N, Ito S, Honda M, Ishikura K. Influenza virus vaccination in pediatric nephrotic syndrome significantly reduces rate of relapse and influenza virus infection as assessed in a nationwide survey. Sci Rep 2021; 11(1): 23305. <doi:10.1038/s41598-021-02644-x>
https://www.ncbi.nlm.nih.gov/pubmed/34857817
Isobe A, Maeda N, Fujita H, Banno S, Kageyama T, Hatabu N, Sato R, Suzuki E, Miharu M, Komiyama O, Nakashima M, Matsunaga T, Nishimura G, Yamazawa K. Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2. Am J Med Genet A 2021; 185(3): 952-954. <doi:10.1002/ajmg.a.62038>
https://www.ncbi.nlm.nih.gov/pubmed/33369046
Itano J, Tanimoto Y, Kimura G, Hamada N, Tanaka H, Ninomiya S, Kosaki K, Miyahara N, Maeda Y, Kiura K. Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents. Intern Med 2021; 60(5): 783-788. <doi:10.2169/internalmedicine.5493-20>
https://www.ncbi.nlm.nih.gov/pubmed/33229802
Ito N, Tsukamoto K, Taniguchi K, Takahashi K, Okamoto A, Aoki H, Otera-Takahashi Y, Kitagawa M, Ogata-Kawata H, Morita H, Hata K, Nakabayashi K. Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing. Reprod Med Biol 2021; 20(3): 352-360. <doi:10.1002/rmb2.12392>
https://www.ncbi.nlm.nih.gov/pubmed/34262404
Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin Epigenetics 2021; 13(1): 119. <doi:10.1186/s13148-021-01106-5>
https://www.ncbi.nlm.nih.gov/pubmed/34039421
Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa Y, Nakabayashi K, Fukami M, Kagami M. Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements. Clin Epigenetics 2021; 13(1): 134. <doi:10.1186/s13148-021-01121-6>
https://www.ncbi.nlm.nih.gov/pubmed/34193245
Kobayashi Y, Hirasawa A, Chiyoda T, Ueki A, Masuda K, Misu K, Kawaida M, Hayashi S, Kataoka F, Banno K, Kosaki K, Aoki D. Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution. Jpn J Clin Oncol 2021; 51(2): 213-217. <doi:10.1093/jjco/hyaa173>
https://www.ncbi.nlm.nih.gov/pubmed/33037428
Mitani Y, Fukuoka K, Mori M, Arakawa Y, Matsushita Y, Hibiya Y, Honda S, Kobayashi M, Tanami Y, Kanemura Y, Ichimura K, Nakazawa A, Kurihara J, Koh K. Clinical Aggressiveness of TP53-Wild Type Sonic Hedgehog Medulloblastoma With MYCN Amplification, Chromosome 17p Loss, and Chromothripsis. J Neuropathol Exp Neurol 2021; 80(2): 205-207. <doi:10.1093/jnen/nlaa124>
https://www.ncbi.nlm.nih.gov/pubmed/33367701
Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong P F, Kira R, Matsushita H B, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. J Hum Genet 2021; 66(11): 1061-1068. <doi:10.1038/s10038-021-00932-y>
https://www.ncbi.nlm.nih.gov/pubmed/33958710
Mori M, Kumada T, Inoue K, Nozaki F, Matsui K, Maruo Y, Yamada M, Suzuki H, Kosaki K, Shibata M. Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis. Brain Dev 2021; 43(6): 724-728. <doi:10.1016/j.braindev.2021.02.002>
https://www.ncbi.nlm.nih.gov/pubmed/33714664
Namkoong H, Omae Y, Asakura T, Ishii M, Suzuki S, Morimoto K, Kawai Y, Emoto K, Oler A J, Szymanski E P, Yoshida M, Matsuda S, Yagi K, Hase I, Nishimura T, Sasaki Y, Asami T, Shiomi T, Matsubara H, Shimada H, Hamamoto J, Jhun B W, Kim S Y, Huh H J, Won H H, Ato M, Kosaki K, Betsuyaku T, Fukunaga K, Kurashima A, Tettelin H, Yanai H, Mahasirimongkol S, Olivier K N, Hoshino Y, Koh W J, Holland S M, Tokunaga K, Hasegawa N, Nontuberculous M, Bronchiectasis – Japan Research C. Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease. Eur Respir J 2021; 58(2). <doi:10.1183/13993003.02269-2019>
https://www.ncbi.nlm.nih.gov/pubmed/33542050
Nishii R, Mizuno T, Rehling D, Smith C, Clark B L, Zhao X, Brown S A, Smart B, Moriyama T, Yamada Y, Ichinohe T, Onizuka M, Atsuta Y, Yang L, Yang W, Thomas P G, Stenmark P, Kato M, Yang J J. NUDT15 polymorphism influences the metabolism and therapeutic effects of acyclovir and ganciclovir. Nat Commun 2021; 12(1): 4181. <doi:10.1038/s41467-021-24509-7>
https://www.ncbi.nlm.nih.gov/pubmed/34234136
Nishina S, Hosono K, Ishitani S, Kosaki K, Yokoi T, Yoshida T, Tomita K, Fukami M, Saitsu H, Ogata T, Ishitani T, Hotta Y, Azuma N. Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. J Hum Genet 2021; 66(10): 1021-1027. <doi:10.1038/s10038-021-00909-x>
https://www.ncbi.nlm.nih.gov/pubmed/33640901
Noda K, Matsuda K, Yagishita S, Maeda K, Akiyama Y, Terada-Hirashima J, Matsushita H, Iwata S, Yamashita K, Atarashi Y, Watanabe S, Ide N, Yoshida T, Ohmagari N, Mitsuya H, Hamada A. A novel highly quantitative and reproducible assay for the detection of anti-SARS-CoV-2 IgG and IgM antibodies. Sci Rep 2021; 11(1): 5198. <doi:10.1038/s41598-021-84387-3>
https://www.ncbi.nlm.nih.gov/pubmed/33664294
Numabe H, Kosaki K. Prevalence of Hallermann-Streiff syndrome in a Japanese pediatric population. Pediatr Int 2021; 63(4): 474-475. <doi:10.1111/ped.14434>
https://www.ncbi.nlm.nih.gov/pubmed/33638210
Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. Neurol Sci 2021; 42(7): 2975-2978. <doi:10.1007/s10072-021-05152-y>
https://www.ncbi.nlm.nih.gov/pubmed/33704598
Pattanawong U, Putaporntip C, Kakino A, Yoshida N, Kobayashi S, Yanmanee S, Jongwutiwes S, Tachibana H. Analysis of D-A locus of tRNA-linked short tandem repeats reveals transmission of Entamoeba histolytica and E. dispar among students in the Thai-Myanmar border region of northwest Thailand. PLoS Negl Trop Dis 2021; 15(2): e0009188. <doi:10.1371/journal.pntd.0009188>
https://www.ncbi.nlm.nih.gov/pubmed/33600446
Saito M, Hirano D, Kobayashi H, Kosaki K, Miyata I. A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty. Pediatr Int 2021; 63(3): 338-339. <doi:10.1111/ped.14421>
https://www.ncbi.nlm.nih.gov/pubmed/33694307
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. Am J Med Genet A 2021; 185(3): 884-888. <doi:10.1002/ajmg.a.62020>
https://www.ncbi.nlm.nih.gov/pubmed/33369122
Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. Dev Med Child Neurol 2021; 63(1): 111-115. <doi:10.1111/dmcn.14666>
https://www.ncbi.nlm.nih.gov/pubmed/32895939
Shinya Y, Hiraide T, Momoi M, Goto S, Suzuki H, Katsumata Y, Kurebayashi Y, Endo J, Sano M, Fukuda K, Kosaki K, Kataoka M. TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension. J Am Heart Assoc 2021; 10(5): e019245. <doi:10.1161/JAHA.120.019245>
https://www.ncbi.nlm.nih.gov/pubmed/33586470
Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. Am J Med Genet A 2021; 185(4): 1182-1186. <doi:10.1002/ajmg.a.62054>
https://www.ncbi.nlm.nih.gov/pubmed/33381903
Takahashi Y, Kubota M, Kosaki R, Kosaki K, Ishiguro A. A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. Brain Dev 2021; 43(3): 464-469. <doi:10.1016/j.braindev.2020.11.008>
https://www.ncbi.nlm.nih.gov/pubmed/33272776
Takemori S, Tanigaki S, Nozu K, Yoshihashi H, Uchiumi Y, Sakaguchi K, Tsushima K, Kitamura A, Kobayashi C, Matsuhima M, Tajima A, Nagano C, Kobayashi Y. Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome. Eur J Med Genet 2021; 64(10): 104308. <doi:10.1016/j.ejmg.2021.104308>
https://www.ncbi.nlm.nih.gov/pubmed/34400373
Takenouchi T, Iwasaki Y W, Harada S, Ishizu H, Uwamino Y, Uno S, Osada A, Abe K, Hasegawa N, Murata M, Takebayashi T, Fukunaga K, Saya H, Kitagawa Y, Amagai M, Siomi H, Kosaki K. Clinical utility of SARS-CoV-2 whole genome sequencing in deciphering source of infection. Journal of Hospital Infection 2021; 10740-44. <doi:10.1016/j.jhin.2020.10.014>
https://dx.doi.org/10.1016/j.jhin.2020.10.014
Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. Am J Med Genet A 2021; 185(3): 999-1003. <doi:10.1002/ajmg.a.62027>
https://www.ncbi.nlm.nih.gov/pubmed/33382209
Tozawa T, Nishimura A, Ueno T, Shikata A, Taura Y, Yoshida T, Nakagawa N, Wada T, Kosugi S, Uehara T, Takenouchi T, Kosaki K, Chiyonobu T. Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants. Hum Genome Var 2021; 8(1): 4. <doi:10.1038/s41439-021-00136-y>
https://www.ncbi.nlm.nih.gov/pubmed/33500398
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo R S, Bertola D R, Kim C A, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu L H, Siew C G, Teik K W, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano S I, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat 2021; 42(1): 50-65. <doi:10.1002/humu.24129>
https://www.ncbi.nlm.nih.gov/pubmed/33131168
Ueda K, Araki A, Fujita A, Matsumoto N, Uehara T, Suzuki H, Takenouchi T, Kosaki K, Okamoto N. A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30. Hum Genome Var 2021; 8(1): 24. <doi:10.1038/s41439-021-00155-9>
https://www.ncbi.nlm.nih.gov/pubmed/34145223
Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. Am J Med Genet A 2021; 185(7): 2084-2093. <doi:10.1002/ajmg.a.62226>
https://www.ncbi.nlm.nih.gov/pubmed/33973697
Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. Am J Med Genet A 2021; 185(4): 1067-1075. <doi:10.1002/ajmg.a.62063>
https://www.ncbi.nlm.nih.gov/pubmed/33399274
Voisin N, Schnur R E, Douzgou S, Hiatt S M, Rustad C F, Brown N J, Earl D L, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate Y A, Hancarova M, Amor D J, Bebin E M, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper G M, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkolbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla O L, Hurst A C E, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalova D, Rhodes L, Sanders V R, Sedlacek Z, Seebacher H A, Sellars E A, Sirchia F, Takenouchi T, Tanaka A J, Taska-Tench H, Tonne E, Tveten K, Vitiello G, Vlckova M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung W K, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet 2021; 108(5): 857-873. <doi:10.1016/j.ajhg.2021.04.001>
https://www.ncbi.nlm.nih.gov/pubmed/33961779
Yamada M, Arimitsu T, Osada A, Kosaki K. Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks. Am J Med Genet A 2021; 185(9): 2821-2823. <doi:10.1002/ajmg.a.62137>
https://www.ncbi.nlm.nih.gov/pubmed/33605525
Yamada M, Arimitsu T, Suzuki H, Miwa T, Kosaki K. Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis. Childs Nerv Syst 2021. <doi:10.1007/s00381-021-05232-6>
https://www.ncbi.nlm.nih.gov/pubmed/34121137
Yamada M, Kubota K, Uchida A, Yagihashi T, Kawasaki M, Suzuki H, Uehara T, Takenouchi T, Kurosaka H, Kosaki K. Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder. Am J Med Genet A 2021; 185(5): 1544-1549. <doi:10.1002/ajmg.a.62132>
https://www.ncbi.nlm.nih.gov/pubmed/33619830
Yamada M, Ono M, Ishii T, Suzuki H, Uehara T, Takenouchi T, Kosaki K. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. Am J Med Genet A 2021; 185(6): 1836-1840. <doi:10.1002/ajmg.a.62152>
https://www.ncbi.nlm.nih.gov/pubmed/33650182
Yamada M, Suzuki H, Watanabe A, Uehara T, Takenouchi T, Mizuno S, Kosaki K. Role of chimeric transcript formation in the pathogenesis of birth defects. Congenit Anom (Kyoto) 2021; 61(3): 76-81. <doi:10.1111/cga.12400>
https://www.ncbi.nlm.nih.gov/pubmed/33118233
Yamada M, Yamaguchi Y, Uehara T, Yagihashi T, Kosaki K. Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability. Congenit Anom (Kyoto) 2021; 61(1): 30-32. <doi:10.1111/cga.12393>
https://www.ncbi.nlm.nih.gov/pubmed/32951261
Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D. Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome. Int Cancer Conf J 2021; 10(1): 6-10. <doi:10.1007/s13691-020-00449-9>
https://www.ncbi.nlm.nih.gov/pubmed/33489693
Zarate Y A, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki A E, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate C L, Sacoto M J G, Schnur R E, Morrow M M, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen A K, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants. Genet Med 2021; 23(6): 1050-1057. <doi:10.1038/s41436-020-01091-9>
https://www.ncbi.nlm.nih.gov/pubmed/33495529
<栄養障害、代謝性疾患、消化器疾患>
Hirata K, Okamoto N, Ichikawa C, Inoue S, Nozaki M, Banno K, Takenouchi T, Suzuki H, Kosaki K. Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. Am J Med Genet A 2021; 185(3): 866-870. <doi:10.1002/ajmg.a.62012>
https://www.ncbi.nlm.nih.gov/pubmed/33300650
Inokuchi M, Matsuo N, Takayama J I, Hasegawa T. Population-based waist circumference reference values in Japanese children (0-6 years): comparisons with Dutch, Swedish and Turkish preschool children. J Pediatr Endocrinol Metab 2021; 34(3): 349-356. <doi:10.1515/jpem-2020-0418>
https://www.ncbi.nlm.nih.gov/pubmed/33675207
Miyamoto R, Okuda M, Kikuchi S, Iwayama H, Hataya H, Okumura A. A nationwide questionnaire survey on accidental magnet ingestion in children in Japan. Acta Paediatr 2021; 110(1): 314-325. <doi:10.1111/apa.15428>
https://www.ncbi.nlm.nih.gov/pubmed/32568410
Wang Q, Morikawa Y, Ueno R, Tomita H, Ihara T, Hagiwara Y, Suzuki S, Kato M, Shimojima N, Hataya H. Prognosis of ultrasonographic low-grade pediatric appendicitis treated with supportive care. Surgery 2021; 170(1): 215-221. <doi:10.1016/j.surg.2021.02.066>
https://www.ncbi.nlm.nih.gov/pubmed/33836899
<血液疾患、腫瘍>
Aoki T, Takahashi H, Tanaka S, Shiba N, Hasegawa D, Iwamoto S, Terui K, Moritake H, Nakayama H, Shimada A, Koh K, Goto H, Kosaka Y, Saito A M, Horibe K, Kinoshita A, Tawa A, Taga T, Adachi S, Tomizawa D. Predisposition to prolonged neutropenia after chemotherapy for paediatric acute myeloid leukaemia is associated with better prognosis in the Japanese Paediatric Leukaemia/Lymphoma Study Group AML-05 study. Br J Haematol 2021; 193(1): 176-180. <doi:10.1111/bjh.16656>
https://www.ncbi.nlm.nih.gov/pubmed/32337716
Arakawa Y, Masutani S, Oshima K, Mitani Y, Mori M, Fukuoka K, Moriwaki K, Kato M, Taira K, Tanami Y, Nakazawa A, Koh K. Asian population may have a lower incidence of hip osteonecrosis in childhood acute lymphoblastic leukemia. Int J Hematol 2021; 114(2): 271-279. <doi:10.1007/s12185-021-03163-1>
https://www.ncbi.nlm.nih.gov/pubmed/34008044
Atsumi Y, Morikawa Y, Hataya H. Accuracy of shorter respiratory rate measurement times in the pediatric population. Pediatr Int 2021; 63(7): 764-769. <doi:10.1111/ped.14513>
https://www.ncbi.nlm.nih.gov/pubmed/33070406
Attarbaschi A, Carraro E, Ronceray L, Andres M, Barzilai-Birenboim S, Bomken S, Brugieres L, Burkhardt B, Ceppi F, Chiang A K S, Csoka M, Fedorova A, Jazbec J, Kabickova E, Loeffen J, Mellgren K, Miakova N, Moser O, Osumi T, Pourtsidis A, Rigaud C, Uyttebroeck A, Woessmann W, Pillon M, European Intergroup for Childhood Non-Hodgkin’s L, The International Berlin-Frankfurt-Munster Study G. Second malignant neoplasms after treatment of non-Hodgkin’s lymphoma-a retrospective multinational study of 189 children and adolescents. Leukemia 2021; 35(2): 534-549. <doi:10.1038/s41375-020-0841-x>
https://www.ncbi.nlm.nih.gov/pubmed/32393843
Baba K, Yoshida T, Shiotsuka M, Kobayashi O, Iwata S, Ohe Y. Rapid development of pulmonary Mycobacterium avium infection during chemoradiotherapy followed by durvalumab treatment in a locally advanced NSCLC patient. Lung Cancer 2021; 153182-183. <doi:10.1016/j.lungcan.2021.01.021>
https://www.ncbi.nlm.nih.gov/pubmed/33546908
Burkhardt B, Taj M, Garnier N, Minard-Colin V, Hazar V, Mellgren K, Osumi T, Fedorova A, Myakova N, Verdu-Amoros J, Andres M, Kabickova E, Attarbaschi A, Chiang A K S, Bubanska E, Donska S, Hjalgrim L L, Wachowiak J, Pieczonka A, Uyttebroeck A, Lazic J, Loeffen J, Buechner J, Niggli F, Csoka M, Krivan G, Palma J, Burke G a A, Beishuizen A, Koeppen K, Mueller S, Herbrueggen H, Woessmann W, Zimmermann M, Balduzzi A, Pillon M. Treatment and Outcome Analysis of 639 Relapsed Non-Hodgkin Lymphomas in Children and Adolescents and Resulting Treatment Recommendations. Cancers (Basel) 2021; 13(9). <doi:10.3390/cancers13092075>
https://www.ncbi.nlm.nih.gov/pubmed/33923026
Doki N, Toyosaki M, Shiratori S, Osumi T, Okada M, Kawakita T, Sawa M, Ishikawa T, Ueda Y, Yoshinari N, Nakahara S. An Open-Label, Single-Arm, Multicenter Study of Ibrutinib in Japanese Patients With Steroid-dependent/Refractory Chronic Graft-Versus-Host Disease. Transplant Cell Ther 2021; 27(10): 867 e861-867 e869. <doi:10.1016/j.jtct.2021.05.019>
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Funato M, Tsunematsu Y, Yamazaki F, Tamura C, Kumamoto T, Takagi M, Kato S, Sugimura H, Tamura K. Characteristics of Li-Fraumeni Syndrome in Japan; A Review Study by the Special Committee of JSHT. Cancer Sci 2021. <doi:10.1111/cas.14919>
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Hijiya N, Maschan A, Rizzari C, Shimada H, Dufour C, Goto H, Kang H J, Guinipero T, Karakas Z, Bautista F, Ducassou S, Yoo K H, Zwaan C M, Millot F, Patterson B, Samis J, Aimone P, Allepuz A, Titorenko K, Sosothikul D. A phase 2 study of nilotinib in pediatric patients with CML: long-term update on growth retardation and safety. Blood Adv 2021; 5(14): 2925-2934. <doi:10.1182/bloodadvances.2020003759>
https://www.ncbi.nlm.nih.gov/pubmed/34309636
Hiraki T, Fukuoka K, Mori M, Arakawa Y, Matsushita Y, Hibiya Y, Honda S, Kobayashi M, Tanami Y, Ichimura K, Hirato J, Kurihara J, Nakazawa A, Koh K. Application of Genome-Wide DNA Methylation Analysis to Differentiate a Case of Radiation-Induced Glioblastoma From Late-Relapsed Medulloblastoma. J Neuropathol Exp Neurol 2021; 80(6): 552-557. <doi:10.1093/jnen/nlab043>
https://www.ncbi.nlm.nih.gov/pubmed/33990838
Inoguchi T, Hamada R, Kubota W, Terano C, Harada R, Honda M, Yamaoka S, Yokokawa Y, Yuza Y, Hataya H. Successful High-dose Chemotherapy in Combination With Autologous Peripheral Blood Stem Cell Transplantation in an Anuric Child With Neuroblastoma. J Pediatr Hematol Oncol 2021. <doi:10.1097/MPH.0000000000002090>
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Ito A, Kobayashi K, Shiotsuka M, Sato T, Omura G, Matsumoto Y, Ikeda A, Sakai A, Eguchi K, Takano T, Matsumoto F, Kobayashi O, Iwata S, Yoshimoto S. Uniform infection screening allowed safe head and neck surgery during the coronavirus disease 2019 pandemic in Japan. Jpn J Clin Oncol 2021; 51(3): 400-407. <doi:10.1093/jjco/hyaa195>
https://www.ncbi.nlm.nih.gov/pubmed/33048119
Ito A, Osumi T, Fujimori K, Tomizawa D, Kato M, Tsuji S, Matsumoto K, Ishiguro A, Miyazaki O. Utility of emergent plain X-ray for childhood acute leukemia with bone pain. Pediatr Int 2021. <doi:10.1111/ped.14843>
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Iwafuchi H, Nakazawa A, Sekimizu M, Mori T, Osumi T, Iijima-Yamashita Y, Ohki K, Kiyokawa N, Fukano R, Saito A M, Horibe K, Kobayashi R, Lymphoma C, Pathology Committee of the Japanese Pediatric Leukemia/Lymphoma Study G. Clinicopathological features and prognostic significance of programmed death ligand 1 in pediatric ALK-positive anaplastic large cell lymphoma: results of the ALCL99 treatment in Japan. Hum Pathol 2021; 116112-121. <doi:10.1016/j.humpath.2021.07.011>
https://www.ncbi.nlm.nih.gov/pubmed/34363798
Kawabata K C, Zong H, Meydan C, Wyman S, Wouters B J, Sugita M, Goswami S, Albert M, Yip W, Roboz G J, Chen Z, Delwel R, Carroll M, Mason C E, Melnick A, Guzman M L. BCL6 maintains survival and self-renewal of primary human acute myeloid leukemia cells. Blood 2021; 137(6): 812-825. <doi:10.1182/blood.2019001745>
https://www.ncbi.nlm.nih.gov/pubmed/32911532
Keino D, Sudo A, Mizuno M, Sasaki K, Kinoshita A, Mori T. Diffuse Large B-Cell Lymphoma of the Trachea in a Child With Symptoms of Bronchial Asthma. J Pediatr Hematol Oncol 2021; 43(2): e187-e190. <doi:10.1097/MPH.0000000000001817>
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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 2021; 43(6): e864-e866. <doi:10.1097/MPH.0000000000001914>
https://www.ncbi.nlm.nih.gov/pubmed/32769561
Kobayashi Y, Hirasawa A, Chiyoda T, Ueki A, Masuda K, Misu K, Kawaida M, Hayashi S, Kataoka F, Banno K, Kosaki K, Aoki D. Retrospective evaluation of risk-reducing salpingo-oophorectomy for BRCA1/2 pathogenic variant carriers among a cohort study in a single institution. Jpn J Clin Oncol 2021; 51(2): 213-217. <doi:10.1093/jjco/hyaa173>
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Kumamoto T, Yamazaki F, Nakano Y, Tamura C, Tashiro S, Hattori H, Nakagawara A, Tsunematsu Y. Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1. Int J Clin Oncol 2021; 26(12): 2161-2178. <doi:10.1007/s10147-021-02011-w>
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Mitani Y, Arakawa Y, Mori M, Deguchi T, Koh K. A case of KMT2A-MLLT3 fusion-positive mature B-cell acute lymphoblastic leukemia. Pediatr Int 2021; 63(6): 719-722. <doi:10.1111/ped.14477>
https://www.ncbi.nlm.nih.gov/pubmed/33871895
Mitani Y, Fukuoka K, Mori M, Arakawa Y, Matsushita Y, Hibiya Y, Honda S, Kobayashi M, Tanami Y, Kanemura Y, Ichimura K, Nakazawa A, Kurihara J, Koh K. Clinical Aggressiveness of TP53-Wild Type Sonic Hedgehog Medulloblastoma With MYCN Amplification, Chromosome 17p Loss, and Chromothripsis. J Neuropathol Exp Neurol 2021; 80(2): 205-207. <doi:10.1093/jnen/nlaa124>
https://www.ncbi.nlm.nih.gov/pubmed/33367701
Nishii R, Mizuno T, Rehling D, Smith C, Clark B L, Zhao X, Brown S A, Smart B, Moriyama T, Yamada Y, Ichinohe T, Onizuka M, Atsuta Y, Yang L, Yang W, Thomas P G, Stenmark P, Kato M, Yang J J. NUDT15 polymorphism influences the metabolism and therapeutic effects of acyclovir and ganciclovir. Nat Commun 2021; 12(1): 4181. <doi:10.1038/s41467-021-24509-7>
https://www.ncbi.nlm.nih.gov/pubmed/34234136
Ono R, Ashiarai M, Hirabayashi S, Mizuki K, Hosoya Y, Yoshihara H, Ohtake J, Mori S, Manabe A, Hasegawa D. Ruxolitinib for hematopoietic cell transplantation-associated hemophagocytic lymphohistiocytosis. Int J Hematol 2021; 113(2): 297-301. <doi:10.1007/s12185-020-02999-3>
https://www.ncbi.nlm.nih.gov/pubmed/32979171
Sakurai Y, Sarashina T, Toriumi N, Hatakeyama N, Kanayama T, Imamura T, Osumi T, Ohki K, Kiyokawa N, Azuma H. B-Cell Precursor-Acute Lymphoblastic Leukemia With EBF1-PDGFRB Fusion Treated With Hematopoietic Stem Cell Transplantation and Imatinib: A Case Report and Literature Review. J Pediatr Hematol Oncol 2021; 43(1): e105-e108. <doi:10.1097/MPH.0000000000001743>
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Shima M, Nagao A, Taki M, Matsushita T, Oshida K, Amano K, Nagami S, Okada N, Maisawa S, Nogami K. Long-term safety and efficacy of emicizumab for up to 5.8 years and patients’ perceptions of symptoms and daily life: A phase 1/2 study in patients with severe haemophilia A. Haemophilia 2021; 27(1): 81-89. <doi:10.1111/hae.14205>
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Shinozawa K, Yada K, Kojima T, Nogami K, Taki M, Fukutake K, Yoshioka A, Shirahata A, Shima M, Study Group On J H I S. Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan. Thromb Haemost 2021; 121(5): 603-615. <doi:10.1055/s-0040-1721385>
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Shirai R, Osumi T, Sato-Otsubo A, Nakabayashi K, Mori T, Yoshida M, Yoshida K, Kohri M, Ishihara T, Yasue S, Imamura T, Endo M, Miyamoto S, Ohki K, Sanada M, Kiyokawa N, Ogawa S, Yoshioka T, Hata K, Takagi M, Kato M. Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken) 2021e1559. <doi:10.1002/cnr2.1559>
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Sugita M, Wilkes D C, Bareja R, Eng K W, Nataraj S, Jimenez-Flores R A, Yan L, De Leon J P, Croyle J A, Kaner J, Merugu S, Sharma S, Macdonald T Y, Noorzad Z, Panchal P, Pancirer D, Cheng S, Xiang J Z, Olson L, Van Besien K, Rickman D S, Mathew S, Tam W, Rubin M A, Beltran H, Sboner A, Hassane D C, Chiosis G, Elemento O, Roboz G J, Mosquera J M, Guzman M L. Targeting the epichaperome as an effective precision medicine approach in a novel PML-SYK fusion acute myeloid leukemia. NPJ Precis Oncol 2021; 5(1): 44. <doi:10.1038/s41698-021-00183-2>
https://www.ncbi.nlm.nih.gov/pubmed/34040147
Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. Am J Med Genet A 2021; 185(3): 999-1003. <doi:10.1002/ajmg.a.62027>
https://www.ncbi.nlm.nih.gov/pubmed/33382209
Tanaka R, Inoue K, Yamada Y, Yoshida M, Shima H, Ito J, Okita H, Miwa T, Kato M, Shimada H. A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review. J Neurooncol 2021; 154(2): 247-256. <doi:10.1007/s11060-021-03823-6>
https://www.ncbi.nlm.nih.gov/pubmed/34398431
Uchida E, Komori K, Kurata T, Taki M, Sakashita K. Prophylaxis Using a Mixture of Plasma-Derived Activated Factor VII and Factor X (pdFVIIa/FX) in a Patient with Hemophilia B Complicated by Inhibitors and Allergy to Factor IX Concentrates: A Case Report. Acta Haematol 2021; 144(3): 293-296. <doi:10.1159/000508722>
https://www.ncbi.nlm.nih.gov/pubmed/32702700
Utano T, Kato M, Sakamoto K, Osumi T, Matsumoto K, Tomizawa D, Matsumoto K, Yamatani A. Two-point blood sampling is sufficient and necessary to estimate the area under the concentration-time curve for intravenous busulfan in infants and young children. Pediatr Blood Cancer 2021; 68(8): e29069. <doi:10.1002/pbc.29069>
https://www.ncbi.nlm.nih.gov/pubmed/33881202
Yamada M, Funaki T, Shoji K, Miyairi I, Fukuda A, Sakamoto S, Imadome K I, Kasahara M. Do Not Delay: Safe Operation for Pediatric Living-donor Liver Transplantation Programs in the COVID-19 Era. Transplantation 2021; 105(3): e39-e40. <doi:10.1097/TP.0000000000003594>
https://www.ncbi.nlm.nih.gov/pubmed/33617209
Yamada M, Sakamoto K, Tomizawa D, Ishikawa Y, Matsui T, Gocho Y, Sakaguchi H, Kato M, Osumi T, Imadome K I. A Prospective Viral Monitoring Study After Pediatric Allogeneic Hematopoietic Stem Cell Transplantation for Malignant and Nonmalignant Diseases. Transplant Cell Ther 2021; 27(10): 872 e871-872 e878. <doi:10.1016/j.jtct.2021.07.014>
https://www.ncbi.nlm.nih.gov/pubmed/34298243
Yamada M, Sakamoto S, Sakamoto K, Uchida H, Shimizu S, Osumi T, Kato M, Shoji K, Arai K, Miyazaki O, Nakano N, Yoshioka T, Fukuda A, Kasahara M, Imadome K I. Fatal Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis with virus-infected T cells after pediatric multivisceral transplantation: A proof-of-concept case report. Pediatr Transplant 2021; 25(3): e13961. <doi:10.1111/petr.13961>
https://www.ncbi.nlm.nih.gov/pubmed/33368911
Yamada Y, Kobayashi D, Terashima K, Kiyotani C, Sasaki R, Michihata N, Kobayashi T, Ogiwara H, Matsumoto K, Ishiguro A. Initial symptoms and diagnostic delay in children with brain tumors at a single institution in Japan. Neurooncol Pract 2021; 8(1): 60-67. <doi:10.1093/nop/npaa062>
https://www.ncbi.nlm.nih.gov/pubmed/33664970
Yamazaki F, Yamasaki K, Kiyotani C, Hashii Y, Shioda Y, Hara J, Matsumoto K. Thiotepa-melphalan myeloablative therapy for high-risk neuroblastoma. Pediatr Blood Cancer 2021; 68(6): e28896. <doi:10.1002/pbc.28896>
https://www.ncbi.nlm.nih.gov/pubmed/33788375
Yoshida M, Nakabayashi K, Yang W, Sato-Otsubo A, Tsujimoto S I, Ogata-Kawata H, Kawai T, Ishiwata K, Sakamoto M, Okamura K, Yoshida K, Shirai R, Osumi T, Moriyama T, Nishii R, Takahashi H, Kiyotani C, Shioda Y, Terashima K, Ishimaru S, Yuza Y, Takagi M, Arakawa Y, Kinoshita A, Hino M, Imamura T, Hasegawa D, Nakazawa Y, Okuya M, Kakuda H, Takasugi N, Inoue A, Ohki K, Yoshioka T, Ito S, Tomizawa D, Koh K, Matsumoto K, Sanada M, Kiyokawa N, Ohara A, Ogawa S, Manabe A, Niwa A, Hata K, Yang J J, Kato M. NUDT15 variants confer high incidence of second malignancies in children with acute lymphoblastic leukemia. Blood Adv 2021; 5(23): 5420-5428. <doi:10.1182/bloodadvances.2021005507>
https://www.ncbi.nlm.nih.gov/pubmed/34662904
Yoshida M, Tomizawa D, Yoshimura S, Osumi T, Nakabayashi K, Ogata-Kawata H, Ishiwata K, Sato-Otsubo A, Kimura Y, Ito S, Matsumoto K, Deguchi T, Kiyokawa N, Yoshioka T, Hata K, Kato M. Genetic features of precursor B-cell phenotype Burkitt leukemia with IGH-MYC rearrangement. Cancer Rep (Hoboken) 2021e1545. <doi:10.1002/cnr2.1545>
https://www.ncbi.nlm.nih.gov/pubmed/34472720
Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D. Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome. Int Cancer Conf J 2021; 10(1): 6-10. <doi:10.1007/s13691-020-00449-9>
https://www.ncbi.nlm.nih.gov/pubmed/33489693
Yoshimura S, Mizuno T, Osumi T, Shioda Y, Kiyotani C, Terashima K, Deguchi T, Nakadate H, Kato M, Matsumoto K, Tomizawa D. Successful Umbilical Cord Blood Transplantation With Reduced-intensity Conditioning for Acute Myeloid Leukemia in a Child With Shwachman-Diamond Syndrome. J Pediatr Hematol Oncol 2021; 43(3): e414-e418. <doi:10.1097/MPH.0000000000001773>
https://www.ncbi.nlm.nih.gov/pubmed/32134838
<呼吸器疾患、アレルギー>
Akasaka M, Kamei A, Tanifuji S, Asami M, Ito J, Mizuma K, Oyama K, Tokutomi T, Yamamoto K, Fukushima A, Takenouchi T, Uehara T, Suzuki H, Kosaki K. GNAO1 mutation-related severe involuntary movements treated with gabapentin. Brain Dev 2021; 43(4): 576-579. <doi:10.1016/j.braindev.2020.12.002>
https://www.ncbi.nlm.nih.gov/pubmed/33358199
Arae K, Ikutani M, Horiguchi K, Yamaguchi S, Okada Y, Sugiyama H, Orimo K, Morita H, Suto H, Okumura K, Taguchi H, Matsumoto K, Saito H, Sudo K, Nakae S. Interleukin-33 and thymic stromal lymphopoietin, but not interleukin-25, are crucial for development of airway eosinophilia induced by chitin. Sci Rep 2021; 11(1): 5913. <doi:10.1038/s41598-021-85277-4>
https://www.ncbi.nlm.nih.gov/pubmed/33723298
Atsumi Y, Morikawa Y, Hataya H. Accuracy of shorter respiratory rate measurement times in the pediatric population. Pediatr Int 2021; 63(7): 764-769. <doi:10.1111/ped.14513>
https://www.ncbi.nlm.nih.gov/pubmed/33070406
Boonpiyathad T, Tantilipikorn P, Ruxrungtham K, Pradubpongsa P, Mitthamsiri W, Piedvache A, Thantiworasit P, Sirivichayakul S, Jacquet A, Suratannon N, Chatchatee P, Morisaki N, Saito H, Sangasapaviriya A, Matsumoto K, Morita H. IL-10-producing innate lymphoid cells increased in patients with house dust mite allergic rhinitis following immunotherapy. J Allergy Clin Immunol 2021; 147(4): 1507-1510 e1508. <doi:10.1016/j.jaci.2020.10.029>
https://www.ncbi.nlm.nih.gov/pubmed/33137358
Eljaszewicz A, Ruchti F, Radzikowska U, Globinska A, Boonpiyathad T, Gschwend A, Morita H, Helbling A, Arasi S, Kahlert H, Berek N, Nandy A, Akdis M, Willers C, Moniuszko M, Akdis C A, Sokolowska M. Trained immunity and tolerance in innate lymphoid cells, monocytes, and dendritic cells during allergen-specific immunotherapy. J Allergy Clin Immunol 2021; 147(5): 1865-1877. <doi:10.1016/j.jaci.2020.08.042>
https://www.ncbi.nlm.nih.gov/pubmed/33039478
Ikeda A, Ueda H, Matsui K, Iai M, Goto T. Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation. Pediatr Int 2021; 63(3): 352-354. <doi:10.1111/ped.14427>
https://www.ncbi.nlm.nih.gov/pubmed/33650128
Ikegawa K, Morikawa E, Nigo A, Hataya H, Akasawa A. Epidemiology of anaphylaxis and biphasic reaction in Japanese children. Acute Med Surg 2021; 8(1): e688. <doi:10.1002/ams2.688>
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Ishikawa T, Tamura E, Kasahara M, Uchida H, Higuchi M, Kobayashi H, Shimizu H, Ogawa E, Yotani N, Irie R, Kosaki R, Kosaki K, Uchiyama T, Onodera M, Kawai T. Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy. J Clin Immunol 2021; 41(5): 967-974. <doi:10.1007/s10875-021-00977-w>
https://www.ncbi.nlm.nih.gov/pubmed/33544357
Itano J, Tanimoto Y, Kimura G, Hamada N, Tanaka H, Ninomiya S, Kosaki K, Miyahara N, Maeda Y, Kiura K. Interstitial Pneumonia Secondary to Hermansky-Pudlak Syndrome Type 4 Treated with Different Antifibrotic Agents. Intern Med 2021; 60(5): 783-788. <doi:10.2169/internalmedicine.5493-20>
https://www.ncbi.nlm.nih.gov/pubmed/33229802
Ito N, Tsukamoto K, Taniguchi K, Takahashi K, Okamoto A, Aoki H, Otera-Takahashi Y, Kitagawa M, Ogata-Kawata H, Morita H, Hata K, Nakabayashi K. Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing. Reprod Med Biol 2021; 20(3): 352-360. <doi:10.1002/rmb2.12392>
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Kelleher M M, Cro S, Van Vogt E, Cornelius V, Lodrup Carlsen K C, Ove Skjerven H, Rehbinder E M, Lowe A, Dissanayake E, Shimojo N, Yonezawa K, Ohya Y, Yamamoto-Hanada K, Morita K, Cork M, Cooke A, Simpson E L, Mcclanahan D, Weidinger S, Schmitt J, Axon E, Tran L, Surber C, Askie L M, Duley L, Chalmers J R, Williams H C, Boyle R J. Skincare interventions in infants for preventing eczema and food allergy: A cochrane systematic review and individual participant data meta-analysis. Clin Exp Allergy 2021; 51(3): 402-418. <doi:10.1111/cea.13847>
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Kitaoka H, Kobayashi H, Takimoto T, Kijima T. Proposal of selective wedge instillation of pulmonary surfactant for COVID-19 pneumonia based on computational fluid dynamics simulation. BMC Pulm Med 2021; 21(1): 62. <doi:10.1186/s12890-021-01435-4>
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Maeda M, Imai T, Ishikawa R, Nakamura T, Kamiya T, Kimura A, Fujita S, Akashi K, Tada H, Morita H, Matsumoto K, Katsunuma T. Effect of oral immunotherapy in children with milk allergy: The ORIMA study. Allergol Int 2021; 70(2): 223-228. <doi:10.1016/j.alit.2020.09.011>
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Matsumoto K, Morita H, Nakae S. New insights into human atopic dermatitis provided by mouse models. J Allergy Clin Immunol 2021; 148(3): 722-724. <doi:10.1016/j.jaci.2021.07.016>
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Morita H. Immunological memory and allergic diseases. Allergol Int 2021; 70(2): 161-162. <doi:10.1016/j.alit.2021.03.001>
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Morita K, Yasudo H, Chiba T, Kitazawa H, Narita M, Yamamoto-Hanada K, Miyai M, Kishimoto J, Shibata M, Hibino T, Ohya Y. Seasonal variability of epidermal Bleomycin Hydrolase activity in healthy children and pediatric patients with atopic dermatitis. J Dermatol Sci 2021; 102(2): 137-139. <doi:10.1016/j.jdermsci.2021.03.007>
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Okuzumi S, Miyata J, Kabata H, Mochimaru T, Kagawa S, Masaki K, Irie M, Morita H, Fukunaga K. TLR7 Agonist Suppresses Group 2 Innate Lymphoid Cell-mediated Inflammation via IL-27-Producing Interstitial Macrophages. Am J Respir Cell Mol Biol 2021; 65(3): 309-318. <doi:10.1165/rcmb.2021-0042OC>
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Orimo K, Tamari M, Saito H, Matsumoto K, Nakae S, Morita H. Characteristics of tissue-resident ILCs and their potential as therapeutic targets in mucosal and skin inflammatory diseases. Allergy 2021; 76(11): 3332-3348. <doi:10.1111/all.14863>
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Osada A, Arimitsu T, Nakazaki H, Kin T, Kaburagi S, Morita K, Nakajima Y, Kitahara H, Takahashi H, Hida M. Severe drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms in a 1-month-old infant with trisomy 21. J Dermatol 2021; 48(10): E496-E497. <doi:10.1111/1346-8138.16042>
https://www.ncbi.nlm.nih.gov/pubmed/34184289
Sahiner U M, Layhadi J A, Golebski K, Istvan Komlosi Z, Peng Y, Sekerel B, Durham S R, Brough H, Morita H, Akdis M, Turner P, Nadeau K, Spits H, Akdis C, Shamji M H. Innate lymphoid cells: The missing part of a puzzle in food allergy. Allergy 2021; 76(7): 2002-2016. <doi:10.1111/all.14776>
https://www.ncbi.nlm.nih.gov/pubmed/33583026
Suzuki H, Tsutsumi Y, Morita H, Motomura K, Umehara N, Sago H, Ito Y, Arai K, Yoshioka T, Ohya Y, Saito H, Matsumoto K, Nomura I. Cord blood eosinophilia precedes neonatal onset of food-protein-induced enterocolitis syndrome (FPIES). Allergol Int 2021; 70(2): 262-265. <doi:10.1016/j.alit.2020.10.004>
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Toyama Y, Ishii T, Morita K, Tsumura Y, Takahashi T, Akashi M, Morita H. Multicenter retrospective study of patients with food protein-induced enterocolitis syndrome provoked by hen’s egg. J Allergy Clin Immunol Pract 2021; 9(1): 547-549 e541. <doi:10.1016/j.jaip.2020.09.065>
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Yamamoto M, Nagashima S, Yamada Y, Murakoshi T, Shimoyama Y, Takahashi S, Seki H, Kobayashi T, Hara Y, Tadaki H, Ishimura N, Ishihara S, Kinoshita Y, Morita H, Ohya Y, Saito H, Matsumoto K, Nomura I. Comparison of Nonesophageal Eosinophilic Gastrointestinal Disorders with Eosinophilic Esophagitis: A Nationwide Survey. J Allergy Clin Immunol Pract 2021; 9(9): 3339-3349 e3338. <doi:10.1016/j.jaip.2021.06.026>
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Yasui Y, Mitsui T, Arima F, Uchida K, Inokuchi M, Tokumura M, Nakayama T. Changes in epidemiological characteristics and sero-prevalence against the varicella zoster virus in school-age children after the introduction of a national immunization program in Japan. Hum Vaccin Immunother 20211-7. <doi:10.1080/21645515.2021.1890968>
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Yoshida M, Funata K, Koinuma G, Miyairi I. Plastic Bronchitis Associated with Influenza. J Pediatr 2021; 238336-337. <doi:10.1016/j.jpeds.2021.06.021>
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Yoshida M, Miyahara Y, Orimo K, Kono N, Narita M, Ohya Y, Matsumoto K, Nakagawa S, Ueki S, Morita H, Miyairi I. Eosinophil extracellular traps (EETs) in the casts of plastic bronchitis associated with influenza virus infection. Chest 2021. <doi:10.1016/j.chest.2021.05.001>
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Yoshida M, Miyahara Y, Orimo K, Kono N, Narita M, Ohya Y, Matsumoto K, Nakagawa S, Ueki S, Morita H, Miyairi I. Eosinophil Extracellular Traps in the Casts of Plastic Bronchitis Associated With Influenza Virus Infection. Chest 2021; 160(3): 854-857. <doi:10.1016/j.chest.2021.05.001>
https://www.ncbi.nlm.nih.gov/pubmed/33971146
<循環器疾患>
Azegami T, Uchida K, Arima F, Sato Y, Awazu M, Inokuchi M, Murai-Takeda A, Itoh H, Tokumura M, Mori M. Association of childhood anthropometric measurements and laboratory parameters with high blood pressure in young adults. Hypertens Res 2021; 44(6): 711-719. <doi:10.1038/s41440-021-00615-3>
https://www.ncbi.nlm.nih.gov/pubmed/33504993
Azegami T, Uchida K, Tokumura M, Mori M. Blood Pressure Tracking From Childhood to Adulthood. Front Pediatr 2021; 9785356. <doi:10.3389/fped.2021.785356>
https://www.ncbi.nlm.nih.gov/pubmed/34869128
Fujii T, Tomita H, Kobayashi T, Kato H, Sugiyama H, Mizukami A, Ueda H. Clinical trial of the CP stent for pulmonary artery stenosis: the first investigator-initiated clinical trial for pediatric interventional cardiology in Japan. Heart Vessels 2021; 36(2): 291-296. <doi:10.1007/s00380-020-01691-0>
https://www.ncbi.nlm.nih.gov/pubmed/32889644
Hayashi K, Hashiguchi A, Ikemiyagi M, Tokuyama H, Wakino S, Itoh H. Development of nephropathy in an adult patient after Fontan palliation for cyanotic congenital heart disease. CEN Case Rep 2021; 10(3): 354-358. <doi:10.1007/s13730-021-00573-2>
https://www.ncbi.nlm.nih.gov/pubmed/33476039
Iio K, Uda K, Hataya H, Yasui F, Honda T, Sanada T, Yamaji K, Kohara M, Itokawa M, Miura M. Kawasaki disease or Kawasaki-like disease: Influence of SARS-CoV-2 infections in Japan. Acta Paediatr 2021; 110(2): 600-601. <doi:10.1111/apa.15535>
https://www.ncbi.nlm.nih.gov/pubmed/32799392
Kodo K, Uchida K, Yamagishi H. Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases. Front Cardiovasc Med 2021; 8653244. <doi:10.3389/fcvm.2021.653244>
https://www.ncbi.nlm.nih.gov/pubmed/33796576
Kojima T, Kanai A, Yoshiba S, Kobayashi T, Sumitomo N. Efficacy and safety of tolvaptan after pediatric congenital heart disease surgery. Heart Vessels 2021; 36(5): 717-723. <doi:10.1007/s00380-020-01743-5>
https://www.ncbi.nlm.nih.gov/pubmed/33388911
Majumdar U, Yasuhara J, Garg V. In Vivo and In Vitro Genetic Models of Congenital Heart Disease. Cold Spring Harb Perspect Biol 2021; 13(4). <doi:10.1101/cshperspect.a036764>
https://www.ncbi.nlm.nih.gov/pubmed/31818859
Miura M, Ayusawa M, Fukazawa R, Hamada H, Ikeda S, Ito S, Kanai T, Kobayashi T, Suzuki H, Yamamura K, Miyata K, Yokoyama U, Ichida F, Mitani Y, Terai M. Guidelines for Medical Treatment of Acute Kawasaki Disease (2020 Revised Version). Journal of Pediatric Cardiology and Cardiac Surgery 2021; 5(1): 41-73. <doi:10.24509/jpccs.0501G1>
Miyamoto K, Inai K, Kobayashi T, Maeda J, Takatsuki S, Nakayama T, Furutani Y, Yamagishi H, Nakanishi T. Correction to: Outcomes of idiopathic pulmonary arterial hypertension in Japanese children: a retrospective cohort study. Heart Vessels 2021; 36(9): 1400. <doi:10.1007/s00380-021-01882-3>
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Miyamoto K, Inai K, Kobayashi T, Maeda J, Takatsuki S, Nakayama T, Furutani Y, Yamagishi H, Nakanishi T. Outcomes of idiopathic pulmonary arterial hypertension in Japanese children: a retrospective cohort study. Heart Vessels 2021; 36(9): 1392-1399. <doi:10.1007/s00380-021-01806-1>
https://www.ncbi.nlm.nih.gov/pubmed/33738606
Miyata K, Miura M, Kaneko T, Morikawa Y, Matsushima T, Sakakibara H, Misawa M, Kobayashi T, Yamagishi H. Evaluation of a Kawasaki Disease Risk Model for Predicting Coronary Artery Aneurysms in a Japanese Population: An Analysis of Post RAISE. J Pediatr 2021; 23796-101 e103. <doi:10.1016/j.jpeds.2021.06.022>
https://www.ncbi.nlm.nih.gov/pubmed/34147499
Miyata K, Miura M, Kaneko T, Morikawa Y, Sakakibara H, Matsushima T, Misawa M, Takahashi T, Nakazawa M, Tsuchihashi T, Yamashita Y, Obonai T, Chiga M, Hori N, Komiyama O, Yamagishi H. Risk Factors of Coronary Artery Abnormalities and Resistance to Intravenous Immunoglobulin Plus Corticosteroid Therapy in Severe Kawasaki Disease: An Analysis of Post RAISE. Circ Cardiovasc Qual Outcomes 2021; 14(2): e007191. <doi:10.1161/CIRCOUTCOMES.120.007191>
https://www.ncbi.nlm.nih.gov/pubmed/33541111
Morikawa Y, Sakakibara H, Kimiya T, Obonai T, Miura M, Tokyo Pediatric Clinical Research N. Live attenuated vaccine efficacy six months after intravenous immunoglobulin therapy for Kawasaki disease. Vaccine 2021; 39(39): 5680-5687. <doi:10.1016/j.vaccine.2021.07.097>
https://www.ncbi.nlm.nih.gov/pubmed/34452773
Ohnishi T, Sato S, Kinoshita K, Takei H, Furuichi M, Uejima Y, Kawano Y, Hara T, Suganuma E. A Case of Intravenous Immunoglobulin-Resistant Kawasaki Disease With Yersinia enterocolitica Enterocolitis Successfully Treated With Cefotaxime Following Infliximab and Cyclosporine. J Pediatric Infect Dis Soc 2021; 10(2): 225-226. <doi:10.1093/jpids/piaa034>
https://www.ncbi.nlm.nih.gov/pubmed/32328655
Otani A, Iio K, Uda K, Matsushima T, Sakakibara H, Hataya H. Kawasaki Disease Initially Presenting as Cervical Lymphadenopathy. J Clin Rheumatol 2021; 27(3): e88-e89. <doi:10.1097/RHU.0000000000001263>
https://www.ncbi.nlm.nih.gov/pubmed/31880603
Oyanagi T, Tomita K, Furuichi M, Shinjoh M, Yamagishi H. Successful resuscitation from SARS-CoV-2 infection in a child after Rastelli operation. Pediatr Int 2021; 63(6): 730-732. <doi:10.1111/ped.14479>
https://www.ncbi.nlm.nih.gov/pubmed/34089270
Saito K, Kuge R, Nagasawa T, Ohkura T, Miura M. QT prolongation is over-estimated by Bazett compared to Friderica in Japanese child and adolescent inpatients. Int Clin Psychopharmacol 2021; 36(5): 268-273. <doi:10.1097/YIC.0000000000000365>
https://www.ncbi.nlm.nih.gov/pubmed/34054113
Shinya Y, Hiraide T, Momoi M, Goto S, Suzuki H, Katsumata Y, Kurebayashi Y, Endo J, Sano M, Fukuda K, Kosaki K, Kataoka M. TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension. J Am Heart Assoc 2021; 10(5): e019245. <doi:10.1161/JAHA.120.019245>
https://www.ncbi.nlm.nih.gov/pubmed/33586470
Shoya K, Maeda J, Nagamine H, Shimotakahara A, Yoshimura Y, Saito O. Pulmonary Embolism in a Critically Ill Infant with Univentricular Parallel Circulation. Journal of Child Science 2021; 11(01): e212-e215. <doi:10.1055/s-0041-1733873>
Sumitomo N F, Kodo K, Maeda J, Miura M, Yamagishi H. Echocardiographic Left Ventricular Z-Score Utility in Predicting Pulmonary-Systemic Flow Ratio in Children With Ventricular Septal Defect or Patent Ductus Arteriosus. Circ J 2021; 86(1): 128-135. <doi:10.1253/circj.CJ-21-0559>
https://www.ncbi.nlm.nih.gov/pubmed/34657926
Takahashi T, Mizuno K. A case of Kawasaki disease complicated by acute onset Legg-Calve-Perthes disease. Pediatr Int 2021; 63(10): 1242-1243. <doi:10.1111/ped.14595>
https://www.ncbi.nlm.nih.gov/pubmed/34227700
Takasago S, Sakai A, Sugiyama M, Mizokami M, Hamada H, Ishizaka Y, Miyoshi-Akiyama T, Matsunaga A, Ueno M, Shichino H, Mizukami A. Case Report: Changes in Cytokine Kinetics During the Course of Disease in a Japanese Patient With Multisystem Inflammatory Syndrome in Children. Front Pediatr 2021; 9702318. <doi:10.3389/fped.2021.702318>
https://www.ncbi.nlm.nih.gov/pubmed/34368030
Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. Am J Med Genet A 2021; 185(3): 999-1003. <doi:10.1002/ajmg.a.62027>
https://www.ncbi.nlm.nih.gov/pubmed/33382209
Tsuchiya H, Sugiura K, Koyama Y, Ihara T. Conjunctival hemorrhage in infective endocarditis. Pediatr Int 2021; 63(3): 361-362. <doi:10.1111/ped.14555>
https://www.ncbi.nlm.nih.gov/pubmed/33730449
Yamagishi H. Cardiac Neural Crest. Cold Spring Harb Perspect Biol 2021; 13(1). <doi:10.1101/cshperspect.a036715>
https://www.ncbi.nlm.nih.gov/pubmed/32071091
Yasuhara J, Garg V. Genetics of congenital heart disease: a narrative review of recent advances and clinical implications. Transl Pediatr 2021; 10(9): 2366-2386. <doi:10.21037/tp-21-297>
https://www.ncbi.nlm.nih.gov/pubmed/34733677
Yasuhara J, Watanabe K, Takagi H, Sumitomo N, Kuno T. COVID-19 and multisystem inflammatory syndrome in children: A systematic review and meta-analysis. Pediatr Pulmonol 2021; 56(5): 837-848. <doi:10.1002/ppul.25245>
https://www.ncbi.nlm.nih.gov/pubmed/33428826
Yoshiba S, Kojima T, Oyanagi T, Toda K, Osada Y, Muraji S, Imamura T, Nakano S, Makita S, Kobayashi T, Sumitomo N. Late recovery of the cardiopulmonary exercise capacity after transcatheter amplatzer device closures for atrial septal defects in adults. Heart Vessels 2021; 36(5): 710-716. <doi:10.1007/s00380-020-01741-7>
https://www.ncbi.nlm.nih.gov/pubmed/33386922
<新生児疾患>
Akamatsu T, Sugiyama T, Oshima T, Aoki Y, Mizukami A, Goishi K, Shichino H, Kato N, Takahashi N, Goto Y I, Oka A, Itoh M. Lectin-Like Oxidized Low-Density Lipoprotein Receptor-1-Related Microglial Activation in Neonatal Hypoxic-Ischemic Encephalopathy: Morphologic Consideration. Am J Pathol 2021; 191(7): 1303-1313. <doi:10.1016/j.ajpath.2021.04.009>
https://www.ncbi.nlm.nih.gov/pubmed/33964218
Egami S, Suzuki C, Kurihara Y, Yamagami J, Kubo A, Funakoshi T, Nishie W, Matsumura K, Matsushima T, Kawaida M, Sakamoto M, Amagai M. Neonatal Linear IgA Bullous Dermatosis Mediated by Breast Milk-Borne Maternal IgA. JAMA Dermatol 2021; 157(9): 1107-1111. <doi:10.1001/jamadermatol.2021.2392>
https://www.ncbi.nlm.nih.gov/pubmed/34259802
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara K I, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. J Clin Endocrinol Metab 2021; 106(3): 802-813. <doi:10.1210/clinem/dgaa856>
https://www.ncbi.nlm.nih.gov/pubmed/33236057
Hida M. “How we evaluate” and “how we are evaluated”. Pediatr Int 2021; 63(7): 750. <doi:10.1111/ped.14719>
https://www.ncbi.nlm.nih.gov/pubmed/34219340
Hirata K, Okamoto N, Ichikawa C, Inoue S, Nozaki M, Banno K, Takenouchi T, Suzuki H, Kosaki K. Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. Am J Med Genet A 2021; 185(3): 866-870. <doi:10.1002/ajmg.a.62012>
https://www.ncbi.nlm.nih.gov/pubmed/33300650
Kasuga Y, Kawai T, Miyakoshi K, Saisho Y, Tamagawa M, Hasegawa K, Ikenoue S, Ochiai D, Hida M, Tanaka M, Hata K. Epigenetic Changes in Neonates Born to Mothers With Gestational Diabetes Mellitus May Be Associated With Neonatal Hypoglycaemia. Front Endocrinol (Lausanne) 2021; 12690648. <doi:10.3389/fendo.2021.690648>
https://www.ncbi.nlm.nih.gov/pubmed/34267729
Liang Z, Tian H, Yang H C, Arimitsu T, Takahashi T, Sassaroli A, Fantini S, Niu H, Minagawa Y, Tong Y. Tracking Brain Development From Neonates to the Elderly by Hemoglobin Phase Measurement Using Functional Near-Infrared Spectroscopy. IEEE J Biomed Health Inform 2021; 25(7): 2497-2509. <doi:10.1109/JBHI.2021.3053900>
https://www.ncbi.nlm.nih.gov/pubmed/33493123
Osada A, Arimitsu T, Nakazaki H, Kin T, Kaburagi S, Morita K, Nakajima Y, Kitahara H, Takahashi H, Hida M. Severe drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms in a 1-month-old infant with trisomy 21. J Dermatol 2021; 48(10): E496-E497. <doi:10.1111/1346-8138.16042>
https://www.ncbi.nlm.nih.gov/pubmed/34184289
Sotiropoulos J X, Kapadia V, Vento M, Rabi Y, Saugstad O D, Kumar R K, Schmolzer G M, Zhang H, Yuan Y, Lim G, Kusuda S, Arimitsu T, Nguyen T T, Kitsommart R, Yeo K T, Oei J L. Oxygen for the delivery room respiratory support of moderate-to-late preterm infants. An international survey of clinical practice from 21 countries. Acta Paediatr 2021; 110(12): 3261-3268. <doi:10.1111/apa.16091>
https://www.ncbi.nlm.nih.gov/pubmed/34473855
Tamaoka S, Osada A, Kin T, Arimitsu T, Hida M. Midodrine, an Oral Alpha-1 Adrenoreceptor Agonist, Successfully Treated Refractory Congenital Chylous Pleural Effusion and Ascites in a Neonate. Chest 2021; 159(4): e189-e191. <doi:10.1016/j.chest.2020.10.071>
https://www.ncbi.nlm.nih.gov/pubmed/34022016
Yamada M, Arimitsu T, Osada A, Kosaki K. Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks. Am J Med Genet A 2021; 185(9): 2821-2823. <doi:10.1002/ajmg.a.62137>
https://www.ncbi.nlm.nih.gov/pubmed/33605525
<神経・筋疾患、心身症>
Akamatsu T, Sugiyama T, Oshima T, Aoki Y, Mizukami A, Goishi K, Shichino H, Kato N, Takahashi N, Goto Y I, Oka A, Itoh M. Lectin-Like Oxidized Low-Density Lipoprotein Receptor-1-Related Microglial Activation in Neonatal Hypoxic-Ischemic Encephalopathy: Morphologic Consideration. Am J Pathol 2021; 191(7): 1303-1313. <doi:10.1016/j.ajpath.2021.04.009>
https://www.ncbi.nlm.nih.gov/pubmed/33964218
Akasaka M, Kamei A, Tanifuji S, Asami M, Ito J, Mizuma K, Oyama K, Tokutomi T, Yamamoto K, Fukushima A, Takenouchi T, Uehara T, Suzuki H, Kosaki K. GNAO1 mutation-related severe involuntary movements treated with gabapentin. Brain Dev 2021; 43(4): 576-579. <doi:10.1016/j.braindev.2020.12.002>
https://www.ncbi.nlm.nih.gov/pubmed/33358199
Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. Brain Dev 2021; 43(3): 402-410. <doi:10.1016/j.braindev.2020.10.013>
https://www.ncbi.nlm.nih.gov/pubmed/33261925
Baba S, Okanishi T, Homma Y, Yoshida T, Goto T, Fukasawa T, Kobayashi S, Kamei A, Fujii Y, Hino-Fukuyo N, Yamada K, Daida A, Kawawaki H, Hoshino H, Sejima H, Ishida Y, Okazaki T, Inui T, Kanai S, Motoi H, Itamura S, Nishimura M, Enoki H, Fujimoto A. Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series. Epilepsia Open 2021; 6(2): 402-412. <doi:10.1002/epi4.12497>
https://www.ncbi.nlm.nih.gov/pubmed/34095686
Hirata K, Okamoto N, Ichikawa C, Inoue S, Nozaki M, Banno K, Takenouchi T, Suzuki H, Kosaki K. Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. Am J Med Genet A 2021; 185(3): 866-870. <doi:10.1002/ajmg.a.62012>
https://www.ncbi.nlm.nih.gov/pubmed/33300650
Ikeda A, Ueda H, Matsui K, Iai M, Goto T. Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation. Pediatr Int 2021; 63(3): 352-354. <doi:10.1111/ped.14427>
https://www.ncbi.nlm.nih.gov/pubmed/33650128
Kanamori K, Sakaguchi Y, Tsuda K, Ihara S, Miyama S. Refractory cerebral infarction in a child with an ACTA2 mutation. Brain Dev 2021; 43(4): 585-589. <doi:10.1016/j.braindev.2020.12.001>
https://www.ncbi.nlm.nih.gov/pubmed/33342581
Kasai A, Shimizu J, Sato M, Kitamura M, Inaba Y, Motobayashi M. Reduced impact of viral load of HHV-6 in liquor on severity of AESD due to exanthema subitum: A case report and literature review. Brain Dev 2021. <doi:10.1016/j.braindev.2021.04.008>
https://www.ncbi.nlm.nih.gov/pubmed/33966937
Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi J I, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants. Brain Dev 2021; 43(4): 505-514. <doi:10.1016/j.braindev.2020.12.006>
https://www.ncbi.nlm.nih.gov/pubmed/33436160
Liang Z, Tian H, Yang H C, Arimitsu T, Takahashi T, Sassaroli A, Fantini S, Niu H, Minagawa Y, Tong Y. Tracking Brain Development from Neonates to the Elderly by Hemoglobin Phase Measurement using Functional Near-infrared Spectroscopy. IEEE J Biomed Health Inform 2021; PP. <doi:10.1109/JBHI.2021.3053900>
https://www.ncbi.nlm.nih.gov/pubmed/33493123
Miyamoto S, Kato M, Hiraide T, Shiohama T, Goto T, Hojo A, Ebata A, Suzuki M, Kobayashi K, Chong P F, Kira R, Matsushita H B, Ikeda H, Hoshino K, Matsufuji M, Moriyama N, Furuyama M, Yamamoto T, Nakashima M, Saitsu H. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies. J Hum Genet 2021; 66(11): 1061-1068. <doi:10.1038/s10038-021-00932-y>
https://www.ncbi.nlm.nih.gov/pubmed/33958710
Mizuguchi M, Ichiyama T, Imataka G, Okumura A, Goto T, Sakuma H, Takanashi J I, Murayama K, Yamagata T, Yamanouchi H, Fukuda T, Maegaki Y. Guidelines for the diagnosis and treatment of acute encephalopathy in childhood. Brain Dev 2021; 43(1): 2-31. <doi:10.1016/j.braindev.2020.08.001>
https://www.ncbi.nlm.nih.gov/pubmed/32829972
Mori M, Kumada T, Inoue K, Nozaki F, Matsui K, Maruo Y, Yamada M, Suzuki H, Kosaki K, Shibata M. Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis. Brain Dev 2021; 43(6): 724-728. <doi:10.1016/j.braindev.2021.02.002>
https://www.ncbi.nlm.nih.gov/pubmed/33714664
Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. Neurol Sci 2021; 42(7): 2975-2978. <doi:10.1007/s10072-021-05152-y>
https://www.ncbi.nlm.nih.gov/pubmed/33704598
Saito M, Hirano D, Kobayashi H, Kosaki K, Miyata I. A case of neuronal ceroid lipofuscinosis type 8 associated with central precocious puberty. Pediatr Int 2021; 63(3): 338-339. <doi:10.1111/ped.14421>
https://www.ncbi.nlm.nih.gov/pubmed/33694307
Sakaguchi Y, Yoshihashi H, Uehara T, Miyama S, Kosaki K, Takenouchi T. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. Am J Med Genet A 2021; 185(3): 884-888. <doi:10.1002/ajmg.a.62020>
https://www.ncbi.nlm.nih.gov/pubmed/33369122
Sakamoto Y, Takenouchi T, Miwa T, Kishi K. Assessment of long-term quality of life in patients with syndromic craniosynostosis. J Plast Reconstr Aesthet Surg 2021; 74(2): 336-340. <doi:10.1016/j.bjps.2020.08.102>
https://www.ncbi.nlm.nih.gov/pubmed/33039308
Sasaki M, Sumitomo N, Shimizu-Motohashi Y, Takeshita E, Kurosawa K, Kosaki K, Iwama K, Mizuguchi T, Matsumoto N. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. Dev Med Child Neurol 2021; 63(1): 111-115. <doi:10.1111/dmcn.14666>
https://www.ncbi.nlm.nih.gov/pubmed/32895939
Sasaki M, Takenouchi T, Sakaguchi Y, Takahashi T. Decisive evidence of direct effect of ACTH treatment in West syndrome: A case report. Seizure 2021; 9149-51. <doi:10.1016/j.seizure.2021.05.016>
https://www.ncbi.nlm.nih.gov/pubmed/34090146
Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. Am J Med Genet A 2021; 185(4): 1182-1186. <doi:10.1002/ajmg.a.62054>
https://www.ncbi.nlm.nih.gov/pubmed/33381903
Takahashi Y, Kubota M, Kosaki R, Kosaki K, Ishiguro A. A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants. Brain Dev 2021; 43(3): 464-469. <doi:10.1016/j.braindev.2020.11.008>
https://www.ncbi.nlm.nih.gov/pubmed/33272776
Takenouchi T, Kodo K, Yamazaki F, Nakatomi H, Kosaki K. Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. Am J Med Genet A 2021; 185(3): 999-1003. <doi:10.1002/ajmg.a.62027>
https://www.ncbi.nlm.nih.gov/pubmed/33382209
Tozawa T, Nishimura A, Ueno T, Shikata A, Taura Y, Yoshida T, Nakagawa N, Wada T, Kosugi S, Uehara T, Takenouchi T, Kosaki K, Chiyonobu T. Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants. Hum Genome Var 2021; 8(1): 4. <doi:10.1038/s41439-021-00136-y>
https://www.ncbi.nlm.nih.gov/pubmed/33500398
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo R S, Bertola D R, Kim C A, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu L H, Siew C G, Teik K W, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano S I, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat 2021; 42(1): 50-65. <doi:10.1002/humu.24129>
https://www.ncbi.nlm.nih.gov/pubmed/33131168
Voisin N, Schnur R E, Douzgou S, Hiatt S M, Rustad C F, Brown N J, Earl D L, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate Y A, Hancarova M, Amor D J, Bebin E M, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper G M, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkolbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla O L, Hurst A C E, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalova D, Rhodes L, Sanders V R, Sedlacek Z, Seebacher H A, Sellars E A, Sirchia F, Takenouchi T, Tanaka A J, Taska-Tench H, Tonne E, Tveten K, Vitiello G, Vlckova M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung W K, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet 2021; 108(5): 857-873. <doi:10.1016/j.ajhg.2021.04.001>
https://www.ncbi.nlm.nih.gov/pubmed/33961779
Yamada M, Ono M, Ishii T, Suzuki H, Uehara T, Takenouchi T, Kosaki K. Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. Am J Med Genet A 2021; 185(6): 1836-1840. <doi:10.1002/ajmg.a.62152>
https://www.ncbi.nlm.nih.gov/pubmed/33650182
<腎・泌尿器疾患、生殖器疾患>
Aoki Y, Satoh H, Sato A, Morizawa Y, Hamada R, Harada R, Muramatsu M, Hamasaki Y, Shishido S, Sakai K. Long-term outcomes of living-donor kidney transplant children weighing less than 15 kg: Comparison of the surgical approach. J Pediatr Urol 2021; 17(4): 542 e541-542 e548. <doi:10.1016/j.jpurol.2021.05.021>
https://www.ncbi.nlm.nih.gov/pubmed/34134945
Atsumi Y, Morikawa Y, Hataya H. Accuracy of shorter respiratory rate measurement times in the pediatric population. Pediatr Int 2021; 63(7): 764-769. <doi:10.1111/ped.14513>
https://www.ncbi.nlm.nih.gov/pubmed/33070406
Awazu M, Yamada M, Asada N, Hashiguchi A, Kosaki K, Matsumura K. A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis. CEN Case Rep 2021. <doi:10.1007/s13730-021-00640-8>
https://www.ncbi.nlm.nih.gov/pubmed/34435324
Awazu M, Yamaguchi Y, Nagata M, Miura M, Hida M. Caspase-3 regulates ureteric branching in mice via cell migration. Biochem Biophys Res Commun 2021; 55928-34. <doi:10.1016/j.bbrc.2021.04.081>
https://www.ncbi.nlm.nih.gov/pubmed/33932897
Azegami T, Uchida K, Arima F, Sato Y, Awazu M, Inokuchi M, Murai-Takeda A, Itoh H, Tokumura M, Mori M. Association of childhood anthropometric measurements and laboratory parameters with high blood pressure in young adults. Hypertens Res 2021; 44(6): 711-719. <doi:10.1038/s41440-021-00615-3>
https://www.ncbi.nlm.nih.gov/pubmed/33504993
Azegami T, Uchida K, Tokumura M, Mori M. Blood Pressure Tracking From Childhood to Adulthood. Front Pediatr 2021; 9785356. <doi:10.3389/fped.2021.785356>
https://www.ncbi.nlm.nih.gov/pubmed/34869128
Hayashi K, Hashiguchi A, Ikemiyagi M, Tokuyama H, Wakino S, Itoh H. Development of nephropathy in an adult patient after Fontan palliation for cyanotic congenital heart disease. CEN Case Rep 2021; 10(3): 354-358. <doi:10.1007/s13730-021-00573-2>
https://www.ncbi.nlm.nih.gov/pubmed/33476039
Honda M, Horiuchi H, Torii T, Nakajima A, Iijima T, Murano H, Yamanaka H, Ito S. Urate-lowering therapy for gout and asymptomatic hyperuricemia in the pediatric population: a cross-sectional study of a Japanese health insurance database. BMC Pediatr 2021; 21(1): 581. <doi:10.1186/s12887-021-03051-x>
https://www.ncbi.nlm.nih.gov/pubmed/34922491
Inoguchi T, Hamada R, Kubota W, Terano C, Harada R, Honda M, Yamaoka S, Yokokawa Y, Yuza Y, Hataya H. Successful High-dose Chemotherapy in Combination With Autologous Peripheral Blood Stem Cell Transplantation in an Anuric Child With Neuroblastoma. J Pediatr Hematol Oncol 2021; 43(8): e1156-e1158. <doi:10.1097/MPH.0000000000002090>
https://www.ncbi.nlm.nih.gov/pubmed/33625080
Ishimori S, Ando T, Kikunaga K, Terano C, Sato M, Komaki F, Hamada R, Hamasaki Y, Araki Y, Gotoh Y, Nakanishi K, Nakazato H, Matsuyama T, Iijima K, Yoshikawa N, Ito S, Honda M, Ishikura K. Influenza virus vaccination in pediatric nephrotic syndrome significantly reduces rate of relapse and influenza virus infection as assessed in a nationwide survey. Sci Rep 2021; 11(1): 23305. <doi:10.1038/s41598-021-02644-x>
https://www.ncbi.nlm.nih.gov/pubmed/34857817
Kuroda J, Harada R, Hamada R, Okuda Y, Yoshida Y, Hataya H, Nozu K, Iijima K, Honda M, Ishikura K. Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report. BMC Nephrol 2021; 22(1): 295. <doi:10.1186/s12882-021-02497-6>
https://www.ncbi.nlm.nih.gov/pubmed/34461850
Nagano C, Takaoka Y, Kamei K, Hamada R, Ichikawa D, Tanaka K, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Okada E, Horinouchi T, Yamamura T, Tsuji Y, Noguchi Y, Ishimori S, Nagase H, Ninchoji T, Iijima K, Nozu K. Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants. Kidney Int Rep 2021; 6(8): 2114-2121. <doi:10.1016/j.ekir.2021.05.009>
https://www.ncbi.nlm.nih.gov/pubmed/34386660
Ohnishi T, Mishima Y, Matsuda N, Sato D, Umino D, Yonezawa R, Kinoshita K, Tamura K, Mimura S, Ariji S, Maeda N, Ozaki K, Fukushima H, Arakuma T, Tsuchida S, Nishimoto H, Araki Y, Yoshida M, Tamame T, Suzuki S, Sekijima T, Kowase T, Takahashi K, Kamimaki I. Clinical characteristics of pediatric febrile urinary tract infection in Japan. Int J Infect Dis 2021; 10497-101. <doi:10.1016/j.ijid.2020.12.066>
https://www.ncbi.nlm.nih.gov/pubmed/33383218
Okuda Y, Hamada R, Uemura O, Sakai T, Sawai T, Harada R, Hamasaki Y, Ishikura K, Hataya H, Honda M. Mean of creatinine clearance and urea clearance examined over 1 h estimates glomerular filtration rate accurately and precisely in children. Nephrology (Carlton) 2021; 26(10): 763-771. <doi:10.1111/nep.13911>
https://www.ncbi.nlm.nih.gov/pubmed/34091977
Sato M, Ishikura K, Ando T, Kikunaga K, Terano C, Hamada R, Ishimori S, Hamasaki Y, Araki Y, Gotoh Y, Nakanishi K, Nakazato H, Matsuyama T, Iijima K, Yoshikawa N, Ito S, Honda M, Japanese Pediatric Survey Holding Information of Nephrotic Syndrome Study of the Japanese Study Group of Renal Disease In C. Prognosis and acute complications at the first onset of idiopathic nephrotic syndrome in children: a nationwide survey in Japan (JP-SHINE study). Nephrol Dial Transplant 2021; 36(3): 475-481. <doi:10.1093/ndt/gfz185>
https://www.ncbi.nlm.nih.gov/pubmed/31550360
Tao K, Awazu M, Honda M, Shibata H, Mori T, Uchida S, Hasegawa T, Ishii T. An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia. Endocrinol Diabetes Metab Case Rep 2021; 2021. <doi:10.1530/EDM-20-0189>
https://www.ncbi.nlm.nih.gov/pubmed/33899745
Uemura O, Ishikura K, Kaneko T, Hirano D, Hamasaki Y, Ogura M, Mikami N, Gotoh Y, Sahashi T, Fujita N, Yamamoto M, Hibino S, Nakano M, Wakano Y, Honda M. Perinatal factors contributing to chronic kidney disease in a cohort of Japanese children with very low birth weight. Pediatr Nephrol 2021; 36(4): 953-960. <doi:10.1007/s00467-020-04791-1>
https://www.ncbi.nlm.nih.gov/pubmed/33068163
Urushihara M, Sato H, Shimizu A, Sugiyama H, Yokoyama H, Hataya H, Matsuoka K, Okamoto T, Ogino D, Miura K, Hamada R, Hibino S, Shima Y, Yamamura T, Kitamoto K, Ishihara M, Konomoto T, Hattori M, The Committee for Renal B, Disease Registry of the Japanese Society Of N. Clinical and histological features in pediatric and adolescent/young adult patients with renal disease: a cross-sectional analysis of the Japan Renal Biopsy Registry (J-RBR). Clin Exp Nephrol 2021; 25(9): 1018-1026. <doi:10.1007/s10157-021-02077-w>
https://www.ncbi.nlm.nih.gov/pubmed/34047871
Wang Q, Morikawa Y, Ueno R, Tomita H, Ihara T, Hagiwara Y, Suzuki S, Kato M, Shimojima N, Hataya H. Prognosis of ultrasonographic low-grade pediatric appendicitis treated with supportive care. Surgery 2021; 170(1): 215-221. <doi:10.1016/j.surg.2021.02.066>
https://www.ncbi.nlm.nih.gov/pubmed/33836899
Yoshioka M, Kosaki K, Matsui M, Takahashi K, Shibata A, Oka K, Kuro O M, Saito C, Yamagata K, Maeda S. Physical Activity, Sedentary Behavior, and Skeletal Muscle Strength in Patients With Chronic Kidney Disease: An Isotemporal Substitution Approach. Phys Ther 2021; 101(7). <doi:10.1093/ptj/pzab101>
https://www.ncbi.nlm.nih.gov/pubmed/33774676
<先天代謝異常、内分泌疾患>
Abe K, Ueki A, Urakawa Y, Kitago M, Yoshihama T, Nanki Y, Kitagawa Y, Aoki D, Kosaki K, Hirasawa A. Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report. Hered Cancer Clin Pract 2021; 19(1): 5. <doi:10.1186/s13053-020-00160-z>
https://www.ncbi.nlm.nih.gov/pubmed/33413558
Adachi M, Muroya K, Hanakawa J, Asakura Y. Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of ‘HSCT-associated lipodystrophy’. Endocr J 2021; 68(4): 399-407. <doi:10.1507/endocrj.EJ20-0325>
https://www.ncbi.nlm.nih.gov/pubmed/33229817
Akiba K, Aso K, Hasegawa Y, Fukami M. Genome analyses and androgen quantification for an infant with 5alpha-reductase type 2 deficiency. J Pediatr Endocrinol Metab 2021; 34(9): 1191-1195. <doi:10.1515/jpem-2020-0678>
https://www.ncbi.nlm.nih.gov/pubmed/34162032
Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami M. Role of Liquid-Liquid Separation in Endocrine and Living Cells. J Endocr Soc 2021; 5(10): bvab126. <doi:10.1210/jendso/bvab126>
https://www.ncbi.nlm.nih.gov/pubmed/34396024
Azegami T, Uchida K, Arima F, Sato Y, Awazu M, Inokuchi M, Murai-Takeda A, Itoh H, Tokumura M, Mori M. Association of childhood anthropometric measurements and laboratory parameters with high blood pressure in young adults. Hypertens Res 2021; 44(6): 711-719. <doi:10.1038/s41440-021-00615-3>
https://www.ncbi.nlm.nih.gov/pubmed/33504993
Chen C, Yamanaka Y, Ueda K, Li P, Miyagi T, Harada Y, Tezuka S, Narumi S, Sugimoto M, Kuroda M, Hayamizu Y, Kanekura K. Phase separation and toxicity of C9orf72 poly(PR) depends on alternate distribution of arginine. J Cell Biol 2021; 220(11). <doi:10.1083/jcb.202103160>
https://www.ncbi.nlm.nih.gov/pubmed/34499080
Eguchi S, Ono R, Sato T, Yada K, Umehara N, Narumi S, Ichihashi Y, Nozaki T, Kanomata N, Hasegawa T, Ozawa M, Hasegawa D. Hereditary paraganglioma presenting with atypical symptoms: Case report. Medicine (Baltimore) 2021; 100(46): e27888. <doi:10.1097/MD.0000000000027888>
https://www.ncbi.nlm.nih.gov/pubmed/34797335
Fuke T, Nakamura A, Inoue T, Kawashima S, Hara K I, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum. J Clin Endocrinol Metab 2021; 106(3): 802-813. <doi:10.1210/clinem/dgaa856>
https://www.ncbi.nlm.nih.gov/pubmed/33236057
Gau M, Konishi K, Takasawa K, Nakagawa R, Tsuji-Hosokawa A, Hashimoto A, Sutani A, Tajima T, Hasegawa T, Morio T, Kashimada K. The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients. Clin Endocrinol (Oxf) 2021; 94(2): 229-236. <doi:10.1111/cen.14347>
https://www.ncbi.nlm.nih.gov/pubmed/33001476
Hanew K, Tanaka T, Horikawa R, Hasegawa T, Yokoya S. The current status of 492 adult women with Turner syndrome: a questionnaire survey by the Foundation for Growth Science. Endocr J 2021; 68(9): 1081-1089. <doi:10.1507/endocrj.EJ20-0617>
https://www.ncbi.nlm.nih.gov/pubmed/33907067
Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M. A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2. J Hum Genet 2021; 66(11): 1121-1126. <doi:10.1038/s10038-021-00937-7>
https://www.ncbi.nlm.nih.gov/pubmed/34031513
Higa M, Zaha A, Takushi A, Morishima N, Majikina T, Touma T, Shimabukuro M, Masuzaki H, Honda M, Hasegawa T. Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. Hum Genome Var 2021; 8(1): 6. <doi:10.1038/s41439-021-00138-w>
https://www.ncbi.nlm.nih.gov/pubmed/33536409
Inokuchi M, Matsuo N, Takayama J I, Hasegawa T. Population-based waist circumference reference values in Japanese children (0-6 years): comparisons with Dutch, Swedish and Turkish preschool children. J Pediatr Endocrinol Metab 2021; 34(3): 349-356. <doi:10.1515/jpem-2020-0418>
https://www.ncbi.nlm.nih.gov/pubmed/33675207
Itonaga T, Akiba K, Hasegawa Y. Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele. Clin Pediatr Endocrinol 2021; 30(4): 187-193. <doi:10.1297/cpe.30.187>
https://www.ncbi.nlm.nih.gov/pubmed/34629741
Izawa M, Hisamatsu E, Yoshino K, Yoshida M, Sato T, Narumi S, Hasegawa T, Hamajima T. Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor. Clin Pediatr Endocrinol 2021; 30(2): 99-104. <doi:10.1297/cpe.30.99>
https://www.ncbi.nlm.nih.gov/pubmed/33867670
Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin Epigenetics 2021; 13(1): 119. <doi:10.1186/s13148-021-01106-5>
https://www.ncbi.nlm.nih.gov/pubmed/34039421
Kawashima S, Hattori A, Suzuki E, Matsubara K, Toki M, Kosaki R, Hasegawa Y, Nakabayashi K, Fukami M, Kagami M. Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements. Clin Epigenetics 2021; 13(1): 134. <doi:10.1186/s13148-021-01121-6>
https://www.ncbi.nlm.nih.gov/pubmed/34193245
Kawashima-Sonoyama Y, Okuno K, Dohmoto T, Tanase-Nakao K, Narumi S, Namba N. The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms. Hum Genome Var 2021; 8(1): 27. <doi:10.1038/s41439-021-00158-6>
https://www.ncbi.nlm.nih.gov/pubmed/34253717
Ke S, Liu Y Y, Karthikraj R, Kannan K, Jiang J, Abe K, Milanesi A, Brent G A. Thyroid hormone receptor beta sumoylation is required for thyrotropin regulation and thyroid hormone production. JCI Insight 2021; 6(16). <doi:10.1172/jci.insight.149425>
https://www.ncbi.nlm.nih.gov/pubmed/34237030
Liu Y Y, Jiang J, Ke S, Milanesi A, Abe K, Gastelum G, Li J, Brent G A. Thyroid hormone receptor alpha sumoylation modulates white adipose tissue stores. Sci Rep 2021; 11(1): 24105. <doi:10.1038/s41598-021-03491-6>
https://www.ncbi.nlm.nih.gov/pubmed/34916557
Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, Shima H, Hasegawa T, Nonoyama S. Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome. J Clin Immunol 2021; 41(3): 709-711. <doi:10.1007/s10875-020-00964-7>
https://www.ncbi.nlm.nih.gov/pubmed/33423168
Miyagi T, Yamanaka Y, Harada Y, Narumi S, Hayamizu Y, Kuroda M, Kanekura K. An improved macromolecular crowding sensor CRONOS for detection of crowding changes in membrane-less organelles under stressed conditions. Biochem Biophys Res Commun 2021; 58329-34. <doi:10.1016/j.bbrc.2021.10.055>
https://www.ncbi.nlm.nih.gov/pubmed/34717122
Murashita M, Ito J, Hasegawa T. The first survey about women doctors in the Japanese Society for Pediatric Endocrinology (JSPE). Clin Pediatr Endocrinol 2021; 30(3): 121-126. <doi:10.1297/cpe.30.121>
https://www.ncbi.nlm.nih.gov/pubmed/34285453
Nishigaki S, Itonaga T, Hasegawa Y, Kawai M. Starting age of oestrogen-progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index. Clin Endocrinol (Oxf) 2021; 95(1): 84-91. <doi:10.1111/cen.14484>
https://www.ncbi.nlm.nih.gov/pubmed/33872421
Onuma S, Fukuoka T, Miyoshi Y, Fukui M, Satomura Y, Yasuda K, Kimura T, Tachibana M, Bessho K, Yamamoto T, Tanaka H, Katsumata N, Fukami M, Hasegawa T, Ozono K. Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood. Clin Pediatr Endocrinol 2021; 30(3): 143-148. <doi:10.1297/cpe.30.143>
https://www.ncbi.nlm.nih.gov/pubmed/34285457
Otakeyama-Kakimoto H, Ogiwara Y, Ota N, Shimomura S, Hasegawa Y. Rapid Hypercalciuria Induction With Bone Formation Marker Reduction During Immobilization in Children. Endocr Pract 2021; 27(10): 998-1003. <doi:10.1016/j.eprac.2021.05.009>
https://www.ncbi.nlm.nih.gov/pubmed/34098084
Padidela R, Whyte M P, Glorieux F H, Munns C F, Ward L M, Nilsson O, Portale A A, Simmons J H, Namba N, Cheong H I, Pitukcheewanont P, Sochett E, Hogler W, Muroya K, Tanaka H, Gottesman G S, Biggin A, Perwad F, Williams A, Nixon A, Sun W, Chen A, Skrinar A, Imel E A. Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia. Calcif Tissue Int 2021; 108(5): 622-633. <doi:10.1007/s00223-020-00797-x>
https://www.ncbi.nlm.nih.gov/pubmed/33484279
Sato T, Ishii T, Kato M, Oyanagi T, Nakatsuka S, Kuroda T, Hasegawa T. Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report. J Pediatr Endocrinol Metab 2021; 34(3): 407-410. <doi:10.1515/jpem-2020-0603>
https://www.ncbi.nlm.nih.gov/pubmed/33675205
Shima H, Tokuhiro E, Okamoto S, Nagamori M, Ogata T, Narumi S, Nakamura A, Izumi Y, Jinno T, Suzuki E, Fukami M. SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome. J Endocr Soc 2021; 5(7): bvab056. <doi:10.1210/jendso/bvab056>
https://www.ncbi.nlm.nih.gov/pubmed/34095692
Suda K, Fukuoka H, Iguchi G, Kanie K, Fujita Y, Odake Y, Matsumoto R, Bando H, Ito H, Takahashi M, Chihara K, Nagai H, Narumi S, Hasegawa T, Ogawa W, Takahashi Y. A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling. J Clin Endocrinol Metab 2021; 106(3): 718-723. <doi:10.1210/clinem/dgaa893>
https://www.ncbi.nlm.nih.gov/pubmed/33248444
Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. J Clin Endocrinol Metab 2021; 106(1): e265-e272. <doi:10.1210/clinem/dgaa772>
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<免疫異常、膠原病、リウマチ性疾患、感染症>
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