【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 forrare 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 Consortium. Clinical andGenetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associatedretinal 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
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
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
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 carriersof 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
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 ofvasculature 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 byballoon pulmonary angioplasty. Pulm Circ 2020; 10(4): 2045894020954310.
<doi:10.1177/2045894020954310>.
https://www.ncbi.nlm.nih.gov/pubmed/33240484
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/s41439-020-01071>.
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
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., NarutoT., 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., KanameT., 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 bypaternal 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
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: alphahuman papillomavirus infection in the evolving verruca. Int J Dermatol 2020; 59(9): e334e336. <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: Dualpathogenesis 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
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., InuiA., 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
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, andintellectual 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
Uehara T., Yamada M., Umetsu S., Nittono H., Suzuki H., Fujisawa T., Takenouchi T., InuiA., 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 inPreviously 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
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 amolecularly 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 theJapanese 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
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 Venoocclusive 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 PediatricHematology Oncology. Nationwide retrospective review of hematopoietic stem celltransplantation 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., AkashiTanaka 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 andyoung adults. Pediatr Blood Cancer 2020; 67(4): e28129. <doi:10.1002/pbc.28129>.
https://www.ncbi.nlm.nih.gov/pubmed/31876367
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 amultimodality approach in 117 Japanese Fanconi anemia patients. Haematologica 2020;
105(4): 1166-1167. <doi:10.3324/haematol.2019.245720>.
https://www.ncbi.nlm.nih.gov/pubmed/32238468
Ohki K., Takahashi H., Fukushima T., Nanmoku T., Kusano S., Mori M., Nakazawa Y., Yuza
Y., Migita M., Okuno H., Morimoto A., Yoshino H., Kato M., Hayashi Y., Manabe A., Ohara
A., Hasegawa D., Inukai T., Tomizawa D., Koh K., Kiyokawa N., Tokyo Children's Cancer
Study Group. Impact of immunophenotypic characteristics on genetic subgrouping inchildhood 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 andAntithymocyte 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 withliver failure due to the aggravation of biliary hepatopathy by secondary hemophagocytic
lymphohistiocytosis. Int J Hematol 2020; 112(6): 900-905. <doi:10.1007/s12185-02002949-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
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. Comparisonof clonazepam and levetiracetam in children for prevention of busulfan-induced seizure inhematopoietic 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 aChild 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>.
https://www.ncbi.nlm.nih.gov/pubmed/31820535
Yamanaka J., Shimizu M., Sato M., Inoue M., Matsui M., Shimada H., Shichino H. A Case ofChildhood Blastic Phase Chronic Myeloid Leukemia With Minor BCR-ABL. J Pediatr

Hematol Oncol 2020; 42(6): e459-e462. <doi:10.1097/MPH.0000000000001488>.
https://www.ncbi.nlm.nih.gov/pubmed/30994506
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 inpaediatric haematological disorders with monosomy 7. Br J Haematol 2020; 191(5): 835-843.
<doi:10.1111/bjh.17006>.
https://www.ncbi.nlm.nih.gov/pubmed/32770553
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 Transplantation. 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>.
https://www.ncbi.nlm.nih.gov/pubmed/31790827＜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 andstructural 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>.
https://www.ncbi.nlm.nih.gov/pubmed/32544507
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>.
https://www.ncbi.nlm.nih.gov/pubmed/32344057
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 decellularizedtracheal allografts in micro-miniature pigs at growing stage. Regen Ther 2020; 1564-69.
<doi:10.1016/j.reth.2020.04.010>.

https://www.ncbi.nlm.nih.gov/pubmed/33426203
Takahashi N., Fuchimoto Y., Mori T., Abe K., Yamada Y., Koinuma G., Kuroda T. Postesophageal atresia repair double acquired tracheoesophageal fistulas treated successfully by
gastric transposition: a case report. Surg Case Rep 2020; 6(1): 224. <doi:10.1186/s40792020-01004-7>.
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. Criticalrole 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 QTinterval in a pedigree of KCNH2 related long QT syndrome. J Arrhythm 2020; 36(1): 193196. <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 andstructural 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
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 ofvasculature 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
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＜神経・筋疾患、心身症＞
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
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
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

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: Dualpathogenesis 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 ofa 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
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
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, andintellectual 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
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 casereport. 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 kidneytransplantation: 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 withneurofibromatosis type 1. CEN Case Rep 2020; 9(3): 285-288. <doi:10.1007/s13730-02000470-0>.
https://www.ncbi.nlm.nih.gov/pubmed/32277359
Gotoh Y., Shishido S., Hamasaki Y., Watarai Y., Hattori M., Miura K., Ishizuka K., FujitaN., 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 transplantwith 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 Nephrology. 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 crosssectional 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., ResearchConsortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan, Baek J., Kang
H. G., Ha I. S., Han K. H., Yang E. M., Korean Consortium of Hereditary Renal Diseases inChildren, Abeyagunawardena A., Lane B., Chryst-Stangl M., Esezobor C., Solarin A.,
Midwest Pediatric Nephrology Consortium, Dossier C., Deschenes G., Nephrovir, VivarelliM., 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 withchildhood 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
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 categoryof 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 Betalactamase-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 approachto 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
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 metabolicand 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 girlwith 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., AdachiM., 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): 641654. <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 inmaternal 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 byliquid 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 inthree 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 acuteelevation of intraocular pressure and glaucoma. Congenit Anom (Kyoto) 2020; 60(5): 151152. <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 inJapan. 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 SARSCoV-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 thatwas 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
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
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 patientwith 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 pediatricpatients 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
Kimura N., Ohnishi T., Sato S., Uejima Y., Suganuma E. Immunoglobulin A vasculitis withintramuscular 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 andprospective audit and feedback system on oral antimicrobial prescription for outpatients at achildren'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 Effectof 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
Kondo T., Okabayashi K., Sugiura K., Obara H., Takeuchi H., Wada N., Takano Y., Iwata
S., Hasegawa N., Kitagawa Y. Effectiveness of active nasal surveillance culture forMethicillin-resistant Staphylococcus aureus in patients undergoing colorectal surgery. J

Infect Chemother 2020; 26(12): 1244-1248. <doi:10.1016/j.jiac.2020.06.013>.
https://www.ncbi.nlm.nih.gov/pubmed/32861579
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

Mitake H., Yasuhara A., Lopes T. J. S., Tagawa-Sakai Y., Shimizu K., Ozawa H., KawakamiC., Morikawa S., Sugaya N., Watanabe T., Kawaoka Y. Comparison of the Pathogenicity inMice of A(H1N1)pdm09 Viruses Isolated between 2009 and 2015 in Japan. Viruses 2020;12(2). <doi:10.3390/v12020155>.
https://www.ncbi.nlm.nih.gov/pubmed/32013144
Mitamura K., Shimizu H., Yamazaki M., Ichikawa M., Abe T., Yasumi Y., Ichikawa Y.,
Shibata T., Yoshihara M., Shiozaki K., Baba S., Kudo Y., Tokushima M., Konomi Y.,
Kawakami C. Clinical evaluation of ID NOW influenza A & B 2, a rapid influenza virus
detection kit using isothermal nucleic acid amplification technology - A comparison withcurrently available tests. J Infect Chemother 2020; 26(2): 216-221.
<doi:10.1016/j.jiac.2019.08.015>.
https://www.ncbi.nlm.nih.gov/pubmed/31558351
Miyairi I., Shoji K., Kinoshita N., Saitoh J., Sugahara Y., Watanabe Y., Komura M., Kasai
M., Horikoshi Y., Shinjoh M., Igarashi T., Pediatric Infection Control Network for theJapanese Association of Children's Hospitals Related Institutions. Prospective monitoring of
carbapenem use and pseudomonal resistance across pediatric institutions. Infect Control

Hosp Epidemiol 2020; 41(9): 1042-1047. <doi:10.1017/ice.2020.234>.
https://www.ncbi.nlm.nih.gov/pubmed/32484118
Morozumi M., Tajima T., Sakuma M., Shouji M., Meguro H., Saito K., Iwata S., Ubukata K.
Sequence Type Changes Associated with Decreasing Macrolide-Resistant Mycoplasma
pneumoniae, Japan. Emerg Infect Dis 2020; 26(9): 2210-2213.
<doi:10.3201/eid2609.191575>.
https://www.ncbi.nlm.nih.gov/pubmed/32818419
Noel K. C., Papenburg J., Lacroix J., Quach C., O'Donnell S., Gonzales M., Willson D. F.,
Gilfoyle E., McNally J. D., Reynolds S., Kazzaz Y., Kawaguchi A., Sato M., Kongkiattikul L.,
Leteurtre S., Dubos F., Karaca Y., Chiusolo F., Piva J., Dendukuri N., Fontela P. S.,
Canadian Critical Care Trials Group, the Pediatric Lung Injury, Sepsis Investigators
Network. International Survey on Determinants of Antibiotic Duration and Discontinuation in
Pediatric Critically Ill Patients. Pediatr Crit Care Med 2020; 21(9): e696-e706.
<doi:10.1097/PCC.0000000000002397>.
https://www.ncbi.nlm.nih.gov/pubmed/32639469

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., Kamimaki I., Kobayashi R., Nakatogawa K., Amemiya A., Mishima Y., Asato S.,
Shikoro N., Nakazawa M. Verification of blood volume for blood culture and detection rate inpediatrics. J Infect Chemother 2020; 26(5): 471-474. <doi:10.1016/j.jiac.2019.12.008>.
https://www.ncbi.nlm.nih.gov/pubmed/31899078
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 Betalactamase-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
Okubo Y., Michihata N., Uda K., Kinoshita N., Horikoshi Y., Miyairi I. Impacts of Primary
Care Physician System on Healthcare Utilization and Antibiotic Prescription: Difference-inDifferences and Causal Mediation Analyses. Pediatr Infect Dis J 2020; 39(10): 937-942.
<doi:10.1097/INF.0000000000002762>.
https://www.ncbi.nlm.nih.gov/pubmed/32502123
Okubo Y., Uda K., Kinoshita N., Horikoshi Y., Miyairi I., Michihata N., Matsui H., Fushimi
K., Yasunaga H. National trends in appropriate antibiotics use among pediatric inpatientswith uncomplicated lower respiratory tract infections in Japan. J Infect Chemother 2020;26(11): 1122-1128. <doi:10.1016/j.jiac.2020.04.025>.
https://www.ncbi.nlm.nih.gov/pubmed/32792248
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
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 andAntithymocyte 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
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 inasthma, 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
Saito J., Shoji K., Oho Y., Aoki S., Matsumoto S., Yoshida M., Nakamura H., Kaneko Y.,
Hayashi T., Yamatani A., Capparelli E., Miyairi I. Meropenem pharmacokinetics during
extracorporeal membrane oxygenation and continuous haemodialysis: a case report. J Glob

Antimicrob Resist 2020; 22651-655. <doi:10.1016/j.jgar.2020.04.029>.
https://www.ncbi.nlm.nih.gov/pubmed/32417590
Saitoh A., Saitoh A., Katsuta T., Mine M., Kamiya H., Miyairi I., Ishiwada N., Oshiro M.,
Kira R., Shimizu N., Suga S., Tsugawa T., Fujioka M., Miyazaki C., Morioka I., KorematsuS., Nakano T., Tanaka-Taya K., Yoshikawa T., Iwata S., Kusuhara K., Azuma H., Moriuchi
H., Okabe N., Hosoya M., Tsutsumi H., Okada K. Effect of a vaccine information statement(VIS) on immunization status and parental knowledge, attitudes, and beliefs regarding infant
immunization in Japan. Vaccine 2020; 38(50): 8049-8054.
<doi:10.1016/j.vaccine.2020.10.049>.
https://www.ncbi.nlm.nih.gov/pubmed/33139133
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

Sasaki J., Shiino Y., Kato Y., Kudo D., Fujita M., Miyairi I., Mochizuki T., Okuda H.,
Nagato T., Nabetani Y., Takahashi T., Committee for Infection Control in the Emergency
Department Joint Working Group. Checklist for infection control in the emergency
department. Acute Med Surg 2020; 7(1): e540. <doi:10.1002/ams2.540>.
https://www.ncbi.nlm.nih.gov/pubmed/33364033
Sato S., Ohnishi T., Uejima Y., Furuichi M., Fujinaga S., Imai K., Nakamura K., Kawano Y.,
Suganuma E. Induction therapy with rituximab for lupus nephritis due to prolidase deficiency.

Rheumatology (Oxford) 2020; 59(10): e57-e59. <doi:10.1093/rheumatology/keaa051>.
https://www.ncbi.nlm.nih.gov/pubmed/32107546
Seki Y., Oda Y., Sugaya N. Very high sensitivity of a rapid influenza diagnostic test in adults
and elderly individuals within 48 hours of the onset of illness. PLoS One 2020; 15(5):e0231217. <doi:10.1371/journal.pone.0231217>.
https://www.ncbi.nlm.nih.gov/pubmed/32374728
Shinjoh M., Yamaguchi Y., Furuichi M., Yaginuma M., Takahashi T., Iwata S. Recent trends
in pediatric bacterial meningitis in Japan, 2016-2018 - S. agalactiae has been the mostcommon pathogen. J Infect Chemother 2020; 26(10): 1033-1041.
<doi:10.1016/j.jiac.2020.05.018>.
https://www.ncbi.nlm.nih.gov/pubmed/32546331
Shoji K., Michihata N., Miyairi I., Matsui H., Fushimi K., Yasunaga H. Recent epidemiologyof Pneumocystis pneumonia in Japan. J Infect Chemother 2020; 26(12): 1260-1264.
<doi:10.1016/j.jiac.2020.07.006>.
https://www.ncbi.nlm.nih.gov/pubmed/32753118
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, andperspectives-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
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
Suzuki J., Kobayashi S., Yoshida N., Azuma Y., Kobayashi-Ogata N., Kartikasari D. P.,
Yanagawa Y., Iwata S. Phylogenetic position of Nyctotherus teleacus isolated from a tortoise(Astrochelys radiata) and its electron microscopic features. J Vet Med Sci 2020; 82(6): 699703. <doi:10.1292/jvms.20-0004>.
https://www.ncbi.nlm.nih.gov/pubmed/32336700
Takashita E., Abe T., Morita H., Nagata S., Fujisaki S., Miura H., Shirakura M., Kishida N.,
Nakamura K., Kuwahara T., Mitamura K., Ichikawa M., Yamazaki M., Watanabe S.,
Hasegawa H., Influenza Virus Surveillance Group of Japan. Influenza A(H1N1)pdm09 virus
exhibiting reduced susceptibility to baloxavir due to a PA E23K substitution detected from achild without baloxavir treatment. Antiviral Res 2020; 180104828.
<doi:10.1016/j.antiviral.2020.104828>.
https://www.ncbi.nlm.nih.gov/pubmed/32574689
Tamaoka S., Shindo J., Tsuchihashi T., Bamba M., Iwata S. A 9-year-old boy with a sinusrelated epidural abscess caused by Listeria monocytogenes. Pediatr Int 2020; 62(4): 502503. <doi:10.1111/ped.14111>.
https://www.ncbi.nlm.nih.gov/pubmed/32307827
Taniyama Y., Shoji K., Hashimoto M., Ishuguro A., Miyairi I. Impact of the 3-day rule forstool culture in a children's hospital. Pediatr Int 2020; 62(2): 246-247.
<doi:10.1111/ped.14100>.
https://www.ncbi.nlm.nih.gov/pubmed/32104991
Terada A., Ohnishi T., Mishima Y., Akiyama N., Kanna Y., Asato S., Tomita M., Ikemiyagi
M., Shikoro N., Nakazawa M., Kurihara N., Tado M., Yachie A., Kamimaki I. One-month-old
boy with group B streptococcal meningitis, subdural effusion, and high levels of interleukin-6.

J Infect Chemother 2020; 26(10): 1090-1094. <doi:10.1016/j.jiac.2020.06.017>.
https://www.ncbi.nlm.nih.gov/pubmed/32646818
Ubukata K., Wajima T., Morozumi M., Sakuma M., Tajima T., Matsubara K., Itahashi K.,
Iwata S. Changes in epidemiologic characteristics and antimicrobial resistance ofStreptococcus pyogenes isolated over 10 years from Japanese children withpharyngotonsillitis. J Med Microbiol 2020; 69(3): 443-450. <doi:10.1099/jmm.0.001158>.
https://www.ncbi.nlm.nih.gov/pubmed/32011228
Uda K., Funaki T., Shoji K., Kato A., Miyairi I. High proportion of multidrug-resistantorganisms in children hospitalized abroad. Am J Infect Control 2020; 48(5): 578-580.
<doi:10.1016/j.ajic.2019.08.013>.
https://www.ncbi.nlm.nih.gov/pubmed/31519478
Uda K., Uehara Y., Morimoto Y., Hiramatsu K., Miyairi I. A Pediatric Case of Septic
Arthritis Caused by Methicillin-Resistant Staphylococcus aureus with Panton-Valentine
Leukocidin and Toxic Shock Syndrome Toxin-1. Jpn J Infect Dis 2020; 73(3): 259-262.
<doi:10.7883/yoken.JJID.2019.436>.
https://www.ncbi.nlm.nih.gov/pubmed/32350217
Uehara T., Hayden F. G., Kawaguchi K., Omoto S., Hurt A. C., De Jong M. D., Hirotsu N.,
Sugaya N., Lee N., Baba K., Shishido T., Tsuchiya K., Portsmouth S., Kida H. TreatmentEmergent Influenza Variant Viruses With Reduced Baloxavir Susceptibility: Impact on
Clinical and Virologic Outcomes in Uncomplicated Influenza. J Infect Dis 2020; 221(3): 346355. <doi:10.1093/infdis/jiz244>.
https://www.ncbi.nlm.nih.gov/pubmed/31309975
Yaginuma M., Sato T., Yuki K., Hasegawa T. Infant with trisomy 13 who developed acuteelevation of intraocular pressure and glaucoma. Congenit Anom (Kyoto) 2020; 60(5): 151152. <doi:10.1111/cga.12367>.
https://www.ncbi.nlm.nih.gov/pubmed/31981267
Yamada Masaki, Nowalk Andrew, Green Michael. 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>.
https://www.ncbi.nlm.nih.gov/pubmed/33044777
Yamazawa E., Ohno M., Satomi K., Yoshida A., Miyakita Y., Takahashi M., Satomi N.,
Asanome T., Maeshima A., Shiotsuka M., Iwata S., Yamasaki H., Morishima Y., Sugiyama H.,
Narita Y. First case of human neurocoenurosis caused by Taenia serialis: A case report. Int J

Infect Dis 2020; 92171-174. <doi:10.1016/j.ijid.2020.01.004>.
https://www.ncbi.nlm.nih.gov/pubmed/31927059
Yoshida M., Takeuchi I., Shoji K., Miyairi I., Arai K. Bacillus Calmette-Guerin Cervical
Lymphadenitis in a 6-Year-Old Boy on Infliximab for Inflammatory Bowel Disease. Pediatr

Infect Dis J 2020; 39(9): e242-e244. <doi:10.1097/INF.0000000000002712>.
https://www.ncbi.nlm.nih.gov/pubmed/32345827