Publications 2022
【2022年】
＜遺伝、染色体異常、先天奇形＞
Abe K, Kabe Y, Uchiyama S, et al. Pro108Ser mutation of SARS-CoV-2 3CL(pro) reduces the enzyme activity and ameliorates the clinical severity of COVID-19. Sci Rep. 2022;12(1):1299. <doi: 10.1038/s41598-022-05424-3>
https://www.ncbi.nlm.nih.gov/pubmed/35079088
Abe K, Kitago M, Kosaki K, et al. Genomic analysis of familial pancreatic cancers and intraductal papillary mucinous neoplasms: A cross-sectional study. Cancer Sci. 2022;113(5):1821-1829. <doi: 10.1111/cas.15316>
https://www.ncbi.nlm.nih.gov/pubmed/35238112
Ariake C, Hosoe N, Sakurai H, et al. Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) with Positive Immunohistochemistry for SLCO2A1 Protein. Intern Med. 2022;61(17):2607-2611. <doi: 10.2169/internalmedicine.8939-21>
https://www.ncbi.nlm.nih.gov/pubmed/35185052
Fuke T, Nakamura A, Inoue T, et al. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. J Hum Genet. 2022;67(10):607-611. <doi: 10.1038/s10038-022-01048-7>
https://www.ncbi.nlm.nih.gov/pubmed/35606504
Funato M, Uehara T, Okada Y, Kaneko H, Kosaki K. Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant. Congenit Anom (Kyoto). 2022;62(2):82-83. <doi: 10.1111/cga.12454>
https://www.ncbi.nlm.nih.gov/pubmed/34914139
Hara-Isono K, Nakamura A, Fuke T, et al. Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders. J Clin Endocrinol Metab. 2022;107(8):e3121-e3133. <doi: 10.1210/clinem/dgac319>
https://www.ncbi.nlm.nih.gov/pubmed/35583390
Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. J Med Genet. 2022;59(12):1241-1246. <doi: 10.1136/jmg-2022-108700>
https://www.ncbi.nlm.nih.gov/pubmed/35906012
Hayakawa M, Matsubara T, Mochizuki Y, et al. An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions. BMC Neurol. 2022;22(1):2. <doi: 10.1186/s12883-021-02514-z>
https://www.ncbi.nlm.nih.gov/pubmed/34979968
Ikura H, Kitakata H, Endo J, et al. Three patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant. Eur J Med Genet. 2022;65(3):104451. <doi: 10.1016/j.ejmg.2022.104451>
https://www.ncbi.nlm.nih.gov/pubmed/35149236
Iwasa YI, Nishio SY, Yoshimura H, et al. Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan. Hum Genet. 2022;141(3-4):865-875. <doi: 10.1007/s00439-021-02351-7>
https://www.ncbi.nlm.nih.gov/pubmed/34536124
Kajita N, Futagawa H, Yoshihashi H, Yoshida K, Narita M. Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome. Pediatr Int. 2022;64(1):e14732. <doi: 10.1111/ped.14732>
https://www.ncbi.nlm.nih.gov/pubmed/34808020
Kanako KI, Sakakibara N, Murayama K, et al. BCS1L mutations produce Fanconi syndrome with developmental disability. J Hum Genet. 2022;67(3):143-148. <doi: 10.1038/s10038-021-00984-0>
https://www.ncbi.nlm.nih.gov/pubmed/34650211
Kawazoe T, Tobisawa S, Sugaya K, et al. Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions. Intern Med. 2022;61(4):547-552. <doi: 10.2169/internalmedicine.7767-21>
https://www.ncbi.nlm.nih.gov/pubmed/34433719
Kirino S, Suzuki M, Ogawa T, et al. Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant. Eur J Med Genet. 2022;65(11):104623. <doi: 10.1016/j.ejmg.2022.104623>
https://www.ncbi.nlm.nih.gov/pubmed/36116699
Maruwaka K, Nakajima Y, Yamada T, et al. Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Am J Med Genet A. 2022;188(7):2246-2250. <doi: 10.1002/ajmg.a.62733>
https://www.ncbi.nlm.nih.gov/pubmed/35338599
Moriyama H, Endo J, Kataoka M, et al. Omega-3 fatty acid epoxides produced by PAF-AH2 in mast cells regulate pulmonary vascular remodeling. Nat Commun. 2022;13(1):3013. <doi: 10.1038/s41467-022-30621-z>
https://www.ncbi.nlm.nih.gov/pubmed/35641514
Murakami H, Uehara T, Enomoto Y, et al. Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome. Mol Syndromol. 2022;13(1):75-79. <doi: 10.1159/000517977>
https://www.ncbi.nlm.nih.gov/pubmed/35221879
Murata Y, Kurosaka H, Hirose T, et al. Comprehensive orthodontic treatment for Silver–Russell syndrome patient with large overjet and overbite. Clinical and Investigative Orthodontics. 2022;81(3):168-177. <doi: 10.1080/27705781.2022.2090731>
https://doi.org/10.1080/27705781.2022.2090731
Murofushi Y, Hayakawa I, Abe Y, et al. Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy. Neuropediatrics. 2022;53(1):65-68. <doi: 10.1055/s-0041-1732446>
https://www.ncbi.nlm.nih.gov/pubmed/34448181
Nakajima K, Suzuki H, Yamamoto M, et al. A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R. J Dermatol. 2022;49(7):714-718. <doi: 10.1111/1346-8138.16372>
https://www.ncbi.nlm.nih.gov/pubmed/35365885
Narusawa H, Sasaki S, Hara-Isono K, et al. A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. Eur J Med Genet. 2022;65(6):104502. <doi: 10.1016/j.ejmg.2022.104502>
https://www.ncbi.nlm.nih.gov/pubmed/35427809
Nishi E, Takenouchi T, Miya F, et al. The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome. Am J Med Genet A. 2022;188(2):446-453. <doi: 10.1002/ajmg.a.62533>
https://www.ncbi.nlm.nih.gov/pubmed/34652060
Ogura Y, Uehara T, Ujibe K, et al. The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant. Am J Med Genet A. 2022;188(4):1184-1192. <doi: 10.1002/ajmg.a.62638>
https://www.ncbi.nlm.nih.gov/pubmed/35018717
Ohkawa T, Nishimura A, Kosaki K, et al. PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome. J Hum Genet. 2022;67(1):51-54. <doi: 10.1038/s10038-021-00965-3>
https://www.ncbi.nlm.nih.gov/pubmed/34341476
Okamoto N, Miya F, Tsunoda T, et al. Four pedigrees with aminoacyl-tRNA synthetase abnormalities. Neurol Sci. 2022;43(4):2765-2774. <doi: 10.1007/s10072-021-05626-z>
https://www.ncbi.nlm.nih.gov/pubmed/34585293
Saito S, Ono N, Sasaki T, et al. Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1. J Hum Genet. 2022;67(11):675-678. <doi: 10.1038/s10038-022-01068-3>
https://www.ncbi.nlm.nih.gov/pubmed/35970985
Shimura T, Kosaki K. Global spread of a Japan-originated Delta lineage of SARS-CoV-2 after the Tokyo Olympics is most likely unrelated to the Olympics. J Travel Med. 2022. <doi: 10.1093/jtm/taac017>
https://www.ncbi.nlm.nih.gov/pubmed/35137177
Shiraishi Y, Okada A, Chiba K, et al. Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data. Nat Commun. 2022;13(1):5357. <doi: 10.1038/s41467-022-32887-9>
https://www.ncbi.nlm.nih.gov/pubmed/36175409
Suzuki H, Li S, Tokutomi T, et al. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Hum Mol Genet. 2022;31(24):4173-4182. <doi: 10.1093/hmg/ddac166>
https://www.ncbi.nlm.nih.gov/pubmed/35861646
Suzuki H, Nozaki M, Yoshihashi H, et al. Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations. J Pediatr. 2022;244:38-48 e31. <doi: 10.1016/j.jpeds.2022.01.033>
https://www.ncbi.nlm.nih.gov/pubmed/35131284
Suzuki N, Takai Y, Yonemura M, et al. Guidance on the need for contraception related to use of pharmaceuticals: the Japan Agency for Medical Research and Development Study Group for providing information on the proper use of pharmaceuticals in patients with reproductive potential. Int J Clin Oncol. 2022;27(5):829-839. <doi: 10.1007/s10147-022-02149-1>
https://www.ncbi.nlm.nih.gov/pubmed/35347493
Takahashi Y, Date H, Oi H, et al. Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. J Hum Genet. 2022;67(9):505-513. <doi: 10.1038/s10038-022-01025-0>
https://www.ncbi.nlm.nih.gov/pubmed/35318459
Tsuchida Y, Nagafuchi Y, Uehara T, et al. Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report. Medicine (Baltimore). 2022;101(7):e28828. <doi: 10.1097/MD.0000000000028828>
https://www.ncbi.nlm.nih.gov/pubmed/35363175
Uwamino Y, Yokoyama T, Shimura T, et al. The effect of the E484K mutation of SARS-CoV-2 on the neutralizing activity of antibodies from BNT162b2 vaccinated individuals. Vaccine. 2022;40(13):1928-1931. <doi: 10.1016/j.vaccine.2022.02.047>
https://www.ncbi.nlm.nih.gov/pubmed/35183387
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. 2022;38(3):659-663. <doi: 10.1007/s00381-021-05232-6>
https://www.ncbi.nlm.nih.gov/pubmed/34121137
Yamada M, Suzuki H, Adachi H, et al. Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report. BMC Neurol. 2022;22(1):20. <doi: 10.1186/s12883-021-02540-x>
https://www.ncbi.nlm.nih.gov/pubmed/35012485
Yamada M, Suzuki H, Futagawa H, et al. Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome. Eur J Med Genet. 2022;65(6):104512. <doi: 10.1016/j.ejmg.2022.104512>
https://www.ncbi.nlm.nih.gov/pubmed/35439611
Yamada M, Suzuki H, Miya F, Takenouchi T, Kosaki K. Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect. Am J Med Genet A. 2022;188(8):2472-2478. <doi: 10.1002/ajmg.a.62777>
https://www.ncbi.nlm.nih.gov/pubmed/35567499
Yamada M, Suzuki H, Shima T, Uehara T, Kosaki K. A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders. Am J Med Genet A. 2022;188(2):613-617. <doi: 10.1002/ajmg.a.62535>
https://www.ncbi.nlm.nih.gov/pubmed/34622574
＜栄養障害、代謝性疾患、消化器疾患＞
Aoyagi R, Iio K, Hataya H. Chronic Dysphagia, Wheezing, and Poor Weight Gain in a 2-Year-Old Male Patient. Gastroenterology. 2022;162(1):51-53. <doi: 10.1053/j.gastro.2021.09.033>
https://www.ncbi.nlm.nih.gov/pubmed/34555380
Kinoshita S, Shoya K, Shimotakahara A, Hataya H, Saito O. Etilefrine infusion for idiopathic chyle leakage in a critically ill child. Pediatr Int. 2022;64(1):e14850. <doi: 10.1111/ped.14850>
https://www.ncbi.nlm.nih.gov/pubmed/34807999
Nagashima Y, Inokuchi M, Yasui Y, Uchida K, Tokumura M, Hasegawa T. Impact of school closure due to the coronavirus disease 2019 pandemic on body mass index in Japanese children: Retrospective longitudinal study. J Paediatr Child Health. 2022;58(10):1841-1846. <doi: 10.1111/jpc.16122>
https://www.ncbi.nlm.nih.gov/pubmed/35841347
Tamaoka S, Fukuda A, Katoh-Fukui Y, et al. Quantification of Maternal Microchimeric Cells in the Liver of Children With Biliary Atresia. J Pediatr Gastroenterol Nutr. 2022;74(4):e83-e86. <doi: 10.1097/MPG.0000000000003388>
https://www.ncbi.nlm.nih.gov/pubmed/35082246
＜血液疾患、腫瘍＞
Horiguchi A, Arakawa Y, Noguchi J, et al. Donor-origin anaplastic lymphoma kinase driver-positive inflammatory myofibroblastic tumor after umbilical cord blood transplantation in pediatric acute lymphoblastic leukemia. Pediatr Blood Cancer. 2022;69(11):e29708. <doi: 10.1002/pbc.29708>
https://www.ncbi.nlm.nih.gov/pubmed/35441453
Inoue K, Arakawa Y, Noguchi J, et al. Successful perioperative management using prothrombin complex concentrates in patients with severe congenital protein C deficiency. Pediatr Blood Cancer. 2022;69(1):e29380. <doi: 10.1002/pbc.29380>
https://www.ncbi.nlm.nih.gov/pubmed/34665512
Irie R, Shioda Y, Osumi T, et al. Pediatric liver failure with massive sinusoidal infiltration of histiocytes. J Clin Exp Hematop. 2022;62(1):25-34. <doi: 10.3960/jslrt.21022>
https://www.ncbi.nlm.nih.gov/pubmed/34840207
Isshiki K, Kamiya T, Endo A, et al. Vedolizumab therapy for pediatric steroid-refractory gastrointestinal acute graft-versus-host disease. Int J Hematol. 2022;115(4):590-594. <doi: 10.1007/s12185-021-03245-0>
https://www.ncbi.nlm.nih.gov/pubmed/34724153
Ito A, Osumi T, Fujimori K, et al. Utility of emergent plain X-ray for childhood acute leukemia with bone pain. Pediatr Int. 2022;64(1):e14843. <doi: 10.1111/ped.14843>
https://www.ncbi.nlm.nih.gov/pubmed/33998750
Kano M, Furugane R, Hogetsu K, et al. Vaginal yolk sac tumor resected by a novel laparo/endoscope-assisted posterior sagittal approach: a case report. Surg Case Rep. 2022;8(1):162. <doi: 10.1186/s40792-022-01520-8>
https://www.ncbi.nlm.nih.gov/pubmed/36036317
Kodama Y, Sato A, Kato K, et al. Ponatinib in pediatric patients with Philadelphia chromosome-positive leukemia: a retrospective survey of the Japan Children’s Cancer Group. Int J Hematol. 2022;116(1):131-138. <doi: 10.1007/s12185-022-03329-5>
https://www.ncbi.nlm.nih.gov/pubmed/35349077
Matsukawa Y, Isshiki K, Osumi T, et al. Successful hematopoietic stem cell transplantation with reduced dose of busulfan for Omenn syndrome. Blood Cell Ther. 2022;5(3):75-78. <doi: 10.31547/bct-2021-021>
https://www.ncbi.nlm.nih.gov/pubmed/36712554
Morisawa K, Sato T, Shimoyamada M, et al. Adapted whole-body surveillance for von Hippel-Lindau-associated tumors in 3p deletion syndrome with VHL deletion: A case report. Pediatr Blood Cancer. 2022;69(11):e29732. <doi: 10.1002/pbc.29732>
https://www.ncbi.nlm.nih.gov/pubmed/35441425
Okazaki K, Okazaki K, Uesugi M, Matsusima T, Hataya H. Evaluation of the accuracy of a non-invasive hemoglobin-monitoring device in schoolchildren. Pediatr Neonatol. 2022;63(1):19-24. <doi: 10.1016/j.pedneo.2021.05.028>
https://www.ncbi.nlm.nih.gov/pubmed/34389262
Sato-Otsubo A, Osumi T, Yoshida M, et al. Genomic analysis of two rare cases of pediatric Ph-positive T-ALL. Pediatr Blood Cancer. 2022;69(3):e29427. <doi: 10.1002/pbc.29427>
https://www.ncbi.nlm.nih.gov/pubmed/34719840
Sherman SJ, Tanaka R, Qaddoumi I. Psychiatric symptoms in children with low-grade glioma and craniopharyngioma: A systematic review. J Psychiatr Res. 2022;148:240-249. <doi: 10.1016/j.jpsychires.2022.01.056>
https://www.ncbi.nlm.nih.gov/pubmed/35149436
Shima H, Ishikawa T, Ito J, et al. Severe bloody diarrhea due to cytokine release syndrome after chimeric antigen receptor T cell therapy for refractory acute lymphoblastic leukemia. Blood Cell Ther. 2022;5(1):31-34. <doi: 10.31547/bct-2021-009>
https://www.ncbi.nlm.nih.gov/pubmed/36714263
Shima H, Kada A, Tanizawa A, et al. Discontinuation of tyrosine kinase inhibitors in pediatric chronic myeloid leukemia. Pediatr Blood Cancer. 2022;69(8):e29699. <doi: 10.1002/pbc.29699>
https://www.ncbi.nlm.nih.gov/pubmed/35403816
Shima H, Kurosawa T, Oikawa H, et al. Cervical Edema Extending to the Larynx as Local Cytokine Release Syndrome Following Chimeric Antigen Receptor T-Cell Therapy in a Boy with Refractory Acute Lymphoblastic Leukemia. Case Rep Oncol. 2022;15(1):257-262. <doi: 10.1159/000522669>
https://www.ncbi.nlm.nih.gov/pubmed/35431861
Shimada H, Tanizawa A, Kondo T, et al. Prognostic Factors for Outcomes of Allogeneic HSCT for Children and Adolescents/Young Adults With CML in the TKI Era. Transplant Cell Ther. 2022;28(7):376-389. <doi: 10.1016/j.jtct.2022.04.011>
https://www.ncbi.nlm.nih.gov/pubmed/35447373
Shinohara H, Sawado R, Nakagawa M, et al. Dual targeting of EZH1 and EZH2 for the treatment of malignant rhabdoid tumors. Mol Ther Oncolytics. 2022;27:14-25. <doi: 10.1016/j.omto.2022.09.006>
https://www.ncbi.nlm.nih.gov/pubmed/36212776
Shirai R, Osumi T, Sato-Otsubo A, et al. Quantitative assessment of copy number alterations by liquid biopsy for neuroblastoma. Genes Chromosomes Cancer. 2022;61(11):662-669. <doi: 10.1002/gcc.23073>
https://www.ncbi.nlm.nih.gov/pubmed/35655408
Shirai R, Osumi T, Sato-Otsubo A, et al. Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1. Cancer Rep (Hoboken). 2022;5(9):e1559. <doi: 10.1002/cnr2.1559>
https://www.ncbi.nlm.nih.gov/pubmed/34553842
Sugawa M, Fukuoka K, Mori M, et al. Prognostic impact of the multimodal treatment approach in patients with C19MC-altered embryonal tumor with multilayered rosettes. J Neurosurg Pediatr. 2022:1-7. <doi: 10.3171/2022.4.PEDS21542>
https://www.ncbi.nlm.nih.gov/pubmed/35594893
Tanaka Y, Urayama KY, Mori M, et al. Prominence of NUDT15 genetic variation associated with 6-mercaptopurine tolerance in a genome-wide association study of Japanese children with acute lymphoblastic leukaemia. Br J Haematol. 2022;199(2):260-269. <doi: 10.1111/bjh.18405>
https://www.ncbi.nlm.nih.gov/pubmed/35961941
Watanabe K, Mori M, Hishiki T, et al. Feasibility of dose-dense cisplatin-based chemotherapy in Japanese children with high-risk hepatoblastoma: Analysis of the JPLT3-H pilot study. Pediatr Blood Cancer. 2022;69(2):e29389. <doi: 10.1002/pbc.29389>
https://www.ncbi.nlm.nih.gov/pubmed/34606680
Yamada Y, Osumi T, Kato M, et al. Gemtuzumab Ozogamicin Followed by Unrelated Cord Blood Transplantation With Reduced-intensity Conditioning for a Child With Refractory Acute Promyelocytic Leukemia. J Pediatr Hematol Oncol. 2022;44(4):178-180. <doi: 10.1097/MPH.0000000000002404>
https://www.ncbi.nlm.nih.gov/pubmed/35091516
Yanagi M, Fukuoka K, Mori M, et al. Prognostic Implication of DNA Methylation Signature in Atypical Choroid Plexus Papilloma With Intracranial Dissemination. J Pediatr Hematol Oncol. 2022;44(4):e844-e848. <doi: 10.1097/MPH.0000000000002428>
https://www.ncbi.nlm.nih.gov/pubmed/35180763
Yoshida M, Brown SA, Moriyama T, et al. Low NUDT15 expression levels due to biallelic NUDT15 variants and 6-mercaptopurine intolerance. Br J Haematol. 2022;199(2):270-276. <doi: 10.1111/bjh.18375>
https://www.ncbi.nlm.nih.gov/pubmed/35905175
Yoshida M, Tomizawa D, Yoshimura S, et al. Genetic features of precursor B-cell phenotype Burkitt leukemia with IGH-MYC rearrangement. Cancer Rep (Hoboken). 2022;5(7):e1545. <doi: 10.1002/cnr2.1545>
https://www.ncbi.nlm.nih.gov/pubmed/34472720
Yoshikawa H, Sato T, Ishikawa T, et al. Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report. Pediatr Blood Cancer. 2022;69(2):e29368. <doi: 10.1002/pbc.29368>
https://www.ncbi.nlm.nih.gov/pubmed/34558169
＜呼吸器疾患、アレルギー＞
＜呼吸＞
Adachi T, Ogawa Y, Fukushi T, et al. Research impact analysis of international funding agencies in the realm of allergy and immunology. Allergy. 2022;77(5):1602-1606. <doi: 10.1111/all.15249>
https://www.ncbi.nlm.nih.gov/pubmed/35143695
Akashi M, Hayashi D, Kajita N, et al. Recent dramatic increase in patients with food protein-induced enterocolitis syndrome (FPIES) provoked by hen’s egg in Japan. J Allergy Clin Immunol Pract. 2022;10(4):1110-1112 e1112. <doi: 10.1016/j.jaip.2021.11.007>
https://www.ncbi.nlm.nih.gov/pubmed/34800705
Asano K, Tamari M, Zuberbier T, et al. Diversities of allergic pathologies and their modifiers: Report from the second DGAKI-JSA meeting. Allergol Int. 2022;71(3):310-317. <doi: 10.1016/j.alit.2022.05.003>
https://www.ncbi.nlm.nih.gov/pubmed/35662539
Funata K, Koinuma G, Maeda J, Takahashi T. Asymptomatic pregnancy and delivery in a patient with scimitar syndrome. Pediatr Int. 2022;64(1):e14702. <doi: 10.1111/ped.14702>
https://www.ncbi.nlm.nih.gov/pubmed/34558758
Hara M, Morimoto N, Watabe T, et al. Virus-related stimuli modulate SARS-CoV-2 entry factor expression in pediatric tonsillar epithelial cells in vitro. Allergy. 2022;77(7):2240-2242. <doi: 10.1111/all.15296>
https://www.ncbi.nlm.nih.gov/pubmed/35347742
Hayashi H, Kajita N, Yoshida K, Narita M, Hataya H. Food Protein-induced Enterocolitis Syndrome Due to Rice in a Japanese Infant: A Case Report. Keio J Med. 2022;71(3):68-70. <doi: 10.2302/kjm.2021-0016-CR>
https://www.ncbi.nlm.nih.gov/pubmed/35249897
Ishikawa T, Okai M, Funata K, Miyazaki O, Kawai T. Bronchial stenosis associated with non-tuberculous mycobacterial infection. Pediatr Int. 2022;64(1):e14947. <doi: 10.1111/ped.14947>
https://www.ncbi.nlm.nih.gov/pubmed/35437871
Katsura M, Sato T, Morita K, Ishii T, Kishi K, Hasegawa T. Iatrogenic Cushing syndrome due to topical corticosteroids after skin graft surgery for giant nevus: A case report. Pediatr Dermatol. 2022;39(1):147-148. <doi: 10.1111/pde.14910>
https://www.ncbi.nlm.nih.gov/pubmed/34989020
Kelleher MM, Phillips R, Brown SJ, et al. Skin care interventions in infants for preventing eczema and food allergy. Cochrane Database Syst Rev. 2022;11(11):CD013534. <doi: 10.1002/14651858.CD013534.pub3>
https://www.ncbi.nlm.nih.gov/pubmed/36373988
Morita H, Matsumoto K, Saito H. Biologics for allergic and immunologic diseases. J Allergy Clin Immunol. 2022;150(4):766-777. <doi: 10.1016/j.jaci.2022.08.009>
https://www.ncbi.nlm.nih.gov/pubmed/36058723
Morita H, Saito H, Matsumoto K. Immune checkpoint molecules on ILC2s as potential therapeutic targets for allergic diseases. J Allergy Clin Immunol. 2022;149(1):60-62. <doi: 10.1016/j.jaci.2021.10.021>
https://www.ncbi.nlm.nih.gov/pubmed/34718042
Nagakura A, Morikawa Y, Takasugi N, et al. Oxygen saturation targets in pediatric respiratory disease. Pediatr Int. 2022;64(1):e15129. <doi: 10.1111/ped.15129>
https://www.ncbi.nlm.nih.gov/pubmed/35616158
Nishi K, Ogura M, Tamai N, et al. Successful rituximab treatment for severe rapidly progressive interstitial lung disease with anti-MDA5 antibody-positive juvenile dermatomyositis: a case report and literature review. Pediatr Rheumatol Online J. 2022;20(1):60. <doi: 10.1186/s12969-022-00723-5>
https://www.ncbi.nlm.nih.gov/pubmed/35927666
Orimo K, Tamari M, Takeda T, et al. Direct platelet adhesion potentiates group 2 innate lymphoid cell functions. Allergy. 2022;77(3):843-855. <doi: 10.1111/all.15057>
https://www.ncbi.nlm.nih.gov/pubmed/34402091
Sato S, Kainuma K, Noda T, et al. Evaluation of adrenaline auto-injector prescription profiles: A population-based, retrospective cohort study within the National Insurance Claims Database of Japan. Allergol Int. 2022;71(3):354-361. <doi: 10.1016/j.alit.2022.02.002>
https://www.ncbi.nlm.nih.gov/pubmed/35331624
Shimizu A, Otani Y, Ishitate M, Shimotakahara A, Miyakawa T. Congenital Bronchobiliary Fistula with Bright Yellow Serous Sputum. J Pediatr. 2022;243:235-236. <doi: 10.1016/j.jpeds.2021.12.002>
https://www.ncbi.nlm.nih.gov/pubmed/34890585
Yamada A, Hasegawa T, Fujieda M, Morita H, Matsumoto K. Protease-digested egg-white products induce oral tolerance in mice but elicit little IgE production upon epicutaneous exposure. Allergol Int. 2022;71(4):528-535. <doi: 10.1016/j.alit.2022.03.006>
https://www.ncbi.nlm.nih.gov/pubmed/35443911
＜循環器疾患＞
Fujita S, Matsushima T, Iio K, Shimotakahara A, Hataya H. Subacute cardiac tamponade after the Nuss procedure for pectus excavatum. Pediatr Int. 2022;64(1):e14698. <doi: 10.1111/ped.14698>
https://www.ncbi.nlm.nih.gov/pubmed/34549477
Fukushima N, Maeda J, Matsuoka K, Yoshimura Y. Intramural aortic course in anomalous origin of single coronary artery from the right pulmonary artery: A case report and review of the literature. J Cardiol Cases. 2022;25(6):381-384. <doi: 10.1016/j.jccase.2022.01.001>
https://www.ncbi.nlm.nih.gov/pubmed/35685258
Garcia Aguilar H, Gorenflo M, Ivy DD, et al. Riociguat in children with pulmonary arterial hypertension: The PATENT-CHILD study. Pulm Circ. 2022;12(3):e12133. <doi: 10.1002/pul2.12133>
https://www.ncbi.nlm.nih.gov/pubmed/36186721
Iio K, Morikawa Y, Miyata K, et al. Risk Factors of Coronary Artery Aneurysms in Kawasaki Disease with a Low Risk of Intravenous Immunoglobulin Resistance: An Analysis of Post RAISE. J Pediatr. 2022;240:158-163 e154. <doi: 10.1016/j.jpeds.2021.08.065>
https://www.ncbi.nlm.nih.gov/pubmed/34461064
Kikuoka I, Yamamoto K, Kodo K, Maeda J, Yamagishi H. Successful and unsuccessful management for indolent Kawasaki disease. Pediatr Int. 2022;64(1):e14865. <doi: 10.1111/ped.14865>
https://www.ncbi.nlm.nih.gov/pubmed/34837721
Koyama Y, Miura M, Maeda J, Morikawa Y, Yamagishi H. Exercise Stress Electrocardiography Using the Two-Minute Jump Test in Children. Pediatr Cardiol. 2022. <doi: 10.1007/s00246-022-03058-w>
https://www.ncbi.nlm.nih.gov/pubmed/36436005
Maeda J, Inai K, Furutani Y, et al. Psychiatric Disorders in Patients with 22q11.2 Deletion Syndrome Concomitant with Congenital Heart Disease in Japan. Journal of Pediatric Cardiology and Cardiac Surgery. 2022;6(1):6-10. <doi: 10.24509/jpccs.21-022>
https://www.jstage.jst.go.jp/article/jpccs/6/1/6_21-022/_article
Momoi M, Katsumata Y, Kataoka M, Yamagishi H, Fukuda K, Takatsuki S. Exercise prescription using an insertable cardiac monitor in a patient with catecholaminergic polymorphic ventricular tachycardia. HeartRhythm Case Rep. 2022;8(1):17-21. <doi: 10.1016/j.hrcr.2021.10.004>
https://www.ncbi.nlm.nih.gov/pubmed/35070701
Mori H, Yoshikawa T, Kimura H, et al. Outcomes of hypertrophic cardiomyopathy in Japanese children: a retrospective cohort study. Heart Vessels. 2022;37(6):1075-1084. <doi: 10.1007/s00380-021-01989-7>
https://www.ncbi.nlm.nih.gov/pubmed/34799788
Otani A, Iio K, Hataya H. Onycholysis associated with Kawasaki disease: A comment on “Characteristic nail lesions in Kawasaki disease: Case series and literature review”. J Dermatol. 2022;49(8):e291-e292. <doi: 10.1111/1346-8138.16358>
https://www.ncbi.nlm.nih.gov/pubmed/35307858
Shirasu T, Kuno T, Yasuhara J, et al. Meta-analysis finds recurrent infection is more common after endovascular than after open repair of infected abdominal aortic aneurysm. J Vasc Surg. 2022;75(1):348-355 e310. <doi: 10.1016/j.jvs.2021.07.240>
https://www.ncbi.nlm.nih.gov/pubmed/34500028
Shirasu T, Takagi H, Yasuhara J, Kuno T, Kent KC, Clouse WD. Smaller size is more suitable for pharmacotherapy among undersized abdominal aortic aneurysm: A systematic review and meta-analysis. Vasc Med. 2022;27(3):261-268. <doi: 10.1177/1358863X211061603>
https://www.ncbi.nlm.nih.gov/pubmed/34930052
Sumitomo NF, Kodo K, Yamagishi H. Synthetic electrocardiogram-gated cardiac computed tomography precisely depicted a coronary-to-pulmonary fistula in an early infant with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Eur Heart J Cardiovasc Imaging. 2022;23(5):e236. <doi: 10.1093/ehjci/jeab261>
https://www.ncbi.nlm.nih.gov/pubmed/34864975
Sumitomo NF, Tamura M, Asano S, et al. Successful Preoperative Partial Splenic Artery and Aneurysm Embolization for Thrombocytopenia Associated with Failed Fontan Circulation. Int Heart J. 2022;63(5):984-988. <doi: 10.1536/ihj.22-083>
https://www.ncbi.nlm.nih.gov/pubmed/36104230
Suzuki T, Suenaga T, Sakai A, et al. Case Report: Ciclosporin A for Refractory Multisystem Inflammatory Syndrome in Children. Front Pediatr. 2022;10:890755. <doi: 10.3389/fped.2022.890755>
https://www.ncbi.nlm.nih.gov/pubmed/35712624
Yamagishi H. Clinical Developmental Cardiology for Understanding Etiology of Congenital Heart Disease. J Clin Med. 2022;11(9). <doi: 10.3390/jcm11092381>
https://www.ncbi.nlm.nih.gov/pubmed/35566507
Yoshida Y, Uchida K, Kodo K, et al. Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension. J Mol Cell Cardiol. 2022;171:105-116. <doi: 10.1016/j.yjmcc.2022.07.002>
https://www.ncbi.nlm.nih.gov/pubmed/35914404
＜新生児疾患＞
Arimitsu T, Shinohara N, Minagawa Y, Hoshino E, Hata M, Takahashi T. Differential age-dependent development of inter-area brain connectivity in term and preterm neonates. Pediatr Res. 2022;92(4):1017-1025. <doi: 10.1038/s41390-022-01939-7>
https://www.ncbi.nlm.nih.gov/pubmed/35094022
Endo T, Iida M, Ichihashi Y, et al. Fetal growth restriction and a single umbilical artery are independent predictors of hypospadias during pregnancy. Placenta. 2022;130:53-59. <doi: 10.1016/j.placenta.2022.11.001>
https://www.ncbi.nlm.nih.gov/pubmed/36401899
Ikeda K, Hara-Isono K, Takahashi K, Arimitsu T, Sato Y. The cut-off values of vitamin D deficiency in early infancy. Pediatr Neonatol. 2022;63(4):361-367. <doi: 10.1016/j.pedneo.2021.12.012>
https://www.ncbi.nlm.nih.gov/pubmed/35410821
Kasuga Y, Kawai T, Miyakoshi K, et al. DNA methylation analysis of cord blood samples in neonates born to gestational diabetes mothers diagnosed before 24 gestational weeks. BMJ Open Diabetes Res Care. 2022;10(1). <doi: 10.1136/bmjdrc-2021-002539>
https://www.ncbi.nlm.nih.gov/pubmed/35046013
Namba F, Nakagawa R, Haga M, et al. Cytomegalovirus-related sepsis-like syndrome in very premature infants in Japan. Pediatr Int. 2022;64(1):e14994. <doi: 10.1111/ped.14994>
https://www.ncbi.nlm.nih.gov/pubmed/34528348
Osada A, Arimitsu T, Kusakawa M, Kin T, Hida M. A case of severe neonatal transient hyperinsulinemic hypoglycaemia without identifiable risk factors: a case report. BMC Pregnancy Childbirth. 2022;22(1):423. <doi: 10.1186/s12884-022-04763-3>
https://www.ncbi.nlm.nih.gov/pubmed/35590270
Tominaga T, Ikeda K, Awazu M. Transient hypercalcemia followed by hypocalcemia in a preterm infant after maternal magnesium sulfate therapy. Clin Pediatr Endocrinol. 2022;31(2):77-80. <doi: 10.1297/cpe.2021-0061>
https://www.ncbi.nlm.nih.gov/pubmed/35431443
＜神経・筋疾患、心身症＞
Fujino S, Enokizono M, Ihara S, Kono T, Miyama S. Sinus pericranii associated with syntelencephaly: a case report. BMC Neurol. 2022;22(1):316. <doi: 10.1186/s12883-022-02764-5>
https://www.ncbi.nlm.nih.gov/pubmed/36008788
Fujino S, Enokizono M, Tamada I, Ihara S, Kono T, Miyama S. Symptomatic enophthalmos due to sphenoid wing dysplasia appearing over 12 years in a patient with neurofibromatosis type 1: a case report and literature review. J AAPOS. 2022;26(4):210-214 e211. <doi: 10.1016/j.jaapos.2022.02.013>
https://www.ncbi.nlm.nih.gov/pubmed/35609740
Harigai R, Sato R, Hirose C, et al. Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation. Cancers (Basel). 2022;14(10). <doi: 10.3390/cancers14102377>
https://www.ncbi.nlm.nih.gov/pubmed/35625983
Ichinose F, Nakamura T, Kira R, et al. Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus. Brain Dev. 2022;44(1):36-43. <doi: 10.1016/j.braindev.2021.07.004>
https://www.ncbi.nlm.nih.gov/pubmed/34362595
Ikeda A, Tomiyasu M, Yamamoto A, et al. Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imaging. Epilepsy Res. 2022;181:106881. <doi: 10.1016/j.eplepsyres.2022.106881>
https://www.ncbi.nlm.nih.gov/pubmed/35183975
Ikuta Y, Miura M, Goto T, Miyama S. Retrospective Echocardiographic Analysis of West Syndrome During Adrenocorticotropic Hormone Therapy. Front Pediatr. 2022;10:889752. <doi: 10.3389/fped.2022.889752>
https://www.ncbi.nlm.nih.gov/pubmed/35620145
Kanamori K, Miyama S. Classification of pediatric headache cases referred to a neurology department. Pediatr Int. 2022;64(1):e15181. <doi: 10.1111/ped.15181>
https://www.ncbi.nlm.nih.gov/pubmed/35770833
Kanamori K, Sakaguchi Y, Miyama S. Rituximab treatment for a child with antibody-negative limbic encephalitis. Pediatr Int. 2022;64(1):e15287. <doi: 10.1111/ped.15287>
https://www.ncbi.nlm.nih.gov/pubmed/36257612
Kanamori K, Sakaguchi Y, Miyama S. The Utility of Limited-Montage Electroencephalography for Seizure Detection in Children. Pediatr Neurol. 2022;137:1-5. <doi: 10.1016/j.pediatrneurol.2022.08.011>
https://www.ncbi.nlm.nih.gov/pubmed/36182696
Kumaki T, Enomoto Y, Aida N, Goto T, Kurosawa K. Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay. Pediatr Int. 2022;64(1):e14734. <doi: 10.1111/ped.14734>
https://www.ncbi.nlm.nih.gov/pubmed/34714572
Liang Z, Wang Y, Tian H, et al. Spatial complexity method for tracking brain development and degeneration using functional near-infrared spectroscopy. Biomed Opt Express. 2022;13(3):1718-1736. <doi: 10.1364/BOE.449341>
https://www.ncbi.nlm.nih.gov/pubmed/35414994
Maruyama T, Yotsukura E, Torii H, et al. Children in Tokyo Have a Long Sustained Axial Length from Age 3 Years: The Tokyo Myopia Study. J Clin Med. 2022;11(15). <doi: 10.3390/jcm11154413>
https://www.ncbi.nlm.nih.gov/pubmed/35956029
Masuda T, Osaka H, Tsuchida N, et al. Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication. Epilepsy Behav Rep. 2022;19:100547. <doi: 10.1016/j.ebr.2022.100547>
https://www.ncbi.nlm.nih.gov/pubmed/35733834
Nishimura N, Enomoto Y, Kumaki T, et al. Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes. Mol Syndromol. 2022;13(3):221-225. <doi: 10.1159/000520134>
https://www.ncbi.nlm.nih.gov/pubmed/35707592
Ogawa E, Sakaguchi Y, Enokizono M, et al. Vanishing basal ganglia in ATP1A3-related polymicrogyria. Am J Med Genet A. 2022;188(2):665-667. <doi: 10.1002/ajmg.a.62531>
https://www.ncbi.nlm.nih.gov/pubmed/34633143
Ogawa E, Shimura K, Yoshihashi H, Miyama S. Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia. Pediatr Neurol. 2022;130:4-6. <doi: 10.1016/j.pediatrneurol.2021.12.009>
https://www.ncbi.nlm.nih.gov/pubmed/35303588
Sakamoto M, Iwama K, Sasaki M, et al. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. Genet Med. 2022;24(12):2453-2463. <doi: 10.1016/j.gim.2022.08.007>
https://www.ncbi.nlm.nih.gov/pubmed/36305856
Suzuki H, Aoki K, Kurosawa K, et al. De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence. Hum Mol Genet. 2022;31(22):3846-3854. <doi: 10.1093/hmg/ddac136>
https://www.ncbi.nlm.nih.gov/pubmed/35717577
Tanaka M, Wang Q, Morikawa Y, et al. Efficacy, safety, and economic impact of diazepam suppositories with as-needed acetaminophen for prevention of seizure recurrence during the same fever episode in children with suspected simple febrile seizures. Epilepsia. 2022;63(7):1704-1713. <doi: 10.1111/epi.17271>
https://www.ncbi.nlm.nih.gov/pubmed/35485955
Watanabe K, Noguchi A, Takahashi I, et al. Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3. Hum Genome Var. 2022;9(1):23. <doi: 10.1038/s41439-022-00196-8>
https://www.ncbi.nlm.nih.gov/pubmed/35680838
＜腎・泌尿器疾患、生殖器疾患＞
Aoki Y, Satoh H, Hamasaki Y, et al. Incidence of malignancy after pediatric kidney transplantation: a single-center experience over the past three decades in Japan. Clin Exp Nephrol. 2022;26(3):294-302. <doi: 10.1007/s10157-021-02143-3>
https://www.ncbi.nlm.nih.gov/pubmed/34580806
Atkins LT, Reid J, Zink D. The effects of increased forward trunk lean during stair ascent on hip adduction and internal rotation in asymptomatic females. Gait Posture. 2022;97:147-151. <doi: 10.1016/j.gaitpost.2022.08.001>
https://www.ncbi.nlm.nih.gov/pubmed/35961131
Awazu M. Isolated Nocturnal Hypertension in Children. Front Pediatr. 2022;10:823414. <doi: 10.3389/fped.2022.823414>
https://www.ncbi.nlm.nih.gov/pubmed/35252065
Awazu M. Structural and functional changes in the kidney caused by adverse fetal and neonatal environments. Mol Biol Rep. 2022;49(3):2335-2344. <doi: 10.1007/s11033-021-06967-w>
https://www.ncbi.nlm.nih.gov/pubmed/34817775
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. 2022;11(1):116-119. <doi: 10.1007/s13730-021-00640-8>
https://www.ncbi.nlm.nih.gov/pubmed/34435324
Chan EY, Yu ELM, Angeletti A, et al. Long-Term Efficacy and Safety of Repeated Rituximab to Maintain Remission in Idiopathic Childhood Nephrotic Syndrome: An International Study. J Am Soc Nephrol. 2022;33(6):1193-1207. <doi: 10.1681/ASN.2021111472>
https://www.ncbi.nlm.nih.gov/pubmed/35354600
Deki S, Hamada R, Mikami N, et al. Half of children with IgA vasculitis-associated nephritis with nephrotic state spontaneously recover. Nephrology (Carlton). 2022;27(8):681-689. <doi: 10.1111/nep.14041>
https://www.ncbi.nlm.nih.gov/pubmed/35362228
Gotoh Y, Uemura O, Ishikura K, et al. Correction to: Validation of estimated glomerular filtration rate equations for Japanese children. Clin Exp Nephrol. 2022;26(1):100-102. <doi: 10.1007/s10157-021-02144-2>
https://www.ncbi.nlm.nih.gov/pubmed/34860324
Harada R, Hamasaki Y, Okuda Y, Hamada R, Ishikura K. Epidemiology of pediatric chronic kidney disease/kidney failure: learning from registries and cohort studies. Pediatr Nephrol. 2022;37(6):1215-1229. <doi: 10.1007/s00467-021-05145-1>
https://www.ncbi.nlm.nih.gov/pubmed/34091754
Iijima K, Sako M, Oba M, et al. Mycophenolate Mofetil after Rituximab for Childhood-Onset Complicated Frequently-Relapsing or Steroid-Dependent Nephrotic Syndrome. J Am Soc Nephrol. 2022;33(2):401-419. <doi: 10.1681/ASN.2021050643>
https://www.ncbi.nlm.nih.gov/pubmed/34880074
Ishiko S, Morisada N, Kondo A, et al. Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. Clin Exp Nephrol. 2022;26(2):140-153. <doi: 10.1007/s10157-021-02135-3>
https://www.ncbi.nlm.nih.gov/pubmed/34536170
Miura K, Ando T, Kanda S, et al. Response to steroid and immunosuppressive therapies may predict post-transplant recurrence of steroid-resistant nephrotic syndrome. Pediatr Transplant. 2022;26(8):e14103. <doi: 10.1111/petr.14103>
https://www.ncbi.nlm.nih.gov/pubmed/34309142
Morisawa K, Honda M. Two patients presenting IgA nephropathy after COVID-19 vaccination during a follow-up for asymptomatic hematuria. Pediatr Nephrol. 2022;37(7):1695-1696. <doi: 10.1007/s00467-022-05518-0>
https://www.ncbi.nlm.nih.gov/pubmed/35352188
Nagano C, Hara S, Yoshikawa N, et al. Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis. Kidney360. 2022;3(8):1384-1393. <doi: 10.34067/KID.0000812022>
https://www.ncbi.nlm.nih.gov/pubmed/36176665
Sakakibara N, Ijuin T, Horinouchi T, et al. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. Nephrol Dial Transplant. 2022;37(2):262-270. <doi: 10.1093/ndt/gfab274>
https://www.ncbi.nlm.nih.gov/pubmed/34586410
Sakakibara N, Nozu K, Yamamura T, et al. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population. J Hum Genet. 2022;67(7):427-440. <doi: 10.1038/s10038-022-01020-5>
https://www.ncbi.nlm.nih.gov/pubmed/35140360
Tao K, Morisada N, Awazu M. What is the cause of kidney dysfunction in a newborn with trisomy 21? Questions. Pediatr Nephrol. 2022;37(2):351-352. <doi: 10.1007/s00467-021-05275-6>
https://www.ncbi.nlm.nih.gov/pubmed/34727241
Terano C, Hamada R, Tatsuno I, et al. Epidemiology of biopsy-proven Henoch-Schonlein purpura nephritis in children: A nationwide survey in Japan. PLoS One. 2022;17(7):e0270796. <doi: 10.1371/journal.pone.0270796>
https://www.ncbi.nlm.nih.gov/pubmed/35802668
Uemura O, Ishikura K, Kamei K, et al. Comparison of inulin clearance with 2-h creatinine clearance in Japanese pediatric patients with renal disease: open-label phase 3 study of inulin. Clin Exp Nephrol. 2022;26(2):132-139. <doi: 10.1007/s10157-021-02133-5>
https://www.ncbi.nlm.nih.gov/pubmed/34562149
＜先天代謝異常、内分泌疾患＞
Abe K, Li J, Liu YY, Brent GA. Thyroid Hormone-mediated Histone Modification Protects Cortical Neurons From the Toxic Effects of Hypoxic Injury. J Endocr Soc. 2022;6(11):bvac139. <doi: 10.1210/jendso/bvac139>
https://www.ncbi.nlm.nih.gov/pubmed/36817622
Adachi M, Nagahara K, Ochi A, Toyoda J, Muroya K, Mizuno K. Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis. J Endocr Soc. 2022;6(12):bvac147. <doi: 10.1210/jendso/bvac147>
https://www.ncbi.nlm.nih.gov/pubmed/36320629
Akiba K, Hasegawa Y, Katoh-Fukui Y, et al. POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism. Endocrinology. 2022;164(2). <doi: 10.1210/endocr/bqac198>
https://www.ncbi.nlm.nih.gov/pubmed/36427334
Eggermann T, Yapici E, Bliek J, et al. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022;14(1):41. <doi: 10.1186/s13148-022-01259-x>
https://www.ncbi.nlm.nih.gov/pubmed/35296332
Fujisawa Y, Ono H, Konno A, et al. Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse. J Endocr Soc. 2022;6(4):bvac022. <doi: 10.1210/jendso/bvac022>
https://www.ncbi.nlm.nih.gov/pubmed/35265782
Fukami M. 11-Oxyandrogens from the viewpoint of pediatric endocrinology. Clin Pediatr Endocrinol. 2022;31(3):110-115. <doi: 10.1297/cpe.2022-0029>
https://www.ncbi.nlm.nih.gov/pubmed/35928376
Fukami M, Miyado M. Mosaic loss of the Y chromosome and men’s health. Reprod Med Biol. 2022;21(1):e12445. <doi: 10.1002/rmb2.12445>
https://www.ncbi.nlm.nih.gov/pubmed/35386373
Fukami M, Ogata T. Congenital disorders of estrogen biosynthesis and action. Best Pract Res Clin Endocrinol Metab. 2022;36(1):101580. <doi: 10.1016/j.beem.2021.101580>
https://www.ncbi.nlm.nih.gov/pubmed/34538723
Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T. SHOX far-downstream deletion in a patient with nonsyndromic short stature. Am J Med Genet A. 2022;188(7):2173-2177. <doi: 10.1002/ajmg.a.62734>
https://www.ncbi.nlm.nih.gov/pubmed/35319168
Fukuyama T, Sato T, Nakano S, et al. Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia. Clin Pediatr Endocrinol. 2022;31(1):50-53. <doi: 10.1297/cpe.2021-0036>
https://www.ncbi.nlm.nih.gov/pubmed/35002069
Hachiya R, Tanaka M, Itoh M, Suganami T. Molecular mechanism of crosstalk between immune and metabolic systems in metabolic syndrome. Inflamm Regen. 2022;42(1):13. <doi: 10.1186/s41232-022-00198-7>
https://www.ncbi.nlm.nih.gov/pubmed/35490239
Hattori A, Okuyama T, So T, et al. Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Hum Genome Var. 2022;9(1):32. <doi: 10.1038/s41439-022-00211-y>
https://www.ncbi.nlm.nih.gov/pubmed/36097158
Hiraide T, Masunaga Y, Honda A, et al. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata. J Hum Genet. 2022;67(5):303-306. <doi: 10.1038/s10038-021-01000-1>
https://www.ncbi.nlm.nih.gov/pubmed/34999728
Hiraide T, Shimizu K, Miyamoto S, et al. Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. J Hum Genet. 2022;67(7):387-392. <doi: 10.1038/s10038-022-01016-1>
https://www.ncbi.nlm.nih.gov/pubmed/35067677
Ichikawa Y, Sato T, Ichihashi Y, Ishii T, Hasegawa T. Destructive thyroiditis without autoantibodies in an infant. Pediatr Int. 2022;64(1):e14709. <doi: 10.1111/ped.14709>
https://www.ncbi.nlm.nih.gov/pubmed/34605112
Ikegawa K, Hachiya R, Akiba K, Hasegawa Y. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report. Clin Pediatr Endocrinol. 2022;31(2):87-92. <doi: 10.1297/cpe.2021-0032>
https://www.ncbi.nlm.nih.gov/pubmed/35431445
Ikegawa K, Hasegawa Y. Fracture risk, underlying pathophysiology, and bone quality assessment in patients with Turner syndrome. Front Endocrinol (Lausanne). 2022;13:967857. <doi: 10.3389/fendo.2022.967857>
https://www.ncbi.nlm.nih.gov/pubmed/36325455
Inokuchi M, Matsuo N, Takayama JI, Hasegawa T. Reference values of inside leg length and inside leg length to stature ratio for Japanese children, 0-12 years of age. Ann Hum Biol. 2022;49(1):1-9. <doi: 10.1080/03014460.2022.2045355>
https://www.ncbi.nlm.nih.gov/pubmed/35191816
Ishii T, Kashimada K, Amano N, et al. Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision). Clin Pediatr Endocrinol. 2022;31(3):116-143. <doi: 10.1297/cpe.2022-0009>
https://www.ncbi.nlm.nih.gov/pubmed/35928387
Ishii T, Takagi M, Nagasaki K, et al. Molecular Basis for Hypochondroplasia in Japan. Endocrines. 2022;3(3):428-432.
https://www.mdpi.com/2673-396X/3/3/34
Ishikawa K, Irimada T, Anzo M, Kinai E. Detection of varicella-zoster virus DNA in cerebrospinal fluid in an infant with herpes zoster. Pediatr Int. 2022;64(1):e14852. <doi: 10.1111/ped.14852>
https://www.ncbi.nlm.nih.gov/pubmed/34808007
Ishinoda Y, Uto A, Yamada Y, et al. An elderly patient with 17alpha-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report. BMC Endocr Disord. 2022;22(1):300. <doi: 10.1186/s12902-022-01216-y>
https://www.ncbi.nlm.nih.gov/pubmed/36461073
Isojima T, Hasegawa T, Yokoya S, Tanaka T. Demographic characteristics of children with growth hormone deficiency from 1996 to 2015 in Japan: 20 years of data from the foundation for growth science in Japan. Endocr J. 2022;69(8):927-939. <doi: 10.1507/endocrj.EJ21-0520>
https://www.ncbi.nlm.nih.gov/pubmed/35236792
Iwano R, Toki M, Hanakawa J, et al. Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome. Biomed Chromatogr. 2022;36(1):e5249. <doi: 10.1002/bmc.5249>
https://www.ncbi.nlm.nih.gov/pubmed/34569083
Katsura M, Sato T, Morita K, Ishii T, Kishi K, Hasegawa T. Iatrogenic Cushing syndrome due to topical corticosteroids after skin graft surgery for giant nevus: A case report. Pediatr Dermatol. 2022;39(1):147-148. <doi: 10.1111/pde.14910>
https://www.ncbi.nlm.nih.gov/pubmed/34989020
Kawasaki Y, Sato T, Nakano S, et al. High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2022;31(2):93-97. <doi: 10.1297/cpe.2021-0066>
https://www.ncbi.nlm.nih.gov/pubmed/35431448
Kawashima S, Yuno A, Sano S, et al. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus. J Bone Miner Res. 2022;37(10):1850-1859. <doi: 10.1002/jbmr.4652>
https://www.ncbi.nlm.nih.gov/pubmed/35859320
Kiuchi K, Sato T, Nakano S, Ishii T, Hasegawa T. Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy. J Pediatr Endocrinol Metab. 2022;35(12):1556-1559. <doi: 10.1515/jpem-2022-0224>
https://www.ncbi.nlm.nih.gov/pubmed/36113970
Kurata K, Hosono K, Takayama M, et al. Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report. Am J Ophthalmol Case Rep. 2022;25:101298. <doi: 10.1016/j.ajoc.2022.101298>
https://www.ncbi.nlm.nih.gov/pubmed/35112026
Kyodo R, Takeuchi I, Narumi S, et al. Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report. Clin Immunol. 2022;238:109015. <doi: 10.1016/j.clim.2022.109015>
https://www.ncbi.nlm.nih.gov/pubmed/35429653
Mackay D, Bliek J, Kagami M, et al. First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders. Clin Epigenetics. 2022;14(1):143. <doi: 10.1186/s13148-022-01358-9>
https://www.ncbi.nlm.nih.gov/pubmed/36345041
Masunaga Y, Nishimura G, Takahashi K, et al. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022;12(1):17079. <doi: 10.1038/s41598-022-21751-x>
https://www.ncbi.nlm.nih.gov/pubmed/36224347
Masunaga Y, Ohkubo Y, Nishimura G, et al. ACAN biallelic variants in a girl with severe idiopathic short stature. J Hum Genet. 2022;67(8):481-486. <doi: 10.1038/s10038-022-01030-3>
https://www.ncbi.nlm.nih.gov/pubmed/35314765
Matsubara K, Hattori T, Narumi S. Achievement of Developmental Milestones Recorded in Real Time: A Mobile App-Based Study. J Pediatr. 2022;245:201-207 e209. <doi: 10.1016/j.jpeds.2022.02.018>
https://www.ncbi.nlm.nih.gov/pubmed/35182581
Miyado M, Fukami M, Ogata T. MAMLD1 and Differences/Disorders of Sex Development: An Update. Sex Dev. 2022;16(2-3):126-137. <doi: 10.1159/000519298>
https://www.ncbi.nlm.nih.gov/pubmed/34695834
Miyagi T, Yamazaki R, Ueda K, et al. The Patterning and Proportion of Charged Residues in the Arginine-Rich Mixed-Charge Domain Determine the Membrane-Less Organelle Targeted by the Protein. Int J Mol Sci. 2022;23(14). <doi: 10.3390/ijms23147658>
https://www.ncbi.nlm.nih.gov/pubmed/35887012
Mizuno Y, Sato T, Shimura K, Ishii T, Hasegawa T. One microliter of blood for SRY testing in a neonate with atypical genitalia. Pediatr Int. 2022;64(1):e15345. <doi: 10.1111/ped.15345>
https://www.ncbi.nlm.nih.gov/pubmed/36163638
Nagahara K, Nishibukuro T, Ogiwara Y, et al. Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia. J Atheroscler Thromb. 2022;29(5):667-677. <doi: 10.5551/jat.62807>
https://www.ncbi.nlm.nih.gov/pubmed/34011801
Naiki Y, Miyado M, Shindo M, et al. Adeno-Associated Virus-Mediated Gene Therapy for Patients’ Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia. Hum Gene Ther. 2022;33(15-16):801-809. <doi: 10.1089/hum.2022.005>
https://www.ncbi.nlm.nih.gov/pubmed/35838129
Nakagawa R, Takasawa K, Gau M, et al. Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022;31(13):2223-2235. <doi: 10.1093/hmg/ddac023>
https://www.ncbi.nlm.nih.gov/pubmed/35134173
Nakamura-Utsunomiya A, Goda S, Hayakawa S, et al. Identification of clinical factors related to antibody-mediated immune response to the subfornical organ. Clin Endocrinol (Oxf). 2022;97(1):72-80. <doi: 10.1111/cen.14737>
https://www.ncbi.nlm.nih.gov/pubmed/35419873
Namba N, Kubota T, Muroya K, et al. Safety and Efficacy of Burosumab in Pediatric Patients With X-Linked Hypophosphatemia: A Phase 3/4 Open-Label Trial. J Endocr Soc. 2022;6(5):bvac021. <doi: 10.1210/jendso/bvac021>
https://www.ncbi.nlm.nih.gov/pubmed/35356008
Narita K, Muramatsu H, Narumi S, et al. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Sci Rep. 2022;12(1):14589. <doi: 10.1038/s41598-022-14161-6>
https://www.ncbi.nlm.nih.gov/pubmed/36028527
Narumi S. Discovery of MIRAGE syndrome. Pediatr Int. 2022;64(1):e15283. <doi: 10.1111/ped.15283>
https://www.ncbi.nlm.nih.gov/pubmed/35972063
Narumi S, Opitz R, Nagasaki K, et al. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling. Hum Mol Genet. 2022;31(23):3967-3974. <doi: 10.1093/hmg/ddac093>
https://www.ncbi.nlm.nih.gov/pubmed/35535691
Ogiwara Y, Hattori A, Ikegawa K, et al. Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation. Cytogenet Genome Res. 2022;162(11-12):617-624. <doi: 10.1159/000531103>
https://www.ncbi.nlm.nih.gov/pubmed/37231804
Okamoto M, Hamada J, Ochi F, Fukami M, Eguchi M. Short stature in a child with a novel Aggrecan gene variant: A case report. Pediatr Int. 2022;64(1):e15116. <doi: 10.1111/ped.15116>
https://www.ncbi.nlm.nih.gov/pubmed/35396811
Sano S, Masunaga Y, Kato F, Fujisawa Y, Saitsu H, Ogata T. Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review. Clin Pediatr Endocrinol. 2022;31(3):172-177. <doi: 10.1297/cpe.2022-0020>
https://www.ncbi.nlm.nih.gov/pubmed/35928375
Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T. The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration. Congenit Anom (Kyoto). 2022;62(3):136-137. <doi: 10.1111/cga.12464>
https://www.ncbi.nlm.nih.gov/pubmed/35318730
Sato T, Ishii T, Ichihashi Y, Asanuma H, Hasegawa T. Ultrasound finding of vaginal bleeding in infants with 21-hydroxylase deficiency. Pediatr Int. 2022;64(1):e14966. <doi: 10.1111/ped.14966>
https://www.ncbi.nlm.nih.gov/pubmed/35112426
Sato T, Nakano S, Asanuma H, Ishii T, Hasegawa T. Effectiveness of dihydrotestosterone ointment on glans penis size increment in a 5-alpha-reductase type 2 deficiency patient. Pediatr Int. 2022;64(1):e15079. <doi: 10.1111/ped.15079>
https://www.ncbi.nlm.nih.gov/pubmed/35312214
Sato T, Nakano S, Ichihashi Y, et al. Less-Invasive Diagnostic Approaches for Infants with Suspected Differences of Sex Development: A Case Report of a 297-g Neonate with Ambiguous Genitalia. Neonatology. 2022;119(6):785-789. <doi: 10.1159/000527065>
https://www.ncbi.nlm.nih.gov/pubmed/36273444
Satoh M, Hasegawa Y. Factors affecting prepubertal and pubertal bone age progression. Front Endocrinol (Lausanne). 2022;13:967711. <doi: 10.3389/fendo.2022.967711>
https://www.ncbi.nlm.nih.gov/pubmed/36072933
Shimura K, Yoshizaki K, Hasegawa Y. Higher serum thyroid autoantibody value is a risk factor of hypothyroidism in children and young adults with chronic thyroiditis. Clin Pediatr Endocrinol. 2022;31(3):152-158. <doi: 10.1297/cpe.2022-0002>
https://www.ncbi.nlm.nih.gov/pubmed/35928388
Shindo M, Miyado K, Kang W, Fukami M, Miyado M. Efficient Superovulation and Egg Collection from Mice. Bio Protoc. 2022;12(11). <doi: 10.21769/BioProtoc.4439>
https://www.ncbi.nlm.nih.gov/pubmed/35799908
Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review. Endocr J. 2022;69(7):831-838. <doi: 10.1507/endocrj.EJ21-0779>
https://www.ncbi.nlm.nih.gov/pubmed/35236788
Tachibana N, Hosono K, Nomura S, et al. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa. Genes (Basel). 2022;13(2). <doi: 10.3390/genes13020359>
https://www.ncbi.nlm.nih.gov/pubmed/35205402
Takasawa K, Nakamura-Utsunomiya A, Amano N, et al. Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists. Endocr J. 2022;69(1):75-83. <doi: 10.1507/endocrj.EJ21-0292>
https://www.ncbi.nlm.nih.gov/pubmed/34373418
Tanase-Nakao K, Muroya K, Adachi M, Abe K, Hasegawa T, Narumi S. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. Clin Pediatr Endocrinol. 2022;31(4):250-255. <doi: 10.1297/cpe.2022-0030>
https://www.ncbi.nlm.nih.gov/pubmed/36405439
Tomomasa D, Sato T, Hasegawa T, Morio T, Kanegane H. Cartilage-hair hypoplasia with T-cell dysfunction. Pediatr Int. 2022;64(1):e15080. <doi: 10.1111/ped.15080>
https://www.ncbi.nlm.nih.gov/pubmed/35278261
Watanabe K, Tsuji-Hosokawa A, Hashimoto A, et al. The High Relevance of 21-Deoxycortisol, (Androstenedione + 17alpha-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17alpha-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2022;107(12):3341-3352. <doi: 10.1210/clinem/dgac521>
https://www.ncbi.nlm.nih.gov/pubmed/36071550
Yamoto K, Okada S, Kato F, et al. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia. Am J Med Genet A. 2022;188(5):1612-1617. <doi: 10.1002/ajmg.a.62649>
https://www.ncbi.nlm.nih.gov/pubmed/35005837
Yoshikawa H, Sato T, Ishikawa T, et al. Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report. Pediatr Blood Cancer. 2022;69(2):e29368. <doi: 10.1002/pbc.29368>
https://www.ncbi.nlm.nih.gov/pubmed/34558169
＜免疫異常、膠原病、リウマチ性疾患、感染症＞
Araki Y, Akamine K, Hayashi H, Matsushima T, Hataya H. Sjogren’s syndrome in a 7-year-old boy with fever of unknown origin. J Paediatr Child Health. 2022;58(12):2316-2318. <doi: 10.1111/jpc.16166>
https://www.ncbi.nlm.nih.gov/pubmed/35986642
Atsumi Y, Yamanaka H, Shimozawa K, et al. Drug-induced crystalluria attributable to tosufloxacin in children. Pediatr Int. 2022;64(1):e15368. <doi: 10.1111/ped.15368>
https://www.ncbi.nlm.nih.gov/pubmed/36179111
Chen Y, Wang Z, Li F, et al. Comparison of COVID-19 and seasonal influenza under different intensities of non-pharmaceutical interventions and vaccine effectiveness. Front Public Health. 2022;10:973088. <doi: 10.3389/fpubh.2022.973088>
https://www.ncbi.nlm.nih.gov/pubmed/36238257
Federici S, Kredo-Russo S, Valdes-Mas R, et al. Targeted suppression of human IBD-associated gut microbiota commensals by phage consortia for treatment of intestinal inflammation. Cell. 2022;185(16):2879-2898 e2824. <doi: 10.1016/j.cell.2022.07.003>
https://www.ncbi.nlm.nih.gov/pubmed/35931020
Fukayama H, Shoji K, Yoshida M, et al. Bacterial meningitis due to the Streptococcus mitis group in children with cerebrospinal fluid leak. IDCases. 2022;27:e01406. <doi: 10.1016/j.idcr.2022.e01406>
https://www.ncbi.nlm.nih.gov/pubmed/35145856
Hashimoto R, Shoji K, Ishiguro A, Miyairi I. Clinical characteristics of bacteremic urinary tract infection due to third-generation cephalosporin-resistant Escherichia coli in children. J Infect Chemother. 2022;28(3):469-471. <doi: 10.1016/j.jiac.2021.12.019>
https://www.ncbi.nlm.nih.gov/pubmed/35012868
Ichimura Y, Yamauchi M, Yoshida N, et al. Effectiveness of immunization activities on measles and rubella immunity among individuals in East Sepik, Papua New Guinea: A cross-sectional study. IJID Reg. 2022;3:84-88. <doi: 10.1016/j.ijregi.2022.03.001>
https://www.ncbi.nlm.nih.gov/pubmed/35755474
Ichinose M, Matsushima T, Hataya H. Purulent Discharge from Stensen Duct in Neonatal Suppurative Parotitis. J Pediatr. 2022;243:230-231. <doi: 10.1016/j.jpeds.2021.12.029>
https://www.ncbi.nlm.nih.gov/pubmed/34952006
Inoguchi T, Takenouchi T, Yamazaki F, et al. Neuropsychiatric systemic lupus erythematosus in a girl with neurocutaneous melanosis caused by a somatic mutation in NRAS. Rheumatology (Oxford). 2022;61(8):e224-e226. <doi: 10.1093/rheumatology/keac130>
https://www.ncbi.nlm.nih.gov/pubmed/35238342
Inoguchi T, Yaginuma M, Shinjoh M, Takahashi G, Yamagishi H. A case of multisystem inflammatory syndrome in children refractory to intravenous immunoglobulin. Pediatr Int. 2022;64(1):e15152. <doi: 10.1111/ped.15152>
https://www.ncbi.nlm.nih.gov/pubmed/35727901
Inoue K, Kobayashi S, Sato K, et al. Regional Antimicrobial Stewardship Program in a Provincial Medical Zone in Japan: a Multifaceted Approach. Jpn J Infect Dis. 2022;75(4):347-354. <doi: 10.7883/yoken.JJID.2021.577>
https://www.ncbi.nlm.nih.gov/pubmed/34980706
Iqbal A, Fujimura T, Shinjoh M, et al. The first case report of pediatric acute appendicitis caused by “Candidatus Actinobaculum timonae”. J Infect Chemother. 2022;28(3):451-454. <doi: 10.1016/j.jiac.2021.11.023>
https://www.ncbi.nlm.nih.gov/pubmed/34887179
Isobe Y, Chang B, Endoh A, Miyairi I. Recurrent group B streptococcus bacteremia despite discontinuing contaminated breast milk. Pediatr Int. 2022;64(1):e15274. <doi: 10.1111/ped.15274>
https://www.ncbi.nlm.nih.gov/pubmed/36257623
Iwamoto N, Morisaki N, Uda K, et al. Change in use of pediatric oral antibiotics in Japan, pre- and post-implementation of an antimicrobial resistance action plan. Pediatr Int. 2022;64(1):e15197. <doi: 10.1111/ped.15197>
https://www.ncbi.nlm.nih.gov/pubmed/35770781
Iwata S, Koyama H, Murata Y. Efficacy and safety of daptomycin in Japanese pediatric participants with complicated skin and soft tissue infections or bacteremia caused by gram-positive cocci. J Infect Chemother. 2022;28(3):406-412. <doi: 10.1016/j.jiac.2021.11.019>
https://www.ncbi.nlm.nih.gov/pubmed/34920946
Iwata S, Sonoyama T, Kamitani A, et al. Phase 1/2 clinical trial of COVID-19 vaccine in Japanese participants: A report of interim findings. Vaccine. 2022;40(27):3721-3726. <doi: 10.1016/j.vaccine.2022.04.054>
https://www.ncbi.nlm.nih.gov/pubmed/35606235
Kang Y, Ohnishi T, Yutaka K, Kunikata T, Ichihashi K. Decrease in pediatric inpatients with respiratory syncytial virus infection during severe acute respiratory syndrome coronavirus 2 pandemic. Pediatr Int. 2022;64(1):e14717. <doi: 10.1111/ped.14717>
https://www.ncbi.nlm.nih.gov/pubmed/34549479
Katsuta T, Shimizu N, Okada K, et al. The clinical characteristics of pediatric coronavirus disease 2019 in 2020 in Japan. Pediatr Int. 2022;64(1):e14912. <doi: 10.1111/ped.14912>
https://www.ncbi.nlm.nih.gov/pubmed/34233075
Kimiya T, Shinjoh M, Asanuma H, Inoguchi T, Takahashi T. High success rate of nocturnal enuresis treatment during the stay-home period for COVID-19. Int J Urol. 2022;29(7):617-622. <doi: 10.1111/iju.14852>
https://www.ncbi.nlm.nih.gov/pubmed/35240721
Kurosaki S, Otani A, Senoo S, Hataya H, Horikoshi Y. A child with the Omicron variant coronavirus disease 2019 pneumonia complicated with arrhythmia. Pediatr Int. 2022;64(1):e15299. <doi: 10.1111/ped.15299>
https://www.ncbi.nlm.nih.gov/pubmed/36112041
Li Y, Watanabe E, Kawashima Y, et al. Identification of trypsin-degrading commensals in the large intestine. Nature. 2022;609(7927):582-589. <doi: 10.1038/s41586-022-05181-3>
https://www.ncbi.nlm.nih.gov/pubmed/36071157
Myojin S, Pak K, Sako M, et al. Interventions for Shiga toxin-producing Escherichia coli gastroenteritis and risk of hemolytic uremic syndrome: A population-based matched case control study. PLoS One. 2022;17(2):e0263349. <doi: 10.1371/journal.pone.0263349>
https://www.ncbi.nlm.nih.gov/pubmed/35120154
Nakayama T, Sawada A, Ito T. Increased Production of Inflammatory Cytokines after Inoculation with Recombinant Zoster Vaccine in Mice. Vaccines (Basel). 2022;10(8). <doi: 10.3390/vaccines10081339>
https://www.ncbi.nlm.nih.gov/pubmed/36016227
Nakayama T, Sekino H, Aihara H, Kino M. Appropriate Needle Length Determined by Ultrasonic Echography for Intramuscular Injection in Japanese Elderly over 50 Years. Healthcare (Basel). 2022;10(5). <doi: 10.3390/healthcare10050800>
https://www.ncbi.nlm.nih.gov/pubmed/35627937
Ogawa E, Shoji K, Uehara Y, Miyairi I. Retropharyngeal Abscess Caused by Community-Acquired MRSA USA300 Clone in a 1-Year-Old Japanese Girl. Jpn J Infect Dis. 2022;75(4):403-406. <doi: 10.7883/yoken.JJID.2021.605>
https://www.ncbi.nlm.nih.gov/pubmed/35095024
Ohnishi T, Mishima Y, Naito T, et al. Clinical features and treatment strategies of febrile urinary tract infection caused by extended-spectrum beta-lactamase-producing Enterobacteriaceae in children: a multicenter retrospective observational study in Japan. Int J Infect Dis. 2022;125:97-102. <doi: 10.1016/j.ijid.2022.09.033>
https://www.ncbi.nlm.nih.gov/pubmed/36180033
Ohnishi T, Nakazawa M, Wada N, Abe J, Kamimaki I. Yersinia pseudotuberculosis Infection Accompanied by Intussusception and Incomplete Kawasaki Disease in a 7-year-old Girl. Keio J Med. 2022;71(2):50-52. <doi: 10.2302/kjm.2021-0002-CR>
https://www.ncbi.nlm.nih.gov/pubmed/34108299
Ohnishi T, Sato S, Asanuma S, Uejima Y, Suganuma E. Actinomycosis of the Middle Ear in Children: Case Report and Literature Review. Pediatr Infect Dis J. 2022;41(11):e478-e480. <doi: 10.1097/INF.0000000000003679>
https://www.ncbi.nlm.nih.gov/pubmed/36102698
Ohnishi T, Sato S, Noda A, Tanaka M, Suganuma E. A case of concurrent rhinovirus infection and Kawasaki disease complicated with acute encephalopathy. Pediatr Int. 2022;64(1):e15167. <doi: 10.1111/ped.15167>
https://www.ncbi.nlm.nih.gov/pubmed/35791037
Ohnishi T, Sato S, Uejima Y, Kawano Y, Suganuma E. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome: Clinical characteristics and treatment outcomes – a single center study in Japan. Pediatr Int. 2022;64(1):e15294. <doi: 10.1111/ped.15294>
https://www.ncbi.nlm.nih.gov/pubmed/36134651
Ohnishi T, Uejima Y, Sato S, Kawano Y, Suganuma E. Do Not Miss the Diagnosis of Urinary Tract Infection in Infants With COVID-19. Pediatr Infect Dis J. 2022;41(6):e274. <doi: 10.1097/INF.0000000000003524>
https://www.ncbi.nlm.nih.gov/pubmed/35436260
Okada K, Horikoshi Y, Nishimura N, et al. Clinical evaluation of a new rapid immunochromatographic test for detection of Bordetella pertussis antigen. Sci Rep. 2022;12(1):8069. <doi: 10.1038/s41598-022-11933-y>
https://www.ncbi.nlm.nih.gov/pubmed/35577904
Okubo Y, Nishi A, Michels KB, et al. The consequence of financial incentives for not prescribing antibiotics: a Japan’s nationwide quasi-experiment. Int J Epidemiol. 2022;51(5):1645-1655. <doi: 10.1093/ije/dyac057>
https://www.ncbi.nlm.nih.gov/pubmed/35353127
Okumura K, Sakatani S, Funakoshi H, Uda K, Hataya H. Infantile primary sternal osteomyelitis due to group B Streptococcus. Pediatr Int. 2022;64(1):e15030. <doi: 10.1111/ped.15030>
https://www.ncbi.nlm.nih.gov/pubmed/35396802
Shibata M, Matsubara K, Matsunami K, et al. Epidemiology of group B streptococcal disease in infants younger than 1 year in Japan: a nationwide surveillance study 2016-2020. Eur J Clin Microbiol Infect Dis. 2022;41(4):559-571. <doi: 10.1007/s10096-021-04396-y>
https://www.ncbi.nlm.nih.gov/pubmed/35048277
Shinjoh M, Furuichi M, Kobayashi H, et al. Trends in effectiveness of inactivated influenza vaccine in children by age groups in seven seasons immediately before the COVID-19 era. Vaccine. 2022;40(22):3018-3026. <doi: 10.1016/j.vaccine.2022.04.033>
https://www.ncbi.nlm.nih.gov/pubmed/35450780
Shoji K, Saito J, Nakamura H, et al. Current Aspects of Pediatric Pharmacokinetics and Pharmacodynamics of Antimicrobials in Japan: Importance of the Promotion of Population PK/PD Analysis. Pediatr Infect Dis J. 2022;41(10):e418-e423. <doi: 10.1097/INF.0000000000003622>
https://www.ncbi.nlm.nih.gov/pubmed/35763684
Shoji K, Tsuzuki S, Akiyama T, et al. Clinical Characteristics and Outcomes of Coronavirus Disease 2019 (COVID-19) in Pregnant Women: A Propensity Score-Matched Analysis of Data From the COVID-19 Registry Japan. Clin Infect Dis. 2022;75(1):e397-e402. <doi: 10.1093/cid/ciac028>
https://www.ncbi.nlm.nih.gov/pubmed/35037051
Takahashi YK, Funaki T, Ishiguro A, Miyairi I. Urinary tract infection caused by bacterial pathogens of the respiratory tract in children. Pediatr Int. 2022;64(1):e15419. <doi: 10.1111/ped.15419>
https://www.ncbi.nlm.nih.gov/pubmed/36382945
Takata M, Ubukata K, Miyazaki H, Iwata S, Nakamura S. Diversity of amino acid substitutions of penicillin-binding proteins in penicillin-non-susceptible and non-vaccine type Streptococcus pneumoniae. J Infect Chemother. 2022;28(11):1523-1530. <doi: 10.1016/j.jiac.2022.08.006>
https://www.ncbi.nlm.nih.gov/pubmed/35963598
Uejima Y, Suganuma E, Ohnishi T, et al. Prospective Study of the Detection of Bacterial Pathogens in Pediatric Clinical Specimens Using the Melting Temperature Mapping Method. Microbiol Spectr. 2022;10(3):e0019822. <doi: 10.1128/spectrum.00198-22>
https://www.ncbi.nlm.nih.gov/pubmed/35674438
Uno S, Takano Y, Iketani O, et al. Digestive Decolonization of Colorectal Carriage of Vancomycin-resistant Enterococcus faecium in a Japanese Adult. Intern Med. 2022;61(2):249-252. <doi: 10.2169/internalmedicine.6088-20>
https://www.ncbi.nlm.nih.gov/pubmed/34176828
Yamamoto H, Morikawa Y, Hagiwara Y, Hataya H. Pediatric emergency healthcare utilization during the coronavirus disease 2019 pandemic in Tokyo. Pediatr Int. 2022;64(1):e14936. <doi: 10.1111/ped.14936>
https://www.ncbi.nlm.nih.gov/pubmed/34324761
Yanagawa Y, Izumiyama S, Saito-Nakano Y, et al. Gene expression of axenically-isolated clinical Entamoeba histolytica strains and its impact on disease severity of amebiasis. PLoS Pathog. 2022;18(9):e1010880. <doi: 10.1371/journal.ppat.1010880>
https://www.ncbi.nlm.nih.gov/pubmed/36178974
Yoshida N, Koinuma G, Yoneyama H, Shinjoh M. Respiratory Condition Exacerbated While Using Broad-spectrum Antibiotic and Steroid: A Case of 1-Year-old Girl. The Pediatric Infectious Disease Journal. 2022;41(9). <doi: 10.1097/INF.0000000000003438>
Yoshifuji A, Ishioka K, Masuzawa Y, et al. COVID-19 vaccine induced interstitial lung disease. J Infect Chemother. 2022;28(1):95-98. <doi: 10.1016/j.jiac.2021.09.010>
https://www.ncbi.nlm.nih.gov/pubmed/34580010