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2022年度


Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. Ishida A, Mizuno H, Aoyama K, Sasaki S, Negishi Y, Arakawa T, Mori T. Clin Pediatr Endocrinol. 2022;31(1):44-49. doi: 10.1297/cpe.2021-0029. Epub 2021 Nov 1.

Determination of Severe Peach Allergens, Gibberellin-Regulated Protein, and Lipid Transfer Protein, Using Monoclonal Antibodies. Okazaki F, Momma K, Hirakawa Y, Kawai N, Yamaguchi-Murakami Y, Adachi R, Mori Y, Kondo Y, Narita H. J Nutr Sci Vitaminol (Tokyo). 2022;68(3):221-227. doi: 10.3177/jnsv.68.221.

A double heterozygous variant in MYH6 and MYH7 associated with hypertrophic cardiomyopathy in a Japanese Family. Suzuki T, Saito K, Yoshikawa T, Hirono K, Hata Y, Nishida N, Yasuda K, Nagashima M. Journal of Cardiology Cases. 2022 Apr;25(4):213-217. doi: org/10.1016/j.jccase.2021.09.011.

Atresia of the right coronary arterial ostium with a left ventricular fistula: A case report. Suzuki T, Miyagawa-Tomita S, Saito K, Yoshikawa T, Kawai S, Yasuda K. J Cardiol Cases. 2022 Apr 7;26(2):88-91. doi: 10.1016/j.jccase.2022.03.005. eCollection 2022 Aug.

Prevalence of infantile wheezing and eczema in a metropolitan city in Japan: A complete census survey. Futamura M, Hiramitsu Y, Kamioka N, Yamaguchi C, Umemura H, Nakanishi R, Sugiura S, Kondo Y, Ito K. PLoS One. 2022 May 5;17(5):e0268092. doi: 10.1371/journal.pone.0268092. eCollection 2022.

Low- versus high-concentration intravenous immunoglobulin for children with Kawasaki disease in the acute phase. Suzuki T, Michihata N, Yoshikawa T, Saito K, Matsui H, Fushimi K, Yasunaga H. Int J Rheum Dis. 2022 May;25(5):576-583. doi: 10.1111/1756-185X.14309. Epub 2022 Mar 8.

Transient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome. Kumagai N, Kondoh T, Matsumoto Y, Ikezumi Y. Tohoku J Exp Med. 2022 May 28;257(1):73-76. doi: 10.1620/tjem.2022.J015. Epub 2022 Mar 31.

Generalized allergic reaction in response to exercise due to strawberry gibberellin-regulated protein: a case report. Inuo C, Okazaki F, Shiraki R, Tanaka Y, Momma K, Kondo Y, Narita H. Allergy Asthma Clin Immunol. 2022 Jun 11;18(1):49. doi: 10.1186/s13223-022-00692-0.

Association of steroid administration with larger coronary artery abnormalities in patients with Kawasaki disease. Suzuki T, Kawai S, Morihana E, Kawabe S, Iwata N, Saito K, Yoshikawa T, Yasuda K. Cardiol Young. 2022 Jul 14:1-5. doi: 10.1017/S1047951122002104. Online ahead of print.

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2. Maruwaka K, Nakajima Y, Yamada T, Tanaka T, Kosaki R, Inagaki H, Kosaki K, Kurahashi H. Am J Med Genet A. 2022 Jul;188(7):2246-2250.

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice. Yamaguchi N, Suzuki A, Yoshida A, Tanaka T, Aoyama K, Oishi H, Hara Y, Ogi T, Amano I, Kameo S, Koibuchi N, Shibata Y, Ugawa S, Mizuno H, Saitoh S. Sci Rep. 2022 Jul 4;12(1):11259. doi: 10.1038/s41598-022-15151-4.

BRAF V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis. Kudo K, Toki T, Kanezaki R, Tanaka T, Kamio T, Sato T, Sasaki S, Imamura M, Imai C, Ando K, Kakuda H, Doi T, Kawaguchi H, Irie M, Sasahara Y, Tamura A, Hasegawa D, Itakura Y, Watanabe K, Sakamoto K, Shioda Y, Kato M, Kudo K, Fukano R, Sato A, Yagasaki H, Kanegane H, Kato I, Umeda K, Adachi S, Kataoka T, Kurose A, Nakazawa A, Terui K, Ito E. Haematologica. 2022 Jul 1;107(7):1719-1725. doi: 10.3324/haematol.2021.279857.

[Elucidated pathogenesis and therapeutic prospects in Langerhans cell histiocytosis] Morimoto A, Shioda Y, Sakamoto K, Kudo K, Imamura T, Kudo K. Rinsho Ketsueki. 2022;63(5):373-382. doi: 10.11406/rinketsu.63.373.

Clinical Features of Kawasaki Disease With Atlantoaxial Rotatory Fixation. Michihata N, Suzuki T, Honda A, Oka I, Yoshikawa T, Saito K, Matsui H, Fushimi K, Yasunaga H. Pediatr Infect Dis J. 2022 Aug 1;41(8):626-630. doi: 10.1097/INF.0000000000003571. Epub 2022 Jul 13.

A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report. Kumagai N, Matsumoto Y, Kondoh T, Ikezumi Y. Hum Genome Var. 2022 Aug 31;9(1):30. doi: 10.1038/s41439-022-00209-6.

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6.

A case of food-dependent exercise-induced anaphylaxis due to grape gibberellin-regulated protein. Kobayashi T, Shimojo N, Nakamura M, Matsunaga K, Nakata J, Tagami K, Momma K, Narita H, Kondo Y. Pediatr Allergy Immunol. 2022 Sep;33(9):e13850. doi: 10.1111/pai.13850.

Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. Yokoi K, Nakajima Y, Sudo Y, Mariya T, Kawamura R, Tsutsumi M, Inagaki H, Yoshikawa T, Ito T, Kurahashi H. JIMD Rep. 2022 Sep 20;63(6):575-580. doi: 10.1002/jmd2.12333. eCollection 2022 Nov.

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant. Shichiri Y, Kato Y, Inagaki H, Kato T, Ishihara N, Miyata M, Boda H, Kojima A, Miyake M, Kurahashi H. Congenit Anom (Kyoto). 2022 Sep;62(5):203-207. doi: 10.1111/cga.12482. Epub 2022 Jul 6

Early immunological responses to the mRNA SARS-CoV-2 vaccine in patients with neuromuscular disorders. Iwayama H, Ishihara N, Kawahara K, Madokoro Y, Togawa Y, Muramatsu K, Murakami A, Kuru S, Kumagai T, Ohashi W, Nanya K, Hasegawa S, Katsuno M, Okumura A. Front Immunol. 2022 Sep 29;13:996134. doi: 10.3389/fimmu.2022.996134. eCollection 2022.

Retrospective immunohistochemical analysis of human cytomegalovirus infection in the placenta and its association with fetal growth restriction. Funato Y, Higashimoto Y, Kawamura Y, Sakabe Y, Iwakura M, Ihira M, Shiogama K, Miyata M, Nishizawa H, Sekiya T, Fujii T, Kosugi I and Yoshikawa T. Fujita Med J. 2022 Vol. advpub. doi: 10.20407/fmj.2022-001

Association between intravenous immunoglobulin dose and outcomes in patients with acute Kawasaki disease. Michihata N, Suzuki T, Yoshikawa T, Saito K, Matsui H, Fushimi K, Yasunaga H. Eur J Pediatr. 2022 Oct;181(10):3607-3615. doi: 10.1007/s00431-022-04563-z. Epub 2022 Aug 4.

An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion. Matsumoto Y, Ikezumi Y, Kondoh T, Yokoi K, Nakajima Y, Kumagai N, Kato T, Kurahashi H, Ito T. Tohoku J Exp Med. 2022 Oct 25;258(3):183-193. doi: 10.1620/tjem.2022.J076. Epub 2022 Sep 8.

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. Yokoi K, Nakajima Y, Takahashi Y, Hamajima T, Tajima G, Saito K, Miyai S, Inagaki H, Yoshikawa T, Kurahashi H, Ito T. JIMD Rep. 2022 Oct 27;64(1):3-9. doi: 10.1002/jmd2.12275. eCollection 2023 Jan.

Unremarkable antibody responses against various infectious agents after inoculation with the BNT162b2 COVID-19 vaccine. Kozawa K, Miura H, Kawamura Y, Higashimoto Y, Ihira M, Yoshikawa T. J Med Virol. 2022 Oct;94(10):4583-4585. doi: 10.1002/jmv.27895. Epub 2022 Jun 9.

Usefulness of three-dimensional computed tomography venography differentiating calvarium subperiosteal hematoma crossing the suture lines due to hair pulling from subgaleal hematoma: case report and review of the literature. Matsumura K, Muto J, Tanaka M, Joko M, Yoshikawa T, Hirose Y.
Childs Nerv Syst. 2022 Oct;38(10):2017-2020. doi: 10.1007/s00381-022-05517-4. Epub 2022 Apr 5.

Comprehensive Sequence Analysis of Parvalbumins in Fish and Their Comparison with Parvalbumins in Tetrapod Species. Dijkstra JM, Kondo Y. Biology (Basel). 2022 Nov 25;11(12):1713. doi: 10.3390/biology11121713.

Mizoribine halts kidney fibrosis in childhood IgA nephropathy: association with modulation of M2-type macrophages. Ikezumi Y, Yoshikane M, Kondoh T, Matsumoto Y, Kumagai N, Kaneko M, Hasegawa H, Yamada T, Suzuki T, Nikolic-Paterson DJ. Pediatr Nephrol. 2022 Nov 10. doi: 10.1007/s00467-022-05786-w. Online ahead of print.

TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan. Wakamatsu M, Kojima D, Muramatsu H, Okuno Y, Kataoka S, Nakamura F, Sakai Y, Tsuge I, Ito T, Ueda K, Saito A, Morihana E, Ito Y, Ohashi N, Tanaka M, Tanaka T, Kojima S, Nakajima Y, Ito T, Takahashi Y. J Clin Immunol. 2022 Nov;42(8):1696-1707. doi: 10.1007/s10875-022-01335-0. Epub 2022 Jul 28.

Correlation between anti-S IgG and neutralizing antibody titers against three live SARS-CoV-2 variants in BNT162b2 vaccine recipients. Higashimoto Y, Kozawa K, Miura H, Kawamura Y, Ihira M, Hiramatsu H, Suzuki R, Haga K, Takai-Todaka R, Sawada A, Katayama K, Yoshikawa T. Hum Vaccin Immunother. 2022 Nov 30;18(6):2105611. doi: 10.1080/21645515.2022.2105611. Epub 2022 Sep 12.

Rotavirus genotypes and clinical outcome of natural infection based on vaccination status in the post-vaccine era. Kozawa K, Higashimoto Y, Kawamura Y, Miura H, Negishi T, Hattori F, Ihira M, Komoto S, Taniguchi K, Yoshikawa T. Hum Vaccin Immunother. 2022 Dec 31;18(1):2037983. doi: 10.1080/21645515.2022.2037983. Epub 2022 Mar 3.

Human herpesvirus 6 DNA was not detected in a brain specimen from a patient with mesial temporal sclerosis after status epilepticus due to human herpesvirus 6 infection. Kawamura Y, Maesawa S, Numoto S, Saito R, Yoshikawa T, Okumura A. Epilepsia Open. 2022 Dec;7(4):817-821. doi: 10.1002/epi4.12634. Epub 2022 Aug 23.

Effect of Hypothermia on Myocardial Depolarization and Repolarization in Neonates with Hypoxic-Ischemic Encephalopathy Due to Asphyxia. Manabe M, Fujino M, Kusuki H, Sadanaga T, Hata T, Bouda H, Miyata M, Yoshikawa T. Pediatr Cardiol. 2022 Dec;43(8):1792-1798. doi: 10.1007/s00246-022-02916-x. Epub 2022 Jun 7.

Cross-antigen analysis for allergies to multiple legumes (azuki beans, runner beans, white pea beans). Hamada M, Sato N, Nakamura M, Shimojo N, Aoki Y, Yagami A, Kondo Y, Matsunaga K. Allergol Int. 2023 Jan;72(1):182-184. doi: 10.1016/j.alit.2022.09.002. Epub 2022 Oct 1.

Clinical risk factors at 3 months of age for the development of bronchial asthma at 36 months of age. Sugiura S, Hiramitsu Y, Futamura M, Kamioka N, Yamaguchi C, Umemura H, Kondo Y, Ito K. Pediatr Int. 2023 Jan-Dec;65(1):e15530. doi: 10.1111/ped.15530.

Systemic herpes simplex virus infection in a child with eczema herpeticum. Akamatsu M, Kawamura Y, Miura H, Sugimoto E, Okamoto K, Nakajima Y, Kozawa K, Furukawa G, Tanaka M, Kudo K, Yoshikawa T. Pediatr Dermatol. 2023 Jan 22. doi: 10.1111/pde.15253. Online ahead of print.

Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis. Suzuki T, Ito Y, Ito T, Kidokoro H, Noritake K, Tsujimura K, Saitoh S, Yamamoto H, Ochi N, Ishihara N, Yasui I, Sugiura H, Nakata T, Natsume J. Eur J Paediatr Neurol. 2023 Jan;42:15-21. doi: 10.1016/j.ejpn.2022.11.010. Epub 2022 Dec 5.