原著2021年

1 Kimura A, Mizuochi T, Takei H, Ohtake A, Mori J, Shinoda K, Hashimoto T, Kasahara M, Togawa T, Murai T, Iida T, Nittono H. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment Dig Dis Sci. 2021 Nov;66:3885-3892
2 Hori I, Ieda D, Ito S, Ebe S, Nakamura Y, Ohashi K, Aoyama K, Hattori A, Kokubo M, Saitoh S.  Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant. Brain Dev. 43(4):590-595; 2021
3 Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S. Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings. J Autism Dev Disord. 51(12):4655-4662;2021.
4 Negishi Y, Aoki Y, Itomi K, Yasuda K, Taniguchi H, Ishida A, Arakawa T, Miyamoto S, Nakashima M, Saitsu H, Saitoh S. SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation. Brain Dev. 43:804-808; 2021.
5 Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability. Neurol Sci. 42:2975-2978, 2021.
6 Natsume J, Numaguchi A, Ohno A, Mizuno M, Takahashi Y, Okumura A, Yoshikawa T, Saitoh S, Miura K, Noda M.  Death review of children receiving medical care at home. Pediatr Res. Online ahead of print
7 Kato K, Miya F, Oka Y, Mizuno S, Saitoh S. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders.  J Hum Genet. 66:491-498; 2021.
8 Miyake N, Heydari S, Garshasbi M, Saitoh S, Nasiri J, Hamanaka K, Takata A, Matsumoto N, Beheshti FH, Chaleshtori ARS. The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. J Hum Genet. 66:445-448; 2021.
9 Chen YJ, Yu WH, Chen LW, Huang CC, Kang L, Lin HS, Iwata O, Kato S, Hussein MH, Lin YC. Improved Survival of Periviable Infants after Alteration of the Threshold of Viability by the Neonatal Resuscitation Program 2015. Children . 2021 Jan 4;8(1):23. doi: 10.3390/children8010023.
10 Saikusa M, Kinoshita M, Tsuda K, Hisano T, Okada J, Iwata S, Fujino H, Maeno Y, Yamashita Y, Iwata O. Revisions of clinical protocols using the Plan Do Check Act cycle improved outcomes of extremely preterm infants at 2 years. Acta Paediatr. . 2021 Jul;110(7):2100-2109.
11 Lin YC, Wang CY, Pan YW, Chen YJ, Yu WH, Chou YY, Huang CH, Chu WY, Lin CH, Iwata O. Postnatal Serum Total Thyroxine of Very Preterm Infants and Long-Term Neurodevelopmental Outcome. Nutrients. 2021 Mar 24;13(4):1055. doi: 10.3390/nu13041055.
12 Tsuda K,  Shibasaki J, Isayama T, Takeuchi A, Mukai T, Ioroi T, Takahashi A, Sano H, Yutaka N, Iwata S, Nabetani M, Sobajima H, Hosono S, Tamura M, Iwata O; Baby Cooling Registry of Japan. Body temperature, heart rate and long-term outcome of cooled infants: an observational study. Pediatr Res. 2021 Apr 12. doi: 10.1038/s41390-021-01502-w.
13 Nakane S, Tsuda K, Kinoshita M, Kato S, Iwata S, Lin YC, Mizuno M, Saitoh S, Iwata O. Airway gas temperature within endotracheal tube can be monitored using rapid response thermometer. Sci Rep.. 2021 May 5;11(1):9537. doi: 10.1038/s41598-021-88787-3.
14 Mizutani Y,  Kinoshita M, Lin YC, Fukaya S, Kato S, Hisano T, Hida H, Iwata S, Saitoh S, Iwata O. Temporal inversion of the acid-base equilibrium in newborns: an observational study. PeerJ. 2021 Apr 14;9:e11240. doi: 10.7717/peerj.11240.
15 Unno M, Morisaki T, Kinoshita M, Saikusa M, Iwata S, Fukaya S, Yamashita Y, Nakayama M, Saitoh S, Iwata O. Validation of actigraphy in hospitalised newborn infants using video polysomnography. J Sleep Res. . 2021 Jul 15:e13437. doi: 10.1111/jsr.13437.
16 Kawaoka N, Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Saitoh S. Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan. J Autism Dev Disord.. 2021 Jun 3:1–7. doi: 10.1007/s10803-021-05119-0.
17 Kinoshita A, Ohyama K, Tanimura S, Matsuda K, Kishino T, Negishi Y, Asahina N, Shiraishi H, Hosoki K, Tomiwa K, Ishihara N, Mishima H, Mori R, Nakashima M, Saitoh S, Yoshiura KI. Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.  Development. 2021 Aug 2:dev.188755. doi: 10.1242/dev.188755.
18 Hayakawa K, Kawase K, Fujimoto M, Nakamura Y, Saitoh S. Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome. Pediatr Int. 2021 Aug 27;. doi: 10.1111/ped.14644. [Epub ahead of print]
19 Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K.  Four pedigrees with aminoacyl-tRNA synthetase abnormalities.   Neurol Sci.. 2021 Sep 28;. doi: 10.1007/s10072-021-05626-z.
20 Risa T, Michi Kamei, Tomoaki Hattori, Yasuhiko Ito, Makoto Yazaki, Tadashi Matsubayashi, Shinji Saitoh A case of infantile acute lymphoblastic leukemia with bilateral intraocular relapse Nagoya Medical Journal. 56: 221-227,2020
21 Yokoi K, Iwata O, Kobayashi S, Kobayashi M, Saitoh S, Goto H Evidence of both foetal inflamation and hypoxic-ischaemia is associcated with meconium aspiration syndrome. Sci Rep.. 2021 Aug 18; 11(1): 16799
22 Yokoi K, Minamiguchi S, Honda Y, Kobayashi M, Kobayashi S, Nishikomori R Necrotizing Finisitis as an Intrauterine manifestation of  Cryopyrine-Associated Periodic syndrome: case report and review of the literature Pediatr Rheumatol. 2021 May 31; 19(1):  77
23 Isobe K, Ieda D, Miya F, Miyachi R, Otsuji S, Asai M, Tsunoda T, Kosaki K, Hattori A, Saitoh S, Mizuno M. Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.  Brain Dev. 2021 Dec 13; [Epub ahead of print]
24 Okamoto T, Sonoda M, Ogawa E, Ito S, Togawa T, Hayashi H, Okajima H, Uemoto S. Long-Term Outcomes of Living-Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1 J Pediatr Gastroenterol Nutr. 72(3): 425-429; 2021
25 Noda S, Aoyama K, Kondo Y, Okamura J, Suzuki A, Yamaguchi N, Yoshida A, Miyake Y. An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant Hum Genome Var.. 2021 Nov 18;8(1):41. doi: 10.1038/s41439-021-00173-7.

[記事公開日]2021/05/07
[最終更新日]2022/04/01