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2022
【1月】
Kitazawa J‚ Nakadate H‚ Matsubara K‚ Takahashi Y‚ Ishiguro A‚ Inoue E‚ Sasahara Y‚ Fujisawa K‚ Maeda N‚ Oka T‚ Ishii E‚ Imaizumi M; Platelet Committee of the Japanese Society of Pediatric Hematology/Oncology.
Favorable prognosis of vaccine-associated immune thrombocytopenia in children is correlated with young age at vaccination: Retrospective survey of a nationwide disease registry.
Int J Hematol. 115:114-122‚ 2022
Sasahara Y‚ Uchida T‚ Suzuki T‚ Abukawa D.
Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.
Front Immunol. 12:786538‚ 2022
Kirikae H‚ Uematsu M‚ Numata-Uematsu Y‚ Saijo N‚ Katata Y‚ Oikawa Y‚ Kikuchi A‚ Yanagi K‚ Kaname T‚ Haginoya K‚ Kure S.
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.
Brain Dev. 44:148-152‚ 2022
Akiyama S‚ Madan N‚ Graham G‚ Samura O‚ Kitano R‚ Yun HJ‚ Craig A‚ Nakamura T‚ Hozawa A‚ Grant E‚ Im K‚ Tarui T.
Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study.
PLoS One. 17(2):e0263535.
Inui T‚ Wada Y‚ Shibuya M‚ Arai-Ichinoi N‚ Okubo Y‚ Endo W‚ Uchida T‚ Togashi N‚ Naito E‚ Haginoya K.
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency.
Brain Dev. 44:244-248‚ 2022
Moriya K‚ Imamura T‚ Katayama S‚ Kaino A‚ Okamoto K‚ Yokoyama N‚ Uemura S‚ Kitazawa H‚ Sekimizu M‚ Hiramatsu H‚ Usami I‚ Ishida H‚ Hasegawa D‚ Hama A‚ Moriya-Saito A‚ Sato A‚ Sasahara Y‚ Suenobu S‚ Horibe K‚ Hara J; Japan Association of Childhood Leukemia Study Group (JACLS).
The incidence of symptomatic osteonecrosis is similar between Japanese children and children in Western countries with acute lymphoblastic leukaemia treated with a Berlin-Frankfurt-Münster (BFM)95-based protocol.
Br J Haematol. 196:1257-1261‚ 2022
Wada Y‚ Arai-Ichinoi N‚ Kikuchi A‚ Kure S.
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
J Inherit Metab Dis. 45:334-339‚ 2022
Oshikata C‚ Watanabe M‚ Hashimoto K‚ Yamazaki A‚ Kobayashi N‚ Konuma R‚ Ishida M‚ Kobayashi S‚ Shimada T‚ Kaneko T‚ Kamata Y‚ Kuriyama S‚ Kure S‚ Yanai M‚ Tsurikisawa N.
Mite allergen avoidance decreases allergic symptoms in children in Ishinomaki city of Japan after natural disasters.
Allergol Immunopathol (Madr). 50:23-32‚ 2022
【4月】
Usuda H‚ Saito M‚ Ikeda H‚ Sato S‚ Kumagai Y‚ Saito Y‚ Kawamura S‚ Hanita T‚ Sakai H‚ Kure S‚ Yaegashi N‚ Newnham JP‚ Kemp MW‚ Watanabe S.
Assessment of synthetic red cell therapy for extremely preterm ovine fetuses maintained on an artificial placenta life-support platform.
Artif Organs. 46:653-665‚ 2022
Katata Y‚ Uneoka S‚ Saijyo N‚ Aihara Y‚ Miyazoe T‚ Koyamaishi S‚ Oikawa Y‚ Ito Y‚ Abe Y‚ Numata-Uematsu Y‚ Takayama J‚ Kikuchi A‚ Tamiya G‚ Uematsu M‚ Kure S.
The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant.
Am J Med Genet A. 188:1293-1298‚ 2022
Miyamoto S‚ Umeda K‚ Kurata M‚ Yanagimachi M‚ Iguchi A‚ Sasahara Y‚ Okada K‚ Koike T‚ Tanoshima R‚ Ishimura M‚ Yamada M‚ Sato M‚ Takahashi Y‚ Kajiwara M‚ Kawaguchi H‚ Inoue M‚ Hashii Y‚ Yabe H‚ Kato K‚ Atsuta Y‚ Imai K‚ Morio T.
Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985-2016.
J Clin Immunol. 42:529-545‚ 2022
Narishige Y‚ Yaoita H‚ Shibuya M‚ Ikeda M‚ Kodama K‚ Kawahima A‚ Okubo Y‚ Endo W‚ Inui T‚ Togashi N‚ Tanaka S‚ Kobayashi Y‚ Onuma A‚ Takayama J‚ Tamiya G‚ Kikuchi A‚ Kure S‚ Haginoya K.
Two Siblings with Cerebellar Ataxia‚ Mental Retardation‚ and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Tohoku J Exp Med. 256:321-326‚ 2022
Ukishiro K‚ Osawa SI‚ Iwasaki M‚ Kakisaka Y‚ Jin K‚ Uematsu M‚ Yamamoto T‚ Tominaga T‚ Nakasato N.
Age-Related Recovery of Daily Living Activity After 1-Stage Complete Corpus Callosotomy: A Retrospective Analysis of 41 Cases.
Neurosurgery. 90:547-551‚ 2022
Saijo N‚ Abe Y‚ Oikawa Y‚ Okubo Y‚ Endo W‚ Numata-Uematsu Y‚ Takahashi T‚ Uematsu M.
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis.
Brain Dev. 44:353-356‚ 2022
Kogure M‚ Nakamura T‚ Tsuchiya N‚ Hirata T‚ Nochioka K‚ Narita A‚ Hatanaka R‚ Itabashi F‚ Kanno I‚ Obara T‚ Satoh M‚ Metoki H‚ Miyagawa K‚ Koshimizu H‚ Nagayoshi S‚ Uruno A‚ Kikuya M‚ Suzuki K‚ Nakaya N‚ Sugawara J‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Consideration of the reference value and number of measurements of the urinary sodium-to-potassium ratio based on the prevalence of untreated home hypertension: TMM Cohort Study.
Hypertens Res. 45:866-875‚ 2022
Hara J‚ Nitani C‚ Shichino H‚ Kuroda T‚ Hishiki T‚ Soejima T‚ Mori T‚ Matsumoto K‚ Sasahara Y‚ Iehara T‚ Miyamura T‚ Kosaka Y‚ Takimoto T‚ Nakagawara A‚ Tajiri T; Japan Children’s Cancer Group (JCCG) Neuroblastoma Committee (JNBSG).
Outcome of children with relapsed high-risk neuroblastoma in Japan and analysis of the role of allogeneic hematopoietic stem cell transplantation.
Jpn J Clin Oncol. 52:486-492‚ 2022
Itabashi F‚ Hirata T‚ Kogure M‚ Narita A‚ Tsuchiya N‚ Nakamura T‚ Nakaya N‚ Sasaki R‚ Takanashi N‚ Sakata K‚ Tanno K‚ Sugawara J‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Combined associations of liver enzymes and obesity with diabetes mellitus prevalence: The Tohoku Medical Megabank Community-based Cohort Study.
J Epidemiol. 32:221-227‚ 2022
Takase M‚ Nakamura T‚ Hirata T‚ Tsuchiya N‚ Kogure M‚ Itabashi F‚ Nakaya N‚ Hamanaka Y‚ Sugawara J‚ Suzuki K‚ Fuse N‚ Akira U‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Association between fat mass index‚ fat-free mass index‚ and hemoglobin A1c in a Japanese population: The Tohoku Medical Megabank Community-based Cohort Study.
J Diabetes Investig. 13:858-867‚ 2022
Kido J‚ Häberle J‚ Sugawara K‚ Tanaka T‚ Nagao M‚ Sawada T‚ Wada Y‚ Numakura C‚ Murayama K‚ Watanabe Y‚ Kojima-Ishii K‚ Sasai H‚ Kosugiyama K‚ Nakamura K.
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
J Inherit Metab Dis. 45:431-444‚ 2022
Endo Y‚ Fukuzawa T‚ Irie M‚ Sasaki H‚ Kudo H‚ Ando R‚ Okubo R‚ Katayama S‚ Hashimoto M‚ Sato K‚ Tachibana M‚ Aoki H‚ Araya M‚ Hirabayashi K‚ Saito S‚ Masaki H‚ Nakazawa Y‚ Sasahara Y‚ Wada M.
Intraoperative Placement of an Absorbable Spacer Prior to Radiation Therapy for a Malignant Peripheral Nerve Sheath Tumor.
Case Rep Oncol. 15:541-546‚ 2022
【6月】
Noda A‚ Ishikuro M‚ Obara T‚ Murakami K‚ Ueno F‚ Matsuzaki F‚ Onuma T‚ Watanabe Z‚ Shiga N‚ Iwama N‚ Hirotaka H‚ Otsuka T‚ Tachibana M‚ Tomita H‚ Saito M‚ Sugawara J‚ Kure S‚ Yaegashi N‚ Kuriyama S.
Association between maternal infertility treatment and child neurodevelopment: findings from the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Miyagi and Iwate Prefectures‚ Japan.
BMJ Open. 12(6):e060944‚ 2022
【7月】
Kanno I‚ Hasegawa K‚ Nakamura T‚ Kogure M‚ Itabashi F‚ Narita A‚ Tsuchiya N‚ Hirata T‚ Nakaya N‚ Sugawara J‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Relationship between the housing coldness/warmth evaluation by CASBEE Housing Health Checklist and psychological distress based on TMM Community-Based Cohort Study: a cross-sectional analysis.
Public Health. 208:98-104‚ 2022
【8月】
Irie M‚ Nakano T‚ Katayama S‚ Suzuki T‚ Moriya K‚ Watanabe Y‚ Suzuki N‚ Saitoh-Nanjyo Y‚ Onuma M‚ Rikiishi T‚ Niizuma H‚ Sasahara Y‚ Kure S.
Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis.
Cancer Rep (Hoboken). 5(8):e1579‚ 2022
Akaishi T‚ Kushimoto S‚ Katori Y‚ Sugawara N‚ Egusa H‚ Igarashi K‚ Fujita M‚ Kure S‚ Takayama S‚ Abe M‚ Kikuchi A‚ Ohsawa M‚ Ishizawa K‚ Abe Y‚ Imai H‚ Inaba Y‚ Iwamatsu-Kobayashi Y‚ Nishioka T‚ Onodera K‚ Ishii T.
Effectiveness of third vaccine dose for coronavirus disease 2019 during the Omicron variant pandemic: a prospective observational study in Japan.
Sci Rep. 12:13589‚ 2022
【9月】
Sasahara Y‚ Wada T‚ Morio T.
Impairment of cytokine production following immunological synapse formation in patients with Wiskott-Aldrich syndrome and leukocyte adhesion deficiency type 1.
Clin Immunol. 242:109098‚ 2022
Shiga N‚ Yamaguchi-Kabata Y‚ Igeta S‚ Yasuda J‚ Tadaka S‚ Minato T‚ Watanabe Z‚ Kanno J‚ Tamiya G‚ Fuse N‚ Kinoshita K‚ Kure S‚ Kondo A‚ Tachibana M‚ Yamamoto M‚ Yaegashi N‚ Sugawara J.
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Hum Genome Var. 9:34‚ 2022
Hagino M‚ Ota C‚ Onoki T‚ Iwasawa S.
Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.
BMJ Case Rep. 15:e250342‚ 2022
【10月】
Muramoto Y‚ Nihira H‚ Shiokawa M‚ Izawa K‚ Hiejima E‚ Seno H; Japan Pediatric Inflammatory Bowel Disease Working group.
Anti-integrin αvβ6 antibody as a diagnostic marker for pediatric patients with ulcerative colitis.
Gastroenterology. 163:1094-1097.e14‚ 2022
Meguro M‚ Wada Y‚ Kisou Y‚ Sugawara C‚ Akimoto Y‚ Kure S.
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency.
Mol Genet Metab Rep. 33:100923‚ 2022
Kawashima S‚ Yuno A‚ Sano S‚ Nakamura A‚ Ishiwata K‚ Kawasaki T‚ Hosomichi K‚ Nakabayashi K‚ Akutsu H‚ Saitsu H‚ Fukami M‚ Usui T‚ Ogata T‚ Kagami M.
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
J Bone Miner Res. 37(10):1850-1859‚ 2022

【Online ahead of print】
Onoki T‚ Metoki T‚ Iwasawa S‚ Kawano K‚ Kimura M‚ Kure S‚ Ota C.
Two Distinct Cases of Adult-onset Kawasaki Disease.
Intern Med. 2022 Apr 23. doi: 10.2169/internalmedicine.9044-21. Online ahead of print.
Nakano T‚ Sasahara Y‚ Kikuchi A‚ Moriya K‚ Niizuma H‚ Niihori T‚ Shirota M‚ Funayama R‚ Nakayama K‚ Aoki Y‚ Kure S.
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
J Med Genet. 2022 May 9;jmedgenet-2021-108300. doi: 10.1136/jmedgenet-2021-108300. Online ahead of print.
Hirata T‚ Hamanaka Y‚ Sugawara J‚ Suzuki K‚ Fuse N‚ Uruno A‚ Kodama EN‚ Kuriyama S‚ Tsuji I‚ Kure S‚ Hozawa A.
Associations between the Combined Fat Mass Index and Fat-Free Mass Index with Carotid Intima-Media Thickness in a Japanese Population: The Tohoku Medical Megabank Community-Based Cohort Study.
J Atheroscler Thromb. 2022 May 26. doi: 10.5551/jat.63523. Online ahead of print.
Aihara Y‚ Shirota M‚ Kikuchi A‚ Katata Y‚ Abe Y‚ Niihori T‚ Funayama R‚ Nakayama K‚ Aoki Y‚ Kure S.
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
J Hum Genet. 2022 Sep 27. doi: 10.1038/s10038-022-01082-5. Online ahead of print.
Sai M‚ Niizuma H‚ Yagi K‚ Nakano T‚ Katayama S‚ Himori N‚ Irie M‚ Sasahara Y.
Comprehensive genomic profiling suggested multifocal development of retinoblastoma in a single eye.
Pediatr Blood Cancer. 2022 Oct 2;e30031. doi: 10.1002/pbc.30031. Online ahead of print.
Sai M‚ Moriya K‚ Kaino A‚ Suzuki T‚ Katayama S‚ Aoki H‚ Sasahara Y.
Stage M Infantile Neuroblastoma With Involvement of Falx Cerebri: Case Report and Literature Review.
J Pediatr Hematol Oncol. 2022 Sep 19. doi: 10.1097/MPH.0000000000002548. Online ahead of print.
Shirota H‚ Komine K‚ Takahashi M‚ Takahashi S‚ Miyauchi E‚ Niizuma H‚ Tada H‚ Shimada M‚ Niihori T‚ Aoki Y‚ Sugiyama I‚ Kawamura M‚ Yasuda J‚ Suzuki S‚ Iwaya T‚ Saito M‚ Saito T‚ Shibata H‚ Furukawa T‚ Ishioka C.
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
Cancer Med. 2022 Oct 17. doi: 10.1002/cam4.5349. Online ahead of print.
目黒美結、森谷邦彦、崔実結、戒能明、片山紗乙莉、鈴木資、入江正寛、新妻秀剛、笹原洋二、呉繁夫
化学療法後好中球減少症を合併し画像診断により肛門周囲感染症を疑った1例
小児科 63:121-122‚ 2022
天野純、廣瀬陽介、近藤丈太、山口亮、寺井勝、和田陽一、金澤正樹
歩行困難と意識障害の原因精査によりメチレンテトラヒドロ葉酸還元酵素(MTHFR)欠損症と診断した1例
小児科臨床 75(1):95-100‚ 2022
笹原洋二
「小児血液・腫瘍学」診断と治療社
免疫不全を伴う特徴的症候群 p422-426