2016年 発表論文

Hishimura N, Watari M, Ohata H, Fuseya N, Wakiguchi S, Tokutomi T, Okuhara K, Takahashi N, Iizuka S, Yamamoto H, Mishima T, Fujieda S, Kobayashi R, Cho K, Kuroda Y, Kurosawa K(遺伝科), Tonoki H. Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome. Clin Case Rep. 2016;5:5-8.
Nakamura N(放射線科), Inaba Y, Aota Y, Oba M, Machida J(整形外科), Aida N(放射線科), Kurosawa K(遺伝科), Saito T. New radiological parameters for the assessment of atlantoaxial instability in children with Down syndrome: the normal values and the risk of spinal cord injury. Bone Joint J. 2016;98-B:1704-1710.
Umemura K, Iwaki T, Kimura T, Ogawa C, Fukuda T, Taniguchi S, Horibe K, Goto H(血液再生医療科), Yoshimura K, Watanabe Y, Nitani C, Kikuta A. Pharmacokinetics and Safety of Defibrotide in Healthy Japanese Subjects. Clin Pharmacol Drug Dev. 2016;5:548-551.
Sasahara J, Ishii K, Umehara N, Oba M, Kiyoshi K, Murakoshi T, Tanemoto T, Ishikawa H(産婦人科), Ichizuka K, Yoshida A, Tanaka K, Ozawa K, Sago H. Significance of oligohydramnios in preterm small-for-gestational-age infants for outcome at 18 months of age. J Obstet Gynaecol Res. 2016;42:1451-1456.
Umeda K, Adachi S, Tanaka S, Miki M, Okada K, Hashii Y, Inoue M, Cho Y, Koh K, Goto H(血液再生医療科), Kajiwara R, Hyakuna N, Kato K, Morio T, Yabe H. Inherited Disease Working Group of the Japan Society for Hematopoietic Cell Transplantation. Comparison of second transplantation and donor lymphocyte infusion for donor mixed chimerism after allogeneic stem cell transplantation for nonmalignant diseases. Pediatr Blood Cancer. 2016;63:2221-2229.
Sakaguchi H, Watanabe N, Matsumoto K, Yabe H, Kato S, Ogawa A, Inagaki J, Goto H(血液再生医療科), Koh K, Yoshida N, Kato K, Cho Y, Kosaka Y, Takahashi Y, Inoue M, Kato K, Atsuta Y, Miyamura K; Donor/Source Working Group of Japan Society of Hematopoietic Cell Transplantation. Comparison of Donor Sources in Hematopoietic Stem Cell Transplantation for Childhood Acute Leukemia: A Nationwide Retrospective Study. Biol Blood Marrow Transplant. 2016;22:2226-2234.
Mihara T, Ishii T, Ka K(麻酔科), Goto T. Effects of Steroids on Quality of Recovery and Adverse Events after General Anesthesia: Meta-Analysis and Trial Sequential Analysis of Randomized Clinical Trials. PLoS One. 2016;11:e0162961.
Shibasaki J, Toyoshima K, Kishigami M(新生児科). Blood pressure and aEEG in the 96h after birth and correlations with neurodevelopmental outcome in extremely preterm infants. Early Hum Dev. 2016;101:79-84.
Miyata M, Toyoshima K(新生児科), Yoda H, Murase M, Kawato H, Yamamoto K, Tanaka K, Kotani M, Kobayashi M. Extensive use of vasodilator agents and functional echocardiography to monitor extremely-low-birth-weight infants in Japan. J Neonatal Perinatal Med. 2016;9:261-269.
Sato R, Takanashi J, Tsuyusaki Y(神経内科), Kato M, Saitsu H, Matsumoto N, Takahashi T. Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. Pediatrics. 2016;138. pii: e20160897.
Sato T, Muroya K, Hanakawa J(内分泌代謝科), Yamashita S(神経内科), Nozawa K, Masudo K, Yamakawa T, Asakura Y(内分泌代謝科), Hasegawa T, Adachi M(内分泌代謝科). Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report. Clin Pediatr Endocrinol. 2016;25:91-98.
Oue T, Koshinaga T, Takimoto T, Okita H, Tanaka Y(病理診断科), Nozaki M, Haruta M, Kaneko Y, Fukuzawa M; Renal Tumor Committee of the Japanese Children's Cancer Group. Anaplastic histology Wilms' tumors registered to the Japan Wilms' Tumor Study Group are less aggressive than that in the National Wilms' Tumor Study 5. Pediatr Surg Int. 2016;32:851-855.
Tomiyasu M, Aida N(放射線科), Shibasaki J(新生児科), Tachibana Y(放射線科), Endo M(新生児科), Nozawa K(放射線科), Shimizu E ,Tsuji H, Obata T(放射線科). Normal lactate concentration range in the neonatal brain. Magn Reson Imaging. 2016;34:1269-1273.
Suzuki T, Miyake N, Tsurusaki Y(臨床研究所), Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y(神経内科), Kurosawa K(遺伝科), Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet. 2016;90:526-535.
Tsujimoto S, Yanagimachi M, Tanoshima R, Urayama KY, Tanaka F, Aida N(放射線科), Goto H(血液再生医療科), Ito S. Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies. Pediatr Blood Cancer. 2016;63:1983-1989.
Kojima K, Anzai R(神経内科), Ohba C, Goto T(神経内科), Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. Brain Dev. 2016;38:959-963.
Kohashi K, Tanaka Y(病理診断科), Kishimoto H, Yamamoto H, Yamada Y, Taguchi T, Iwamoto Y, Oda Y. Reclassification of rhabdoid tumor and pediatric undifferentiated/unclassified sarcoma with complete loss of SMARCB1/INI1 protein expression: three subtypes of rhabdoid tumor according to their histological features. Mod Pathol. 2016;29:1232-1242.
Tamaura M, Iwasaki F, Yokosuka T, Fukuda K, Hamonoue S, Goto H(血液再生医療科). Philadelphia chromosome-positive acute lymphoblastic leukemia and Down syndrome. Pediatr Int. 2016;58:794-797.
Satake T, Nakasone R, Kobayashi S(形成外科), Maegawa J. Immediate breast reconstruction using the free lumbar artery perforator flap and lateral thoracic vein interposition graft for recipient lateral thoracic artery anastomosis. Indian J Plast Surg. 2016;49:91-94.
Saitsu H, Sonoda M, Higashijima T, Shirozu H, Masuda H, Tohyama J, Kato M, Nakashima M, Tsurusaki Y(臨床研究所), Mizuguchi T, Miyatake S, Miyake N, Kameyama S, Matsumoto N. Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. Ann Clin Transl Neurol. 2016;3:356-365.
Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M(内分泌代謝科), Toyoshima K(新生児科), Tanaka Y(病理診断科), Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat Genet. 2016;48:792-797.
Imamura T, Kiyokawa N, Kato M, Imai C, Okamoto Y, Yano M, Ohki K, Yamashita Y, Kodama Y, Saito A, Mori M, Ishimaru S, Deguchi T, Hashii Y, Shimomura Y, Hori T, Kato K, Goto H(血液再生医療科), Ogawa C, Koh K, Taki T, Manabe A, Sato A, Kikuta A, Adachi S, Horibe K, Ohara A, Watanabe A, Kawano Y, Ishii E, Shimada H. Characterization of pediatric Philadelphia-negative B-cell precursor acute lymphoblastic leukemia with kinase fusions in Japan. Blood Cancer J. 2016;6:e419.
Saito J, Shibasaki J, Shimokaze T, Kishigami M, Ohyama M, Hoshino R, Toyoshima K, Itani Y(新生児科). Temporal Relationship between Serum Levels of Interleukin-6 and C-Reactive Protein in Therapeutic Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy. Am J Perinatol. 2016;33:1401-1406.
Sarashina T(血液再生医療科), Iwabuchi H, Miyagawa N, Sekimizu M, Yokosuka T, Fukuda K, Hamanoue S, Iwasaki F, Goto S, Shiomi M(血液再生医療科), Imai C, Goto H(血液再生医療科). Hematopoietic stem cell transplantation for pediatric mature B-cell acute lymphoblastic leukemia with non-L3 morphology and MLL-AF9 gene fusion: three case reports and review of the literature. Int J Hematol. 2016;104:139-143.
Shinkai M, Mochizuki K, Kitagawa N, Take H, Usui H, Yamoto KN, Fujita S, Ohhama Y(外科). Usefulness of a recanalized umbilical vein for vascular reconstruction in pediatric hepatic surgery. Pediatr Surg Int. 2016;32:553-558.
Aida N, Niwa T, Fujii Y, Nozawa K, Enokizono M(放射線科), Murata K, Obata T. Quiet T1-Weighted Pointwise Encoding Time Reduction with Radial Acquisition for Assessing Myelination in the Pediatric Brain. AJNR Am J Neuroradiol. 2016;37:1528-1534.
Akiyama T, Osaka H(神経内科), Shimbo H, Kuhara T, Shibata T, Kobayashi K, Kurosawa K(遺伝科), Yoshinaga H. SSADH deficiency possibly associated with enzyme activity-reducing SNPs. Brain Dev. 2016;38:871-874.
Nakashima M, Takano K, Tsuyusaki Y(神経内科), Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N(放射線科), Mizuguchi T, Miyatake S, Miyake N, Osaka H(神経内科), Saitsu H, Matsumoto N. WDR45 mutations in three male patients with West syndrome. J Hum Genet. 2016;61:653-661.
Oba M(整形外科), Inaba Y, Machida J(整形外科), Saito T. Giant cell tumour of the femur in a 9-year-old girl, resulting in severe leg length discrepancy. BMJ Case Rep. 2016 Mar 21;2016. pii: bcr2015214265. doi: 10.1136/bcr-2015-214265.
Akiyama S, Ito K, Kim WJ(泌尿器科), Tanaka Y(病理診断科), Yamazaki Y(泌尿器科). Prepubertal testicular tumors: a single-center experience of 44 years. J Pediatr Surg. 2016;51:1351-1354.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K(内分泌代謝科), Horikawa R, Kanno J, Adachi M(内分泌代謝科), Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y(内分泌代謝科), Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M. Japanese SHOX study group. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. J Hum Genet. 2016;61:585-591.
Goto S, Goto H, Yokosuka T(血液再生医療科). The combination effects of bendamustine with antimetabolites against childhood acute lymphoblastic leukemia cells. Int J Hematol. 2016;103:572-583.
Niwa T, de Vries LS, Manten GT, Lequin M, Cuppen I, Shibasaki J(新生児科), Aida N(放射線科). Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series. Neuropediatrics. 2016;47:115-118.
Tsuji M, Takahashi Y, Watabe AM, Kato F(神経内科). Enhanced long-term potentiation in mature rats in a model of epileptic spasms with betamethasone-priming and postnatal N-methyl-D-aspartate administration. Epilepsia. 2016;57:495-505.
Tomotaki S, Shibasaki J, Yunoki Y, Kishigami M(新生児科), Imagawa T(感染免疫科), Aida N(放射線科), Toyoshima K, Itani Y(新生児科). Effectiveness of Corticosteroid Therapy for Acute Neurological Symptoms in Incontinentia Pigmenti. Pediatr Neurol. 2016;56:55-58.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H(神経内科), Kurosawa K(遺伝科), Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev. 2016;38:571-580.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K(遺伝科), Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements. J Hum Genet. 2016;61:335-343.
Omata T, Nagai J, Shimbo H, Koizume S(臨床研究所), Miyagi Y, Kurosawa K, Yamashita S, Osaka H(臨床研究所), Inoue K. A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease. Brain Dev. 2016;38:581-584.
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K(遺伝科), Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Hum Genet. 2016;135:209-222.
Murakami A, Tanaka M, Ijiri R, Kato K(病理診断科), Yamashita S(神経内科), Kurosawa K(遺伝科), Arai N, Aoki I, Tanaka Y(病理診断科). A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. Pathol Int. 2016;66:15-22.
Ishida Y, Qiu D, Maeda M, Fujimoto J, Kigasawa H(血液再生医療科), Kobayashi R, Sato M, Okamura J, Yoshinaga S, Rikiishi T, Shichino H, Kiyotani C, Kudo K, Asami K, Hori H, Kawaguchi H, Inada H, Adachi S, Manabe A, Kuroda T. Secondary cancers after a childhood cancer diagnosis: a nationwide hospital-based retrospective cohort study in Japan. Int J Clin Oncol. 2016;21:506-516.
Nakashima M, Kouga T(神経内科), Lourenço CM, Shiina M, Goto T(神経内科), Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H(神経内科), Matsumoto N. De novo DNM1 mutations in two cases of epileptic encephalopathy. Epilepsia. 2016;57:e18-23.
Suzuki T, Yamaguchi H, Kikusato M, Hashizume O, Nagatoishi S, Matsuo A, Sato T, Kudo T, Matsuhashi T, Murayama K, Ohba Y, Watanabe S, Kanno S, Minaki D, Saigusa D, Shinbo H(神経内科), Mori N, Yuri A, Yokoro M, Mishima E, Shima H, Akiyama Y, Takeuchi Y, Kikuchi K, Toyohara T, Suzuki C, Ichimura T, Anzai J, Kohzuki M, Mano N, Kure S, Yanagisawa T, Tomioka Y, Toyomizu M, Tsumoto K, Nakada K, Bonventre JV, Ito S, Osaka H, Hayashi K, Abe T. Mitochonic Acid 5 Binds Mitochondria and Ameliorates Renal Tubular and Cardiac Myocyte Damage. J Am Soc Nephrol. 2016;27:1925-1932.
Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M(病理診断科), Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ. The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney. Genes Chromosomes Cancer. 2016;55:143-147.
Kuroda T, Nishijima E, Maeda K, Fuchimoto Y, Hirobe S, Tazuke Y, Nozawa K(放射線科), Matsuoka K, Usui N. Clinical Features of Congenital Cystic Lung Diseases: A Report on a Nationwide Multicenter Study in Japan. Eur J Pediatr Surg. 2016;26:91-95.
Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N(放射線科), Inaba Y, Fukushima Y, Kosho T Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature. Am J Med Genet A. 2016;170A:322-328.
Taga T, Watanabe T, Tomizawa D, Kudo K, Terui K, Moritake H, Kinoshita A, Iwamoto S, Nakayama H, Takahashi H, Shimada A, Taki T, Toki T, Ito E, Goto H(血液再生医療科), Koh K, Saito AM, Horibe K, Nakahata T, Tawa A, Adachi S. Preserved High Probability of Overall Survival with Significant Reduction of Chemotherapy for Myeloid Leukemia in Down Syndrome: A Nationwide Prospective Study in Japan. Pediatr Blood Cancer. 2016;63:248-254.
Nakamura N(整形外科), Inaba Y, Machida J(整形外科), Saito T. Use of glenoid inclination angle for the assessment of unilateral congenital high scapula. J Pediatr Orthop B. 2016;25:54-61.
Imamura H, Muroya K(内分泌代謝科), Tanaka E, Konomoto T, Moritake H, Sato T, Kimura N, Takekoshi K, Nunoi H. Sporadic paraganglioma caused by de novo SDHB mutations in a 6-year-old girl. Eur J Pediatr. 2016;175:137-141.
Nagase H, Ishikawa H(産婦人科), Toyoshima K, Itani Y(新生児科), Furuya N, Kurosawa K(遺伝科), Hirahara F, Yamanaka M. Fetal outcome of trisomy 18 diagnosed after 22 weeks of gestation: Experience of 123 cases at a single perinatal center. Congenit Anom (Kyoto). 2016;56:35-40
Yasuda S, Imoto K, Uchida K, Uranaka Y, Kurosawa K(遺伝科), Masuda M. Subclavian artery aneurysm in a patient with vascular Ehlers-Danlos syndrome. Asian Cardiovasc Thorac Ann. 2016;24:187-189.
Tominaga T, Asou T, Takeda Y, Sasaki T, Ohnakatomi Y(心臓血管外科), Ueda H, Yasui S(循環器内科). Coronary angioplasty for congenital obstruction of the left main coronary artery. Gen Thorac Cardiovasc Surg. 2016;64:156-159.