診療科・局・施設のご案内

臨床研究所

2015年 発表論文

Asakura Y, Muroya K, Hanakawa J, Sato T (内分泌代謝科), Aida N (放射線科), Narumi S, Hasegawa T, Adachi M (内分泌代謝科). Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. Clin Pediatr Endocrinol. 2015;24:27-32.
Goto H (血液再生医療科), Kaneko T, Shioda Y, Kajiwara M, Sakashita K, Kitoh T, Hayakawa A, Miki M, Kato K, Ogawa A, Hashii Y, Inukai T, Kato C, Sakamaki H, Yabe H, Suzuki R, Kato K. Hematopoietic stem cell transplantation for patients with acute lymphoblastic leukemia and Down syndrome. Pediatr Blood Cancer. 2015;62:148-152.
Okada H, Maru M, Maeda R, Iwasaki F (血液再生医療科), Nagasawa M, Takahashi M. Impact of childhood cancer on maternal employment in Japan. Cancer Nurs. 2015;38:23-30.
Kuroda Y (遺伝科), Saito T, Nagai J (臨床研究所), Ida K, Naruto T (遺伝科), Masuno M, Kurosawa K (遺伝科). Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. Am J Med Genet A. 2015;167A:389-393.
Kodera H, Osaka H, Iai M (神経内科), Aida N (放射線科), Yamashita A, Tsurusaki Y (臨床研究室), Nakashima M, Miyake N, Saitsu H, Matsumoto N. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet. 2015;60:97-101.
Mori M, Kobayashi R, Kato K, Maeda N, Fukushima K, Goto H (血液再生医療科), Inoue M, Muto C, Okayama A, Watanabe K, Liu P. Pharmacokinetics and safety of voriconazole intravenous-to-oral switch regimens in immunocompromised Japanese pediatric patients. Antimicrob Agents Chemother. 2015; 59:1004-1013.
Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S (神経内科), Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels. Hum Mol Genet. 2015;24:637-648.
Kouga T, Shimbo H, Iai M, Yamashita S (神経内科), Ishii A, Ihara Y, Hirose S, Yamakawa K, Osaka H (神経内科). Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome. Brain Dev. 2015;37:243-249.
Yamamoto K (総合診療科), Kitagawa N (外科), Takamasu T (アレルギー科). Standard values of rapid turnover proteins and zinc in Japanese children. Asia Pac J Clin Nutr. 2015;24:504-508.
Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K (内分泌代謝科), Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Hum Reprod. 2015;30:499-506.
Wada T, Takano K, Tsurusaki Y (臨床研究室), Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H. Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. Pediatr Int. 2015; 57:324-326.
Kitagawa N, Shinkai M, Take H, Mochizuki K, Asano F, Usui H, Miyagi H (外科), Kido T, Kurauchi N, Osaka H, Yamashita S (神経内科). Mediastinoscopic extended thymectomy for pediatric patients with myasthenia gravis. J Pediatr Surg. 2015;50:528-530.
Kitagawa N, Shinkai M, Mochizuki K, Usui H, Miyagi H, Nakamura K (外科), Tanaka M, Tanaka Y (病理診断科), Kusano M, Ohtsubo S. Navigation using indocyanine green fluorescence imaging for hepatoblastoma pulmonary metastases surgery. Pediatr Surg Int. 2015;31:407-411.
Tamaura M, Shimbo H, Iai M, Yamashita S, Osaka H (神経内科). Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. Brain Dev. 2015;37:442-445.
Asakura Y (内分泌代謝科), Abe K, Muroya K, Hanakawa J, Oto Y (内分泌代謝科), Narumi S, Hasegawa T, Adachi M (内分泌代謝科). Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1. Horm Res Paediatr . 2015;84:349-354.
Isayama T, Ye XY, Tokumasu H, Chiba H, Mitsuhashi H, Shahrook S, Kusuda S, Fujimura M, Toyoshima K (新生児科), Mori R; Neonatal Research Network of Japan. The effect of professional-led guideline workshops on clinical practice for the management of patent ductus arteriosus in preterm neonates in Japan: a controlled before-and-after study. Implement Sci. 2015;10:67.
Takaki S, Mihara T (麻酔科), Mizutani K, Yamaguchi O, Goto T. Evaluation of an oxygen mask-based capnometry device in subjects extubated after abdominal surgery. Respir Care. 2015;60:705-710.
Kobayashi N, Takezaki S, Kobayashi I, Iwata N, Mori M, Nagai K, Nakano N, Miyoshi M, Kinjo N, Murata T, Masunaga K, Umebayashi H, Imagawa T (感染免疫科), Agematsu K, Sato S, Kuwana M, Yamada M, Takei S, Yokota S, Koike K, Ariga T. Clinical and laboratory features of fatal rapidly progressive interstitial lung disease associated with juvenile dermatomyositis. Rheumatology (Oxford). 2015;54:784-791.
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y (遺伝科), Saito T, Nagai J (臨床研究所), Wada T (神経内科), Kurosawa K (遺伝科). Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. Am J Med Genet A. 2015;167:1349-1353.
Kobayashi S (形成外科), Hirakawa T, Fukawa T, Maegawa J. Maxillary growth after maxillary protraction: Appliance in conjunction with presurgical orthopedics, gingivoperiosteoplasty, and Furlow palatoplasty for complete bilateral cleft lip and palate patients with protruded premaxilla. J Plast Reconstr Aesthet Surg. 2015;68:758-763.
Mori M, Imaizumi M, Ishiwada N, Kaneko T, Goto H (血液再生医療科), Kato K, Hara J, Kosaka Y, Koike K, Kawamoto H, Maeda N, Yoshinari T, Kishino H, Takahashi K, Kawahara S, Kartsonis NA, Komada Y. Pharmacokinetics, efficacy, and safety of caspofungin in Japanese pediatric patients with invasive candidiasis and invasive aspergillosis. J Infect Chemother. 2015;21:421-426.
Nishinarita R, Mihara T (麻酔科), Nakamura N (整形外科), Miyamoto Y (内分泌代謝科), Ka K (麻酔科). Anesthetic management of pediatric patients with Emanuel syndrome. J Anesth. 2015;29:450-452.
Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S (神経内科), Okabe T, Aida N (放射線科), Tsurusaki Y (臨床研究室), Saitsu H, Matsumoto N, Osaka H (神経内科). A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. Brain Dev. 2015;37:638-642.
Miyake F, Kuroda Y, Naruto T, Ohashi I (遺伝科), Takano K (神経内科), Kurosawa K (遺伝科). West syndrome in a patient with Schinzel-Giedion syndrome. J Child Neurol. 2015;30:932-936.
Goto M, Miyagawa N (血液再生医療科), Kikunaga K, Miura M, Hasegawa Y. Single serum cortisol values at 09:00 h can be indices of adrenocortical function in children with Kawasaki disease treated with intravenous immunoglobulin plus prednisolone. Clin Pediatr Endocrinol. 2015;24:69-75.
Mass Screening Committee; Japanese Society for Pediatric Endocrinology; Japanese Society for Mass Screening, Ishii T, Anzo M, Adachi M (内分泌代謝科), Onigata K, Kusuda S, Nagasaki K, Harada S, Horikawa R, Minagawa M, Minamitani K, Mizuno H, Yamakami Y, Fukushi M, Tajima T. Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision). Clin Pediatr Endocrinol. 2015;24:77-105.
Mass Screening Committee; Japanese Society for Pediatric Endocrinology; Japanese Society for Mass Screening, Nagasaki K, Minamitani K, Anzo M, Adachi M (内分泌代謝科), Ishii T, Onigata K, Kusuda S, Harada S, Horikawa R, Minagawa M, Mizuno H, Yamakami Y, Fukushi M, Tajima T. Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision). Clin Pediatr Endocrinol. 2015;24:107-133.
Oto Y, Muroya K, Hanakawa J, Asakura Y, Adachi M (内分泌代謝科). The ratio of serum free triiodothyronine to free thyroxine in children: a retrospective database survey of healthy short individuals and patients with severe thyroid hypoplasia or central hypothyroidism. Thyroid Res. 2015;8:10.
Seki M, Nishimura R, YoshIda K, Shimamura T, Shiraishi Y, Sato Y, Kato M, Chiba K, Tanaka H, Hoshino N, Nagae G, Shiozawa Y, Okuno Y, Hosoi H, Tanaka Y (病理診断科), Okita H, Miyachi M, Souzaki R, Taguchi T, Koh K, Hanada R, Kato K, Nomura Y, Akiyama M, Oka A, Igarashi T, Miyano S, Aburatani H, Hayashi Y, Ogawa S, Takita J. Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma. Nat Commun. 2015;6:7557.
Nakamura N (整形外科), Inaba Y, Machida J (整形外科), Saito T. Rotational open-wedge osteotomy improves treatment outcomes for patients older than eight years with Legg-Calve-Perthes disease in the modified lateral pillar B/C border or C group. Int Orthop. 2015;39:1359-1364.
Kim WJ, Shiroyanagi Y, Yamazaki Y (泌尿器科). Can Bladder Wall Thickness Predict Videourodynamic Findings in Children with Spina Bifida? J Urol. 2015;194:180-183.
Asakura A, Mihara T (麻酔科), Goto T (神経内科). The Effect of Preoperative Oral Carbohydrate or Oral Rehydration Solution on Postoperative Quality of Recovery: A Randomized, Controlled Clinical Trial. PLoS One. 2015; 10:e0133309.
Iwata S, Ito M, Nakata T, Noguchi Y, Okuno T, Ohkawara B, Masuda A, Goto T (神経内科), Adachi M (内分泌代謝科), Osaka H (神経内科), Nonaka R, Arikawa-Hirasawa E, Ohno K. A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space. Neuromuscul Disord. 2015;25:667-671.
Nakayama R, Mihara T, Miyamoto Y, Ka K (麻酔科). The association of hypotension with the insertion of an abdominal retractor during lower abdominal surgery in pediatric patients: a retrospective observational study. Paediatr Anaesth. 2015;25:824-828.
Ohba C, Kato M, Takahashi N, Osaka H (神経内科), Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y (臨床研究室), Miyake N, Tanaka F, Saitsu H, Matsumoto N. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56:e121-128.
Takeyama E, Tanaka M (病理診断科), Fujishiro J, Kitagawa N (外科), Iwanaka T, Tanaka Y (病理診断科). A case of alpha-fetoprotein-producing gastric cancer in a child presenting with rupture of multiple liver metastases. Pediatr Surg Int. 2015;31:885-888.
Fukami M, Naiki Y, Muroya K (内分泌代謝科), Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M (内分泌代謝科), Ogata T, Kanzaki S; Japanese SHOX study group. Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature. J Hum Genet. 2015;60:553-556.
Kuroda Y, Ohashi I, Enomoto Y, Naruto T (遺伝科), Baba N (皮膚科), Tanaka Y (病理診断科), Aida N (放射線科), Okamoto N, Niihori T, Aoki Y, Kurosawa K (遺伝科). A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. Am J Med Genet A. 2015;167A:2223-2225.
Odajima H, Ebisawa M, Nagakura T, Fujisawa T, Akasawa A, Ito K, Doi S, Yamaguchi K, Katsunuma T, Kurihara K (アレルギー科), Kondo N, Sugai K, Nambu M, Hoshioka A, Yoshihara S, Sato N, Seko N, Nishima S. Omalizumab in Japanese children with severe allergic asthma uncontrolled with standard therapy. Allergol Int. 2015;64:364-370.
Fukumoto K, Miyano G, Yamoto M, Nouso H, Miyake H, Kaneshiro M, Nakajima H, Koyama M, Mochizuki K, Shinkai M (外科), Urushihara N. Endoscopic repair of laryngotracheoesophageal clefts. J Pediatr Surg. 2015;50:1801-1804.
Yokose M, Mihara T (麻酔科), Goto T (神経内科). Hypotension during spinal anaesthesia for caesarean section - a reply. Anaesthesia. 2015;70:1210.
Terui K, Nagata K, Ito M, Yamoto M, Shiraishi M, Taguchi T, Hayakawa M, Okuyama H, Yoshida H, Masumoto K, Kanamori Y, Goishi K, Urushihara N, Kawataki M (新生児科), Inamura N, Kimura O, Okazaki T, Toyoshima K (新生児科), Usui N. Surgical approaches for neonatal congenital diaphragmatic hernia: a systematic review and meta-analysis. Pediatr Surg Int. 2015;31:891-897.
Mochizuki K, Shinkai M, Take H, Kitagawa N, Usui H, Miyagi H, Nakamura K (外科), Obatake M. Impact of an external lengthening procedure on the outcome of long-gap esophageal atresia at our hospitals. Pediatr Surg Int. 2015;31:937-942.
Sato T, Muroya K, Asakura Y (内分泌代謝科), Yachie A, Nishimura G, Aida N (放射線科), Machida J (整形外科), Tanaka Y (病理診断科), Hasegawa T, Adachi M (内分泌代謝科). Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report. Am J Med Genet A. 2015;167A:2430-2434.
Kato M, Ishida H, Koh K, Inagaki J, Kato K, Goto H (血液再生医療科), Kaneko T, Cho Y, Hashii Y, Kurosawa H, Takita J, Hamamoto K, Inoue M, Sawada A, Suzuki R, Kato K. Comparison of chemotherapeutic agents as a myeloablative conditioning with total body irradiation for pediatric acute lymphoblastic leukemia: A study from the pediatric ALL working group of the Japan Society for Hematopoietic Cell Transplantation. Pediatr Blood Cancer. 2015;62:1844-1850.
Satake T, Sugawara J, Yasumura K, Mikami T, Kobayashi S (形成外科), Maegawa J. "Mini-Flow-Through" Deep Inferior Epigastric Perforator Flap for Breast Reconstruction with Preservation of Both Internal Mammary and Deep Inferior Epigastric Vessels. Arch Plast Surg. 2015;42:783-787.
Tada H, Takanashi J, Okuno H, Kubota M, Yamagata T, Kawano G, Shiihara T, Hamano S, Hirose S, Hayashi T (救急診療科), Osaka H (神経内科), Mizuguchi M. Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). J Neurol Sci. 2015;358:62-65.
Niwa T, Aida N, Fujii Y, Nozawa K (放射線科), Imai Y. Age-related changes of susceptibility-weighted imaging in subependymal nodules of neonates and children with tuberous sclerosis complex. Brain Dev. 2015;37:967-973.
Yamamoto T, Takanashi J, Kurosawa K (遺伝科), Deguchi K, Osaka H (神経内科), Inoue K. Comment on "delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720. Brain Dev. 2015;37:988-989.
Kagami M, Kurosawa K (遺伝科), Miyazaki O, Ishino F, Matsuoka K, Ogata T. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet. 2015;23:1488-1498.
Goto H (血液再生医療科). Childhood relapsed acute lymphoblastic leukemia: Biology and recent treatment progress. Pediatr Int. 2015;57:1059-1066.
Ichikawa Y, Sato A, Sato K, Nakamura K, Kitagawa N (外科), Tanoue K (総合診療科), Shiro H. Chylothorax associated with child abuse. Pediatr Int. 2015;57:1202-1204.
Ohba C, Haginoya K, Osaka H (神経内科), Kubota K, Ishiyama A, Hiraide T, Komaki H, Sasaki M, Miyatake S, Nakashima M, Tsurusaki Y (臨床研究室), Miyake N, Tanaka F, Saitsu H, Matsumoto N. De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. J Hum Genet. 2015;60:739-742.
Ishida H, Kato M, Kudo K, Taga T, Tomizawa D, Miyamura T, Goto H (血液再生医療科), Inagaki J, Koh K, Terui K, Ogawa A, Kawano Y, Inoue M, Sawada A, Kato K, Atsuta Y, Yamashita T, Adachi S. Comparison of Outcomes for Pediatric Patients With Acute Myeloid Leukemia in Remission and Undergoing Allogeneic Hematopoietic Cell Transplantation With Myeloablative Conditioning Regimens Based on Either Intravenous Busulfan or Total Body Irradiation: A Report From the JapaneseSociety for Hematopoietic Cell Transplantation. Biol Blood Marrow Transplant. 2015;21:2141-2147.
Sato T, Muroya K, Hanakawa J , Iwano R, Asakura Y (内分泌代謝科), Tanaka Y (病理診断科), Murayama K, Ohtake A, Hasegawa T, Adachi M (内分泌代謝科). Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. Eur J Pediatr. 2015;174:1593-1602.

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