Faculty Profiles - TSUKAHARA Hirokazu

Papers - TSUKAHARA Hirokazu

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Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures.

Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Yumiko Hayashi, Katsuhiro Kobayashi, Hirokazu Tsukahara

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 27 ( 3 ) 159 - 164 2018

Language：English Publishing type：Research paper (scientific journal)

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes TBX1 and 30 other genes. Analysis of Tbx1 transgenic mice showed that TBX1 was associated with the 22q11.2 deletion syndrome. In humans, TBX1 mutations have been reported in 22q11.2 deletion-negative patients with velocardiofacial syndrome or DiGeorge syndrome. Genotype-phenotype correlations are not fully understood in these patients. We report the case of an infant with a novel heterozygous TBX1 mutation who experienced hypocalcemic seizures. This patient had no palate abnormalities, cardiac anomalies, or the typical facial appearance observed in 22q11.2 deletion syndrome. The presence of thymic hypoplasia prompted us to perform G-banding, fluorescent in situ hybridization, and subsequent TBX1 analysis. We emphasize the importance of diagnosing thymic hypoplasia in hypocalcemic infants without 22q11.2 deletion for detecting TBX1 mutations.

DOI： 10.1297/cpe.27.159

Sorafenib treatment for papillary thyroid carcinoma with diffuse lung metastases in a child with autism spectrum disorder: a case report. International journal

Yousuke Higuchi, Takayuki Motoki, Hisashi Ishida, Kiichiro Kanamitsu, Kana Washio, Takanori Oyama, Takuo Noda, Yasuko Tsurumaru, Ayumi Okada, Hirokazu Tsukahara, Akira Shimada

BMC cancer 17 ( 1 ) 775 - 775 2017.11

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Pediatric papillary thyroid carcinoma frequently presents with lymph node involvement and distant metastases. Sorafenib, an oral multikinase inhibitor, has been used to treat radioactive iodine (RAI) therapy-refractory thyroid carcinoma in adults; however, pediatric experience is limited. Medical procedures and hospitalization for children with autism spectrum disorder may be challenging. CASE PRESENTATION: An 11-year-old boy with autism spectrum disorder and moderate intellectual impairment presented with dyspnea on exertion with thyroid carcinoma and diffuses lung metastases. Total thyroidectomy and adjuvant RAI therapy is the standard treatment; however, the latter therapy was impractical because of his respiratory status and challenging behaviors. He was therefore started on sorafenib 200 mg/day (150 mg/m2/day) and this dosage was increased to 400 mg/day (300 mg/m2/day). The adverse effects were mild and tolerable. After administration of medication, his dyspnea improved and surgery was performed. We attempted to administer RAI therapy after surgery; however, we abandoned it because he had difficulty taking care of himself according to isolation room rules. Thyrotropin suppression therapy was therefore started and sorafenib treatment (400 mg/day) resumed. Follow-up imaging showed regression of pulmonary metastases. The metastases have remained stable for over 24 months on continuous sorafenib treatment without serious adverse events. CONCLUSION: We inevitably used sorafenib as an alternative to standard therapy because of the patient's specific circumstances. Individualized strategies for pediatric cancer patients with autism spectrum disorder are needed.

DOI： 10.1186/s12885-017-3782-7

Childhood cancer survivors: Anxieties felt after treatment and the need for continued support. International journal

Naoko Iwai, Akira Shimada, Atsushi Iwai, Sonoe Yamaguchi, Hirokazu Tsukahara, Megumi Oda

Pediatrics international : official journal of the Japan Pediatric Society 59 ( 11 ) 1140 - 1150 2017.11

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Childhood cancer survivors (CCS) and their family members continue to live in fear even after treatment is concluded due to concerns about late effects and recurrences. The consequent long-term psychological burden requires long-term follow up suited to the anxieties and needs of CCS, hence the need for the present survey. METHODS: We conducted a questionnaire survey at medical facilities in the Chugoku and Shikoku regions of Japan with CCS who had survived for at least 5 years following treatment, and their family members. RESULTS: A total of 30 CCS (53%) and 27 CCS family members (47%) answered the questionnaires. The median age of the CCS and their family members (CCS parents) was 23 years and 51.5 years, respectively. The most common diagnosis was acute lymphoblastic leukemia (47%) and the median length of follow up after the conclusion of treatment was 11 years. The percentage of participants who responded that they knew about late effects was significantly lower among CCS than among CCS parents. Almost no significant difference was observed between CCS and CCS parents regarding anxieties at specific life stages. The main consultants for CCS and CCS parents were their family, but they sought opportunities for casual consultation for current worries outside the family. CONCLUSIONS: It is necessary for medical facilities not only to provide medical support, but also to establish a place where they can provide centralized consultation for the anxieties of CCS and their parents.

DOI： 10.1111/ped.13390

Gene expression analysis of hypersensitivity to mosquito bite, chronic active EBV infection and NK/T-lymphoma/leukemia. International journal

Kana Washio, Takashi Oka, Lamia Abdalkader, Michiko Muraoka, Akira Shimada, Megumi Oda, Hiaki Sato, Katsuyoshi Takata, Yoshitoyo Kagami, Norio Shimizu, Seiichi Kato, Hiroshi Kimura, Kazunori Nishizaki, Tadashi Yoshino, Hirokazu Tsukahara

Leukemia & lymphoma 58 ( 11 ) 2683 - 2694 2017.11

Language：English Publishing type：Research paper (scientific journal)

The human herpes virus, Epstein-Barr virus (EBV), is a known oncogenic virus and plays important roles in life-threatening T/NK-cell lymphoproliferative disorders (T/NK-cell LPD) such as hypersensitivity to mosquito bite (HMB), chronic active EBV infection (CAEBV), and NK/T-cell lymphoma/leukemia. During the clinical courses of HMB and CAEBV, patients frequently develop malignant lymphomas and the diseases passively progress sequentially. In the present study, gene expression of CD16(-)CD56(+)-, EBV(+) HMB, CAEBV, NK-lymphoma, and NK-leukemia cell lines, which were established from patients, was analyzed using oligonucleotide microarrays and compared to that of CD56brightCD16dim/- NK cells from healthy donors. Principal components analysis showed that CAEBV and NK-lymphoma cells were relatively closely located, indicating that they had similar expression profiles. Unsupervised hierarchal clustering analyses of microarray data and gene ontology analysis revealed specific gene clusters and identified several candidate genes responsible for disease that can be used to discriminate each category of NK-LPD and NK-cell lymphoma/leukemia.

DOI： 10.1080/10428194.2017.1304762

ドメスティック・バイオレンス(DV)を目撃した2例の検討発達に課題のある児の心理療法について

椙原彰子, 岡田あゆみ, 堀内真希子, 鶴丸靖子, 赤木朋子, 藤井智香子, 重安良恵, 塚原宏一

子どもの心とからだ 26 ( 3 ) 255 - 260 2017.11

Language：Japanese Publisher：(一社)日本小児心身医学会

ドメスティックバイオレンス(以下DV)の目撃は虐待の一種で、子どもの心身に大きな影響をもたらす。今回われわれは、DV目撃後に不安症状を呈し、発達に課題のある2症例を報告する。いずれも、成育歴や心理検査で発達の偏りが示唆され、言語表現力、イメージ力の弱さが症状の遷延やその後の適応に影響していた。症例Aは、箱庭を使った感覚遊びを通して安心感を得て、日常生活のことを言語化した。症例Bは、箱庭の中で危機的な状況が徐々に整理されて安心感を獲得し、現実世界に向かった。言語的やりとりが活性化し、その中で父への気持ちも言語化できた。2症例ともに箱庭の箱という空間があり、安心して自由に表現できたことが、DV目撃後の不安症状の回復に効果的であった。また、生来の特徴として想像力の弱さがあり、抽象化しにくい児にとって箱庭療法が有効に働いた。箱庭療法から見立てた児の状態を母面接に活かし、治療効果を高めることができた。(著者抄録)

狭小な心房間交通を有する左心低形成症候群に対するBalloon Atrial Septostomyの検討

福嶋遥佑, 馬場健児, 近藤麻衣子, 栗田佳彦, 栄徳隆裕, 重光祐輔, 平井健太, 塚原宏一, 岩崎達雄, 佐野俊二, 笠原真悟, 小谷恭弘, 大月審一

日本小児循環器学会雑誌 33 ( 6 ) 423 - 430 2017.11

Language：Japanese Publisher：(NPO)日本小児循環器学会

背景:左心低形成症候群(HLHS)では左房容積が小さく、心房中隔の形態や心房中隔欠損(ASD)の大きさによってRashkind Balloon Atrial Septostomy(BAS)を行うことが困難な場合もある。目的:当院におけるHLHSに対するBASの有効性について検討した。対象と方法:2006年1月から2015年12月までの10年間にHLHSに対してカテーテル治療・手術を施行した患者におけるBASの有効性について検討した。またcatheter BASを施行した群についてASDの形態別に分けて有効性について両群比較検討した。結果:全HLHS70例中のGlenn手術到達は57例(81%)であり、BAS未施行群では86%(44/51)、catheter BAS群では91%(10/11)、open BAS群では25%(2/8)と統計学的有意差を認めたが(p=0.0002)、BAS未施行群とcatheter BAS群では同等の結果であった。(p=1.0)Glenn手術後にカテーテル検査を施行した56例について検討すると、BAS未施行群、catheter BAS施行群、open BAS施行群の平均肺動脈圧、肺血管抵抗、PAIいずれも3群間に差は認めなかった。次にCatheter BAS施行群をASDの位置・大きさ・atrial septumの厚さからstandard ASD(n=5)、complex ASD(n=5)に分類し、ASDの形態別にBAS施行方法を検討すると、standard ASD群では全例Rashkind BAS単独施行で効果を得たが、complex ASD群ではRashkind BAS単独施行症例は1例のみで、Static BASを先行させRashkind BASに到達した症例が4例であった(p=0.048)。BAS後のASD size、ASD flow、SpO2は2群間で統計学的有意差を認めなかった。結論:catheter BASは有効で、Glenn後のカテーテルデータではBAS未施行群と有意差は認めなかった。またcomplex ASD群の場合には、Static BASを先行し、Rashkind BASを追加することで、standard ASD群と同等の効果を得ることができた。(著者抄録)

Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2017&ichushi_jid=J02003&link_issn=&doc_id=20180418180002&doc_link_id=%2Fee7shoni%2F2017%2F003306%2F003%2F0423-0430%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fee7shoni%2F2017%2F003306%2F003%2F0423-0430%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. International journal

Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

Journal of medical case reports 11 ( 1 ) 237 - 237 2017.8

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. CASE PRESENTATION: A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, -2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (-1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp). CONCLUSIONS: In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.

DOI： 10.1186/s13256-017-1396-y

Metabolic pathway catalyzed by Vanin-1 pantetheinase plays a suppressive role in influenza virus replication in human alveolar epithelial A549 cells. International journal

Nobuko Yamashita, Masato Yashiro, Hirohito Ogawa, Hikaru Namba, Nobuyuki Nosaka, Yousuke Fujii, Tsuneo Morishima, Hirokazu Tsukahara, Masao Yamada

Biochemical and biophysical research communications 489 ( 4 ) 466 - 471 2017.8

Language：English Publishing type：Research paper (scientific journal)

Our previous analysis of gene expression profiles in the peripheral blood from patients with influenza A (H1N1) pdm09 pneumonia revealed elevated transcription levels of the vanin-1 (vascular non-inflammatory molecule 1, VNN1) gene, which encodes an epithelial ectoenzyme with pantetheinase activity involved in recycling coenzyme A. Here, to elucidate the role of VNN1 in influenza A virus (IAV) H1N1 infection, we investigated the change of VNN1 expression in the context of IAV infection and the effects of its related substances, i.e., its direct substrate pantetheine and its two metabolites pantothenic acid and cysteamine on the replication of IAV in the human alveolar epithelial carcinoma cell line A549. The messenger RNA expression of VNN1 in A549 cells was significantly increased (by 4.9-fold) after IAV infection under an elevated concentration of pantetheine. Moreover, VNN1 mRNA levels were elevated by > 100-fold in response to pro-inflammatory cytokines, especially TNF-α and IL-1β. Pantetheine significantly reduced the IAV replication and IAV Matrix 1 (M1) mRNA levels when it was administered prior to and during infection. In addition, cysteamine treatment during IAV infection significantly reduced the viral replication and IAV M1 mRNA levels, whereas pantothenic acid did not. These findings suggest that the metabolic pathway catalyzed by VNN1 pantetheinase plays a suppressive role in IAV infection in the respiratory tract, especially in severe conditions under hypercytokinemia.

DOI： 10.1016/j.bbrc.2017.05.172

Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth Reviewed

Satoshi Hirayama, Hironori Nagasaka, Saori Nakagawa, Mayuko Takuwa, Mariko Nakacho, Tohru Yorifuji, Hiroki Kondou, Hirokazu Tsukahara, Ichiro Morioka, Akihito Ishida, Susumu Yamato, Takashi Miida

JOURNAL OF CLINICAL LIPIDOLOGY 11 ( 4 ) 1032 - 1042 2017.8

Language：English Publishing type：Research paper (scientific journal) Publisher：ELSEVIER SCIENCE INC

BACKGROUND: Growth hormone (GH) replacement therapy improves hypercholesterolemia in patients with GH deficiency, suggesting that GH modulates cholesterol metabolism.
OBJECTIVES: We examined GH effects on lipid profiles and cholesterol-related markers reflecting hepatic and cerebral cholesterol metabolism in small-for-gestational age (SGA) children without catchup growth.
METHODS: This study examined SGA children without catch-up growth (n = 22) and healthy children (controls, n = 11). Based on parents' choice, 11 SGA children received GH at 0.23 to 0.25mg/kg/d for 6 months, and at 0.34 to 0.36 mg/kg/d for the subsequent 6 months (GH (+) group). The other SGA children received no GH (GH (-) group, n = 11). We ascertained baseline and posttreatment lipid profiles and cholesterol-related markers reflecting hepatic and cerebral cholesterol metabolism.
RESULTS: Baseline lipid profiles of SGA children and controls were similar. Serum 24S-hydroxycholesterol (marker for cerebral cholesterol metabolism) concentration was 19% lower in SGA children than in controls (P < .05). Compared with baseline, the GH (+) group low-density lipoprotein -cholesterol concentration had decreased by 6.6% during 6 months and 8.8% during 12 months (P <.01), whereas the high-density lipoprotein-cholesterol concentration had increased by 1.7% (P =.07) and 3.3% (P < .01). Serum 7a-hydroxycholesterol (marker for hepatic cholesterol elimination) concentration had increased by 34% at 6 months and 35% at 12 months (P < .01). In addition, 24S-hydroxycholesterol increased by 25% and 26% (P < .001). No marker for cholesterol synthesis or absorption changed. The GH (-) group lipid profiles and oxysterols remained unchanged during the observation period.
CONCLUSION: GH activates hepatic and cerebral cholesterol metabolism in SGA children without catch-up growth. (C) 2017 National Lipid Association. All rights reserved.

DOI： 10.1016/j.jacl.2017.05.010

Other Link： http://orcid.org/0000-0002-4294-8030

EBウイルス感染CD8陽性T細胞増殖で発症し、再燃時に感染B細胞が増殖した血球貪食性リンパ組織球症の1例 Reviewed

北野ひとみ, 藤井洋輔, 野坂宜之, 八代将登, 嶋田明, 塚原宏一

小児感染免疫 29 ( 2 ) 165 - 170 2017.7

Language：Japanese Publisher：日本小児感染症学会

EBV関連血球貪食性リンパ組織球症(EBV-HLH)の児で初発時にCD8陽性T細胞に感染していたが、再燃時にB細胞内に増殖を認めた症例を経験したので報告する。症例は2歳の女児であり、発熱と汎血球減少からEBV-HLHと診断された。EBV-DNA量と感染細胞のプロファイリングを行い、診断時にはEBV-DNA量の増加とCD8陽性T細胞への感染を確認した。本児にはHLH-2004プロトコールに準じて治療を開始した。全血EBV-DNA量は一時的に検出感度未満まで低下したが、治療終了直後に再度増加した。感染細胞のプロファイリングによりB細胞内へのEBV感染が疑われた。EBV-HLHの再発例では造血幹細胞移植を行うこともあるが、感染細胞の同定によりB細胞への感染が考えられたためリツキシマブを使用し、EBV-DNA量は速やかに検出感度未満となった。EBV-DNA定量と感染細胞の同定はEBV-HLHの治療方針の決定に有用であると考えられた。(著者抄録)

New age-based weight estimation formulae for Japanese children. International journal

Nobuyuki Nosaka, Takashi Yorifuji, Emily Knaup, Kohei Tsukahara, Takashi Muguruma, Ayumi Okada, Hirokazu Tsukahara, Hiroyuki Doi

Pediatrics international : official journal of the Japan Pediatric Society 59 ( 6 ) 727 - 732 2017.6

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Although dosing and sizing of resuscitation drugs and equipment are mostly weight based, time is usually insufficient to weigh critically ill children. Many age-based weight estimation formulae for emergency use have been developed worldwide, but there is no specific formula for Japanese children. The aim of this study was therefore to develop and validate age-based formulae for estimating the bodyweight of children living in Japan. METHODS: A total of 370 980 measurements of bodyweight were obtained from 39 547 participants aged 12-155 months. They participated in a national survey, called the Longitudinal Survey of Babies in the 21st Century, which started in 2001. We created the new original weight estimation formulae for children living in Japan, called the Japanese Pediatric Assessment of Normal weight (JAPAN) formulae, using 75% of measurements that were randomly selected from the total measurements. To check the validity of the formulae, we applied the JAPAN formulae, the Park et al. formula for Korean children, and the commonly used Nelson formula for the remaining 25% of measurements. The mean absolute error and the root mean square error (RMSE) were calculated for each scale. RESULTS: The JAPAN formulae performed better than the two other formulae among Japanese children, with a mean absolute error and RMSE of 0.83 and 1.08 (kg), respectively. The performance of the Park et al. formulae for Korean children was poor for children living in Japan. CONCLUSIONS: The newly developed JAPAN formulae for age-based weight estimation are appropriate for children living in Japan.

DOI： 10.1111/ped.13259

羊水過多をきたし出生直後に気管切開を必要としたNager症候群の1例

江口武志, 谷和祐, 岡村朋香, 鷲尾洋介, 吉本順子, 増山寿, 平松祐司, 塚原宏一

日本周産期・新生児医学会雑誌 53 ( 2 ) 754 - 754 2017.6

長期に経過を観察した起立性調節障害患者23例の検討

藤井智香子, 岡田あゆみ, 鶴丸靖子, 赤木朋子, 重安良恵, 椙原彰子, 堀内真希子, 塚原宏一

子どもの心とからだ 26 ( 1 ) 34 - 38 2017.5

Language：Japanese Publisher：(一社)日本小児心身医学会

起立性調節障害(orthostatic dysregulation:以下OD)は、成人期にも何らかの症状が継続することが知られているが、高校進学後の社会適応については不明な点も多い。われわれは、18歳以上まで経過を観察した23例について治療過程を振り返り、進路選択とその課題について検討を行った。社会的転帰不良群の特徴として、初診時年齢が低い、2次障害として精神疾患の発症を認めるなどがあった。一方、社会適応が良好な症例でも起立試験の結果は改善せず、自覚症状が消失していない症例も多かった。社会的予後の改善には心理社会的なサポートを行いながら2次障害の発症に注意すること、症状と付き合いながら生活する能力を向上させることが重要と考えた。難治例、成人例に対して成人科への移行も含めた効果的な治療・対応法についてのさらなる検討が必要である。(著者抄録)

Intracranial Pressure Monitoring for Pediatric Acute Encephalopathy.

Nobuyuki Nosaka, Kohei Tsukahara, Emily Knaup, Toshihiko Yabuuchi, Tomonobu Kikkawa, Yosuke Fujii, Masato Yashiro, Takao Yasuhara, Ayumi Okada, Toyomu Ugawa, Atsunori Nakao, Hirokazu Tsukahara, Isao Date

Acta medica Okayama 71 ( 2 ) 179 - 180 2017.4

Language：English Publishing type：Research paper (scientific journal)

Newly published clinical practice guidelines recommend intracranial pressure (ICP) monitoring in critical care for the management of pediatric acute encephalopathy (pAE), but the utility of ICP monitoring for pAE has been poorly studied. We recently performed direct ICP monitoring for two patients. We observed that although the direct ICP monitoring had clinical benefits with less body weight gain and no vasopressor use in both cases, this monitoring technique is still invasive. Future studies should determine the utility of non-invasive ICP monitoring systems in pAE to further improve the quality of intensive-care management.

DOI： 10.18926/AMO/54987

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment. Reviewed International journal

Hironori Nagasaka, Haruki Komatsu, Ayano Inui, Mariko Nakacho, Ichiro Morioka, Hirokazu Tsukahara, Shunsaku Kaji, Satoshi Hirayama, Takashi Miida, Hiroki Kondou, Kenji Ihara, Mariko Yagi, Zenro Kizaki, Kazuhiko Bessho, Takahiro Kodama, Kazumoto Iijima, Takeyori Saheki, Tohru Yorifuji, Akira Honda

Molecular genetics and metabolism 120 ( 3 ) 207 - 212 2017.3

Language：English Publishing type：Research paper (scientific journal) Publisher：ACADEMIC PRESS INC ELSEVIER SCIENCE

Citrin deficiency causes adult-onset type II citrullinemia (CTLN-2), which later manifests as severe liver steatosis and life-threatening encephalopathy. Long-standing energy deficit of the liver and brain may predispose ones to CTLN-2. Here, we compared the energy-driving tricarboxylic acid (TCA) cycle and fatty acid beta-oxidation cycle between 22 citrin-deficient children (age, 3-13 years) with normal liver functions and 37 healthy controls (age, 5-13 years). TCA cycle analysis showed that basal plasma citrate and alpha-ketoglutarate levels were significantly higher in the affected than the control group (p < 0.01). Conversely, basal plasma fumarate and malate levels were significantly lower than those for the control (p < 0.001). The plasma level of 3-OH-butyrate derived from fatty acid (3-oxidation was significantly higher in the affected group (p < 0.01). Ten patients underwent sodium pyruvate therapy. However, this therapy did not correct or attenuate such deviations in both cycles. Sodium pyruvate therapy significantly increased fasting insulin secretion (p < 0.01); the fasting sugar level remained unchanged. Our results suggest that citrin-deficient children show considerable deviations of TCA cycle metabolite profiles that are resistant to sodium pyruvate treatment. Thus, long-standing and considerable TCA cycle dysfunction might be a pivotal metabolic background of CTLN-2 development. (C) 2016 Elsevier Inc. All rights reserved.

DOI： 10.1016/j.ymgme.2016.12.011

Recurrent apnea in an infant with pertussis due to household transmission. International journal

Motoharu Ochi, Nobuyuki Nosaka, Emily Knaup, Kohei Tsukahara, Tomonobu Kikkawa, Yousuke Fujii, Masato Yashiro, Keiji Sato, Toyomu Ugawa, Ayumi Okada, Hirokazu Tsukahara

Clinical case reports 5 ( 3 ) 241 - 245 2017.3

Pediatric intestinal Behçet disease complicated by myeloid malignancies.

Kiichiro Kanamitsu, Akira Shimada, Ritsuo Nishiuchi, Tomonari Shigemura, Yozo Nakazawa, Kenichi Koike, Yuichi Kodama, Yuichi Shinkoda, Yoshifumi Kawano, Kozo Yasui, Koji Sasaki, Ryosuke Kajiwara, Hirokazu Tsukahara, Atsushi Manabe

International journal of hematology 105 ( 3 ) 377 - 382 2017.3

Language：English Publishing type：Research paper (scientific journal)

Behçet disease (BD) is rarely seen in children. Its clinical manifestations are believed to differ between pediatric and adult patients. The characteristics of BD complicated by myelodysplastic syndrome (MDS) are well established for adult patients; however, because only a few cases of pediatric-onset BD complicated by MDS have been reported, its clinical characteristics remain unknown. We here retrospectively review pediatric-onset BD complicated by myeloid malignancies in Japan, having identified five such patients. All patients were female and had gastrointestinal involvements, but lacked both major features of BD, i.e., uveitis and association with HLA-B51. All patients had advanced MDS or acute myeloid leukemia and received chemotherapy followed by hematopoietic stem cell transplantation. These five cases suggest that intestinal BD and myeloid malignancies have one or more pathophysiological mechanisms in common.

DOI： 10.1007/s12185-016-2127-7

Effects of Therapeutic Hypothermia for Neuroprotection from the Viewpoint of Redox Regulation.

Nobuyuki Nosaka, Ayumi Okada, Hirokazu Tsukahara

Acta medica Okayama 71 ( 1 ) 1 - 9 2017.2

Language：English Publishing type：Research paper (scientific journal)

Redox regulation has recently been recognized as an important factor in acute illnesses as well as in chronic diseases. It has also become a target for neuroprotection in acute intensive care. Despite its well-known therapeutic effects, therapeutic hypothermia has recently been re-evaluated for its potential use in emergency and critical care medicine. Hypothermia is an undesirable physiological condition that can increase oxidative stress and decrease anti-oxidative potency. However, many studies have shown that under ischemia/reperfusion conditions, therapeutic hypothermia actually suppresses enhanced oxidative stress and maintains or increases anti-oxidative potency. This review provides an overview and outlook for the future of therapeutic hypothermia for neuroprotection from the perspective of redox regulation in patients with post-cardiac arrest syndrome and traumatic brain injury.

DOI： 10.18926/AMO/54819

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features Reviewed

Kosei Hasegawa, Chikahiko Numakura, Hiroyuki Tanaka, Mahoko Furujo, Toshihide Kubo, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 30 ( 1 ) 117 - 121 2017.1

Language：English Publishing type：Research paper (scientific journal) Publisher：WALTER DE GRUYTER GMBH

Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) beta-binding-protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome. In the present study, we report and compare the highly varied clinical and radiological features of three Japanese AD/GD children. Our patients, harboring FBN1 mutations p.Tyr1699Cys, p.Ser1750Arg, and p.Gly1762Ser, shared common clinical symptoms such as severe short stature, acromelia and hepatomegaly. Short tubular bones of hands and deformities of femur heads are common radiological features of our patients.

DOI： 10.1515/jpem-2016-0258

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. International journal

Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara

JIMD reports 37 99 - 106 2017

Language：English Publishing type：Research paper (scientific journal)

Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed. This report describes a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene, although other mutations including the p.Lys404Glu mutation in CPOX were not found. By unknown etiology, our patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Based on genetic mutation of the CPOX gene and information from a previous similar case report, we consider that neonatal-onset HCP is a variant of HCP.

DOI： 10.1007/8904_2017_20

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