Updated on 2024/06/04

写真a

 
Okazaki Tetsuya
 
Organization
Faculty of Medicine, Dentistry and Pharmaceutical Sciences Special-Appointment Lecturer
Position
Special-Appointment Lecturer
External link

Degree

  • 博士(医学)

Research Interests

  • 遺伝カウンセリング

  • 臨床遺伝

  • 小児神経学

  • 次世代シークエンサー解析

  • 小児神経疾患の治療研究

  • 人類遺伝学

  • 遺伝性疾患の患者・家族支援

  • 脆弱X症候群

Research Areas

  • Life Science / Medical biochemistry

  • Life Science / Embryonic medicine and pediatrics

Education

  • Tottori University   大学院医学系研究科医学専攻博士課程  

    2015 - 2019

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  • Toho University   医学部  

    1999 - 2005

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Professional Memberships

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Committee Memberships

  • 日本遺伝子診療学会   評議員、ELSI委員会 委員長  

    2023   

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  • Human Genome Variation誌   Associate Editor  

    2023   

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  • 日本小児神経学会   社会保険・薬事委員会 社会保険小委員会委員  

    2023   

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  • 日本遺伝カウンセリング学会   地域活性化委員会中国・四国地区委員  

    2022   

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  • 日本人類遺伝学会/日本遺伝カウンセリング学会   臨床遺伝専門医制度委員会委員  

    2022   

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  • 日本人類遺伝学会   臨床遺伝専門医制度委員会_ホームページWGリーダー  

    2022   

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  • 日本人類遺伝学会   保険委員会 委員  

    2021   

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  • 日本人類遺伝学会   遺伝医学セミナー委員会 委員  

    2021   

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  • 日本小児神経学会   評議員  

    2019   

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  • 日本人類遺伝学会   評議員  

    2019   

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  • 日本小児神経学会   小慢・指定難病に関する委員会 委員  

    2015   

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Papers

  • An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

    Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

    BMC Pediatrics   24 ( 1 )   2024.5

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    Publishing type:Research paper (scientific journal)   Publisher:Springer Science and Business Media LLC  

    Abstract

    Background

    ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported.

    Case presentation

    A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected.

    Conclusions

    We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.

    DOI: 10.1186/s12887-024-04774-3

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    Other Link: https://link.springer.com/article/10.1186/s12887-024-04774-3/fulltext.html

  • Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.

    Tatsuya Kawaguchi, Tohru Okanishi, Tetsuya Okazaki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Yuichi Yoshida, Noriko Miyake, Naomichi Matsumoto, Yoshihiro Maegaki

    Yonago acta medica   66 ( 4 )   463 - 466   2023.11

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    Noonan syndrome is an autosomal dominant disease characterized by multi-organ disorders caused by variants of genes involved in the RAS/MAPK signaling pathway. The nine causative genes including PTPN11 and CBL have been identified. Mastocytosis is a disease characterized by mast cell proliferation in skin, bone marrow, and other organs. To date, no previous cases of Noonan syndrome with mastocytosis caused by a pathogenic CBL variant have been reported. A boy was diagnosed with Noonan syndrome at 8 months of age with facial features and minor anomaly of his body. He presented with brown nodules of 5-10 mm on his body since the age of 2 months. The patient was diagnosed with mastocytosis by a biopsy specimen from brown nodules, which showed infiltration of mast cells. Whole-exome sequencing of the parent-patient trio revealed a de novo pathogenic CBL variant. The occurrence of mastocytosis may be a cue for the analysis of the CBL gene in Noonan syndrome. The CBL gene is involved in mastocytosis and various cancers. In the case of the pathogenic variant, long-term follow-up for the risk of cancers related to the CBL variant is necessary.

    DOI: 10.33160/yam.2023.11.005

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  • Noonan症候群様の徴候を呈した6p25欠失症候群の1例

    大城 一航, 岡西 徹, 太田 亮, 梅田 真洋, 青木 智彩子, 太田 健人, 荒井 勇人, 金井 創太郎, 岡崎 哲也, 前垣 義弘

    脳と発達   55 ( Suppl. )   S303 - S303   2023.5

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    Language:Japanese   Publisher:(一社)日本小児神経学会  

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  • Phase Lag Analysis Scalp Electroencephalography May Predict Seizure Frequencies in Patients with Childhood Epilepsy with Centrotemporal Spikes.

    Masayoshi Oguri, Tetsuya Okazaki, Tohru Okanishi, Masashi Nishiyama, Sotaro Kanai, Hiroyuki Yamada, Kaoru Ogo, Takashi Himoto, Yoshihiro Maegaki, Ayataka Fujimoto

    Yonago acta medica   66 ( 1 )   48 - 55   2023.2

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

    BACKGROUND: Childhood epilepsy with centrotemporal spikes (CECTS) is the most common epilepsy syndrome in school-aged children. However, predictors for seizure frequency are yet to be clarified using the phase lag index (PLI) analyses. We investigated PLI of scalp electroencephalography data at onset to identify potential predictive markers for seizure times. METHODS: We compared the PLIs of 13 patients with CECTS and 13 age- and sex-matched healthy controls. For the PLI analysis, we used resting-state electroencephalography data (excluding paroxysmal discharges), and analyzed the mean PLIs among all electrodes and between interest electrodes (C3, C4, P3, P4, T3, and T4) and other electrodes. Furthermore, we compared PLIs between CECTS and control data and analyzed the associations between PLIs and total seizure times in CECTS patients. RESULTS: No differences were detected in clinical profiles or visual electroencephalography examinations between patients with CECTS and control participants. In patients with CECTS, the mean PLIs among all electrodes and toward interest electrodes were higher at the theta and alpha bands and lower at the delta and gamma bands than those in control participants. Additionally, the mean PLIs toward interest electrodes in the beta frequency band were negatively associated with seizure times (P = 0.02). CONCLUSION: The resting-state delta, theta, alpha, and gamma band PLIs might reflect an aberrant brain network in patients with CECTS. The resting-state PLI among the selected electrodes of interest in the beta frequency band may be a predictive marker of seizure times in patients with CECTS.

    DOI: 10.33160/yam.2023.02.006

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  • First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing. International journal

    Yosuke Miyamoto, Tetsuya Okazaki, Keisuke Watanabe, Masami Togawa, Tadashi Adachi, Ayumi Kato, Ryoya Ochiai, Chisato Tamai, Jun Sone, Yoshihiro Maegaki

    Brain & development   45 ( 1 )   70 - 76   2022.9

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    INTRODUCTION: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized clinically by eosinophilic hyaline intranuclear inclusions in neuronal and other somatic cells. Skin biopsies are reportedly useful in diagnosing NIID, and the genetic cause of NIID was identified as a GGC repeat expansion in NOTCH2NLC in recent years. The number of adult patients diagnosed via genetic testing has increased; however, there have been no detailed reports of pediatric NIID cases with GGC expansions in NOTCH2NLC. This is the first detailed report of a pediatric patient showing various neurological symptoms from the age of 10 and was ultimately diagnosed with NIID via skin biopsy and triplet repeat primed polymerase chain reaction analyses. CASE REPORT: This was an 18-year-old female who developed cyclic vomiting, distal dominant muscle weakness, and sustained miosis at 10 years. Nerve conduction studies revealed axonal degeneration, and her neuropathy had slowly progressed despite several rounds of high-dose methylprednisolone and intravenous immunoglobulin therapy. At 13 years, she had an acute encephalopathy-like episode. At 15 years, brain MRI revealed slightly high-intensity lesions on diffusion-weighted and T2-weighted imaging in the subcortical white matter of her frontal lobes that expanded over time. At 16 years, esophagography, upper gastrointestinal endoscopy, and esophageal manometry revealed esophageal achalasia, and per-oral endoscopic myotomy was performed. At 18 years, we diagnosed her with NIID based on the findings of skin specimen analyses and a GGC repeat expansion in NOTCH2NLC. CONCLUSION: NIID should be considered as a differential diagnosis in pediatric patients with various neurological symptoms.

    DOI: 10.1016/j.braindev.2022.09.002

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  • A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing

    Yuto Arai, Tohru Okanishi, Sotaro Kanai, Tetsuya Okazaki, Eriko Koshimizu, Satoko Miyatake, Yukinori Maeoka, Ayataka Fujimoto, Naomichi Matsumoto, Yoshihiro Maegaki

    Brain and Development   2022.7

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    Publishing type:Research paper (scientific journal)   Publisher:Elsevier BV  

    DOI: 10.1016/j.braindev.2022.07.005

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  • Intractable startle epilepsy in Schuurs - Hoeijmakers syndrome. International journal

    Kento Ohta, Tohru Okanishi, Sotaro Kanai, Tetsuya Okazaki, Ayataka Fujimoto, Yoshihiro Maegaki

    Epileptic disorders : international epilepsy journal with videotape   24 ( 3 )   606 - 608   2022.6

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    DOI: 10.1684/epd.2022.1415

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  • Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion. International journal

    Tetsuya Okazaki, Tatsuya Kawaguchi, Yusuke Saiki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Ken Saida, Naomichi Matsumoto, Eiji Nanba, Yoshihiro Maegaki

    Human genome variation   9 ( 1 )   14 - 14   2022.5

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    There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global developmental delay. Exome sequencing detected a de novo 6q16.1 deletion (chr6: 99282717-100062596) (hg19). The following genes were included in this region: POU3F2, FBXL4, FAXC, COQ3, PNISR, USP45, TSTD3, CCNC, and PRDM13.

    DOI: 10.1038/s41439-022-00194-w

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  • [Intractable startle epilepsy in Schuurs-Hoeijmakers syndrome]. International journal

    Kento Ohta, Tohru Okanishi, Sotaro Kanai, Tetsuya Okazaki, Ayataka Fujimoto, Yoshihiro Maegaki

    Epileptic disorders : international epilepsy journal with videotape   2022.2

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

    DOI: 10.1684/epd.2022.1415

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  • 9年間の経過を経て若年成人期に遺伝学的検査を実施したリー・フラウメニ症候群の発症前診断の遺伝カウンセリング

    松浦 香里, 岡崎 哲也, 笠城 典子, 難波 栄二, 金子 周平, 中川 奈保子, 前垣 義弘

    日本遺伝カウンセリング学会誌   42 ( 3 )   325 - 331   2021.11

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    Language:Japanese   Publisher:(一社)日本遺伝カウンセリング学会  

    リー・フラウメニ症候群(Li-Fraumeni syndrome:LFS)は小児期から多様な腫瘍が発症し、高いがん発症リスクを持つ遺伝性腫瘍である。そのため小児期から若年成人期での発症前遺伝学的検査(PST)が求められることがある。しかし、その遺伝カウンセリング(GC)には一定の方針はない。我々は、9年間の経過を経て20代前半にPSTを実施したLFS家系未発症者を経験した。初診時(中学生)、クライエントは遺伝への理解と将来を見据えた意思決定が困難であったなどの理由から、半年〜1年に1回のサーベイランスとGCを実施しPSTの実施時期を検討していた。そして、本人の希望が強くなってきた時点で、質問紙を用いるなどして本人の心理状態や理解度を把握し、PSTを実施した。今後、成人期以前にリスクが高まる遺伝性腫瘍に対するPSTとそれに伴うGCの在り方について検討し整備することが必要だと考えられた。(著者抄録)

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  • FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. International journal

    Hiroyuki Awano, Yoshihiko Saito, Mamiko Shimizu, Kenji Sekiguchi, Shinichi Niijima, Masafumi Matsuo, Yoshihiro Maegaki, Isho Izumi, Chiya Kikuchi, Masato Ishibashi, Tetsuya Okazaki, Hirofumi Komaki, Kazumoto Iijima, Ichizo Nishino

    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia   92   215 - 221   2021.10

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    Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a group of autosomal recessive disorders associated with defective glycosylated alpha-dystroglycan (α-DG). The disease phenotype shows a broad spectrum, from the most severe congenital form involving brain and eye anomalies to milder limb-girdle form. FKRP-related alpha-dystroglycanopathies are common in European countries. However, a limited number of patients have been reported in Asian countries. Here, we presented the clinical, pathological, and genetic findings of nine patients with FKRP mutations identified at a single muscle repository center in Japan. Three and six patients were diagnosed with congenital muscular dystrophy type 1C and limb-girdle muscular dystrophy 2I, respectively. None of our Asian patients showed the most severe form of alpha-dystroglycanopathy. While all patients showed a reduction in glycosylated α-DG levels, to variable degrees, these levels did not correlate to clinical severity. Fifteen distinct pathogenic mutations were identified in our cohort, including five novel mutations. Unlike in the populations belonging to European countries, no common mutation was found in our cohort.

    DOI: 10.1016/j.jocn.2021.08.014

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  • Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory. International journal

    Yuna Sasaki, Takahiro Yamada, Shiro Tanaka, Akihiko Sekizawa, Tatsuko Hirose, Nobuhiro Suzumori, Takashi Kaji, Satoshi Kawaguchi, Yasuyuki Hasuo, Haruki Nishizawa, Keiichi Matsubara, Haruka Hamanoue, Akimune Fukushima, Masayuki Endo, Masayuki Yamaguchi, Yoshimasa Kamei, Hideaki Sawai, Kiyonori Miura, Masaki Ogawa, Shinya Tairaku, Hiroaki Nakamura, Ayako Sanui, Masahito Mizuuchi, Yoko Okamoto, Michihiro Kitagawa, Yukie Kawano, Hisashi Masuyama, Jun Murotsuki, Hisao Osada, Ryuhei Kurashina, Osamu Samura, Mayuko Ichikawa, Rumi Sasaki, Kazuhisa Maeda, Yasuyo Kasai, Tomomi Yamazaki, Reiko Neki, Naoki Hamajima, Yukiko Katagiri, Shunichiro Izumi, Setsuko Nakayama, Norio Miharu, Yuko Yokohama, Masaya Hirose, Kosuke Kawakami, Kiyotake Ichizuka, Masakatsu Sase, Kohei Sugimoto, Takeshi Nagamatsu, Tomomi Shiga, Lena Tashima, Takeshi Taketani, Mariko Matsumoto, Hironori Hamada, Takafumi Watanabe, Tetsuya Okazaki, Sadahiko Iwamoto, Daisuke Katsura, Nobuo Ikenoue, Toshiyuki Kakinuma, Hiromi Hamada, Makiko Egawa, Atsushi Kasamatsu, Akinori Ida, Naohiko Kuno, Naoaki Kuji, Mika Ito, Hiroko Morisaki, Shinji Tanigaki, Hiromi Hayakawa, Akinori Miki, Shoko Sasaki, Makoto Saito, Naoki Yamada, Toshiyuki Sasagawa, Toshitaka Tanaka, Fumiki Hirahara, Shinji Kosugi, Haruhiko Sago

    The journal of obstetrics and gynaecology research   47 ( 10 )   3437 - 3446   2021.8

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    AIM: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women. METHODS: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results. Sensitivity and specificity were calculated from the obtained data, and maternal age-specific PPV and NPV were estimated. RESULTS: Of the 45 504 cases, 44 263 cases fulfilling the study criteria were included. The mean maternal age and gestational weeks at the time of procedure were 38.5 years and 13.1 weeks, respectively. Sensitivities were 99.78% (95% confidence interval [95% CI]: 98.78-99.96), 99.12% (95% CI: 96.83-99.76), and 100% (95% CI: 88.30-100) for trisomies 21, 18, and 13, respectively. Specificities were more than 99.9% for trisomies 21, 18, and 13, respectively. Maternal age-specific PPVs were more than 93%, 77%, and 43% at the age of 35 years for trisomies 21, 18, and 13, respectively. CONCLUSION: The GeneTech NIPT data showed high sensitivity and specificity in the detection of fetal trisomies 21, 18, and 13 in high-risk pregnant women, and maternal age-specific PPVs were obtained. These results could provide more accurate and improved information regarding NIPT for genetic counseling in Japan.

    DOI: 10.1111/jog.14954

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  • Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion. International journal

    Hiroyuki Yamada, Tohru Okanishi, Tetsuya Okazaki, Masayoshi Oguri, Hiromi Fukuda, Yuri Uchiyama, Takeshi Mizuguchi, Naomichi Matsumoto, Yoshihiro Maegaki

    Brain & development   44 ( 1 )   68 - 72   2021.7

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    BACKGROUND: Sex-determining region Y-box 2 (SOX2) plays an important role in the early embryogenesis of the eye, forebrain, and hypothalamic-pituitary axis. Anophthalmia, microphthalmia, and hormonal abnormalities are commonly observed in patients with SOX2-related disorders. Although gait disturbance, particularly ataxic gait, has recently been observed in several cases, detailed data regarding the clinical course of gait disturbance in SOX2-related disorders are limited. CASE REPORT: A 9-year-old Japanese boy presented with focal dyskinesia only during walking and running after he started walking at the age of 3 years. He also exhibited intellectual disability and mild dysmorphic features, including microcephaly, micropenis, and short stature associated with hormonal abnormalities. Gait disturbance with involuntary extremity movements only during walking and running was indicative of choreoathetosis and dystonia. Genetic analysis detected a de novo heterozygous 1.0-kb deletion including SOX2 at 3q26.32, as described in a previous technical paper. CONCLUSIONS: SOX2-related disorders should be considered in patients with some anomalies having a differential diagnosis of dyskinesia. Focal dyskinesia only during walking and running may be a characteristic feature of SOX2-related disorders.

    DOI: 10.1016/j.braindev.2021.07.007

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  • Progressive cerebral atrophies in three children with COL4A1 mutations. International journal

    Yuko Nakamura, Tohru Okanishi, Hiroyuki Yamada, Tetsuya Okazaki, Chika Hosoda, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Yoshihiro Maegaki

    Brain & development   43 ( 10 )   1033 - 1038   2021.7

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    BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia, periventricular leukoencephalopathy, ventricular dysmorphisms, and multiple brain calcifications. However, there are no reports in the literature showing progressive radiological findings in consecutive follow-up scans. Herein, we report three cases of COL4A1 mutations with porencephaly from gestation to five years of age or longer, and describe their clinical and brain imaging findings. CASE REPORTS: We retrospectively reviewed the clinical symptoms and radiological findings, including brain magnetic resonance imaging (MRI) and computed tomography (CT), in three female patients with COL4A1 mutations. Their mutations were c.4843G>A (p.Glu1615Lys), c.1835G>A (p.Gly612Asp), and c.3556+1G>T respectively. All the three cases represented porencephaly in the fetal period; severe hemolytic anemia in the neonatal period; and drug-resistant epilepsy, global developmental delay, and spastic quadriplegia in their childhood. RESULTS: Brain MRI and CT showed progressive white matter atrophy from gestation to five-year follow-up or later. Minor cerebral hemorrhage without symptoms occasionally occurred in one patient. Despite brain changes, the clinical picture was stable during early childhood. CONCLUSIONS: COL4A1 mutations may cause progressive cerebral atrophy beyond early childhood.

    DOI: 10.1016/j.braindev.2021.06.008

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  • Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant. International journal

    Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, Noriko Kasagi, Noriko Miyake, Naomichi Matsumoto, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki

    Human genome variation   8 ( 1 )   26 - 26   2021.7

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    Epilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-year-old male with a novel heterozygous DYRK1A variant (NM_001396.4: c.957C>G, p.Tyr319*); based on previous reports, epilepsy with this syndrome tends to be well controlled. Follow-up MRIs of the patient's lesion revealed slightly reduced signal intensity compared to the first image.

    DOI: 10.1038/s41439-021-00157-7

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  • Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series. International journal

    Shimpei Baba, Tohru Okanishi, Yoichiro Homma, Takeshi Yoshida, Tomohide Goto, Tatsuya Fukasawa, Satoru Kobayashi, Atsushi Kamei, Yuji Fujii, Naomi Hino-Fukuyo, Keitaro Yamada, Atsuro Daida, Hisashi Kawawaki, Hideki Hoshino, Hitoshi Sejima, Yusuke Ishida, Tetsuya Okazaki, Takehiko Inui, Sotaro Kanai, Hirotaka Motoi, Shinji Itamura, Mitsuyo Nishimura, Hideo Enoki, Ayataka Fujimoto

    Epilepsia open   6 ( 2 )   402 - 412   2021.6

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    Objectives: Long-term adrenocorticotropic therapy (LT-ACTH), which consisted of 2-4 weeks of daily injections of adrenocorticotropic hormone (ACTH) and subsequent months of weekly injections, was tried for relapsed West syndrome (WS) or other intractable epilepsies in small case reports. Our aim was to explore the efficacy of LT-ACTH for preventing WS relapse, as well as the prevalence of its adverse events. Methods: This is a retrospective, nationwide, multicenter case series of patients with WS who underwent LT-ACTH. Clinical information of the patients and protocol of LT-ACTH were collected from participating institutes in this study. We defined clinical response to ACTH as achievement of hypsarrhythmia and epileptic spasms resolution. Patients who responded to daily ACTH injections were identified and assessed whether they experienced WS relapse during/after the weekly ACTH injection period. The outcome was measured by the nonrelapse rate at 24 months after daily ACTH injections using the Kaplan-Meier method. Results: Clinical information of 16 children with WS was analyzed. The median age at LT-ACTH initiation was 14.5 months (range: 7-68 months). Thirteen (81%) patients had previously undergone conventional ACTH treatment. The LT-ACTH regimens comprised a median of 16 days of daily injections (range: 11-28 days) and 10 months of weekly injections (range: 3-22 months). Seven patients experienced WS relapse during/after subsequent weekly ACTH period, and the nonrelapse rate at 24 months after daily injections was estimated at 60.6% (95% confidence interval: 32.3%-80.0%). Height stagnation, hypertension, and irritability were observed; lethal adverse events were not reported. Significance: Our study firstly explored the efficacy of LT-ACTH for preventing WS relapse. LT-ACTH might be a treatment option for patients with relapsed or intractable WS; however, we note that our study is limited by its small sample size and the lack of an appropriate control group.

    DOI: 10.1002/epi4.12497

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  • Clinical Characteristics of Fragile X Syndrome Patients in Japan.

    Tetsuya Okazaki, Kaori Adachi, Kaori Matsuura, Yoshitaka Oyama, Madoka Nose, Emi Shirahata, Toshiaki Abe, Takeshi Hasegawa, Toshiro Maihara, Yoshihiro Maegaki, Eiji Nanba

    Yonago acta medica   64 ( 1 )   30 - 33   2021.2

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    Background: Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown. Methods: We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey. Results: We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (median = 29). Behavioral disorders were seen in all patients (autistic spectrum disorder in six patients, hyperactivity in five patients). Five patients were diagnosed by polymerase chain reaction analysis, and two patients were diagnosed by the cytogenetic study. All physicians ordered FXS genetic testing for suspicious cases because of clinical manifestations. Conclusion: In the present study, a long face, large ears, macrocephaly, autistic spectrum disorder, and hyperactivity were observed in almost cases, and these characteristics might be common features in Japanese FXS patients. Our finding indicated the importance of clinical manifestations to diagnosis FXS. However, the sample size of the present study is small, and these features are also seen to patients with other disorders. We consider that genetic testing for FXS should be performed on a wider range of intellectually disabled cases.

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  • Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13. International journal

    Nobuhiro Suzumori, Akihiko Sekizawa, Eri Takeda, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Masayuki Yamaguchi, Shinya Tairaku, Kazuhisa Maeda, Takashi Kaji, Yoko Okamoto, Masayuki Endo, Masaki Ogawa, Yasuyo Kasai, Kiyotake Ichizuka, Naoki Yamada, Akinori Ida, Norio Miharu, Satoshi Kawaguchi, Yasuyuki Hasuo, Tetsuya Okazaki, Mayuko Ichikawa, Shunichiro Izumi, Naohiko Kuno, Junko Yotsumoto, Miyuki Nishiyama, Nahoko Shirato, Tatsuko Hirose, Haruhiko Sago

    European journal of obstetrics, gynecology, and reproductive biology   256   75 - 81   2021.1

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    OBJECTIVE: Maternal characteristics and neonatal outcomes associated with cell-free DNA (cfDNA) results were analysed retrospectively to assess the details of false-positive and false-negative results after initial blood sampling in non-invasive prenatal testing (NIPT). STUDY DESIGN: A multicentre retrospective study was performed for women undergoing NIPT who received discordant cfDNA results between April 2013 and March 2018. The NIPT data obtained using massive parallel sequencing were studied in terms of maternal background, fetal fraction, z-scores, invasive procedure results and neonatal outcomes after birth. RESULTS: Of the 56,545 women who participated in this study, 54 false-positive (0.095 %) and three false-negative (0.006 %) cases were found. Seven of the 54 false-positive cases (13.0 %) had vanishing twin on ultrasonography. Among the 18 false-positive cases of trisomy 18, confined placental mosaicism (CPM) was confirmed in three cases (16.7 %), while CPM was present in one of the three false-negative cases of trisomy 21. CONCLUSION: These data suggest that the incidence of women with false-positive or false-negative results is relatively low, that such false results can often be explained, and that vanishing twin and CPM are potential causes of NIPT failure. Genetic counselling with regard to false results is important for clients prior to undergoing NIPT.

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  • Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. International journal

    Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel S Honjo, Debora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock-Hock Ngu, Ch'ng G Siew, Keng W Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin-Ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto

    Human mutation   42 ( 1 )   50 - 65   2020.11

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    Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a better performance has not been fully addressed. ES of 1199 samples including 763 patients with different disease profiles was performed. ES data were analyzed to detect CNVs by both the eXome Hidden Markov Model (XHMM) and modified Nord's method. To efficiently detect rare CNVs, we aimed to decrease sequencing biases by analyzing, at the same time, the data of all unrelated samples sequenced in the same flow cell as a batch, and to eliminate sex effects of X-linked CNVs by analyzing female and male sequences separately. We also applied several filtering steps for more efficient CNV selection. The average number of CNVs detected in one sample was <5. This optimization together with targeted CNV analysis by Nord's method identified pathogenic/likely pathogenic CNVs in 34 patients (4.5%, 34/763). In particular, among 142 patients with epilepsy, the current protocol detected clinically relevant CNVs in 19 (13.4%) patients, whereas the previous protocol identified them in only 14 (9.9%) patients. Thus, this batch-based XHMM analysis efficiently selected rare pathogenic CNVs in genetic diseases.

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  • Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis. International journal

    Naomi Tani, Nanako Yamada, Tetsuya Okazaki, Takashi Horie, Hajime Nakano, Daisuke Sawamura, Osamu Yamamoto

    Acta dermato-venereologica   100 ( 17 )   adv00285   2020.10

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  • Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants. Reviewed International journal

    Tetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, Kaori Adachi, Masachika Kai, Mariko Okubo, Ichizo Nishino, Eiji Nanba, Yoshihiro Maegaki

    Human genome variation   7   12 - 12   2020

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    A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.

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  • Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders. Reviewed

    Mitsutaka Ebiki, Tetsuya Okazaki, Masachika Kai, Kaori Adachi, Eiji Nanba

    Yonago acta medica   62 ( 3 )   244 - 252   2019.9

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    Background: During the investigation of causative variants of Mendelian disorders using next-generation sequencing, the enormous number of possible candidates makes the detection process complex, and the use of multidimensional methods is required. Although the utility of several variant prioritization tools has been reported, their effectiveness in Japanese patients remains largely unknown. Methods: We selected 5 free variant prioritization tools (PhenIX, hiPHIVE, Phen-Gen, eXtasy-order statistics, and eXtasy-combined max) and assessed their effectiveness in Japanese patient populations. To compare these tools, we conducted 2 studies: one based on simulated data of 100 diseases and another based on the exome data of 20 in-house patients with Mendelian disorders. To this end we selected 100 pathogenic variants from the "Database of Pathogenic Variants (DPV)" and created 100 variant call format (VCF) files that each had pathogenic variants based on reference human genome data from the 1000 Genomes Project. The later "in-house" study used exome data from 20 Japanese patients with Mendelian disorders. In both studies, we utilized 1-5 terms of "Human Phenotype Ontology" as clinical information. Results: In our analysis based on simulated disease data, the detection rate of the top 10 causative variants was 91% for hiPHIVE, and 88% for PhenIX, based on 100 sets of simulated disease VCF data. Also, both software packages detected 82% of the top 1 causative variants. When we used data from our in-house patients instead, we found that these two programs (PhenIX and hiPHIVE) produced higher detection rates than the other three systems in our study. The detection rate of the top 1 causative variant was 71.4% for PhenIX, 65.0% for hiPHIVE. Conclusion: The rates of detecting causative variants in two Exomizer software packages, hiPHIVE and PhenIX, were higher than for the other three software systems we analyzed, with respect to Japanese patients.

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  • Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Reviewed International journal

    Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, Eiji Nakagawa, Tetsuya Okazaki, Yoshiko Nomura, Yoshitaka Iijima, Ichiro Kajiura, Kenji Sugai, Takashi Saito, Masayuki Sasaki, Kotaro Yuge, Tomoko Saikusa, Nobuhiko Okamoto, Satoru Takahashi, Masano Amamoto, Ichiro Tomita, Satoko Kumada, Yuki Anzai, Kyoko Hoshino, Aviva Fattal-Valevski, Naohide Shiroma, Masaharu Ohfu, Masaharu Moroto, Koichi Tanda, Tomoko Nakagawa, Takafumi Sakakibara, Shin Nabatame, Muneaki Matsuo, Akiko Yamamoto, Shoko Yukishita, Ken Inoue, Chikako Waga, Yoko Nakamura, Shoko Watanabe, Chihiro Ohba, Toru Sengoku, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Hirotomo Saitsu, Toyojiro Matsuishi, Yu-Ichi Goto, Naomichi Matsumoto

    Journal of medical genetics   56 ( 6 )   396 - 407   2019.6

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    BACKGROUND: Rett syndrome (RTT) is a characteristic neurological disease presenting with regressive loss of neurodevelopmental milestones. Typical RTT is generally caused by abnormality of methyl-CpG binding protein 2 (MECP2). Our objective to investigate the genetic landscape of MECP2-negative typical/atypical RTT and RTT-like phenotypes using whole exome sequencing (WES). METHODS: We performed WES on 77 MECP2-negative patients either with typical RTT (n=11), atypical RTT (n=22) or RTT-like phenotypes (n=44) incompatible with the RTT criteria. RESULTS: Pathogenic or likely pathogenic single-nucleotide variants in 28 known genes were found in 39 of 77 (50.6%) patients. WES-based CNV analysis revealed pathogenic deletions involving six known genes (including MECP2) in 8 of 77 (10.4%) patients. Overall, diagnostic yield was 47 of 77 (61.0 %). Furthermore, strong candidate variants were found in four novel genes: a de novo variant in each of ATPase H+ transporting V0 subunit A1 (ATP6V0A1), ubiquitin-specific peptidase 8 (USP8) and microtubule-associated serine/threonine kinase 3 (MAST3), as well as biallelic variants in nuclear receptor corepressor 2 (NCOR2). CONCLUSIONS: Our study provides a new landscape including additional genetic variants contributing to RTT-like phenotypes, highlighting the importance of comprehensive genetic analysis.

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  • Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy. Reviewed International journal

    Masayuki Itoh, Hongmei Dai, Shin-Ichi Horike, John Gonzalez, Yoshikazu Kitami, Makiko Meguro-Horike, Ichiro Kuki, Shuichi Shimakawa, Harumi Yoshinaga, Yoko Ota, Tetsuya Okazaki, Yoshihiro Maegaki, Shin Nabatame, Shin Okazaki, Hisashi Kawawaki, Naoto Ueno, Yu-Ichi Goto, Yoichi Kato

    Brain : a journal of neurology   142 ( 3 )   560 - 573   2019.3

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    The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable and progressive course that often leads to premature death. It has recently been reported that abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked to various unique leukodystrophies and leukoencephalopathies. Aminoacyl t-RNA synthetase proteins are fundamentally known as the first enzymes of translation, catalysing the conjugation of amino acids to cognate tRNAs for protein synthesis. It is known that certain aminoacyl t-RNA synthetase have multiple non-canonical roles in both transcription and translation, and their disruption results in varied and complicated phenotypes. We clinically and genetically studied seven patients (six male and one female; aged 2 to 12 years) from five unrelated families who all showed the same phenotypes of severe developmental delay or arrest (7/7), hypotonia (6/7), deafness (7/7) and inability to speak (6/7). The subjects further developed intractable epilepsy (7/7) and nystagmus (6/6) with increasing age. They demonstrated characteristic laboratory data, including increased lactate and/or pyruvate levels (7/7), and imaging findings (7/7), including calcification and abnormal signals in the white matter and pathological involvement (2/2) of the corticospinal tracts. Through whole-exome sequencing, we discovered genetic abnormalities in lysyl-tRNA synthetase (KARS). All patients harboured the variant [c.1786C>T, p.Leu596Phe] KARS isoform 1 ([c.1702C>T, p.Leu568Phe] of KARS isoform 2) either in the homozygous state or compound heterozygous state with the following KARS variants, [c.879+1G>A; c.1786C>T, p.Glu252_Glu293del; p.Leu596Phe] ([c.795+1G>A; c.1702C>T, p.Glu224_Glu255del; p.Leu568Phe]) and [c.650G>A; c.1786C>T, p.Gly217Asp; p.Leu596Phe] ([c.566G>A; c.1702C>T, p.Gly189Asp; p.Leu568Phe]). Moreover, similarly disrupted lysyl-tRNA synthetase (LysRS) proteins showed reduced enzymatic activities and abnormal CNSs in Xenopus embryos. Additionally, LysRS acts as a non-canonical inducer of the immune response and has transcriptional activity. We speculated that the complex functions of the abnormal LysRS proteins led to the severe phenotypes in our patients. These KARS pathological variants are novel, including the variant [c.1786C>T; p.Leu596Phe] (c.1702C>T; p.Leu568Phe) shared by all patients in the homozygous or compound-heterozygous state. This common position may play an important role in the development of severe progressive leukodystrophy. Further research is warranted to further elucidate this relationship and to investigate how specific mutated LysRS proteins function to understand the broad spectrum of KARS-related diseases.

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  • Three Japanese patients with 3p13 microdeletions involving FOXP1. Reviewed International journal

    Keiko Yamamoto-Shimojima, Nobuhiko Okamoto, Wataru Matsumura, Tetsuya Okazaki, Toshiyuki Yamamoto

    Brain & development   41 ( 3 )   257 - 262   2019.3

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    BACKGROUND: FOXP1 is known as the gene responsible for neurodevelopmental delay associated with language impairment. Broad clinical findings also include feeding difficulty, muscular hypotonia, and distinctive features. These findings are common between patients with loss-of-function mutations in FOXP1 and 3p13 microdeletion involving FOXP1. Thus, "FOXP1-related intellectual disability syndrome" is now recommended. METHODS: After obtaining informed consent, chromosomal microarray testing was performed for patients with unknown etiology. RESULTS: We identified three Japanese patients with 3p13 microdeletions involving FOXP1. One of the patients showed an additional 1q31.3q32.1 deletion as de novo, which was rather considered as a benign copy number variant. CONCLUSION: This is the first report of patients with 3p13 microdeletions from Japan. All patients showed growth delay, moderate to severe developmental delay, hearing loss, and distinctive facial features including prominent forehead and mid facial hypoplasia. In addition, "square shaped face" commonly observed in all three patients may be a characteristic finding undescribed previously. From the obtained findings, "FOXP1-related intellectual disability syndrome" was considered to be clinically recognizable.

    DOI: 10.1016/j.braindev.2018.10.016

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  • Recurrent Erythema Nodosum in a Child with a SHOC2 Gene Mutation. Reviewed

    Tetsuya Okazaki, Yoshiaki Saito, Kazunari Sugita, Kanae Nosaka, Koyo Ohno, Yumie Hiraoka, Noriko Kasagi, Mitsutaka Ebiki, Satoshi Narai, Yuki Kawashima, Shuichi Takano, Masachika Kai, Kaori Adachi, Osamu Yamamoto, Eiji Nanba, Yoshihiro Maegaki

    Yonago acta medica   62 ( 1 )   159 - 162   2019.3

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    We report the case of a 6-year-old male who developed recurrent erythema nodosum (EN) at the age of 3 years. The patient exhibited hypertelorism, low-set ears, micrognathia, moderate intellectual disability, thin long fingers, loose anagen hair, and prominent palmoplantar wrinkles. A heterozygous single nucleotide variant in the SHOC2 gene (c.4 A > G, p.S2G) was identified. Patients with a SHOC2 mutation exhibit a unique combination of ectodermal abnormalities including darkly pigmented skin and loose anagen hair. This report is the first to describe EN in a patient with SHOC2 mutation, and to examine the patient's hair using scanning electron microscopy. We hypothesize that the RAS/MAPK pathway is associated with the pathogenesis of cutaneous lesions in patients with SHOC2 mutations via autoinflammation and disturbance of epithelial stem cells.

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  • MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Reviewed International journal

    William B Dobyns, Kimberly A Aldinger, Gisele E Ishak, Ghayda M Mirzaa, Andrew E Timms, Megan E Grout, Marjolein H G Dremmen, Rachel Schot, Laura Vandervore, Marjon A van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S Lee, Brenda J Barry, Katherine R Chao, Krzysztof Szczałuba, Joyce Kobori, Andrea Hanson-Kahn, Jonathan A Bernstein, Lucinda Carr, Felice D'Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M Wheeler, Michael J Bamshad, Deborah A Nickerson, Elizabeth C Engle, Frans W Verheijen, Dan Doherty, Grazia M S Mancini

    American journal of human genetics   103 ( 6 )   1009 - 1021   2018.12

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    To date, mutations in 15 actin- or microtubule-associated genes have been associated with the cortical malformation lissencephaly and variable brainstem hypoplasia. During a multicenter review, we recognized a rare lissencephaly variant with a complex brainstem malformation in three unrelated children. We searched our large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant), analyzed available whole-exome or -genome sequencing data, and tested ciliogenesis in two affected individuals. The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers. We discovered heterozygous de novo missense variants or an in-frame deletion involving highly conserved zinc-binding residues within the GAR domain of MACF1 in the first eight subjects. We studied cilium formation and found a higher proportion of mutant cells with short cilia than of control cells with short cilia. A ninth child had similar lissencephaly but only subtle brainstem dysplasia associated with a heterozygous de novo missense variant in the spectrin repeat domain of MACF1. Thus, we report variants of the microtubule-binding GAR domain of MACF1 as the cause of a distinctive and most likely pathognomonic brain malformation. A gain-of-function or dominant-negative mechanism appears likely given that many heterozygous mutations leading to protein truncation are included in the ExAC Browser. However, three de novo variants in MACF1 have been observed in large schizophrenia cohorts.

    DOI: 10.1016/j.ajhg.2018.10.019

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  • Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. Reviewed International journal

    T Okazaki, Y Saito, T Hayashida, S Akaboshi, N Miyake, N Matsumoto, N Kasagi, K Adachi, Y Shinohara, E Nanba, Y Maegaki

    Clinical genetics   94 ( 3-4 )   391 - 392   2018.10

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    LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies.

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  • Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease. Reviewed International journal

    Teresa Mena-Barragán, M Isabel García-Moreno, Alen Sevšek, Tetsuya Okazaki, Eiji Nanba, Katsumi Higaki, Nathaniel I Martin, Roland J Pieters, José M García Fernández, Carmen Ortiz Mellet

    Molecules (Basel, Switzerland)   23 ( 4 )   2018.4

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    A series of sp²-iminosugar glycomimetics differing in the reducing or nonreducing character, the configurational pattern (d-gluco or l-ido), the architecture of the glycone skeleton, and the nature of the nonglycone substituent has been synthesized and assayed for their inhibition properties towards commercial glycosidases. On the basis of their affinity and selectivity towards GH1 β-glucosidases, reducing and nonreducing bicyclic derivatives having a hydroxylation profile of structural complementarity with d-glucose and incorporating an N′-octyl-isourea or -isothiourea segment were selected for further evaluation of their inhibitory/chaperoning potential against human glucocerebrosidase (GCase). The 1-deoxynojirimycin (DNJ)-related nonreducing conjugates behaved as stronger GCase inhibitors than the reducing counterparts and exhibited potent chaperoning capabilities in Gaucher fibroblasts hosting the neuronopathic G188S/G183W mutation, the isothiourea derivative being indeed one of the most efficient chaperone candidates reported up to date (70% activity enhancement at 20 pM). At their optimal concentration, the four selected compounds promoted mutant GCase activity enhancements over 3-fold; yet, the inhibitor/chaperoning balance became unfavorable at much lower concentration for nonreducing as compared to reducing derivatives.

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  • Use of high b value diffusion-weighted magnetic resonance imaging in acute encephalopathy/encephalitis during childhood. Reviewed International journal

    Yoshiko Tsubouchi, Shinji Itamura, Yoshiaki Saito, Eijiro Yamashita, Yuki Shinohara, Tetsuya Okazaki, Koyo Ohno, Yoko Nishimura, Masayoshi Oguri, Yoshihiro Maegaki

    Brain & development   40 ( 2 )   116 - 125   2018.2

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    AIM: To determine the use of high b value diffusion-weighted imaging (DWI) in the diagnosis and assessment of acute febrile encephalopathy/encephalitis in childhood. SUBJECTS AND METHODS: We enrolled 22 children, for whom we examined DWI with b=1000s/mm2, DWI with b=3000s/mm2, and apparent diffusion coefficient (ADC) map with b=1000 during the acute phase of febrile encephalopathy/encephalitis. Clinical diagnoses included acute encephalopathy with biphasic seizures and late reduced diffusion (AESD; n=6), clinically mild encephalopathy/encephalitis with a reversible splenial lesion (MERS; n=6), and herpes simplex virus encephalitis (HSE; n=3), unclassified acute encephalopathy/acute encephalitis (n=2); acute encephalitis with refractory, repetitive partial seizures (AERRPS; n=1); other encephalopathy (n=1); infarction (n=1); head injury (n=1); or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (n=1). The diagnostic quality of brain lesions was compared between b=1000 and b=3000 DWI images by visual inspection. In addition, we attempted a quantitative assessment using apparent diffusion coefficient (ADC) value and an index of signal intensity (SI) ratio, defined as the mean SI at the affected lesion divided by the mean SI at the pons. RESULTS: High intensity lesions were either visible only on b=3000 DWI (n=5; 2 AESD, 1 MERS, 1 HSE, and 1 unclassifiable encephalopathy) or more effectively identified on b=3000 DWI than on b=1000 DWI (n=17). The outcome of the former five subjects was favorable, without motor or intellectual sequelae. The mean SI ratio of b=3000 was significantly greater than that of b=1000 in AESD and MERS subgroups as well as in all 22 subjects. Mean ADC values were lower in the AESD and MERS than that in the HSE subgroups. CONCLUSION: We concluded that b=3000 DWI was superior to b=1000 DWI in detecting abnormal lesions in acute encephalopathy/encephalitis during childhood.

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  • Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis. Reviewed International journal

    Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki

    Brain & development   40 ( 1 )   36 - 41   2018.1

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    PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1). Male gender was significantly linked to these disorders, whereas a family history and degree of macrocephaly were not significantly linked to the diagnosis. A novel mutation in the PTEN gene was identified in a 16-year-old girl with autism, mental retardation, language delay, extreme macrocephaly (+4.7SD) with a prominent forehead, and digital minor anomalies. CONCLUSION: Children with macrocephaly, particularly males, are at a higher risk of neurodevelopmental disorders, rather than progressive etiologies, such as hydrocephalus and neurodegenerative disorders. The data provide a basis for routine health checks for young children in Japan, including the follow-up management and possible screening of PTEN mutations in children with ASDs and macrocephaly.

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  • Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1. Reviewed International journal

    Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, Shinji Saitoh, Masachika Kai, Kaori Adachi, Yoko Nishimura, Eiji Nanba, Yoshihiro Maegaki

    Epileptic disorders : international epilepsy journal with videotape   19 ( 3 )   339 - 344   2017.9

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    SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds. Ictal EEG showed rhythmic, generalized slow or spike-and-wave complex activity with posterior predominance. Moderate psychomotor developmental delay and unsteady gait were also noted. Neuroimaging results were normal. Seizures were refractory to carbamazepine and levetiracetam but were reduced in frequency by ethosuximide and lamotrigine administration. Genetic analysis identified a c.3583-6 G>A mutation in the SYNGAP1 gene. SYNGAP1 gene analysis should be considered for intellectually disabled patients with early-onset drug resistant eyelid twitching and photosensitivity. Further clinical research on SYNGAP1 function may be necessary to treat epilepsy of this aetiology. [Published with video sequence on www.epilepticdisorders.com].

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  • Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy. Reviewed International journal

    Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Masami Togawa, Chisako Fukuda, Yuko Saito, Ichizo Nishino, Yoshihiro Maegaki

    Brain & development   39 ( 7 )   617 - 620   2017.8

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    A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0.2-0.4s, concomitant with muscle discharges on surface EMG in the right foot muscles. These findings were compatible with contraction fasciculation in muscles under chronic reinnervation. Nerve and muscle biopsies were suggestive of chronic motor, sensory, and autonomic neuropathy. This is the first case of pediatric peripheral neuropathy where muscle fasciculation was noninvasively identified by simultaneous surface EMG and ultrasonography.

    DOI: 10.1016/j.braindev.2017.02.006

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  • Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis. Reviewed International journal

    Tetsuya Okazaki, Yoshiaki Saito, Riyo Ueda, Takeya Awashima, Yoko Nishimura, Isao Yuasa, Yuki Shinohara, Kaori Adachi, Masayuki Sasaki, Eiji Nanba, Yoshihiro Maegaki

    Brain & development   39 ( 1 )   67 - 71   2017.1

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    Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and histopathological features of HCH are similar, but milder than those seen in achondroplasia. Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. We report a 3-year-old girl who developed recurrent epileptic apnea, which started immediately after birth. The apneic seizures were refractory to antiepileptic medications; ictal electroencephalography showed rhythmic activity originating from the left or right temporal areas and rarely from the right frontal area. Macrocephaly was noted since birth. Neuroimaging revealed bilateral dysgenesis and hypometabolism of the medial temporal structures as well as perfusion changes in the left lateral temporofrontal areas during the ictal period. Clonazepam was initiated and acetazolamide dosage was increased at 6months, resulting in complete seizure control after 8months of age. Genetic analysis identified an Asn540Lys (c.1620 C>A) mutation in the FGFR3 gene. Characteristic bone findings on the lumbar spine, iliac bone, and femur were retrospectively confirmed on X-rays during infancy. This was the first report that delineated the epilepsy phenotype in FGFR3-related bilateral medial temporal lobe dysgenesis; such findings would lead to an early diagnosis and better epilepsy management.

    DOI: 10.1016/j.braindev.2016.07.004

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  • Characterization of SPATA5-related encephalopathy in early childhood. Reviewed International journal

    H Kurata, H Terashima, M Nakashima, T Okazaki, W Matsumura, K Ohno, Y Saito, Y Maegaki, M Kubota, E Nanba, H Saitsu, N Matsumoto, M Kato

    Clinical genetics   90 ( 5 )   437 - 444   2016.11

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    Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and neuroimaging findings. Using whole-exome sequencing and Sanger sequencing, we identified three children with SPATA5 mutations from two families. Two siblings carried compound heterozygous mutations, c.989_991del (p.Thr330del) and c.2130_2133del (p.Glu711Profs*21), and the third child had c.967T>A (p.Phe323Ile) and c.2146G>C (p.Ala716Pro) mutations. The three patients manifested microcephaly, psychomotor retardation, hypotonus or hypertonus, and bilateral hearing loss from early infancy. Common facies were a depressed nasal bridge/ridge, broad eyebrows, and retrognathia. Epileptic spasms or tonic seizures emerged at 6-12 months of age. Interictal electroencephalography showed multifocal spikes and bursts of asynchronous diffuse spike-wave complexes. Augmented amplitudes of visually evoked potentials were detected in two patients. Magnetic resonance imaging revealed hypomyelination, thin corpus callosum, and progressive cerebral atrophy. Blood copper levels were also elevated or close to the upper normal levels in these children. Clinical delineation of the SPATA5-related encephalopathy should improve diagnosis, facilitating further clinical and molecular investigation.

    DOI: 10.1111/cge.12813

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  • Successful treatment of migrating partial seizures in Wolf-Hirschhorn syndrome with bromide. Reviewed International journal

    Ayako Itakura, Yoshiaki Saito, Yoko Nishimura, Tetsuya Okazaki, Koyo Ohno, Hitoshi Sejima, Toshiyuki Yamamoto, Yoshihiro Maegaki

    Brain & development   38 ( 7 )   658 - 62   2016.8

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    A girl with mild psychomotor developmental delay developed right or left hemiclonic convulsion at 10months of age. One month later, clusters of hemiclonic or bilateral tonic seizures with eyelid twitching emerged, resulting in status epilepticus. Treatment with phenobarbital and potassium bromide completely terminated the seizures within 10days. Ictal electroencephalography revealed a migrating focus of rhythmic 3-4Hz waves from the right temporal to right frontal regions and then to the left frontal regions. Genetic analysis was conducted based on the characteristic facial appearance of the patient, which identified a 2.1-Mb terminal deletion on chromosome 4p. This is the first case of Wolf-Hirschhorn syndrome complicated by epilepsy with migrating partial seizures.

    DOI: 10.1016/j.braindev.2016.01.001

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  • Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing. Reviewed

    Tetsuya Okazaki, Megumi Murata, Masachika Kai, Kaori Adachi, Naoko Nakagawa, Noriko Kasagi, Wataru Matsumura, Yoshihiro Maegaki, Eiji Nanba

    Yonago acta medica   59 ( 2 )   118 - 25   2016.6

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    BACKGROUND: Genetic diagnoses provide beneficial information to patients and families. However, traditional genetic diagnoses are often difficult even for experienced clinicians and require recognition of characteristic patterns of signs or symptoms to guide targeted genetic testing for the confirmation of diagnoses. Next-generation sequencing (NGS) is a powerful genetic diagnostic tool. However, whole-genome and whole-exome sequencing (WES) are expensive, and the interpretation of results is difficult. Hence, target gene capture sequencing of gene panels has recently been applied to genetic diagnoses. Herein, we demonstrate that targeted sequencing approaches using gene panel testing are highly efficient for the diagnosis of Mendelian disorders. METHODS: NGS using TruSight one gene panel was performed in 17 families and 20 patients, and we developed a bioinformatic pipeline at our institution for detecting mutations. RESULTS: We detected causative mutations in 6 of 17 (35%) families. In particular, 11 (65%) families had syndromic diagnosis and 6 (35%) had no syndromic diagnosis before NGS testing. The number of positive diagnoses was 5 of 11 (45%) in the syndromic group and were 1 of 6 (17%) among patients of the no syndromic diagnosis group. CONCLUSION: Diagnostic yields in the present study were higher than in previous reports of genetic and chromosomal tests and WES. The present comprehensive gene-targeted panel test is a powerful diagnostic tool for Mendelian disorders.

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  • Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata. Reviewed International journal

    Tetsuya Okazaki, Yoshiaki Saito, Riyo Ueda, Susumu Sugihara, Akiko Tamasaki, Yoko Nishimura, Koyo Ohno, Masami Togawa, Takako Ohno, Akiyoshi Horie, Masashi Honda, Atsushi Takenaka, Hideki Nagashima, Yoshihiro Maegaki

    Pediatric neurology   56   80 - 85   2016.3

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    BACKGROUND: Dystonia due to spinal lesions in adult patients is characterized by the provocation and/or amelioration of the spasm by somatosensory stimulation with a sensory trick. PATIENT DESCRIPTION: An infant with brachytelephalangic chondrodysplasia punctata developed flaccid tetraplegia due to cervical cord compression resulting from congenital atlantoaxial dislocation. Episodic, tonic extension of the extremities, neck, and trunk had appeared daily since age two years and was often provoked by tactile stimulation. Although decompression surgery was performed at age three years, progressive spinal deformity resulted in the aggravation of episodic dystonia thereafter, lasting for hours. Foot dorsiflexion and wearing a truncal brace for scoliosis inhibited these spasms. Intrathecal baclofen bolus injection transiently ameliorated the paroxysmal dystonia and detrusor-sphincter dyssynergia in the lower urinary tract. CONCLUSION: Paroxysmal dystonia is unusual in children with spinal cord lesions; however, it should be recognized for appropriate individualized clinical management.

    DOI: 10.1016/j.pediatrneurol.2015.11.011

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  • Significance of Glutathione-Mediated Scavenger Potency in the Development of Seizure Susceptibility in the EL Mouse Brain Reviewed

    Kawakami Yasuhiko, Murashima Yoshiya L, Tsukimoto Mitsutoshi, Baba Asami, Miyatake Chiharu, Okazaki Tetsuya, Takagi Atsushi, Koizumi Shinya, Kojima Shuji, Fujino Osamu, Itoh Yasuhiko

    JOURNAL OF PEDIATRIC EPILEPSY   4 ( 2 )   67 - 71   2015.6

  • A Girl with Idiopathic Epilepsy Showing Forced Normalization after Levetiracetam Administration. Reviewed

    Yasuhiko Kawakami, Tetsuya Okazaki, Masato Takase, Osamu Fujino, Yasuhiko Itoh

    Journal of Nippon Medical School = Nippon Ika Daigaku zasshi   82 ( 5 )   250 - 3   2015

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    BACKGROUND: Forced normalization has been reported in association with almost all anti-epileptic drugs. PATIENT: We report on a 9-year-old girl with idiopathic epilepsy who showed forced normalization after administration of levetiracetam (LEV). She initially presented with generalized tonic-clonic seizures when she was 4 years old. Diffuse sharp and slow wave complexes (SWCs) were observed on electroencephalography (EEG). We prescribed sodium valproate (VPA) and benzodiazepines, but the seizures and EEG findings worsened gradually. Although subsequent administration of LEV stopped the seizures, the patient became subject to episodes of rage and violent behavior. Forced normalization was confirmed by the disappearance of SWCs on EEG. We reduced the dose of LEV and tried in various ways to resolve the situation, but finally we had to abandon LEV. CONCLUSIONS: To the best of our knowledge, this is the first report of a patient with idiopathic epilepsy but without disabilities in everyday life showing forced normalization associated with LEV administration.

    DOI: 10.1272/jnms.82.250

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  • Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. Reviewed International journal

    Yoko Mizoguchi, Miyuki Tsumura, Satoshi Okada, Osamu Hirata, Shizuko Minegishi, Kohsuke Imai, Nobuyuki Hyakuna, Hideki Muramatsu, Seiji Kojima, Yusuke Ozaki, Takehide Imai, Sachiyo Takeda, Tetsuya Okazaki, Tsuyoshi Ito, Shin'ichiro Yasunaga, Yoshihiro Takihara, Vanessa L Bryant, Xiao-Fei Kong, Sophie Cypowyj, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova, Tomohiro Morio, Masao Kobayashi

    Journal of leukocyte biology   95 ( 4 )   667 - 76   2014.4

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    CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD CMCD as a result of impaired dephosphorylation of STAT1. We aimed to identify and characterize STAT1 mutations in CMCD patients and to develop a simple diagnostic assay of CMCD. Genetic analysis of STAT1 was performed in patients and their relatives. The mutations identified were characterized by immunoblot and reporter assay using transient gene expression experiments. Patients' leukocytes are investigated by flow cytometry and immunoblot. Six GOF mutations were identified, three of which are reported for the first time, that affect the CCD and DBD of STAT1 in two sporadic and four multiplex cases in 10 CMCD patients from Japan. Two of the 10 patients presented with clinical symptoms atypical to CMCD, including other fungal and viral infections, and three patients developed bronchiectasis. Immunoblot analyses of patients' leukocytes showed abnormally high levels of pSTAT1 following IFN-γ stimulation. Based on this finding, we performed a flow cytometry-based functional analysis of STAT1 GOF alleles using IFN-γ stimulation and the tyrosine kinase inhibitor, staurosporine. The higher levels of pSTAT1 observed in primary CD14(+) cells from patients compared with control cells persisted and were amplified by the presence of staurosporine. We developed a flow cytometry-based STAT1 functional screening method that would greatly facilitate the diagnosis of CMCD patients with GOF STAT1 mutations.

    DOI: 10.1189/jlb.0513250

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  • Ceftriaxone投与に伴う偽胆石症を呈した重症心身障害児(者)の一例

    岡崎 哲也, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 中川 栄二, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌   39 ( 1 )   105 - 111   2014.4

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    Ceftriaxone(以下、CTRX)の投与後、一過性に胆嚢内に胆石様物質(偽胆石)が出現することが知られている。通常、数日程度で無症状のまま消失するが、われわれは、CTRX投与による偽胆石により胆石発作様の症状が出現し、さらに投与中止後長期間偽胆石が残存した症例を経験した。低酸素性虚血性脳症後遺症の大島分類1、常時人工呼吸器管理中の19歳女性で、5回の感染機会にCTRX投与を行った。CTRX投与から1ヵ月半後の腹部CTで胆嚢内に偽胆石を多量に認め、その後胆石発作様の症状が出現した。その後は無症状で経過したが、最終投与から4ヵ月後も、胆嚢内に多量の偽胆石を認めた。胆石発作様の症状が出現したこと、偽胆石が長期間残存したことの原因として、経管栄養により胆汁排泄能が低下していたこと、広範な中枢神経障害から、胆汁排泄に関する神経性調節の障害を有する可能性が考えられた。重症心身障害児(者)では、通常は無症状で改善する偽胆石でも症状を来す可能性があり、CTRXを使用する際には注意を要する。(著者抄録)

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  • Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery. Reviewed International journal

    Yukari Endo, Yoshiaki Saito, Taisuke Otsuki, Akio Takahashi, Yasuhiro Nakata, Kazue Okada, Mayumi Hirozane, Takanobu Kaido, Yuu Kaneko, Eiko Takada, Tetsuya Okazaki, Takashi Enokizno, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki

    Brain & development   36 ( 1 )   74 - 9   2014.1

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    An 8-year-old boy underwent a resection for focal cortical dysplasia at the left supplementary motor area (SMA) for the treatment of intractable epilepsy. The manifestations of SMA syndrome, such as transient mutism and right hemiparesis, resolved within a few weeks. Verbal disfluency and impaired executive function, accompanied by impulsivity and distractibility, persisted for more than 12months. The verbal and behavioral problems caused serious difficulties in the school life of the patient, until they became less evident at 18months after surgery. Tractography performed 18months after surgery revealed a defect in the subportion of fronto-parietal association fibers within the left superior longitudinal fascicles. Verbal influency can persist with unusually long duration after resection of SMA during childhood. Although not discernible on the routine neuroimaging, white matter damage beneath the SMA region could result in serious disabilities in executive function. These complications should be recognized for the prediction and assessment of deficits in children after surgical intervention involving this region.

    DOI: 10.1016/j.braindev.2013.01.002

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  • Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study. Reviewed International journal

    Takashi Saito, Yoshiaki Saito, Kenji Sugai, Eiji Nakagawa, Hirofumi Komaki, Tetsuya Okazaki, Yusaku Ishido, Yuu Kaneko, Takanobu Kaido, Akio Takahashi, Taisuke Ohtsuki, Hiroshi Sakuma, Masayuki Sasaki

    Brain & development   35 ( 6 )   531 - 9   2013.6

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    The aim of this study is to analyze the characteristics of epilepsies as the sequelae of acute febrile encephalopathy with prolonged convulsions during childhood. Sixteen patients (M:F=9:7) aged 2-13years (mean 6.1years) with history of febrile acute encephalopathy were retrospectively reviewed. These patients experienced febrile encephalopathy at the age of 11months to 4years, with 11 individuals presenting with findings of a biphasic clinical course (n=5), frontal predominant (n=8) lesions, and/or reduced diffusivity in the cerebral white matter on magnetic resonance imaging (MRI; n=3). The remaining 5 patients had unilateral lesions that manifested the phenotype of hemiconvulsion-hemiplegia-epilepsy syndrome (HHES). Epilepsy emerged with a latent period of 2months to 2years after the acute phase of febrile encephalopathy. Head nodding or spasm with subsequent motion arrest and brief tonic seizures were the main seizure phenotypes. Ictal records of epileptic seizures were available in 9 patients. Epileptiform discharges with a focal or uneven distribution appeared at the seizure onset and lasted less than 1s in all patients; these were followed by either generalized attenuation or fast activity in 8 patients with head nodding, spasm, or brief tonic seizures, and by localized fast activity in 1 patient with versive tonic seizures. Notably, the seizure onset area was often located outside the severe lesions on MRI, i.e., in the parietal areas in patients with frontal predominant lesions, and in the spared hemisphere of HHES. Although phenobarbital, zonisamide, carbamazepine, clobazam, clonazepam, and clorazepate were partially effective in some patients, daily seizures persisted in 11 patients. Callosotomy was performed in 2 patients, and beneficial effects were observed in both. These characteristics suggested a broad distribution of augmented excitability in these patients, resulting in the rapid propagation of epileptic activity in the initial phase of ictal phenomena. Thus, this study investigates the most severe subgroup of epilepsy following febrile acute encephalopathy and provides the basis for further exploration of the pathogenesis and treatment of characteristic seizures in this population.

    DOI: 10.1016/j.braindev.2012.08.007

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  • 驚愕てんかん発作の光トポグラフィーにおける前頭葉血液流量変化

    石山 昭彦, 中川 栄二, 鋤柄 小百合, 岡崎 哲也, 比屋根 真人, 福村 忍, 佐久間 啓, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 小林 巌

    てんかん研究   29 ( 3 )   482 - 489   2012.1

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    驚愕てんかんは不意の音刺激などで誘発される反射てんかんであるが、発作のてんかん原性焦点や刺激で発作が誘発される機序などは解明されていない。MRI画像上、右前頭葉に髄鞘化遅延の所見を呈するが、脳波、SPECTでは局在性をみとめない驚愕てんかん症例に、発作時の光トポグラフィー検査を施行し、発作に一致して右前頭葉の運動前野の血液流量上昇がみられ、てんかん発作の病態に前頭葉とくに運動前野の関与が示唆された。てんかん発作時の局在性の血液流量評価における光トポグラフィーの有用性が示された。また、驚愕てんかん発作における前頭葉運動前野の関与が示唆され、驚愕てんかんの病態解明の一助になりえると考えた。(著者抄録)

    DOI: 10.3805/jjes.29.482

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    Other Link: https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2012&ichushi_jid=J01742&link_issn=&doc_id=20120215150006&doc_link_id=10.3805%2Fjjes.29.482&url=https%3A%2F%2Fdoi.org%2F10.3805%2Fjjes.29.482&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_2.gif

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  • 小児科学

    前垣, 義弘, 小倉, 加恵子, 奈良, 勲, 鎌倉, 矩子(担当:分担執筆)

    医学書院  2023.1  ( ISBN:9784260050135

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    Total pages:xiv, 270p   Language:Japanese

    CiNii Books

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  • 小児神経専門医テキスト

    日本小児神経学会( Role: Contributor)

    診断と治療社  2017  ( ISBN:9784787822772

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    Total pages:xvi, 362p   Language:Japanese

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  • 診療実践小児神経科 : 小児神経疾患のプライマリ・ケア

    鳥取大学医学部脳神経小児科( Role: Contributor)

    診断と治療社  2016  ( ISBN:9784787822123

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    Total pages:xvi, 374p   Language:Japanese

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  • イメージからせまる小児神経疾患50 : 症例から学ぶ診断・治療プロセス

    日本小児神経学会, 杉田, 克生, 林, 雅晴, 後藤, 知英( Role: Contributor)

    診断と治療社  ( ISBN:9784787817884

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    Total pages:冊   Language:Japanese

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MISC

  • 【遺伝を考える】(II章)遺伝学的診断 保険収載されている遺伝学的検査

    難波 栄二, 岡崎 哲也, 足立 香織

    日本医師会雑誌   152 ( 特別1 )   S84 - S88   2023.6

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    Language:Japanese   Publisher:(公社)日本医師会  

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  • 遺伝学的検査における遺伝カウンセリングの実際

    岡崎哲也

    遺伝子医学   ( 44 )   2023.4

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  • 【今知っておきたいゲノム医療と遺伝子治療-基礎から臨床まで】遺伝子解析法の種類と特徴

    岡崎 哲也, 難波 栄二

    小児内科   54 ( 2 )   259 - 263   2022.2

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    Language:Japanese   Publisher:(株)東京医学社  

    <Key Points>(1)遺伝子解析技術はここ20年で飛躍的な進歩を遂げた。(2)マイクロアレイ染色体検査、次世代シーケンサー解析が臨床に用いられるようになっている。(3)ヒトは染色体や遺伝子の「変化」を多数有している。(4)見いだされた「変化」から症状に関連するものを同定する必要がある。(5)病的意義の解釈における診療体制構築が求められる。(著者抄録)

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  • 【周産期医学必修知識(第9版)】先天異常と包括的遺伝学的診断システム

    岡崎 哲也, 奈良井 哲, 難波 栄二

    周産期医学   51 ( 増刊 )   550 - 553   2021.12

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  • 【新型コロナウイルス関連特集】教育面(実践報告2) 各遺伝カウンセラー養成コースの取り組み 新型コロナウイルス感染拡大下の鳥取大学の高度臨床実践者(認定遺伝カウンセラー)養成の履修モデルにおける取り組み

    岡崎 哲也, 松浦 香里, 笠城 典子, 前垣 義弘, 難波 栄二

    日本遺伝カウンセリング学会誌   41 ( 4 )   240 - 242   2021.2

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    令和2年度4月、鳥取大学医学部専攻博士前期課程は学会での認定を受け高度臨床実践者(認定遺伝カウンセラー)養成の履修モデルが示され、3名の学生教育を開始しました。中国四国地方においては、2校目になります。鳥取県は比較的新型コロナウイルス感染者が少ない地域ではありますが、開設当初から感染対策のため、Google Meet、Googleクラウドおよびクラウド型教育サービスmanabaなどのオンラインを利用して、リアルタイム学習、オンデマンド学習を用いた遠隔授業などを用いてカリキュラムを実践しています。現在、病院実習を開始したところですが、今後は感染状況に応じてオンライン遺伝カウンセリングならびに実習を検討していく方針です。(著者抄録)

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  • 遺伝子関連検査を知る ACMGガイドライン

    岡崎 哲也, 難波 栄二

    遺伝子医学   10 ( 3 )   101 - 105   2020.7

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    膨大なゲノム情報から,疾患の診断や治療に必要な情報のみを抽出することはゲノム医療には重要な課題になっている。2015年に米国の臨床遺伝・ゲノム学会(American College of Medical Genetics and Genomics:ACMG)および米国分子病理学会(Association for Molecular Pathology:AMP)においてガイドライン(ACMGガイドライン)が策定された。日本においても,このACMGガイドラインを参考にゲノム情報の解釈を行うことが多い。本稿では,このACMGガイドラインを解説し,その後の取り組みなどについても紹介する。今後,日本においても,同様のゲノム医療に貢献するガイドラインを発出してゆくことが望まれる。(著者抄録)

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  • デュシェンヌ型筋ジストロフィーの遺伝カウンセリング 保因者診断の対応

    松浦 香里, 岡崎 哲也, 笠城 典子, 難波 栄二, 前垣 義弘

    日本遺伝カウンセリング学会誌   40 ( 2 )   138 - 138   2019.7

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  • 【指定難病ペディア2019】個別の指定難病 染色体・遺伝子関連 脆弱X症候群関連疾患[指定難病205]

    岡崎 哲也, 難波 栄二

    日本医師会雑誌   148 ( 特別1 )   S316 - S316   2019.6

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  • 【指定難病ペディア2019】個別の指定難病 染色体・遺伝子関連 脆弱X症候群[指定難病206]

    岡崎 哲也, 難波 栄二

    日本医師会雑誌   148 ( 特別1 )   S309 - S310   2019.6

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  • 多彩な神経症状の経過の中で食道アカラシアを発症し、Allgrove syndromeを疑う15歳女児例

    渡辺 圭介, 山田 博之, 岡崎 哲也, 西村 洋子, 斎藤 義朗, 前垣 義弘, 戸川 雅美

    脳と発達   51 ( Suppl. )   S404 - S404   2019.5

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  • 【小児疾患の診断治療基準】(第2部)疾患 染色体異常・先天性奇形 脆弱X症候群

    岡崎 哲也, 難波 栄二

    小児内科   50 ( 増刊 )   146 - 147   2018.11

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  • 当科における辺縁系脳炎について

    中村 裕子, 大野 光洋, 大前 登典, 松村 渉, 蔵田 洋文, 板倉 文子, 岡崎 哲也, 成田 綾, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘

    日本小児科学会雑誌   120 ( 4 )   792 - 792   2016.4

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  • 新生児ヘルペス脳炎の2例

    大野 光洋, 大前 登典, 松村 渉, 板倉 文子, 藏田 洋文, 岡崎 哲也, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘

    日本小児科学会雑誌   120 ( 1 )   107 - 107   2016.1

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  • 【Tumor syndromes】[第7章]その他の疾患 伊藤白斑

    岡崎 哲也, 前垣 義弘

    臨床画像   31 ( 10月増刊 )   227 - 227   2015.10

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  • 脳静脈奇形の2例

    大野 光洋, 斎藤 義朗, 上田 理誉, 岡崎 哲也, 杉原 進, 西村 洋子, 玉崎 章子, 前垣 義弘

    日本小児科学会雑誌   119 ( 9 )   1402 - 1402   2015.9

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  • 腹痛嘔吐症状が持続する自己免疫性自律神経節障害の12歳女児例

    岡崎 哲也, 西村 洋子, 上田 理誉, 杉原 進, 大野 光洋, 成田 綾, 玉崎 章子, 斎藤 義朗, 前垣 義弘, 中根 俊成, 樋口 理

    脳と発達   47 ( Suppl. )   S407 - S407   2015.5

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  • 幼児期より遷延する高CK血症と軽微な体幹屈筋の筋力低下により診断に至った小児型ポンペ病の1例

    成田 綾, 杉原 進, 上田 理誉, 岡崎 哲也, 大野 光洋, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘, 難波 栄二, 石毛 崇, 乾 あやの

    日本小児科学会雑誌   118 ( 9 )   1427 - 1427   2014.9

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  • 肺炎球菌感染を契機に血球貪食症候群を発症した慢性皮膚粘膜カンジダ症の1例

    尾崎優介, 竹田幸代, 岡崎哲也, 早川潤, 山西慎吾, 植田高弘, 今井丈英, 高瀬眞人, 前田美穂, 伊藤保彦

    日本小児科学会雑誌   117 ( 2 )   448 - 448   2013.2

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  • 精神運動発達退行と舞踏アテトーゼを呈する3歳男児

    岡崎 哲也

    脳と発達   43 ( 5 )   343 - 344   2011.9

  • ceftriaxone投与に伴う偽胆石症を来した低酸素性虚血性脳症後遺症の一例

    岡崎 哲也, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 中川 栄二, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌   36 ( 2 )   344 - 344   2011.8

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  • バイトブロックが噛み切られた1例

    福本 裕, 榎園 崇, 丸山 慎介, 岡崎 哲也, 遠藤 ゆかり, 齋藤 貴志, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌   36 ( 2 )   334 - 334   2011.8

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  • 亜急性硬化性全脳炎のNIRSを用いた治療評価の検討

    比屋根 真彦, 中川 栄二, 榎園 崇, 岡崎 哲也, 福村 忍, 眞柄 慎一, 斎藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌   36 ( 2 )   343 - 343   2011.8

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  • 【頭蓋内腫瘤性病変の画像診断】トルコ鞍、傍鞍部

    岡崎 哲也, 登坂 雅彦, 佐藤 典子

    臨床放射線   56 ( 5 )   581 - 590   2011.5

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Presentations

  • 6q16.1欠失による発達遅滞を呈した一例

    岡崎 哲也, 川口 達也, 佐伯 有祐, 青木 智彩子, 笠城 典子, 足立 香織, 才田 謙, 松本 直通, 難波 栄二, 前垣 義弘

    脳と発達  2022.5  (一社)日本小児神経学会

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  • 「脆弱X症候群ならびに脆弱X症候群関連疾患のレジストリ」の現状

    岡崎 哲也, 足立 香織, 難波 栄二

    脳と発達  2022.5  (一社)日本小児神経学会

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  • 新規DYRK1A遺伝子バリアントが同定されたてんかん、知的障害を有する1例

    岡崎 哲也, 山田 博之, 松浦 香里, 笠城 典子, 三宅 典子, 松本 直通, 足立 香織, 難波 栄二, 前垣 義弘

    脳と発達  2021.5  (一社)日本小児神経学会

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  • アジア人において、FKRP遺伝子変異は先天性筋ジストロフィー1Cと肢帯型筋ジストロフィー2Iを発症する

    粟野 宏之, 斎藤 良彦, 志水 麻実子, 関口 兼司, 新島 新一, 松尾 雅文, 前垣 義弘, 泉 維昌, 菊池 知耶, 石橋 正人, 岡崎 哲也, 小牧 宏文, 飯島 一誠, 西野 一三

    脳と発達  2021.5  (一社)日本小児神経学会

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  • COL4A1遺伝子変異をもつ3症例の長期的経過のまとめ

    中村 裕子, 岡崎 哲也, 山田 博之, 岡西 徹, 前垣 義弘

    脳と発達  2020.11  (一社)日本小児神経学会

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  • 家族性腫瘍(遺伝性腫瘍)における脳腫瘍 頭蓋内血管芽腫における蓄積した遺伝子変異による病因・病型の推定および予後予測-VHL合併例と散発例

    仲山 美名子, 難波 栄二, 岡崎 哲也, 足立 香織, 甲斐 政親, 黒崎 雅道

    Brain Tumor Pathology  2020.8  日本脳腫瘍病理学会

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  • 日本人脆弱X症候群症例の臨床的特徴

    岡崎 哲也, 松浦 香里, 大山 宜孝, 荻野 裕, 野瀬 まどか, 白幡 恵美, 阿部 敏明, 長谷川 毅, 毎原 敏郎, 前垣 義弘, 足立 香織, 難波 栄二

    脳と発達  2020.8  (一社)日本小児神経学会

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  • 全般性強直間代発作を契機に診断されたEpilepsy with eyelid myocloniasの1例

    太田 健人, 岡崎 哲也, 田辺 仁彦, 西村 洋子, 前垣 義弘

    日本小児科学会雑誌  2020.8  (公社)日本小児科学会

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  • Epileptic spasms without hypsarrhythmiaを発症したinv-dup(15)症候群の1例

    宮本 洋輔, 渡辺 圭介, 山田 博之, 岡崎 哲也, 西村 洋子, 原田 晋二, 上田 善之, 前垣 義弘

    日本小児科学会雑誌  2020.8  (公社)日本小児科学会

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  • Li-Fraumeni症候群の発症前診断の遺伝カウンセリング

    松浦 香里, 岡崎 哲也, 笠城 典子, 難波 栄二, 金子 周平, 中川 奈保子, 前垣 義弘

    日本遺伝カウンセリング学会誌  2020.6  日本遺伝カウンセリング学会

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  • 鳥取大学医学部附属病院における難病領域の遺伝学的検査および遺伝カウンセリング加算に対応した診療体制の整備

    松浦 香里, 岡崎 哲也, 笠城 典子, 難波 栄二, 前垣 義弘

    日本遺伝カウンセリング学会誌  2020.6  日本遺伝カウンセリング学会

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  • 島根県隠岐の島町における網膜色素変性症例の特徴

    大松 寛, 松浦 一貴, 寺坂 祐樹, 佐々木 勇二, 宮崎 大, 井上 幸次, 岡崎 哲也, 平岡 弓枝, 難波 栄二, 坂口 智博, 三宅 紀子, 松本 直通

    眼科臨床紀要  2019.12  眼科臨床紀要会

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  • 精神発達遅延を併発した網膜色素変性症例の全エクソーム解析

    大松 寛, 宮崎 大, 井上 幸次, 松浦 一貴, 岡崎 哲也, 平岡 弓枝, 難波 栄二, 坂口 智博, 三宅 紀子, 松本 直通

    眼科臨床紀要  2019.11  眼科臨床紀要会

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  • デュシェンヌ型筋ジストロフィーの遺伝カウンセリング 保因者診断の対応

    松浦 香里, 岡崎 哲也, 笠城 典子, 難波 栄二, 前垣 義弘

    日本遺伝カウンセリング学会誌  2019.7  日本遺伝カウンセリング学会

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  • 脆弱X症候群・脆弱X症候群関連疾患の診断 保険診療での実施状況

    難波 栄二, 足立 香織, 岡崎 哲也, 井上 知愛, 田所 健一

    脳と発達  2019.5  (一社)日本小児神経学会

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  • 多彩な神経症状の経過の中で食道アカラシアを発症し、Allgrove syndromeを疑う15歳女児例

    渡辺 圭介, 山田 博之, 岡崎 哲也, 西村 洋子, 斎藤 義朗, 前垣 義弘, 戸川 雅美

    脳と発達  2019.5  (一社)日本小児神経学会

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  • 片麻痺性片頭痛における頭部MRI所見の変化

    渡辺 圭介, 林田 拓也, 岡崎 哲也, 西村 洋子, 斎藤 義朗, 前垣 義弘

    脳と発達  2018.11  (一社)日本小児神経学会

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  • 結節性硬化症データを用いた小児慢性特定疾病対策登録データの有用性の検討

    岡崎 哲也, 粟屋 智就, 林 雅晴, 小牧 宏文, 盛一 享徳, 掛江 直子

    脳と発達  2018.5 

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  • FOXP1を含む3p13領域の微細欠失を示した4症例における遺伝子型表現型相関解析

    山本 圭子, 下島, 松村 渉, 岡崎 哲也, 前垣 義弘, 岡本 伸彦, 山本 俊至

    脳と発達  2018.5 

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  • 脆弱X症候群ならびに脆弱X症候群関連疾患の治療推進に向けた臨床基盤整備

    足立 香織, 岡崎 哲也, 松浦 徹, 石井 一弘, 後藤 雄一, 難波 栄二

    脳と発達  2018.5 

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  • ビタミンB6が著効したWest症候群の一例

    西村 洋子, 板倉 文子, 岡崎 哲也, 斎藤 義朗, 秋山 倫之, 前垣 義弘

    てんかん研究  2017.9 

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  • 小児慢性特定疾患治療研究事業登録データを用いた稀少疾患の疫学研究の試み 福山型先天性筋ジストロフィーの例

    粟屋 智就, 岡崎 哲也, 林 雅晴, 小牧 宏文, 盛一 享徳, 掛江 直子, 日本小児神経学会小慢, 指定難病に関する委員会

    脳と発達  2017.5 

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  • 鳥取大学医学部附属病院遺伝子診療科の8年間の実績と今後の課題

    平岡 弓枝, 笠城 典子, 岡崎 哲也, 前垣 義弘, 難波 栄二

    日本遺伝カウンセリング学会誌  2017.5 

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  • Eyelid myoclonia with absences-like epileptic syndrome in a child with SYNGAP1 gene mutation

    Tetsuya OKAZAKI, Yoshiaki SAITO, Rika HIRAIWA, Masachika KAI, Kaori ADACHI, Yoko NISHIMURA, Eiji NANBA, Yoshihiro MAEGAKI

    AOCCN 2017: 14th Asian and Oceanian Congress of Child Neurology  2017.5 

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  • SPATA5遺伝子異常を認めた同胞例

    藏田 洋文, 松村 渉, 岡崎 哲也, 大野 光洋, 西村 洋子, 足立 香織, 斎藤 義朗, 難波 栄二, 前垣 義弘, 松本 直通, 加藤 光広

    脳と発達  2016.11 

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  • 難治性てんかん性無呼吸発作を呈した軟骨低形成症の2歳女児例

    岡崎 哲也, 上田 理誉, 西村 洋子, 大野 光洋, 玉崎 章子, 中川 奈保子, 笠城 典子, 足立 香織, 甲斐 政親, 佐々木 征行, 難波 栄二, 斎藤 義朗, 前垣 義弘

    脳と発達  2016.5 

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  • Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.

    Okazaki T, Ueda R, Sugihara S, Tamasaki A, Nishimura Y, Ohno K, Maegaki Y

    the 14 th International Child Neurology Congress  2016.5 

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  • 当科における大頭症の検討

    藏田 洋文, 岡崎 哲也, 大野 光洋, 西村 洋子, 斎藤 義朗, 前垣 義弘

    脳と発達  2016.5 

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  • 当科における辺縁系脳炎について

    中村 裕子, 大野 光洋, 大前 登典, 松村 渉, 蔵田 洋文, 板倉 文子, 岡崎 哲也, 成田 綾, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘

    日本小児科学会雑誌  2016.4 

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  • 新生児ヘルペス脳炎の2例

    大野 光洋, 大前 登典, 松村 渉, 板倉 文子, 藏田 洋文, 岡崎 哲也, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘

    日本小児科学会雑誌  2016.1 

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  • 環軸椎脱臼による発作性ジストニアと神経因性膀胱を呈する点状軟骨異形成症の1例 ITBトライアルの効果

    岡崎 哲也, 斎藤 義朗, 上田 理誉, 杉原 進, 玉崎 章子, 西村 洋子, 大野 光洋, 戸川 雅美, 大野 貴子, 堀江 昭好, 本田 正史, 武中 篤, 永島 英樹, 前垣 義弘

    脳と発達  2015.11 

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  • 脳静脈奇形の2例

    大野 光洋, 斎藤 義朗, 上田 理誉, 岡崎 哲也, 杉原 進, 西村 洋子, 玉崎 章子, 前垣 義弘

    日本小児科学会雑誌  2015.9 

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  • 4p-症候群3例におけるてんかんの検討

    板倉 文子, 大野 光洋, 岡崎 哲也, 斎藤 義朗, 西村 洋子, 玉崎 章子, 前垣 義弘

    てんかん研究  2015.9 

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  • 腹痛嘔吐症状が持続する自己免疫性自律神経節障害の12歳女児例

    岡崎 哲也, 西村 洋子, 上田 理誉, 杉原 進, 大野 光洋, 成田 綾, 玉崎 章子, 斎藤 義朗, 前垣 義弘, 中根 俊成, 樋口 理

    脳と発達  2015.5 

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  • 幼児期より遷延する高CK血症と軽微な体幹屈筋の筋力低下により診断に至った小児型ポンペ病の1例

    成田 綾, 杉原 進, 上田 理誉, 岡崎 哲也, 大野 光洋, 西村 洋子, 玉崎 章子, 斎藤 義朗, 前垣 義弘, 難波 栄二, 石毛 崇, 乾 あやの

    日本小児科学会雑誌  2014.9 

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  • 中心・側頭部に棘波をもつ良性小児てんかんにおけるdipole spikesと総発作回数の検討

    岡崎 哲也, 川上 康彦, 藤田 武久, 藤野 修, 伊藤 保彦

    脳と発達  2014.5 

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  • レベチラセタムにより強制正常化をきたしたてんかんの一女児例

    川上 康彦, 岡崎 哲也, 高瀬 真人

    日本小児科学会雑誌  2014.2 

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  • 乳児期早期の診断が有意義であった22番環状染色体の一例

    岡崎 哲也, 上石 晶子, 小沢 浩

    日本重症心身障害学会誌  2013.8 

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  • 肺炎球菌感染を契機に血球貪食症候群を発症した慢性皮膚粘膜カンジダ症の1例

    尾崎 優介, 竹田 幸代, 岡崎 哲也, 早川 潤, 山西 慎吾, 植田 高弘, 今井 丈英, 高瀬 眞人, 前田 美穂, 伊藤 保彦

    日本小児科学会雑誌  2013.2 

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  • 口唇下顎ジストニー様の発作にガバペンチンが有効であった難治性てんかんの一例

    桑原 健太郎, 岡崎 哲也, 高木 篤史, 川上 康彦, 藤田 武久, 高石 康子, 藤野 修

    てんかん研究  2012.9 

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  • 幼児期発症の遠位型ミオパチーの2例

    岡崎 哲也, 小牧 宏文, 石山 昭彦, 鋤柄 小百合, 藤井 克則, 齋藤 貴志, 斎藤 義朗, 中川 栄二, 須貝 研司, 佐々木 征行, 林 由起子, 西野 一三

    脳と発達  2012.5 

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  • Analysis of cerebral blood flow using NIRS in patients with hemimegalencephaly

    Tetsuya Okazaki, Eiji Nakagawa, Akihiko Ishiyama, Shinobu Fukumura, Masato Hiyane, Shinichi Magara, Takashi Saito, Yoshiaki Saito, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Akio Takahashi, Taisuke Otsuki

    American Epilepsy Society (AES) 65th Annual Meeting  2011.12 

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  • てんかん小児に対するDichotic Listening Testは言語優位半球を推定できる

    福村 忍, 中川 栄二, 岡崎 哲也, 比屋根 真彦, 真柄 慎一, 石山 昭彦, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介, 稲垣 真澄

    臨床神経生理学  2011.10 

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  • てんかんの病態生理学の進歩 小児難治性てんかんにおけるNIRSを用いた言語優位半球決定の試み

    福村 忍, 中川 栄二, 真柄 慎一, 岡崎 哲也, 比屋根 真彦, 石山 昭彦, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    臨床神経生理学  2011.10 

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  • 片側巨脳症の術前術後における近赤外線光トポグラフィー変化と脳波の検討

    比屋根 真彦, 中川 栄二, 石山 昭彦, 岡崎 哲也, 福村 忍, 齋藤 貴志, 小牧 宏文, 斎藤 義朗, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    てんかん研究  2011.9 

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  • ceftriaxone投与に伴う偽胆石症を来した低酸素性虚血性脳症後遺症の一例

    岡崎 哲也, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 中川 栄二, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌  2011.8 

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  • 亜急性硬化性全脳炎のNIRSを用いた治療評価の検討

    比屋根 真彦, 中川 栄二, 榎園 崇, 岡崎 哲也, 福村 忍, 眞柄 慎一, 斎藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行

    日本重症心身障害学会誌  2011.8 

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  • 光トポグラフィーを用いた小児てんかん患者における言語優位半球決定

    福村 忍, 中川 栄二, 岡崎 哲也, 比屋根 真彦, 石山 昭彦, 鋤柄 小百合, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    脳と発達  2011.5 

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  • NIRSによる波形解析を用いた片側巨脳症の半球離断術前後の脳血流反応評価

    岡崎 哲也, 中川 栄二, 石山 昭彦, 鋤柄 小百合, 比屋根 真彦, 福村 忍, 齋藤 貴志, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    脳と発達  2011.5 

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  • 明らかな既往歴や臨床症状も無く、学校心臓検診にて偶然に発見された重篤な僧帽弁閉鎖不全症の1男児例

    大久保 隆志, 小川 耕一, 岡崎 哲也

    日本小児科学会雑誌  2011.3 

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  • 驚愕てんかん発作時のNIRSを用いた脳血流変化の検討

    石山 昭彦, 中川 栄二, 相崎 貢一, 鋤柄 小百合, 竹下 絵里, 岡崎 哲也, 比屋根 真彦, 福村 忍, 佐久間 啓, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行

    てんかん研究  2011.1 

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  • 言語優位半球の同定を行った軽度精神遅滞を有する難治てんかん小児例

    本田 涼子, 高橋 章夫, 金子 裕, 開道 貴信, 大槻 泰介, 福村 忍, 比屋根 真彦, 岡崎 哲也, 石山 昭彦, 鋤柄 小百合, 中川 栄二, 須貝 研司, 佐々木 征行, 稲垣 真澄

    臨床神経生理学  2010.10 

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  • 片側巨脳症のNIRSによる手術前後の脳血流動態の検討

    岡崎 哲也, 中川 栄二, 相崎 貢一, 石山 昭彦, 鋤柄 小百合, 比屋根 真彦, 福村 忍, 小牧 宏文, 斉藤 義朗, 須貝 研司, 佐々木 征行, 高橋 章夫, 大槻 泰介

    臨床神経生理学  2010.10 

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  • 小児難治性てんかんの発作時NIRSと発作時脳波・発作時SPECTとの比較検討

    石山 昭彦, 中川 栄二, 岡崎 哲也, 鋤柄 小百合, 相崎 貢一, 竹下 絵里, 比屋根 真彦, 福村 忍, 佐久間 啓, 斎藤 義朗, 小牧 宏文, 須貝 研司, 佐々木 征行

    てんかん研究  2010.9 

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  • バルプロ酸ナトリウム代替薬としてのラモトリギン投与について

    小泉 慎也, 羽鳥 誉之, 藤野 修, 高木 篤史, 桑原 健太郎, 高石 康子, 岡田 一芳, 藤松 真理子, 藤田 武久, 川上 康彦, 宮武 千晴, 岡崎 哲也

    てんかん研究  2009.9 

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  • 腹部腫瘤で発見された急性リンパ性白血病の一例

    柳原 剛, 岡崎 哲也, 塩田 曜子, 黒田 奈緒, 森 鉄也, 勝部 康裕, 福永 慶隆

    日本小児科学会雑誌  2009.2 

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  • 出生時より嗄声を認めた若年型喉頭乳頭腫の一例

    岡崎 哲也, 山西 慎吾, 三枝 英人, 植田 高弘, 前田 美穂, 福永 慶隆

    日本小児科学会雑誌  2008.2 

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Research Projects

  • Research to develop support methods for patients and families after diagnosis of rare genetic disorders, focusing on "rarity" and "heredity

    Grant number:23K09548  2023.04 - 2026.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

    岡崎 哲也, 足立香織, 笠城典子, 前垣義弘

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    Grant amount:\4290000 ( Direct expense: \3300000 、 Indirect expense:\990000 )

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  • がんゲノム医療での遺伝性腫瘍診断目的による患者・家族への医療者間連携に関する研究

    Grant number:22K10840  2022.04 - 2025.03

    日本学術振興会  科学研究費助成事業 基盤研究(C)  基盤研究(C)

    笠城 典子, 鈴木 康江, 前垣 義弘, 岡崎 哲也

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    Grant amount:\4160000 ( Direct expense: \3200000 、 Indirect expense:\960000 )

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  • Development of a new genetic testing by clinical natural language processing and comprehensive gene analysis

    Grant number:20K07313  2020.04 - 2023.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    難波 栄二, 岡崎 哲也, 足立 香織

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    Grant amount:\4290000 ( Direct expense: \3300000 、 Indirect expense:\990000 )

    本研究は臨床自然言語処理(CNLP)と次世代シークエンサー(NGS)を用いて高い精度で自動的に診断できるアルゴリズム(システム)の医療実装を目的としている。初年度は、CNLPを用いた臨床データの検討のために症例報告例を集めた。神経疾患の一つである歯状核赤核淡蒼球ルイ体萎縮症の模擬患者カルテの作成行い、CNLPを抽出のためのHuman Phenotype Ontologyを用いたアルゴリズム検討を行った。また、CLIPアルゴリズムのいくつかの特性分析を行った。さらに、NGSデータと臨床データから迅速に代謝性疾患などの診断を行うことのできる最新の研究情報を収集した。一方、2021年10月には、NGSと並んで網羅的に遺伝学的検査を実施できるマイクロアレイ染色体検査が保険収載された。本技術の医療実装においては、その解釈に専門的な知識と経験が必要であり、広くこの技術を臨床に広げてゆくためにはNGSと同様に自動診断のシステムが必要である。本研究課題はNGSを用いた自動診断を目的としているが、マイクロアレイ染色体検査の自動診断にも応用が可能と考えられる。そのために、2年目はマイクロアレイ染色体検査の自動診断システム構築も含めた検討を開始した。最終年度には、模擬患者データのみならず実際のマイクロアレイ染色体検査のデータも用いた研究を実施し、臨床現場において役立つシステムの開発を行う予定である。現在、国では全ゲノム解析実行計画が進んでおり、全ゲノム解析の臨床実装(実用化)が重要な課題となっている。今後、マイクロアレイ染色体検査や全ゲノム解析の自動診断に応用できる成果を挙げられるように研究を加速してゆく予定である。本研究成果により遺伝性疾患の診断が効率的に実施できるようになり、ゲノム医療の実装に大きく貢献する。

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  • Research and development of therapeutic methods for Fukuyama congenital muscular dystrophy focusing on central nervous system dysfunction

    Grant number:19K08346  2019.04 - 2022.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    Okazaki Tetsuya

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    Grant amount:\4290000 ( Direct expense: \3300000 、 Indirect expense:\990000 )

    Central nervous system symptoms are known for Fukuyama congenital muscular dystrophy (FCMD). It is considered that the muscle tissue of FCMD model mice has a dysfunction of mTOR pathway, and there is a research report that administration of an mTOR inhibitor showed histological improvement of the muscle. It is possible that mTOR pathway dysfunction are also involved in FCMD central nervous system disorders, and the purpose of this study was to elucidate the involvement of mTOR pathway abnormalities in central nervous system and to link them to the development of therapeutic methods. We tried to elucidate the FKTN gene of SH-SY5Y cells by knocking it down with siRNA, but we could not demonstrate it by any method other than immunostaining. In addition to the possibility that there are no abnormalities in the central nervous system, problems with experimental subjects such as model cells were also raised as issues.

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  • 遺伝性腫瘍の家系員発症予防のための医療者間連携による効果的な家族支援に関する研究

    Grant number:18K10271  2018.04 - 2021.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    笠城 典子, 鈴木 康江, 難波 栄二, 岡崎 哲也

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    Grant amount:\4420000 ( Direct expense: \3400000 、 Indirect expense:\1020000 )

    遺伝性腫瘍症候群に罹患した患者・家族は「がん」と「遺伝」の両方の精神的苦痛、身体的な負荷、経済的な問題などが生じてくる。患者・家族の考え方、価値観、家族への思いは多様で、ゲノム情報が血縁者の発症予防、早期発見・早期治療につながらない可能性があり、遺伝専門職が少ない地域においては、遺伝子診療部門と各医療施設が連携して、長期的に患者・家族支援を行う必要がある。本研究は、山陰地域における遺伝性腫瘍に関する看護職の認識および患者・家族への対応を明らかにし、クライエントの患者や家族に対する思いを考慮した遺伝性腫瘍症候群の家系員発症予防のための医療者間連携による効果的な家族支援を明らかにすることを目的としている。
    本年度はコンパニオン診断および遺伝性腫瘍症候群を含むゲノム医療・遺伝医療に関連して受診したクライエント・家族を対象に、受診までの経過、準備状況等の情報収集および遺伝カウンセリングで提供された情報の理解、家族への思い・説明、満足感等について質問紙調査を実施する。さらに遺伝学的検査を受け、診断結果説明された対象者に対して、検査についての思い、期待、結果についての思い、結果による治療薬選択への影響について、家族への思い等を明らかにするために質問紙調査を実施するために、鳥取大学医学部倫理審査委員会への倫理審査申請準備中である。
    家族への思い、クライエント支援について検討するために、X連鎖潜性(劣性)遺伝を示す遺伝性筋疾患家系の保因者リスクをもつクライエントの保因者検査実施の自己決定および検査後の心理的支援について考察し、学会発表を行った。

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  • Construction of an effective cooperation between health professionals by providing information to contribute to hereditary tumor prophylaxis

    Grant number:26463341  2014.04 - 2018.03

    Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research Grant-in-Aid for Scientific Research (C)  Grant-in-Aid for Scientific Research (C)

    KASAGI Noriko

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    Grant amount:\4940000 ( Direct expense: \3800000 、 Indirect expense:\1140000 )

    The development of molecular genetics has made the molecular genetic test and diagnosis of hereditary neoplastic syndromes possible. In this study, we investigated the effect that genetic counseling had on clients during their consultation. We then conducted a fact-finding survey to understand hereditary neoplastic syndrome in the general nurses of the San-in district. As for the genetic counseling itself, it was suggested that it was useful psychologically, and helped the client understand their genetic disease. Nurses in the San-in district felt it was difficult to care for people with hereditary neoplastic syndrome. Therefore, it is important to educate nurses about hereditary neoplastic syndrome, and it is necessary to build a system of cooperation between health professionals to offer appropriate support.

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