Updated on 2025/01/28

Information

 

写真a

 
TOCAN VLAD
 
Organization
Kyushu University Hospital Pediatrics Assistant Professor
Title
Assistant Professor
Profile
Areas of expertise: pediatric endocrinology, inherited metabolic disorders, genetic disorders
Homepage

Degree

  • Master of Human and Environmental Studies (Kyoto University)

  • Ph.D. in Medicine (Kyushu University)

Research Interests・Research Keywords

  • Research theme:Inherited metabolic disorders

    Keyword:Inherited metabolic disorders

    Research period: 2015.4

  • Research theme:Pediatric endocrine diseases

    Keyword:Pediatric endocrinology

    Research period: 2015.4

Papers

  • High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome Reviewed International journal

    Tocan, V; Nakamura-Utsunomiya, A; Sonoda, Y; Matsuoka, W; Mizuguchi, S; Muto, Y; Hijioka, T; Nogami, M; Sasaoka, D; Nagamatsu, F; Oba, U; Kawakubo, N; Hamada, H; Mushimoto, Y; Chong, PF; Kaku, N; Koga, Y; Sakai, Y; Oda, Y; Tajiri, T; Ohga, S

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES   25 ( 5 )   2024.3   ISSN:1661-6596 eISSN:1422-0067

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    Authorship:Lead author   Language:English   Publishing type:Research paper (scientific journal)   Publisher:International Journal of Molecular Sciences  

    Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorder characterized by rapid-onset obesity associated with hypoventilation, neural crest tumors, and endocrine and behavioral abnormalities. The etiology of ROHHAD syndrome remains to be established, but recent research has been focusing on autoimmunity. We report on a 2-year-old girl with rapid-onset obesity during the first year of life who progressed to hypoventilation and encephalitis in less than four months since the start of accelerated weight gain. The patient had a high titer of anti-ZSCAN1 antibodies (348; reference range < 40), and the increased values did not decline after acute phase treatment. Other encephalitis-related antibodies, such as the anti-NDMA antibody, were not detected. The rapid progression from obesity onset to central hypoventilation with encephalitis warns about the severe consequences of early-onset ROHHAD syndrome. These data indicate that serial measurements of anti-ZSCAN1 antibodies might be useful for the diagnosis and estimation of disease severity. Further research is needed to determine whether it can predict the clinical course of ROHHAD syndrome and whether there is any difference in antibody production between patients with and without tumors.

    DOI: 10.3390/ijms25052820

    Web of Science

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  • Hepatocyte polarity establishment and apical lumen formation are organized by Par3, Cdc42, and aPKC in conjunction with Lgl Reviewed International journal

    @Vlad Tocan, @Junya Hayase, @Sachiko Kamakura, @Akira Kohda, @Shouichi Ohga, @Motoyuki Kohjima, @Hideki Sumimoto

    JOURNAL OF BIOLOGICAL CHEMISTRY   297 ( 6 )   2021.12

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

    DOI: 10.1016/j.jbc.2021.101354

  • Reappraising newborn screening for cobalamin C disorder Reviewed International journal

    @Vlad Tocan, @Kazuhiro Ohkubo, @Kanako Higashi, @Naoko Toda, @Kanako Kojima-Ishii, @Kei Nishiyama, @Masataka Ishimura, @Hidetoshi Takada, @Osamu Sakamoto, @Fusako Sasaki, @Kazuko Yoshimura, @Shinichi Hirose, @Shouichi Ohga

    PEDIATRICS AND NEONATOLOGY   59 ( 4 )   415 - 417   2018.8

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

    DOI: 10.1016/j.pedneo.2017.11.002

  • Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review Reviewed International journal

    Higashi, K; Sonoda, Y; Kaku, N; Fujii, F; Yamashita, F; Lee, S; Tocan, V; Ebihara, G; Matsuoka, W; Tetsuhara, K; Sonoda, M; Chong, PF; Mushimoto, Y; Kojima-Ishii, K; Ishimura, M; Koga, Y; Fukuta, A; Tsuchihashi, NA; Kikuchi, Y; Karashima, T; Sawada, T; Hotta, T; Yoshimitsu, M; Terazono, H; Tajiri, T; Nakagawa, T; Sakai, Y; Nakamura, K; Ohga, S

    MOLECULAR GENETICS & GENOMIC MEDICINE   12 ( 4 )   e2427   2024.4   ISSN:2324-9269

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    Language:English   Publishing type:Research paper (scientific journal)   Publisher:Molecular Genetics and Genomic Medicine  

    Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, β-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has been administered as an alternative treatment for a group of patients with nGD. However, little is known about the clinical indication and the long-term outcome of patients after ambroxol therapy. We herein report a case of a female patient who presented with a progressive disease of GD type 2 from 11 months of age and had the pathogenic variants of p.L483P (formerly defined as p.L444P) and p.R502H (p.R463H) in GBA1. A combined treatment of imiglucerase with ambroxol started improving the patient's motor activity in 1 week, while it kept the long-lasting effect of preventing the deteriorating phenotype for 30 months. A literature review identified 40 patients with nGD, who had received high-dose ambroxol therapy. More than 65% of these patients favorably responded to the molecular chaperone therapy, irrespective of p.L483P homozygous, heterozygous or the other genotypes. These results highlight the long-lasting effect of ambroxol-based chaperone therapy for patients with an expanding spectrum of mutations in GBA1.

    DOI: 10.1002/mgg3.2427

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  • Translational medicine of bioethics and child neurology : A short essay Reviewed

    Sasazuki Momoko, Tocan Vlad, Sakai Yasunari, Kira Ryutaro, Ohga Shouichi

    NO TO HATTATSU   56 ( 1 )   5 - 8   2024   ISSN:00290831 eISSN:18847668

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    Language:Japanese   Publishing type:Research paper (scientific journal)   Publisher:The Japanese Society of Child Neurology  

    <p>  Recent progress in genetic analysis and therapeutics provide patients and families with a hope for the cure of intractable diseases. The current age also enforces pediatricians to think over the complex and diverse decision-making processes and therapeutic options for each patient. Presumably, this situation will become more complex within the range of legal and ethical consensus for therapeutic options that pediatricians must consider as advocates for ill children. We cannot simplify or streamline the process for how they support the interests of children and what they should protect. When standing at the critical point of decision-making for a life-threatening condition, pediatricians need to develop agreement with their patients and families through persistent discussions without setting up a goal for agreement among them. Thus, translational research in pediatrics may represent the search for essence deeply embedded in bioethics, which may possibly lead us to untangling the conundrums in clinical practice.</p>

    DOI: 10.11251/ojjscn.56.5

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    CiNii Research

  • Long-lasting pain and somatosensory disturbances in children with myelin oligodendrocyte glycoprotein antibody-associated disease: A single-institute study Reviewed International journal

    @Yuko Ichimiya, @Pin Fee Chong, @Yuri Sonoda, @Vlad Tocan, @Mitsuru Watanabe, @Hiroyuki Torisu, @Ryutaro Kira, @Toshiyuki Takahashi, @Jun-Ichi Kira, @Noriko Isobe, @Yasunari Sakai, @Shouichi Ohga

    European Journal of Pediatrics   182 ( 7 )   3175 - 3185   2023.4   ISSN:0340-6199 eISSN:1432-1076

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

    DOI: 10.1007/s00431-023-04989-z

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  • The earliest enzyme replacement for infantile-onset Pompe disease in Japan Invited Reviewed International journal

    PEDIATRICS INTERNATIONAL   64 ( 1 )   2022.1

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

    DOI: 10.1111/ped.15286

  • Physical growth and neurodevelopment during the first year of life: a cohort study of the Japan Environment and Children's Study Reviewed International journal

    BMC PEDIATRICS   21 ( 1 )   2021.8

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

    DOI: 10.1186/s12887-021-02815-9

  • The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S Reviewed International journal

    @Kurokawa M, @Torio M, @Ohkubo K, @Tocan V, @Ohyama N, @Toda N, @Ishii K, @Nishiyama K, @Mushimoto Y, @Sakamoto R, @Nakaza M, @Horie R, @Kubota T, @Takahashi MP, @Sakai Y, @Nomura M, @Ohga S.

    MOLECULAR GENETICS & GENOMIC MEDICINE   8 ( 4 )   2020.4

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

    DOI: 10.1002/mgg3.1175

  • Malignant Transformation of Phosphaturic Mesenchymal Tumor: A Case Report and Literature Review. Invited Reviewed International journal

    @Oyama N, @Kojima-Ishii K, @Toda N, @Matsuo T, @Tocan V, @Ohkubo K, @Oba U, @Koga Y, @Setsu N, @Yamada Y, @Kohashi K, @Nakashima Y, @Oda Y, @Ihara K, @Ohga S.

    Clin Pediatr Endocrinol.   29 ( 2 )   69 - 75   2020.4

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

    DOI: 10.1297/cpe.29.69

  • Metabolic and immunological assessment of small-for-gestational-age children during one-year treatment with growth hormone: the clinical impact of apolipoproteins Reviewed International journal

    @Kojima-Ishii K, @Toda N, @Okubo K, @Tocan V, @Ohyama N, @Makimura M, @Matsuo T, @Ochiai M, @Ohga S, @Ihara K

    Endocrine Journal   65 ( 4 )   449 - 459   2018.4

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

    DOI: 10.1507/endocrj.EJ17-0485

  • Severe Hemolytic Anemia Following Intravenous Immunoglobulin in an Infant With Kawasaki Disease Invited Reviewed International journal

    @Vlad Tocan, @Akari Inaba, @Tamami Kurano, @Motoshi Sonoda, @Keiji Soebijanto, @Hideki Nakayama

    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY   39 ( 2 )   E100 - E102   2017.3

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

    DOI: 10.1097/MPH.0000000000000704

  • Is Metastatic Rhabdomyosarcoma an Indication for Cardioverter Defibrillator Implantation? Reviewed International journal

    @Vlad Tocan, @Yuhki Koga, @Hiroaki Ono, @Kentaro Nakashima, @Eiko Terashi, @Eiji Morihana, @Kenichiro Yamamura, @Takafumi Sakamoto, @Hidetoshi Takada

    Pediatric Blood and Cancer   63 ( 8 )   1501 - 1502   2016.8

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

    DOI: 10.1002/pbc.26004.

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Presentations

  • Diagnosing uncertainty: suspected VLCAD deficiency in an infant with two ACADVL variants of uncertain significance

    @Vlad Tocan, @Taro Shimamoto, @Yuichi Mushimoto, @Nozomi Abe, @Kanako Kojima-Ishii, @Shouichi Ohga

    2022.12 

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    Event date: 2022.12

    Language:English   Presentation type:Oral presentation (general)  

    Country:Japan  

  • Suspected VLCAD deficiency in an infant with two ACADVL variants of uncertain significance

    2022.11 

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    Event date: 2022.11

    Language:English   Presentation type:Oral presentation (general)  

    Country:Japan  

  • シャペロン療法の早期導入が神経症状に有効であったゴーシェ病2型の1歳児例

    @トカン ヴラッド、@中尾泰介、@園田有里、@虫本雄一、@戸田尚子、@石井加奈子、@澤田 貴彰、@中村公俊、@大賀正一

    第62回日本先天代謝異常学会学術集会  2021.11 

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    Event date: 2021.11

    Language:Japanese  

    Venue:ハイブリッド開催   Country:Japan  

  • Central precocious puberty in a boy with pseudohypoparathyroidism type 1B

    @Vlad Tocan, @Yuichi Mushimoto, @Kanako Kojima-Ishii, @Naoko Toda, @Shouichi Ohga

    2021.10 

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    Event date: 2021.10 - 2022.10

    Language:Japanese   Presentation type:Oral presentation (general)  

    Country:Japan  

  • 拡張型心筋症に対する補助人工心臓留置後の代謝発作から診断されたプロピオン酸血症の18歳男性

    @島本太郎、@石井加奈子、@トカン ヴラッド、@安部希、@虫本雄一、@鳥尾倫子、@藤野剛雄、@大賀正一

    第63回日本先天代謝異常学会学術集会  2023.11 

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    Event date: 2023.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:熊本   Country:Japan  

  • 乳児期から高血圧を呈し、10歳時にKCNJ5変異が同定された家族性原発性アルドステロン症Ⅲ型の女児例

    @牟田龍史、@石井加奈子、@安部希、@トカン ヴラッド、@虫本雄一、@長友雄作、@大野拓郎、@内田登、@長谷川奉延、@大賀正一

    第55回日本小児内分泌学会学術集会  2022.11 

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    Event date: 2022.11

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:横浜   Country:Japan  

  • 心不全から診断されたプロピオン酸血症の18歳男性

    @安部希、@石井加奈子、@トカン ヴラッド、@虫本雄一

    第7回女性医師による九州先天代謝異常ネットワークミーティング  2022.10 

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    Event date: 2022.10

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:福岡   Country:Japan  

  • 心不全から診断されたプロピオン酸血症の18歳男性

    @島本太郎、@石井加奈子、@トカン ヴラッド、@安部希、@虫本雄一、@鳥尾倫子、@藤野剛雄、@大賀正一

    第518回日本小児科学会福岡地方会  2022.9 

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    Event date: 2022.9

    Language:Japanese   Presentation type:Oral presentation (general)  

    Country:Japan  

  • 生後9か月時に胃腸炎関連痙攣を契機に診断された原発性アルドステロン症女児例

    @牟田龍史、@石井加奈子、@戸田尚子、@トカン ヴラッド、@虫本雄一

    第5回日本小児内分泌学会九州・沖縄地方会  2022.2 

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    Event date: 2022.2

    Language:Japanese   Presentation type:Oral presentation (general)  

    Venue:福岡   Country:Japan  

  • Uncertain significanceを有する二つのACADVL遺伝子変異を認める乳児におけるVLCAD欠損疑い(Suspected VLCAD deficiency in an infant with two ACADVL variants of uncertain significance) International conference

    Tocan Vlad, Shimamoto Taro, Mushimoto Yuichi, Abe Nozomi, Kojima-Ishii Kanako, Ohga Shouichi

    日本先天代謝異常学会雑誌  2022.10  (一社)日本先天代謝異常学会

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    Language:English   Presentation type:Oral presentation (general)  

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Professional Memberships

  • The Japan Society of Human Genetics

  • The Japanese Society for Pediatric Endocrinology

  • The Japan Endocrine Society

  • Japan Pediatric Society

  • Japanese Society for Inherited Metabolic Diseases

  • Japanese Society for Clinical Nutrition and Metabolism

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Research Projects

  • ライソゾーム病患者における免疫異常の解析

    2022.4 - 2027.3

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    Authorship:Principal investigator 

Educational Activities

  • I lecture for the second-year students of the Departments of Medicine and Biomedical Studies and supervise students during their basic research (third year), bedside practice (fourth and fifth year), and clinical clerkship (sixth year) programs.

Class subject

  • 遺伝学

    2023.10 - 2024.3   Second semester

  • 臨床医学実習

    2023.4 - 2024.3   Full year

  • 臨床医学基礎実習

    2023.4 - 2023.9   First semester

  • クリニカルクラークシップ

    2023.4 - 2023.9   First semester

Specialized clinical area

  • Biology / Medicine, Dentistry and Pharmacy / Internal Medicine / Pediatrics

Clinician qualification

  • Specialist

    Japan Pediatric Society

Year of medical license acquisition

  • 2012