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  1. Article ; Online: Phenotypic switching to hypereosinophilia during cytoreductive therapy for transient abnormal myelopoiesis associated with Down syndrome.

    Kobayashi, Kenichiro / Watanabe, Asami / Mizuta, Shumpei / Nishida, Yoshinobu / Heike, Toshio

    EJHaem

    2022  Volume 3, Issue 2, Page(s) 543–544

    Language English
    Publishing date 2022-01-24
    Publishing country United States
    Document type Journal Article
    ISSN 2688-6146
    ISSN (online) 2688-6146
    DOI 10.1002/jha2.385
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  2. Article ; Online: Hematological manifestation of scurvy.

    Kobayashi, Kenichiro / Torii, Takashi / Iseri, Satomi / Usami, Ikuya / Toshiro, Maihara / Heike, Toshio

    EJHaem

    2023  Volume 4, Issue 3, Page(s) 852–853

    Language English
    Publishing date 2023-06-26
    Publishing country United States
    Document type Journal Article
    ISSN 2688-6146
    ISSN (online) 2688-6146
    DOI 10.1002/jha2.751
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Chloroquine decreases cardiac fibrosis and improves cardiac function in a mouse model of Duchenne muscular dystrophy.

    Hirata, Takuya / Baba, Shiro / Akagi, Kentaro / Matsuda, Koichi / Umeda, Katsutsugu / Adachi, Souichi / Heike, Toshio / Takita, Junko

    PloS one

    2024  Volume 19, Issue 1, Page(s) e0297083

    Abstract: Background: Duchenne muscular dystrophy (DMD), a severe degenerative skeletal and cardiac muscle disease, has a poor prognosis, and no curative treatments are available. Because decreased autophagy has been reported to contribute to skeletal muscle ... ...

    Abstract Background: Duchenne muscular dystrophy (DMD), a severe degenerative skeletal and cardiac muscle disease, has a poor prognosis, and no curative treatments are available. Because decreased autophagy has been reported to contribute to skeletal muscle degeneration, therapies targeting autophagy are expected to improve skeletal muscle hypofunction. However, the role of this regulatory mechanism has not been evaluated clearly in DMD cardiomyocytes.
    Methods: In this present study, we evaluated myocardial fibrosis and its mechanism in mdx mice, a model of DMD, and also evaluated changes in cardiac function.
    Results: As assessed by LC3 immunohistochemistry, a small number of autophagosomes were detected in cardiomyocytes of both mdx mice and control wild-type (WT) mice. The number of autophagosomes was significantly enhanced by 4 weeks of isoproterenol-induced cardiac stress in cardiomyocytes of mdx but not WT mice. Simultaneously, isoproterenol increased cardiomyocyte fibrosis in mdx but not WT mice. Administration of chloroquine significantly decreased cardiomyocyte fibrosis in mdx mice, even after isoproterenol treatment. Left ventricle size and function were evaluated by echocardiography. Left ventricular contraction was decreased in mdx mice after isoproterenol treatment compared with control mice, which was alleviated by chloroquine administration.
    Conclusions: Heart failure in DMD patients is possibly treated with chloroquine, and the mechanism probably involves chloroquine's anti-inflammatory effects.
    MeSH term(s) Humans ; Mice ; Animals ; Muscular Dystrophy, Duchenne/pathology ; Mice, Inbred mdx ; Isoproterenol/pharmacology ; Cardiomyopathies ; Muscle, Skeletal ; Myocytes, Cardiac/pathology ; Fibrosis ; Disease Models, Animal ; Dystrophin
    Chemical Substances Isoproterenol (L628TT009W) ; Dystrophin
    Language English
    Publishing date 2024-01-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0297083
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  4. Article ; Online: Low-Level Germline 48,XYY,+21 Mosaicism Associated with Transient Abnormal Myelopoiesis in a Phenotypically Normal Neonate.

    Kobayashi, Kenichiro / Iwai, Atsushi / Tanaka, Kuniaki / Mizuta, Shumpei / Yoshida, Saya / Maihara, Toshiro / Nishida, Yoshinobu / Wada, Takahito / Usami, Ikuya / Heike, Toshio

    Cytogenetic and genome research

    2023  Volume 162, Issue 11-12, Page(s) 625–631

    Abstract: Transient abnormal myelopoiesis (TAM) is a unique neonatal leukemoid reaction caused by a pathognomonic GATA1 mutation in conjunction with the gene dosage effect of trisomy 21, which is either of germline or somatic origin. We encountered a 48,XYY,+21 ... ...

    Abstract Transient abnormal myelopoiesis (TAM) is a unique neonatal leukemoid reaction caused by a pathognomonic GATA1 mutation in conjunction with the gene dosage effect of trisomy 21, which is either of germline or somatic origin. We encountered a 48,XYY,+21 phenotypically normal neonate with Down syndrome who developed TAM due to cryptic germline mosaicism. Quantification of the mosaic ratio was complicated by an overestimation bias of hyperproliferating TAM within the germline component. To establish a workflow for such a clinical scenario, we analyzed the cytogenetic findings of neonates with TAM associated with somatic or low-level germline mosaicism. We showed that multistep diagnostic procedures (i.e., paired cytogenetic analyses of peripheral blood specimens in culture with or without phytohemagglutinin; serial cytogenetic studies of more than one tissue, such as the buccal membrane; and complementary DNA-based GATA1 mutation screening) can verify the specificity of cytogenetic testing for phenotypically normal neonates with TAM suspected of mosaicism.
    Language English
    Publishing date 2023-05-27
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2087824-2
    ISSN 1424-859X ; 1424-8581
    ISSN (online) 1424-859X
    ISSN 1424-8581
    DOI 10.1159/000531259
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    Zs.A 512: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

    Hirai, Masahiro / Ikeda, Ayaka / Kato, Takeo / Ikeda, Takahiro / Asada, Kosuke / Hakuno, Yoko / Matsushima, Kanae / Awaya, Tomonari / Okazaki, Shin / Kato, Toshihiro / Heike, Toshio / Hagiwara, Masatoshi / Yamagata, Takanori / Tomiwa, Kiyotaka / Kimura, Ryo

    Journal of autism and developmental disorders

    2024  

    Abstract: Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder.: Methods: Using the sensory profile questionnaire completed by the caregivers, we ... ...

    Abstract Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder.
    Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups.
    Results: The Severity Analysis revealed a significant group difference in Sensory Sensitivity but not in Low Registration, Sensation Seeking, and Sensation Avoiding subscales. Age can modulate the subscale scores differently across groups. For Sensation Seeking, the scores of both groups decreased with development. However, the scores of Sensory Sensitivity decreased with age in the autistic group but not in the WS group. Sensation Avoiding scores increased with development in the WS group but not in the autistic group. No significant developmental changes were observed in Low Registration.
    Conclusion: This study highlights the cross-syndrome similarities and differences in sensory profiles and developmental changes in autistic individuals and individuals with WS.
    Language English
    Publishing date 2024-01-28
    Publishing country United States
    Document type Journal Article
    ZDB-ID 391999-7
    ISSN 1573-3432 ; 0162-3257
    ISSN (online) 1573-3432
    ISSN 0162-3257
    DOI 10.1007/s10803-023-06205-1
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    Zs.A 765: Show issues Location:
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  6. Article: Application of patients - derived iPS cells for intractable musculoskeletal diseases.

    Toguchida, Junya / Yokoyama, Koji / Ikeya, Makoto / Heike, Toshio

    Nihon rinsho. Japanese journal of clinical medicine

    2018  Volume 73 Suppl 5, Page(s) 416–422

    MeSH term(s) Humans ; Induced Pluripotent Stem Cells ; Musculoskeletal Diseases/therapy ; Stem Cell Transplantation
    Language Japanese
    Publishing date 2018-11-19
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390903-7
    ISSN 0047-1852
    ISSN 0047-1852
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 429: Show issues Location:
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  7. Article ; Online: Cell-free DNA Oncogene Copy Number as a Surrogate Molecular Biomarker in ALK/MYCN-coamplified Neuroblastoma.

    Kobayashi, Kenichiro / Mizuta, Shumpei / Yamane, Noriko / Hamabata, Takayuki / Maihara, Toshiro / Usami, Ikuya / Heike, Toshio

    Journal of pediatric hematology/oncology

    2020  Volume 43, Issue 2, Page(s) e165–e168

    Abstract: Secondary expansion and/or evolution of aggressive subclones are associated with the disease progression and resistance to chemotherapy in neuroblastoma, and it is important to track the clonal changes during the treatment period. Cell-free (cf) DNA ... ...

    Abstract Secondary expansion and/or evolution of aggressive subclones are associated with the disease progression and resistance to chemotherapy in neuroblastoma, and it is important to track the clonal changes during the treatment period. Cell-free (cf) DNA analysis, namely liquid biopsy, can detect the genomic change of tumor cells without surgical procedures. In this report, we showed that serial polymerase chain reaction-based cf DNA neuroblastoma proto-oncogene quantification is sensitive enough to evaluate the aggressive cellular characteristics of ALK/MYCN-coamplified neuroblastoma and stressed the promise of cf DNA analyses as a reliable molecular marker in advanced neuroblastoma.
    MeSH term(s) Anaplastic Lymphoma Kinase/genetics ; Biomarkers, Tumor/genetics ; Cell-Free Nucleic Acids/analysis ; Cell-Free Nucleic Acids/genetics ; DNA Copy Number Variations ; Gene Amplification ; Humans ; Infant ; Male ; N-Myc Proto-Oncogene Protein/genetics ; Neuroblastoma/diagnosis ; Neuroblastoma/genetics ; Prognosis
    Chemical Substances Biomarkers, Tumor ; Cell-Free Nucleic Acids ; MYCN protein, human ; N-Myc Proto-Oncogene Protein ; ALK protein, human (EC 2.7.10.1) ; Anaplastic Lymphoma Kinase (EC 2.7.10.1)
    Language English
    Publishing date 2020-02-07
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000001720
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1537: Show issues Location:
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  8. Article ; Online: Atypical eosinophils as a biomarker of idiopathic pericardial effusion associated with transient abnormal myelopoiesis in Down syndrome.

    Kobayashi, Kenichiro / Motokura, Kouji / Mizuta, Shumpei / Yoshida, Saya / Ohashi, Yuka / Kawano, Marina / Iwai, Atsushi / Tanaka, Kuniaki / Maihara, Toshiro / Iio, Jun / Nishida, Yoshinobu / Wada, Takahito / Ueshimo, Takeshi / Usami, Ikuya / Heike, Toshio

    Pediatric blood & cancer

    2023  Volume 71, Issue 2, Page(s) e30763

    MeSH term(s) Humans ; Down Syndrome/complications ; Eosinophils ; Pericardial Effusion/complications ; Myelopoiesis ; Biomarkers
    Chemical Substances Biomarkers
    Language English
    Publishing date 2023-11-10
    Publishing country United States
    Document type Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.30763
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    Zs.A 1131: Show issues Location:
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  9. Article ; Online: Simple and Sensitive Analysis for Dried Blood Spot Proteins by Sodium Carbonate Precipitation for Clinical Proteomics

    Nakajima, Daisuke / Kawashima, Yūsuke / Shibata, Hirofumi / Yasumi, Takahiro / Isa, Masahiko / Izawa, Kazushi / Nishikomori, Ryuta / Heike, Toshio / Ohara, Osamu

    Journal of proteome research. 2020 Apr. 28, v. 19, no. 7 p.2821-2827

    2020  

    Abstract: Dried blood spots (DBS) are widely used for screening biomolecular profiles, including enzymatic activities. However, detection of minor proteins in DBS by liquid chromatography–mass spectrometry (LC-MS/MS) without pre-enrichment remains challenging ... ...

    Abstract Dried blood spots (DBS) are widely used for screening biomolecular profiles, including enzymatic activities. However, detection of minor proteins in DBS by liquid chromatography–mass spectrometry (LC-MS/MS) without pre-enrichment remains challenging because of the coexistence of large quantities of hydrophilic proteins. In this study, we address this problem by developing a simple method using sodium carbonate precipitation (SCP). SCP enriches hydrophobic proteins from DBS, allowing substantial removal of soluble proteins. In combination with SCP, we used quantitative LC-MS/MS proteome analysis in a data-independent acquisition mode (DIA) to enhance the sensitivity and quantification limits of proteome analysis. As a result, identification of 1977 proteins in DBS is possible, including 585 disease-related proteins listed in the Online Mendelian Inheritance in Man.
    Keywords Mendelian inheritance ; blood ; enzyme activity ; hydrophilicity ; hydrophobicity ; liquid chromatography ; proteins ; proteome ; proteomics ; screening ; sodium carbonate ; tandem mass spectrometry ; dried blood spot ; data-independent acquisition ; newborn screening ; clinical proteomics
    Language English
    Dates of publication 2020-0428
    Size p. 2821-2827.
    Publishing place American Chemical Society
    Document type Article ; Online
    ZDB-ID 2078618-9
    ISSN 1535-3907 ; 1535-3893
    ISSN (online) 1535-3907
    ISSN 1535-3893
    DOI 10.1021/acs.jproteome.0c00271
    Database NAL-Catalogue (AGRICOLA)

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    Zs.A 6189: Show issues Location:
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  10. Article ; Online: The intracellular Ca2+ concentration is elevated in cardiomyocytes differentiated from hiPSCs derived from a Duchenne muscular dystrophy patient.

    Tsurumi, Fumitoshi / Baba, Shiro / Yoshinaga, Daisuke / Umeda, Katsutsugu / Hirata, Takuya / Takita, Junko / Heike, Toshio

    PloS one

    2019  Volume 14, Issue 3, Page(s) e0213768

    Abstract: Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The major symptoms of this condition are walking difficulties, dyspnea caused by progressive skeletal muscle weakness, and cardiomyopathy. Recent advances in ... ...

    Abstract Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The major symptoms of this condition are walking difficulties, dyspnea caused by progressive skeletal muscle weakness, and cardiomyopathy. Recent advances in ventilator support devices have dramatically decreased mortality caused by respiratory distress. Consequently, cardiomyopathy resulting in heart failure is currently the major cause of death among DMD patients. One mechanism by which skeletal muscle is damaged in DMD patients involves elevation of the intracellular Ca2+ concentration. By contrast, the mechanisms underlying the development of cardiomyopathy are unclear. To investigate this, we examined the intracellular Ca2+ concentration and calcium transients in cardiomyocytes differentiated from human induced pluripotent stem cells (hiPSCs). hiPSCs were derived from a DMD patient (DMD-hiPSCs), in whom exon 44 of the gene encoding dystrophin was deleted, and from his parents (control-hiPSCs), who did not carry this mutation. The intracellular Ca2+ concentration was measured using the fluorescent indicator indo-1. The fluorescence ratio (410/490 nm) of indo-1 at rest (R0), the peak of this ratio (Rmax), and the amplitude (Rmax-R0) were significantly higher in cardiomyocytes differentiated from DMD-hiPSCs than in those differentiated from control-hiPSCs. Moreover, mechanical stretching significantly increased the intracellular Ca2+ concentration in cardiomyocytes differentiated from DMD-hiPSCs, but not in those differentiated from control-hiPSCs. These findings indicate that elevation of the intracellular Ca2+ concentration can cause cardiac damage leading to cardiomyopathy in DMD patients.
    MeSH term(s) Animals ; Calcium/metabolism ; Cardiomyopathies/metabolism ; Cardiomyopathies/pathology ; Cell Differentiation ; Cells, Cultured ; Child, Preschool ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Male ; Mice ; Mice, Inbred NOD ; Mice, SCID ; Muscular Dystrophy, Duchenne/metabolism ; Muscular Dystrophy, Duchenne/pathology ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology
    Chemical Substances Calcium (SY7Q814VUP)
    Language English
    Publishing date 2019-03-15
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0213768
    Database MEDical Literature Analysis and Retrieval System OnLINE

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