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  1. Article ; Online: Perinatal clinical course of Vici syndrome associated with novel

    Shima, Takashi / Kinjo, Tadamune / Park, Sungyeon / Sonoda, Motoshi

    BMJ case reports

    2024  Volume 17, Issue 1

    Abstract: Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor ( ...

    Abstract Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor (
    MeSH term(s) Female ; Pregnancy ; Child ; Infant, Newborn ; Humans ; Prenatal Diagnosis ; Cataract ; Heart ; Disease Progression ; Autophagy-Related Proteins/genetics ; Vesicular Transport Proteins
    Chemical Substances EPG5 protein, human ; Autophagy-Related Proteins ; Vesicular Transport Proteins
    Language English
    Publishing date 2024-01-05
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2023-255847
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency.

    Sonoda, Motoshi / Ishimura, Masataka / Ogata, Reina / Oda, Hirotsugu / Ohga, Shouichi

    Journal of clinical immunology

    2023  Volume 43, Issue 8, Page(s) 1743–1746

    MeSH term(s) Humans ; Male ; Immunologic Deficiency Syndromes/complications ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/genetics ; Incontinentia Pigmenti/diagnosis ; Incontinentia Pigmenti/genetics
    Language English
    Publishing date 2023-07-11
    Publishing country Netherlands
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01543-2
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
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  3. Article ; Online: Williamsia muralis

    Sonoda, Motoshi / Motomura, Yoshitomo / Ishimura, Masataka / Kanno, Shunsuke / Kiyosuke, Makiko / Ohga, Shouichi

    Access microbiology

    2023  Volume 5, Issue 12

    Abstract: Introduction: Williamsia muralis: Case presentation: A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the ... ...

    Abstract Introduction: Williamsia muralis
    Case presentation: A 10-year-old Japanese boy presented with fever and the swelling of the left cheek 8 days after HCT for the treatment of Fanconi anaemia. Gram-positive, rod-shaped bacteria were isolated from the blood cultures after 5 days incubation. 16S rRNA sequencing, but not mass spectrometry, identified a strain of
    Conclusion: W. muralis
    Language English
    Publishing date 2023-12-04
    Publishing country England
    Document type Case Reports
    ISSN 2516-8290
    ISSN (online) 2516-8290
    DOI 10.1099/acmi.0.000679.v3
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  4. Article ; Online: Vasospastic angina in a boy with hereditary hemorrhagic telangiectasia due to heterogenous large deletion around ENG.

    Narazaki, Kentaro / Nagatomo, Yusaku / Uike, Kiyoshi / Sonoda, Motoshi / Nagata, Hazumu / Yamamura, Kenichiro / Ohga, Shouichi

    Pediatrics international : official journal of the Japan Pediatric Society

    2023  Volume 65, Issue 1, Page(s) e15500

    MeSH term(s) Humans ; Male ; Coronary Vasospasm/diagnosis ; Coronary Vasospasm/genetics ; Endoglin/genetics ; Mutation ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Child ; Sequence Deletion
    Chemical Substances Endoglin ; ENG protein, human
    Language English
    Publishing date 2023-02-10
    Publishing country Australia
    Document type Case Reports ; Journal Article
    ZDB-ID 1470376-2
    ISSN 1442-200X ; 1328-8067
    ISSN (online) 1442-200X
    ISSN 1328-8067
    DOI 10.1111/ped.15500
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    Zs.A 848: Show issues Location:
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  5. Article ; Online: Adenovirus-associated Paroxysmal Cold Hemoglobinuria as Chilly Month Hemolytic Crisis.

    Harada, Nobutaka / Sonoda, Motoshi / Ishimura, Masataka / Eguchi, Katsuhide / Motomura, Yoshitomo / Fujino, Keiko / Ohga, Shouichi

    The Pediatric infectious disease journal

    2023  Volume 43, Issue 4, Page(s) e147–e148

    MeSH term(s) Humans ; Hemoglobinuria, Paroxysmal/complications ; Hemoglobinuria, Paroxysmal/diagnosis ; Adenoviridae ; Adenoviridae Infections
    Language English
    Publishing date 2023-12-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0000000000004230
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    Zs.A 1852: Show issues Location:
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  6. Article: [Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].

    Ishimura, Masataka / Eguchi, Katsuhhide / Sonoda, Motoshi / Shiraishi, Akira / Ohga, Shouichi

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2021  Volume 62, Issue 8, Page(s) 1327–1333

    Abstract: Inherited bone marrow failure syndromes (IBMFS) are caused by genetic mutations at loci associated with DNA repair, telomere maintenance, and ribosome function. Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion- ... ...

    Abstract Inherited bone marrow failure syndromes (IBMFS) are caused by genetic mutations at loci associated with DNA repair, telomere maintenance, and ribosome function. Hematopoietic stem cell transplantation (HSCT) can result in a permanent cure in transfusion-dependent patients if reduced-intensity conditioning and long-term screening for relapse can be successfully implemented. Primary immunodeficiency diseases (PIDs) arise from inborn errors of the host immune system and affected patients must protect themselves against intractable infections and immune system dysregulation. HSCT is curative in many pediatric patients; however, specific immunomodulatory therapies are now available for controlling autoimmune and/or autoinflammatory diseases. Advanced clinical sequencing technologies have continued to identify novel monogenic diseases that share the phenotype of hematological and immunological abnormalities, along with adult cases of IBMFS and/or PIDs. Importantly, genetic counseling is required for carrier detection while selecting sibling donors for HSCT. Here, we describe treatment strategies for IBMFS and/or PIDs and associated pitfalls.
    MeSH term(s) Bone Marrow Diseases/genetics ; Bone Marrow Diseases/therapy ; Child ; Congenital Bone Marrow Failure Syndromes ; Hematopoietic Stem Cell Transplantation ; Humans ; Primary Immunodeficiency Diseases ; Tissue Donors ; Transplantation Conditioning
    Language Japanese
    Publishing date 2021-09-08
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.62.1327
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    Zs.A 1175: Show issues Location:
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    Zs.MO 535: Show issues

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  7. Article ; Online: High-dose immunoglobulin therapy for steroid-resistant myositis in juvenile localized scleroderma.

    Sonoda, Motoshi / Ishimura, Masataka / Eguchi, Katsuhide / Shiraishi, Akira / Sakai, Yasunari / Urabe, Kazunori / Ohga, Shouichi

    Pediatrics and neonatology

    2022  Volume 63, Issue 5, Page(s) 542–544

    MeSH term(s) Humans ; Immunization, Passive ; Myositis ; Scleroderma, Localized/drug therapy ; Steroids/therapeutic use
    Chemical Substances Steroids
    Language English
    Publishing date 2022-04-01
    Publishing country Singapore
    Document type Journal Article
    ZDB-ID 2441816-X
    ISSN 2212-1692 ; 1875-9572
    ISSN (online) 2212-1692
    ISSN 1875-9572
    DOI 10.1016/j.pedneo.2022.01.006
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    Zs.B 1083: Show issues Location:
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  8. Article ; Online: Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.

    Ishimura, Masataka / Eguchi, Katsuhide / Sonoda, Motoshi / Tanaka, Tamami / Shiraishi, Akira / Sakai, Yasunari / Yasumi, Takahiro / Miyamoto, Takayuki / Voskoboinik, Ilia / Hashimoto, Kunio / Matsumoto, Shirou / Ozono, Shuichi / Moritake, Hiroshi / Takada, Hidetoshi / Ohga, Shouichi

    International journal of hematology

    2024  

    Abstract: Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous ... ...

    Abstract Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan. One patient with a novel PRF1 variant escaped screening, but all patients with FHLH2 reached diagnosis and 8 of them received HCT until 3 and 9 months of age, respectively. The earliest HCT was conducted 65 days after birth. Three pretransplant deaths occurred in newborns with liver failure at diagnosis. Ten posttransplant patients have remained disease-free, 7 of whom had no neurological involvement. Time from first etoposide infusion to HCT was shorter in patients without CNS disease or bleeding than in patients with those factors (median [range] days: 62 [50-81] vs. 122 [89-209], p = 0.016). Six of 9 unrelated patients had a PRF1 c.1090_1091delCT variant. These results suggest that the critical times to start etoposide and HCT are within 3 months after birth and during etoposide control, respectively. Newborn screening may increase the percentage of disease-free survivors without complications.
    Language English
    Publishing date 2024-03-20
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 1076875-0
    ISSN 1865-3774 ; 0917-1258 ; 0925-5710
    ISSN (online) 1865-3774
    ISSN 0917-1258 ; 0925-5710
    DOI 10.1007/s12185-024-03721-3
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    Zs.A 269: Show issues Location:
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  9. Article ; Online: Optimal biologics for juvenile idiopathic arthritis in an infection with SARS-CoV-2 α-variant.

    Adachi, Shunichi / Sonoda, Motoshi / Ishimura, Masataka / Eguchi, Katsuhide / Tanaka, Tamami / Motomura, Yoshitomo / Ohga, Shouichi

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

    2021  Volume 33, Issue 1, Page(s) e13686

    MeSH term(s) Antibodies, Monoclonal, Humanized ; Arthritis, Juvenile/drug therapy ; Biological Products/therapeutic use ; COVID-19 ; Child ; Female ; Humans ; SARS-CoV-2
    Chemical Substances Antibodies, Monoclonal, Humanized ; Biological Products
    Language English
    Publishing date 2021-11-06
    Publishing country England
    Document type Case Reports ; Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1057059-7
    ISSN 1399-3038 ; 0905-6157 ; 0906-5784
    ISSN (online) 1399-3038
    ISSN 0905-6157 ; 0906-5784
    DOI 10.1111/pai.13686
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    Zs.A 3096: Show issues Location:
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  10. Article ; Online: Changes in bone marrow and peripheral blood lymphocyte subset findings with onset of hepatitis-associated aplastic anemia.

    Kakiuchi, Toshihiko / Eguchi, Katsuhide / Koga, Daisuke / Eguchi, Hiroi / Nishi, Masanori / Sonoda, Motoshi / Ishimura, Masataka / Matsuo, Muneaki

    Medicine

    2022  Volume 101, Issue 8, Page(s) e28953

    Abstract: Rationale: Hepatitis-associated aplastic anemia (HAAA) is a rare illness that results in bone marrow failure following hepatitis development. The etiological agent remains unknown in most HAAA cases. However, clinical features of the disease and ... ...

    Abstract Rationale: Hepatitis-associated aplastic anemia (HAAA) is a rare illness that results in bone marrow failure following hepatitis development. The etiological agent remains unknown in most HAAA cases. However, clinical features of the disease and immunotherapy response indicate that immune-mediated factors play a central role in the pathogenesis of HAAA. Activation of cytotoxic T cells and increase in CD8 cells could exert cytotoxic effects on the myelopoietic cells in the bone marrow.
    Patient concerns: A 15-month-old boy was brought to our hospital with complaints of generalized petechiae and purpura observed a week prior to hospitalization. His liver was palpated 3 cm below the costal margin, platelet count was 0 × 104/μL, and alanine aminotransferase level was 1346 IU/L. A blood test indicated cytomegalovirus infection, and 3 bone marrow examinations revealed progressive HAAA. As the disease progressed to the 3rd, 6th, and 9th week after onset, CD4+ T cells were markedly decreased, CD8+ T cells were markedly increased, and the CD4/CD8 ratio was significantly decreased. The number of B cells and natural killer cells decreased with time, eventually reaching 0.0%.
    Diagnosis: HAAA.
    Interventions: Rabbit antithymocyte globulin and eltrombopag olamine (a thrombopoietin receptor agonist) were administered.
    Outcomes: The patient's platelet count returned to normal, and bone marrow transplantation was avoided. The peripheral blood lymphocytes (PBLs) improved as the patient's general condition recovered.
    Lessons: This case demonstrates that HAAA induced by cytomegalovirus infection features decreasing CD4+ and increasing CD8+ PBLs as the bone marrow hypoplasia progresses. The PBLs return to their normal levels with the recovery from the disease. Our case findings thus support the involvement of immunological abnormality in HAAA.
    MeSH term(s) Anemia, Aplastic/complications ; Benzoates ; Bone Marrow/pathology ; Cytomegalovirus Infections/complications ; Hepatitis/complications ; Humans ; Hydrazines ; Infant ; Killer Cells, Natural ; Lymphocyte Subsets ; Lymphocytes/pathology ; Male ; Pyrazoles ; Receptors, Thrombopoietin/agonists
    Chemical Substances Benzoates ; Hydrazines ; Pyrazoles ; Receptors, Thrombopoietin ; eltrombopag (S56D65XJ9G)
    Language English
    Publishing date 2022-02-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80184-7
    ISSN 1536-5964 ; 0025-7974
    ISSN (online) 1536-5964
    ISSN 0025-7974
    DOI 10.1097/MD.0000000000028953
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