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  1. Article: [Inherited bone marrow failure syndrome: management and diagnostic advances utilizing next-generation sequencing].

    Muramatsu, Hideki

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2018  Volume 59, Issue 6, Page(s) 716–722

    Abstract: Inherited bone marrow failure syndromes (IBMFS) are part of a heterogeneous disease category in which at least one hematopoietic cell lineage is reduced in the bone marrow owing to a pathogenic genetic mutation. IBMFS comprise >25 defined disease ... ...

    Abstract Inherited bone marrow failure syndromes (IBMFS) are part of a heterogeneous disease category in which at least one hematopoietic cell lineage is reduced in the bone marrow owing to a pathogenic genetic mutation. IBMFS comprise >25 defined disease entities, including Fanconi anemia (FA), Diamond-Blackfan anemia, and dyskeratosis congenita. The diagnosis is based on hematological and physical findings with the aid of several disease-specific diagnostic tests, such as the chromosomal breakage test for FA. With recent advances in clinical molecular studies that have revealed a considerable amount of pathognomonic molecular lesions in IBMFS, the role of genetic tests has become more important in the diagnosis of these diseases. Comprehensive genetic diagnostic systems using next-generation sequencing has been developed in Japan and other countries, making it technically possible to simultaneously analyze and evaluate >100 causative genes of IBMFS, and it is expected to be widely used in clinical settings.
    MeSH term(s) Anemia, Aplastic/diagnosis ; Anemia, Aplastic/therapy ; Bone Marrow Diseases/diagnosis ; Bone Marrow Diseases/therapy ; Hemoglobinuria, Paroxysmal/diagnosis ; Hemoglobinuria, Paroxysmal/therapy ; High-Throughput Nucleotide Sequencing ; Humans
    Language Japanese
    Publishing date 2018-07-05
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.59.716
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1175: Show issues Location:
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    Zs.MO 535: Show issues

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  2. Article: Five-Year Sustained Complete Remission With Minimal Adverse Effects Following Radiosurgery for 2-cm Brain Metastasis With Deep Eloquent Location From Lung Adenocarcinoma Despite Low Marginal Dose and High 12 Gy Volume.

    Ohtakara, Kazuhiro / Nakao, Makoto / Muramatsu, Hideki / Suzuki, Kojiro

    Cureus

    2023  Volume 15, Issue 3, Page(s) e36680

    Abstract: In single-fraction (sf) stereotactic radiosurgery (SRS) for brain metastases (BM) from lung adenocarcinoma (LAC), a marginal dose of ≥22-24 Gy is generally deemed desirable for achieving long-term local tumor control, whereas symptomatic brain ... ...

    Abstract In single-fraction (sf) stereotactic radiosurgery (SRS) for brain metastases (BM) from lung adenocarcinoma (LAC), a marginal dose of ≥22-24 Gy is generally deemed desirable for achieving long-term local tumor control, whereas symptomatic brain radionecrosis significantly increases when the surrounding brain volume receiving ≥12 Gy (V
    Language English
    Publishing date 2023-03-25
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.36680
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Nineteen-Month Immunity to Adverse Radiation Effects Following 5-Fraction Re-radiosurgery With 43.6 Gy for Local Progression After Prior 3-Fraction Radiosurgery for Brain Metastasis From Pan-Negative Lung Adenocarcinoma.

    Ohtakara, Kazuhiro / Nakao, Makoto / Muramatsu, Hideki / Suzuki, Kojiro

    Cureus

    2023  Volume 15, Issue 10, Page(s) e46374

    Abstract: Clinical management of patients with local control failure following stereotactic radiosurgery (SRS) for brain metastasis (BM) can be frequently challenging. Re-irradiation with multi-fraction (fr) SRS by using a biological effective dose of ≥80 Gy, ... ...

    Abstract Clinical management of patients with local control failure following stereotactic radiosurgery (SRS) for brain metastasis (BM) can be frequently challenging. Re-irradiation with multi-fraction (fr) SRS by using a biological effective dose of ≥80 Gy, based on the linear-quadratic formula with an alpha/beta ratio of 10 (BED
    Language English
    Publishing date 2023-10-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.46374
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  4. Article: Genetic predisposition to pediatric myeloid malignancies.

    Muramatsu, Hideki

    Rinsho ketsueki] The Japanese journal of clinical hematology

    2016  Volume 57, Issue 6, Page(s) 730–735

    Abstract: Various genetic disorders are known to be associated with cancer predisposition. For example, children with Down syndrome are predisposed to developing acute myeloid leukemia, and those with RASopathies, such as Noonan syndrome, are predisposed to ... ...

    Abstract Various genetic disorders are known to be associated with cancer predisposition. For example, children with Down syndrome are predisposed to developing acute myeloid leukemia, and those with RASopathies, such as Noonan syndrome, are predisposed to juvenile myelomonocytic leukemia. To date, more than 250 diseases or syndromes have been reported to be associated with the development of pediatric cancers. Recently, the advent of the massive parallel sequencing technique revealed several germline mutations, including RUNX1, CEBPA, GATA2, SRP72, ETV6, and DDX41, which are associated with familial myeloid malignancies. A significant number of children with myeloid malignancies may harbor pathognomonic germline variants. It is strongly recommended that precise diagnosis, genetic counseling, familial screening, and follow-up programs be provided for patients with such a predisposition to cancer. To identify genetic disorders associated with predispositions to pediatric myeloid malignancies, the development of an efficient screening system with the massive parallel sequencer for germline and somatic mutations, which would also be useful for familial genetic studies and prediction of tumor progression, is needed.
    MeSH term(s) Child ; DNA Mismatch Repair ; Down Syndrome/complications ; Genetic Predisposition to Disease ; Hematologic Neoplasms/genetics ; Humans ; Myelodysplastic Syndromes/genetics ; Myeloproliferative Disorders/genetics
    Language Japanese
    Publishing date 2016
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390900-1
    ISSN 0485-1439
    ISSN 0485-1439
    DOI 10.11406/rinketsu.57.730
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Volumetric-Modulated Arc-Based Re-radiosurgery With Simultaneous Reduced-Dose Whole-Brain Irradiation for Local Failures Following Prior Radiosurgery of Brain Oligometastases From Small Cell Lung Cancer.

    Ohtakara, Kazuhiro / Arakawa, Sosuke / Nakao, Makoto / Muramatsu, Hideki / Suzuki, Kojiro

    Cureus

    2023  Volume 15, Issue 8, Page(s) e44492

    Abstract: First-line and possibly repeated stereotactic radiosurgery (SRS) with preserving whole-brain radiotherapy (WBRT) is an attractive and promising option for synchronous or metachronous limited brain metastases (BMs) from small cell lung cancer (SCLC), for ... ...

    Abstract First-line and possibly repeated stereotactic radiosurgery (SRS) with preserving whole-brain radiotherapy (WBRT) is an attractive and promising option for synchronous or metachronous limited brain metastases (BMs) from small cell lung cancer (SCLC), for which a modest prescription dose is generally preferred, such as a biological effective dose of ≤60 Gy, based on the linear-quadratic formula with an alpha/beta ratio of 10 (BED
    Language English
    Publishing date 2023-08-31
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.44492
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Twenty-Month Regression Following Concurrent Conventional Whole-Brain Irradiation and Chemoimmunotherapy for ≥3.8 cm Cerebellar Metastasis From Small Cell Lung Cancer.

    Ohtakara, Kazuhiro / Arakawa, Sosuke / Nakao, Makoto / Muramatsu, Hideki / Suzuki, Kojiro

    Cureus

    2023  Volume 15, Issue 8, Page(s) e43759

    Abstract: Standard whole-brain radiotherapy (WBRT) alone for large brain metastases (BMs) from small cell lung cancer (SCLC) has limited efficacy and durability, and stereotactic radiosurgery (SRS) alone for symptomatic posterior fossa BMs >3 cm with satellite ... ...

    Abstract Standard whole-brain radiotherapy (WBRT) alone for large brain metastases (BMs) from small cell lung cancer (SCLC) has limited efficacy and durability, and stereotactic radiosurgery (SRS) alone for symptomatic posterior fossa BMs >3 cm with satellite lesions is challenging. Herein, we describe the case of a 73-year-old female presenting with treatment-naïve SCLC and 15 symptomatic multiple BMs, including a ≥3.8-cm cerebellar mass (≥17.7 cm
    Language English
    Publishing date 2023-08-19
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.43759
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  7. Article ; Online: Japanese siblings with cartilage-hair hypoplasia exhibiting different severity.

    Kumagai, Naonori / Funato, Yusuke / Wakamatsu, Manabu / Muramatsu, Hideki / Mizuno, Haruo

    Pediatrics international : official journal of the Japan Pediatric Society

    2023  Volume 65, Issue 1, Page(s) e15557

    MeSH term(s) Humans ; East Asian People ; Hair/abnormalities ; Hirschsprung Disease/diagnosis ; Immunologic Deficiency Syndromes ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Primary Immunodeficiency Diseases/diagnosis ; Siblings
    Language English
    Publishing date 2023-06-27
    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.15557
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  8. Article ; Online: Serum CYFRA 21-1 Level as a Prognostic Marker for Extensive Disease Small Cell Lung Cancer.

    Nakao, Makoto / Kinoshita, Ryosuke / Kuriyama, Mamiko / Kiyotoshi, Hiroko / Sugihara, Masahiro / Takeda, Norihisa / Ohtakara, Kazuhiro / Muramatsu, Hideki

    Anticancer research

    2024  Volume 44, Issue 2, Page(s) 845–851

    Abstract: Background/aim: Pretreatment serum cytokeratin 19 fragment (CYFRA21-1) level predicts outcomes in patients with non-small cell lung cancer; however, little is known about the clinical value of serum CYFRA21-1 level in patients with small cell lung ... ...

    Abstract Background/aim: Pretreatment serum cytokeratin 19 fragment (CYFRA21-1) level predicts outcomes in patients with non-small cell lung cancer; however, little is known about the clinical value of serum CYFRA21-1 level in patients with small cell lung cancer (SCLC). The aim of this study was to evaluate the prognostic value of pretreatment serum CYFRA21-1 level in patients with extensive disease (ED)-SCLC treated using platinum-doublet chemotherapy.
    Patients and methods: We retrospectively analyzed the pretreatment serum CYFRA21-1 levels of patients with ED-SCLC who were treated using first-line platinum-doublet chemotherapy.
    Results: A total of 98 patients were analyzed. The patients with a high CYFRA21-1 level (≥7.0 ng/ml) (n=29) had significantly shorter progression-free survival (PFS) and overall survival (OS) than the patients with low CYFRA21-1 levels (n=67) [median PFS=118 days vs. 125 days, respectively (p=0.018); median OS=213 days vs. 295 days, respectively (p=0.046)]. In addition, high CYFRA21-1 level was associated with a high refractory relapse rate.
    Conclusion: Serum CYFRA21-1 level may be a prognostic marker for patients with ED-SCLC treated with platinum-doublet chemotherapy.
    MeSH term(s) Humans ; Carcinoma, Non-Small-Cell Lung ; Keratin-19 ; Lung Neoplasms ; Small Cell Lung Carcinoma/drug therapy ; Prognosis ; Retrospective Studies ; Platinum/therapeutic use ; Neoplasm Recurrence, Local ; Antigens, Neoplasm ; Biomarkers, Tumor
    Chemical Substances antigen CYFRA21.1 ; Keratin-19 ; Platinum (49DFR088MY) ; Antigens, Neoplasm ; Biomarkers, Tumor
    Language English
    Publishing date 2024-02-02
    Publishing country Greece
    Document type Journal Article
    ZDB-ID 604549-2
    ISSN 1791-7530 ; 0250-7005
    ISSN (online) 1791-7530
    ISSN 0250-7005
    DOI 10.21873/anticanres.16877
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    Zs.A 1642: Show issues Location:
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  9. Article ; Online: Clinical features of immature leukemias in children.

    Sajiki, Daichi / Yoshida, Nao / Muramatsu, Hideki / Sakaguchi, Kimiyoshi / Maeda, Naoko / Yokoyama, Norifumi / Miyajima, Yuji / Tanaka, Makito / Takahashi, Yoshiyuki / Hama, Asahito

    International journal of hematology

    2024  

    Abstract: Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL), mixed phenotypic acute leukemia (MPAL), and acute myeloid leukemia with minimal differentiation (AML-M0) all originate from immature hematopoietic progenitor cells and have a poor prognosis. ... ...

    Abstract Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL), mixed phenotypic acute leukemia (MPAL), and acute myeloid leukemia with minimal differentiation (AML-M0) all originate from immature hematopoietic progenitor cells and have a poor prognosis. We investigated the clinical characteristics of these immature leukemias in 17 children (ETP-ALL: 8, MPAL: 5, AML-M0: 4) at seven institutions. Clinical and laboratory findings were comparable across disease types. Eleven and six patients received ALL- and AML-oriented induction chemotherapy, with six and four achieving complete remission (CR), respectively. Five additional patients achieved CR after salvage with the other type of chemotherapy. Eight patients received hematopoietic cell transplantation (HCT) in first CR, and six survived without relapse. However, six of seven patients who did not receive HCT during first CR relapsed; all underwent HCT later, and only three survived. The 5-year event-free survival (EFS) and overall survival (OS) rate were 37% and 69%, respectively. Patients who achieved CR after induction chemotherapy and received HCT in first CR had favorable EFS and OS. Notably, all patients who received HCT in first CR survived 5 years after diagnosis. Appropriate induction chemotherapy and HCT in first CR could improve the outcome of immature leukemias.
    Language English
    Publishing date 2024-04-30
    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/s12185-024-03771-7
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    Zs.A 269: Show issues Location:
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  10. Article ; Online: Dorsal myelopathy after nelarabine and intrathecal methotrexate therapy.

    Sawamura, Fumi / Natsume, Jun / Nakata, Tomohiko / Muramatsu, Hideki / Takahashi, Yoshiyuki

    Pediatrics international : official journal of the Japan Pediatric Society

    2022  Volume 64, Issue 1, Page(s) e15334

    MeSH term(s) Humans ; Methotrexate/adverse effects ; Arabinonucleosides ; Spinal Cord Diseases/chemically induced ; Spinal Cord Diseases/diagnosis ; Injections, Spinal
    Chemical Substances nelarabine (60158CV180) ; Methotrexate (YL5FZ2Y5U1) ; Arabinonucleosides
    Language English
    Publishing date 2022-11-04
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 1470376-2
    ISSN 1442-200X ; 1328-8067
    ISSN (online) 1442-200X
    ISSN 1328-8067
    DOI 10.1111/ped.15334
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