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  1. Article: [Current and Future Status of Muscle Pathology: The Position of Muscle Pathology Diagnosis in the Future].

    Saito, Yoshihiko / Nishino, Ichizo

    Brain and nerve = Shinkei kenkyu no shinpo

    2024  Volume 76, Issue 4, Page(s) 375–386

    Abstract: Many muscle disease names are mostly based on muscle pathology findings. Naturally, muscle pathology is important in the diagnosis of muscle diseases. Moreover, in recent years, extensive genetic analysis and autoantibody testing for myositis have been ... ...

    Abstract Many muscle disease names are mostly based on muscle pathology findings. Naturally, muscle pathology is important in the diagnosis of muscle diseases. Moreover, in recent years, extensive genetic analysis and autoantibody testing for myositis have been applied clinically, although muscle biopsies are less performed. However, muscle pathology should be proactively considered when a single gene presents multiple phenotypes, when variants of unknown pathological significance are detected, or in cases of autoimmune myositis that may be misdiagnosed as muscular dystrophy.
    MeSH term(s) Humans ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Myositis ; Muscular Dystrophies/pathology ; Autoimmune Diseases ; Muscles/pathology ; Muscle, Skeletal/pathology
    Language Japanese
    Publishing date 2024-04-08
    Publishing country Japan
    Document type English Abstract ; Journal Article
    ZDB-ID 390389-8
    ISSN 1344-8129 ; 1881-6096 ; 0006-8969
    ISSN (online) 1344-8129
    ISSN 1881-6096 ; 0006-8969
    DOI 10.11477/mf.1416202614
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 398: Show issues Location:
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  2. Article ; Online: A review of major causative genes in congenital myopathies.

    Ogasawara, Masashi / Nishino, Ichizo

    Journal of human genetics

    2022  Volume 68, Issue 3, Page(s) 215–225

    Abstract: In this review, we focus on congenital myopathies, which are a genetically heterogeneous group of hereditary muscle diseases with slow or minimal progression. They are mainly defined and classified according to pathological features, with the major ... ...

    Abstract In this review, we focus on congenital myopathies, which are a genetically heterogeneous group of hereditary muscle diseases with slow or minimal progression. They are mainly defined and classified according to pathological features, with the major subtypes being core myopathy (central core disease), nemaline myopathy, myotubular/centronuclear myopathy, and congenital fiber-type disproportion myopathy. Recent advances in molecular genetics, especially next-generation sequencing technology, have rapidly increased the number of known causative genes for congenital myopathies; however, most of the diseases related to the novel causative genes are extremely rare. There remains no cure for congenital myopathies. However, there have been recent promising findings that could inform the development of therapy for several types of congenital myopathies, including myotubular myopathy, which indicates the importance of prompt and correct diagnosis. This review discusses the major causative genes (NEB, ACTA1, ADSSL1, RYR1, SELENON, MTM1, DNM2, and TPM3) for each subtype of congenital myopathies and the relevant latest findings.
    MeSH term(s) Humans ; High-Throughput Nucleotide Sequencing ; Muscle, Skeletal/pathology ; Mutation ; Myopathies, Structural, Congenital/genetics ; Technology
    Language English
    Publishing date 2022-06-07
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1425192-9
    ISSN 1435-232X ; 1434-5161
    ISSN (online) 1435-232X
    ISSN 1434-5161
    DOI 10.1038/s10038-022-01045-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Update on dermatomyositis.

    Tanboon, Jantima / Nishino, Ichizo

    Current opinion in neurology

    2022  Volume 35, Issue 5, Page(s) 611–621

    Abstract: Purpose of review: This review summarizes and comments on current knowledge in dermatomyositis.: Recent findings: The 2018 European Neuromuscular Centre classification of dermatomyositis has been challenging by the discovery of clinicopathological ... ...

    Abstract Purpose of review: This review summarizes and comments on current knowledge in dermatomyositis.
    Recent findings: The 2018 European Neuromuscular Centre classification of dermatomyositis has been challenging by the discovery of clinicopathological features associated with dermatomyositis-specific antibody (DMSA) that were not incorporated in the original criteria. These features include but may not be limited to the presence of perifascicular necrosis in anti-Mi-2 dermatomyositis; presence of diffuse nonperifascicular sarcoplasmic myxovirus resistance protein A expression in anti-MDA5 dermatomyositis; and dermatomyositis sine dermatitis in anti-NXP-2 dermatomyositis. Variations and subclassifications within the same DMSA subtypes are observed: anti-MDA5 dermatomyositis is clinically subcategorized into good, intermediate, and poor prognostic subgroups; concurrent anti-CCAR1 and anti-TIF1-γ positivity identify anti-TIF1-γ-positive patient with a lower risk for cancer-associated myositis. Owing to distinct IFN1-signaling pathway activation in dermatomyositis, JAK-STAT inhibitor - the pathway-targeted therapy, have been studied with promising results in refractory dermatomyositis and some new-onset dermatomyositis. In addition, the potential serum biomarkers for IFN1 pathway activation are being investigated for their performance in monitoring the disease activity and the efficacy of the treatment.
    Summary: DMSA, evidence of prominent IFN1 pathway activation, and risk/severity-associated biomarkers would likely play major roles in future dermatomyositis classification, disease monitoring, and treatment decision.
    MeSH term(s) Autoantibodies ; Biomarkers ; Dermatomyositis ; Humans ; Myositis ; Neoplasms ; Succimer
    Chemical Substances Autoantibodies ; Biomarkers ; Succimer (DX1U2629QE)
    Language English
    Publishing date 2022-08-04
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/WCO.0000000000001091
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in

    Maruo, Yuji / Saito, Yoshihiko / Nishino, Ichizo / Takeda, Atsuhito

    European heart journal. Case reports

    2023  Volume 7, Issue 10, Page(s) ytad509

    Abstract: Background: Ryanodine receptor 1 (: Case summary: At 7 months, the patient presented neurological manifestations of hypotonia and delayed motor development. A skeletal muscle biopsy performed at age 4 years led to the diagnosis of centronuclear ... ...

    Abstract Background: Ryanodine receptor 1 (
    Case summary: At 7 months, the patient presented neurological manifestations of hypotonia and delayed motor development. A skeletal muscle biopsy performed at age 4 years led to the diagnosis of centronuclear myopathy. At age 15 years, frequent PVCs and NSVT were identified on the electrocardiogram and 24 h Holter monitoring. Treatment with verapamil was initiated; however, it was not beneficial. Therefore, flecainide was added to the treatment, decreasing the frequency of PVCs and NSVT. Non-sustained ventricular tachycardia disappeared at the age of 21, and PVCs almost disappeared at the age of 22. Genetic testing revealed c.13216delG (p.E4406Rfs*35), c.14874G>C (p.K4958N), and c.9892G>A (p.A3298T) in
    Discussion: This is the first report of ventricular arrhythmia associated with
    Language English
    Publishing date 2023-10-13
    Publishing country England
    Document type Case Reports
    ISSN 2514-2119
    ISSN (online) 2514-2119
    DOI 10.1093/ehjcr/ytad509
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Anti-mitochondrial antibody-mediated myopathy with cardiac involvement: reply.

    Nagatomo, Yuji / Yoshizawa, Saeko / Oya, Yasushi / Nishino, Ichizo

    European heart journal. Case reports

    2023  Volume 7, Issue 8, Page(s) ytad348

    Language English
    Publishing date 2023-07-25
    Publishing country England
    Document type Journal Article
    ISSN 2514-2119
    ISSN (online) 2514-2119
    DOI 10.1093/ehjcr/ytad348
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.

    Ogasawara, Masashi / Nishino, Ichizo

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 10, Page(s) 968–977

    Abstract: Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be ... ...

    Abstract Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. Although RYR1-related myopathy is the most common core myopathy, an increasing number of other causative genes have been reported, including SELENON, MYH2, MYH7, TTN, CCDC78, UNC45B, ACTN2, MEGF10, CFL2, KBTBD13, and TRIP4. Furthermore, the genes originally reported to cause nemaline myopathy, namely ACTA1, NEB, and TNNT1, have been recently associated with core-rod myopathy. Genetic analysis allows us to diagnose each core myopathy more accurately. In this review, we aim to provide up-to-date information about core myopathies.
    MeSH term(s) Biopsy ; Humans ; Muscle Proteins/genetics ; Muscle, Skeletal/pathology ; Mutation ; Myopathies, Nemaline/genetics ; Myopathies, Structural, Congenital/genetics ; Myopathy, Central Core/genetics ; Ophthalmoplegia/genetics ; Ryanodine Receptor Calcium Release Channel/deficiency ; Ryanodine Receptor Calcium Release Channel/genetics
    Chemical Substances KBTBD13 protein, human ; Muscle Proteins ; Ryanodine Receptor Calcium Release Channel
    Language English
    Publishing date 2021-09-17
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.08.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3258: Show issues Location:
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  7. Article: [Clinicopathological Features of Myositis and Necrotizing Myopathy: How to Distinguish between Myositis and Muscular Dystrophy on Muscle Pathology].

    Saito, Yoshihiko / Nishino, Ichizo

    Brain and nerve = Shinkei kenkyu no shinpo

    2021  Volume 73, Issue 2, Page(s) 147–159

    Abstract: In the field of neurology, idiopathic inflammatory myopathy has been classified into four sub-categories, namely, dermatomyositis, anti-synthetase syndrome, inclusion body myositis, and immune-mediated necrotizing myopathy (IMNM), based upon histological ...

    Abstract In the field of neurology, idiopathic inflammatory myopathy has been classified into four sub-categories, namely, dermatomyositis, anti-synthetase syndrome, inclusion body myositis, and immune-mediated necrotizing myopathy (IMNM), based upon histological and serological findings. Among them, IMNM has features similar to muscular dystrophy, and it may thus be difficult to differentiate between these two conditions, not only clinically but also pathologically, especially in chronic cases and pediatric patients. This is partly because the main pathological feature of both IMNM and muscular dystrophy is myofiber necrosis and regeneration. Furthermore, IMNM patients with anti-SRP antibodies tend to have more prominent muscle atrophy, especially in the shoulder girdle, which mimics the muscle involvement pattern in facioscapulohumeral muscular dystrophy. Some IMNM patients with anti-HMGCR antibodies have onset in their childhood or even in infancy, and may be misdiagnosed with muscular dystrophy. On the other hand, some muscular dystrophies have been reported to show more prominent lymphocyte infiltration than others, which may also mislead muscle pathologists. Nevertheless, these conditions can be distinguished using the relevant histological evaluations, including muscle immunohistochemistry for the MHC and C5b-9 antigens, in addition to appropriate clinical and laboratory examinations including muscle MRI and autoantibody testing.
    MeSH term(s) Autoantibodies ; Child ; Humans ; Muscle, Skeletal ; Muscular Diseases ; Muscular Dystrophies/diagnosis ; Myositis/diagnosis ; Myositis, Inclusion Body
    Chemical Substances Autoantibodies
    Language Japanese
    Publishing date 2021-02-02
    Publishing country Japan
    Document type Journal Article
    ZDB-ID 390389-8
    ISSN 1344-8129 ; 1881-6096 ; 0006-8969
    ISSN (online) 1344-8129
    ISSN 1881-6096 ; 0006-8969
    DOI 10.11477/mf.1416201727
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in

    El Sherif, Rasha / Saito, Yoshihiko / Awaya, Tomonari / Noguchi, Satoru / Nishino, Ichizo

    Neurology. Genetics

    2024  Volume 10, Issue 2, Page(s) e200137

    Abstract: Objectives: Collagen VI-related myopathy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, caused by genetic variants in : Methods: We performed clinicopathologic diagnosis and analysis using ... ...

    Abstract Objectives: Collagen VI-related myopathy spans a clinical continuum from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, caused by genetic variants in
    Methods: We performed clinicopathologic diagnosis and analysis using whole-genome and RNA sequencing.
    Results: We report Ullrich congenital muscular dystrophy caused by a homozygous deletion, c.*198_*466del, which includes a polyadenylation signal in the canonical last exon of the
    Discussion: Our case provides a valuable example of the mechanism of alternative splicing switches for polyadenylation selection.
    Language English
    Publishing date 2024-03-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000200137
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

    Yoshioka, Wakako / Nakamura, Harumasa / Oba, Mari / Saito, Yoshihiko / Nishino, Ichizo / Mori-Yoshimura, Madoka

    Journal of neurology

    2024  

    Abstract: Background: GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by pathogenic variants of the GNE gene, which encodes a key enzyme in sialic acid biosynthesis. The present study aimed to examine the long-term progression of GNE ... ...

    Abstract Background: GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by pathogenic variants of the GNE gene, which encodes a key enzyme in sialic acid biosynthesis. The present study aimed to examine the long-term progression of GNE myopathy, genotype-phenotype correlations, and complications to provide useful information for predicting patient progression and designing clinical trials using a large collection of registry data over a 10-year period.
    Methods: We analyzed 220 Japanese patients with GNE myopathy from a national registry in Japan. Diagnoses were confirmed by genetic curators based on genetic analysis reports. We analyzed registration sheets and annually updated items completed by attending physicians.
    Results: In total, 197 of 220 participants (89.5%) carried p.D207V or p.V603L in at least one allele. The median disease duration to loss of ambulation was estimated to be 10 years in p.V603L homozygotes (n = 48), whereas more than 90% of p.D207V/p.V603L compound heterozygotes were estimated to be ambulatory even 20 years after disease onset according to Kaplan-Meier analysis (p < 0.001). Moreover, participants with a younger age of onset lost ambulation earlier regardless of genotype. A decline in respiratory function was observed as the disease progressed, particularly in p.V603L homozygotes, whereas none of the p.D207V/p.V603L compound heterozygotes showed a decline.
    Conclusions: The present study demonstrated large differences in disease progression and respiratory function between genotypes. Moreover, age of onset was found to be an indicator of disease severity regardless of genotype in GNE myopathy patients. These results may help stratify patients in clinical trials and predict disease progression.
    Language English
    Publishing date 2024-05-01
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-024-12396-z
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  10. Article: A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile).

    Tokuda, Naoki / Tsuji, Yukiko / Inoue, Michio / Nishino, Ichizo / Makino, Masahiro

    Cureus

    2023  Volume 15, Issue 4, Page(s) e37824

    Abstract: Laminopathy is muscular dystrophy caused by ... ...

    Abstract Laminopathy is muscular dystrophy caused by an
    Language English
    Publishing date 2023-04-19
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.37824
    Database MEDical Literature Analysis and Retrieval System OnLINE

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