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  1. Article ; Online: Applying Hickam's dictum: a case of adult-onset LGMD2I muscular dystrophy and long QT syndrome.

    Sheikh, Ali S F / Lilleker, James B / Chinoy, Hector

    Rheumatology advances in practice

    2023  Volume 7, Issue 2, Page(s) rkad059

    Language English
    Publishing date 2023-07-10
    Publishing country England
    Document type Case Reports
    ISSN 2514-1775
    ISSN (online) 2514-1775
    DOI 10.1093/rap/rkad059
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  2. Article ; Online: Advances in the early diagnosis and therapy of inclusion body myositis.

    Lilleker, James B

    Current opinion in rheumatology

    2018  Volume 30, Issue 6, Page(s) 644–649

    Abstract: Purpose of review: To describe recent advancements in diagnostic and therapeutic approaches to inclusion body myositis (IBM).: Recent findings: Our understanding of the implications of anti-cytosolic 5'-nucleotidase 1A autoantibody status in IBM and ... ...

    Abstract Purpose of review: To describe recent advancements in diagnostic and therapeutic approaches to inclusion body myositis (IBM).
    Recent findings: Our understanding of the implications of anti-cytosolic 5'-nucleotidase 1A autoantibody status in IBM and other diseases is increasing. Muscle imaging using magnetic resonance techniques and ultrasound is increasingly being performed and characteristic patterns of muscle involvement may help with diagnosis. Longitudinal imaging studies are likely to help with monitoring and as an outcome measure in clinical trials. Recent small-scale studies of Arimoclomol and Rapamycin have shown promising results and further investigation of these medications is ongoing. Exercise is likely to form an increasingly important facet of management of patients with IBM, but the optimal type of exercise programme to enrol patients in is not yet determined.
    Summary: Antibody testing and muscle imaging results may improve our ability to diagnose IBM and the availability of effective disease modifying treatments targeting novel non-inflammatory pathways could soon become a reality. It remains the duty of those involved in the management of patients with IBM to facilitate involvement in clinical trials and other research studies.
    MeSH term(s) Autoantibodies/immunology ; Botulinum Toxins/therapeutic use ; Early Diagnosis ; Humans ; Magnetic Resonance Imaging/methods ; Muscle, Skeletal/diagnostic imaging ; Myositis, Inclusion Body/diagnosis ; Myositis, Inclusion Body/drug therapy ; Myositis, Inclusion Body/immunology ; Neurotoxins/therapeutic use ; Ultrasonography/methods
    Chemical Substances Autoantibodies ; Neurotoxins ; Botulinum Toxins (EC 3.4.24.69)
    Language English
    Publishing date 2018-08-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1045317-9
    ISSN 1531-6963 ; 1040-8711
    ISSN (online) 1531-6963
    ISSN 1040-8711
    DOI 10.1097/BOR.0000000000000537
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  3. Article ; Online: Reply to: Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups.

    Khoo, Thomas / Lilleker, James B / Thong, Bernard Yu-Hor / Leclair, Valérie / Lamb, Janine A / Chinoy, Hector

    Nature reviews. Rheumatology

    2024  Volume 20, Issue 5, Page(s) 313–314

    MeSH term(s) Humans ; Myositis/classification ; Myositis/epidemiology ; Myositis/diagnosis ; Incidence
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Letter ; Journal Article
    ZDB-ID 2491532-4
    ISSN 1759-4804 ; 1759-4790
    ISSN (online) 1759-4804
    ISSN 1759-4790
    DOI 10.1038/s41584-024-01106-8
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  4. Article ; Online: Ventilatory failure in chronic neuromuscular disease.

    Long, Gabriella Heloise / Bentley, Andrew / Roberts, Mark / Lilleker, James B

    Practical neurology

    2023  Volume 23, Issue 6, Page(s) 464–475

    Abstract: Patients with neuromuscular diseases (NMD) can present to the neurologist with symptoms and signs of respiratory failure, either acutely or as an insidious process in the outpatient setting. Since the advent of non-invasive ventilation, the outcomes of ... ...

    Abstract Patients with neuromuscular diseases (NMD) can present to the neurologist with symptoms and signs of respiratory failure, either acutely or as an insidious process in the outpatient setting. Since the advent of non-invasive ventilation, the outcomes of patients with ventilatory failure due to NMD have dramatically improved. However, the natural history of different NMDs requires a nuanced approach to respiratory investigation and management. Respiratory failure dictates the prognosis of many NMDs and timing the most appropriate investigation and referral to ventilation services is crucial in optimising care.
    MeSH term(s) Humans ; Respiratory Insufficiency/etiology ; Respiratory Insufficiency/therapy ; Noninvasive Ventilation ; Prognosis ; Chronic Disease ; Neuromuscular Diseases/complications ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/therapy
    Language English
    Publishing date 2023-11-23
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2170881-2
    ISSN 1474-7766 ; 1474-7758
    ISSN (online) 1474-7766
    ISSN 1474-7758
    DOI 10.1136/pn-2023-003841
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  5. Article: The perils of myositis mimickers with illustrative case reports.

    Marago, Italo / Lilleker, James B / Chinoy, Hector

    Clinical and experimental rheumatology

    2022  Volume 40, Issue 2, Page(s) 366–372

    Abstract: Objectives: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of immune-mediated systemic disorders that commonly target skeletal muscles. The aim of our review is to remind clinicians to be vigilant of common mimickers, and what ... ...

    Abstract Objectives: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of immune-mediated systemic disorders that commonly target skeletal muscles. The aim of our review is to remind clinicians to be vigilant of common mimickers, and what red flags to look for to avoid misdiagnosis.
    Methods: We reviewed the clinical documentation and investigation results of illustrative real-life case examples of significant IIM mimickers with valuable learning points. Following an initial diagnosis of IIM, the patients had been referred to our Adult Neuromuscular Service at Salford Royal Hospital Northern Care Alliance NHS Foundation Trust, UK.
    Results: Four cases, two males and two females, were analysed. Retrospective review of key case-specific features suggestive of alternative diagnoses were identified and described, prompting a broader discussion of common disease groups that can mimic IIM.
    Conclusions: The presentation of IIM is heterogeneous and the differential diagnosis wide. Several non-inflammatory conditions can present as mimickers of IIM, each requiring a different management approach.
    MeSH term(s) Adult ; Diagnosis, Differential ; Female ; Humans ; Male ; Muscle, Skeletal ; Myositis/diagnosis ; Retrospective Studies
    Language English
    Publishing date 2022-02-07
    Publishing country Italy
    Document type Case Reports ; Journal Article
    ZDB-ID 605886-3
    ISSN 1593-098X ; 0392-856X
    ISSN (online) 1593-098X
    ISSN 0392-856X
    DOI 10.55563/clinexprheumatol/21xrzf
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  6. Article ; Online: Can machine learning unravel the complex IIM spectrum?

    Lilleker, James B / Chinoy, Hector

    Nature reviews. Rheumatology

    2020  Volume 16, Issue 6, Page(s) 299–300

    Language English
    Publishing date 2020-03-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2491532-4
    ISSN 1759-4804 ; 1759-4790
    ISSN (online) 1759-4804
    ISSN 1759-4790
    DOI 10.1038/s41584-020-0412-6
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  7. Article ; Online: Pitfalls in the diagnosis of myositis.

    Chinoy, Hector / Lilleker, James B

    Best practice & research. Clinical rheumatology

    2020  Volume 34, Issue 1, Page(s) 101486

    Abstract: The idiopathic inflammatory myopathies are a group of heterogeneous autoimmune connective tissue diseases. Despite increase in the understanding of these conditions, securing a timely diagnosis and accurate subtype classification remains difficult in ... ...

    Abstract The idiopathic inflammatory myopathies are a group of heterogeneous autoimmune connective tissue diseases. Despite increase in the understanding of these conditions, securing a timely diagnosis and accurate subtype classification remains difficult in some cases. This has important implications for patients, where delayed or inappropriate treatments can have a negative effect on outcomes. Several conditions can mimic myositis, including metabolic myopathies, genetic myopathies and neurological disease. In addition, the heterogeneity within the idiopathic inflammatory myopathy spectrum can also create diagnostic confusion, referred to here as 'myositis chameleons'. This includes inclusion body myositis, immune-mediated necrotizing myopathy, hypomyopathic variants of anti-synthetase syndrome and overlap disease. We highlight the importance of a thorough diagnostic workup, refer to updated classification criteria and emphasize the importance of myositis autoantibody testing. Where diagnostic doubt exists, the involvement of a specialist centre and a multidisciplinary team is vital.
    MeSH term(s) Autoantibodies ; Autoimmune Diseases/diagnosis ; Humans ; Myositis/diagnosis ; Myositis, Inclusion Body
    Chemical Substances Autoantibodies
    Language English
    Publishing date 2020-02-13
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2052323-3
    ISSN 1532-1770 ; 1521-6942
    ISSN (online) 1532-1770
    ISSN 1521-6942
    DOI 10.1016/j.berh.2020.101486
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  8. Article ; Online: Epidemiology of the idiopathic inflammatory myopathies.

    Khoo, Thomas / Lilleker, James B / Thong, Bernard Yu-Hor / Leclair, Valérie / Lamb, Janine A / Chinoy, Hector

    Nature reviews. Rheumatology

    2023  Volume 19, Issue 11, Page(s) 695–712

    Abstract: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of systemic autoimmune diseases that affect the skeletal muscles and can also involve the skin, joints, lungs and heart. The epidemiology of IIM is obscured by changing ... ...

    Abstract The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of systemic autoimmune diseases that affect the skeletal muscles and can also involve the skin, joints, lungs and heart. The epidemiology of IIM is obscured by changing classification criteria and the inherent shortcomings of case identification using healthcare record diagnostic coding. The incidence of IIM is estimated to range from 0.2 to 2 per 100,000 person-years, with prevalence from 2 to 25 per 100,000 people. Although the effects of age and gender on incidence are known, there is only sparse understanding of ethnic differences, particularly in indigenous populations. The incidence of IIM has reportedly increased in the twenty-first century, but whether this is a genuine increase is not yet known. Understanding of the genetic risk factors for different IIM subtypes has advanced considerably. Infections, medications, malignancy and geography are also commonly identified risk factors. Potentially, the COVID-19 pandemic has altered IIM incidence, although evidence of this occurrence is limited to case reports and small case series. Consideration of the current understanding of the epidemiology of IIM can highlight important areas of interest for future research into these rare diseases.
    MeSH term(s) Humans ; Pandemics ; Myositis/diagnosis ; Muscle, Skeletal ; Incidence ; Prevalence
    Language English
    Publishing date 2023-10-06
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2491532-4
    ISSN 1759-4804 ; 1759-4790
    ISSN (online) 1759-4804
    ISSN 1759-4790
    DOI 10.1038/s41584-023-01033-0
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  9. Article ; Online: 272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands.

    Lilleker, James B / Naddaf, Elie / Saris, Christiaan G J / Schmidt, Jens / de Visser, Marianne / Weihl, Conrad C

    Neuromuscular disorders : NMD

    2024  Volume 37, Page(s) 36–51

    Abstract: Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel ... ...

    Abstract Since the publication of the 2013 European Neuromuscular Center (ENMC) diagnostic criteria for Inclusion Body Myositis (IBM), several advances have been made regarding IBM epidemiology, pathogenesis, diagnostic tools, and clinical trial readiness. Novel diagnostic tools include muscle imaging techniques such as MRI and ultrasound, and serological testing for cytosolic 5'-nucleotidase-1A antibodies. The 272nd ENMC workshop aimed to develop new diagnostic criteria, discuss clinical outcome measures and clinical trial readiness. The workshop started with patient representatives highlighting several understudied symptoms and the urge for a timely diagnosis. This was followed by presentations from IBM experts highlighting the new developments in the field. This report is composed of two parts, the first part providing new diagnostic criteria on which consensus was achieved. The second part focuses on the use of outcome measures in clinical practice and clinical trials, highlighting current limitations and outlining the goals for future studies.
    MeSH term(s) Humans ; Myositis, Inclusion Body/therapy ; Myositis, Inclusion Body/drug therapy ; Netherlands ; Outcome Assessment, Health Care ; Magnetic Resonance Imaging ; Consensus ; Myositis/diagnosis
    Language English
    Publishing date 2024-03-07
    Publishing country England
    Document type Clinical Conference
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2024.03.001
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  10. Article ; Online: Cardiac involvement in inflammatory myopathies and inherited muscle diseases.

    Lilleker, James B / Roberts, Mark / Diederichsen, Louise

    Current opinion in rheumatology

    2020  Volume 32, Issue 6, Page(s) 528–533

    Abstract: Purpose of review: To examine recent developments relating to cardiac involvement in the adult idiopathic inflammatory myopathies (IIM) and those inherited muscle diseases which may present in adulthood and mimic IIM.: Recent findings: Cardiac ... ...

    Abstract Purpose of review: To examine recent developments relating to cardiac involvement in the adult idiopathic inflammatory myopathies (IIM) and those inherited muscle diseases which may present in adulthood and mimic IIM.
    Recent findings: Cardiac involvement is a common feature of IIM and inherited muscle diseases. Frequency according to disease subtype varies, with serotype having particular influence in IIM, and genotype in the inherited muscle diseases. Innovative techniques for examining cardiac function have been investigated further, including speckle-tracking echocardiography and cardiac magnetic resonance tomography. The present work has highlighted a likely underestimate of the burden of cardiac disease to date. The complex relationship between IIM, atherosclerosis, and traditional cardiovascular risk factors has been further elucidated. Consensus recommendations for managing patients with inherited muscle diseases and prominent cardiac involvement have been recently published. In addition to supportive care, disease modifying treatments are increasingly becoming available for inherited muscle diseases which may also improve cardiac outcomes.
    Summary: Cardiac involvement is associated with significant morbidity and mortality. We suggest having a low threshold for considering the possibility of cardiac involvement in all patients with muscle disease.
    MeSH term(s) Heart/diagnostic imaging ; Heart/physiopathology ; Heart Diseases/diagnostic imaging ; Heart Diseases/physiopathology ; Humans ; Magnetic Resonance Imaging ; Muscles/diagnostic imaging ; Muscles/physiopathology ; Myositis/diagnostic imaging ; Myositis/physiopathology
    Keywords covid19
    Language English
    Publishing date 2020-09-17
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1045317-9
    ISSN 1531-6963 ; 1040-8711
    ISSN (online) 1531-6963
    ISSN 1040-8711
    DOI 10.1097/BOR.0000000000000753
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