Camptocormia (CC) or pronounced forward flexion of the trunk is a common symptom of Parkinson's disease. We describe 2 patients with probable, respectively possible multiple-system atrophy and CC. Magnetic resonance imaging of the erector trunci showed focal patchy hyperintensities with gadolinium enhancement and muscle biopsy was indicative of variably pronounced focal myositis. CC was progressive and the major handicap for both patients after 1 and 1.5 years of follow-up, respectively. The therapeutic response was poor. Similarities with the dropped-head syndrome suggest that the muscle pathology may be either the primary cause of CC, a focal reaction to the CC posture, or a coincident syndrome of old age.
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http://dx.doi.org/10.1002/mds.20686 | DOI Listing |
Acta Dermatovenerol Croat
November 2024
Prof. Marija Jelušić, MD, PhD, Department of Paediatrics, University of Zagreb, School of Medicine, Division of Clinical Immunology, Rheumatology and Allergology, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000 Zagreb, Croatia;
Juvenile dermatomyositis with emphasized vasculopathy is rare, but the most severe form of the disease, with a poor prognosis with relapsing and chronic course or, in some cases, lethal outcome. We present a case of a 19-year-old Caucasian female, who developed severe acute juvenile dermatomyositis with emphasized multisystem vasculopathy, including retinal vasculopathy and maculopathy (cotton-wool spots, retinal hemorrhages, macular edema) at the age of 8. Due to no response to standard treatment protocols and rapid worsening of clinical symptoms and laboratory findings, a TNF inhibitor (infliximab) was introduced after the third week of treatment resulting in complete normalisation of muscle enzyme levels and complete resolution of eye changes within the next 2 weeks with a gradual general recovery.
View Article and Find Full Text PDFNeuromuscul Disord
December 2024
School of Medicine, The University of Notre Dame Australia, Fremantle, Western Australia, Australia; Centre for Molecular Medicine & Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia; Perron Institute of Neurological and Translational Sciences, Nedlands, Western Australia, Australia; Department of Neurology, Fiona Stanley Hospital, Murdoch, Western Australia, Australia.
Inclusion body myositis (IBM) is an inflammatory myopathy, characterised by slow progression of weakness, skeletal muscle atrophy, and heterogeneous clinical presentation. This variability in disease progression and presentation complicates tracking of clinical progress and intervention response in clinical trials, presenting challenges in identifying reliable outcome measures. We aimed to identify the most useful suite of clinician-assessed and patient-reported outcome measures (PROMs) for use in clinical practice and trials from a selection of the most commonly used outcome measures in IBM.
View Article and Find Full Text PDFLancet
January 2025
Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
Background: Dermatomyositis is a chronic autoimmune disease with distinctive cutaneous eruptions and muscle weakness, and the pathophysiology is characterised by type I interferon (IFN) dysregulation. This study aims to assess the efficacy, safety, and target engagement of dazukibart, a potent, selective, humanised IgG1 neutralising monoclonal antibody directed against IFNβ, in adults with moderate-to-severe dermatomyositis.
Methods: This multicentre, double-blind, randomised, placebo-controlled, phase 2 trial was conducted at 25 university-based hospitals and outpatient sites in Germany, Hungary, Poland, Spain, and the USA.
Lancet
January 2025
Mount Sinai Liver Cancer Program, Division of Liver Diseases, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Liver Cancer Translational Research Group, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain. Electronic address:
Semin Arthritis Rheum
December 2024
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Italy; Rheumatology and Clinical Immunology, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Humanitas Research Hospital, Rozzano, Italy.
Objective: Older age, dermatomyositis, and specific serum autoantibodies such as anti-TIF1-γ are associated with higher cancer risk in patients with myositis. We evaluated a vast cohort of patients with myositis for the prevalence of cancer, the association to disease features, and the performance of the recent IMACS guidelines.
Methods: A retrospective cohort analysis was performed and in all cases serum autoantibodies were tested using HEp-2, immunoassays, RNA- and protein-immunoprecipitation.
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