Polymyositis is an inflammation of muscle tissue of unknown etiology. It is characterized by symmetric, mainly proximal muscle weakness, muscle fiber damage proved on biopsy, increased enzymes and myoglobin, and has corresponding electromyography findings. Other systems such as joints, lungs, heart, and gastrointestinal system are involved. Lung involvement is rather common. The most frequent symptom represents shortness of breath caused by muscle weakness. We report a case of a 66 year old woman with primary idiopathic polymyositis. The clinical state of the patient was complicated by progressive muscle weakness, dysphagia, and respiratory failure. Due to the ineffectiveness of the treatment with corticsteroids and cyclophosphamide, treatment with high doses of immunoglobulins was started. A total of 100 g of i.v. immunoglobulin therapy was administered beginning on the 13th day after hospital admission. The state of the patient progressively improved and after 7 weeks of treatment in a significantly improved state the patient was transferred to a Rehabilitation Unit. We therefore conclude that IVIg therapy may be an effective therapeutic approach for the treatment of acute complications of polymyositis, especially in cases in whom other therapeutic strategies are ineffective or harmful (Ref. 10). Full Text (Free, PDF) www.bmj.sk.
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J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFClin Otolaryngol
January 2025
Department of Otolaryngology and Head and Neck Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Introduction: It is unknown whether prodromal dizziness (PD) before an attack of vestibular neuritis (VN) has an association with peripheral vestibular lesions. The purpose of this study was to investigate whether the severity of vestibular dysfunction has an association with the presence of PD.
Methods: We reviewed the medical records of 88 consecutive unilateral VN patients with unilateral canal paresis in caloric testing.
Curr Pharm Des
January 2025
Amity Institute of Pharmacy, Lucknow, Amity University, Uttar Pradesh, India.
Amyotrophic Lateral Sclerosis (ALS), is a progressive neurodegenerative disease characterized by motor symptoms, and cognitive impairment. The complexity in treating ALS arises from genetic and environmental factors, contributing to the gradual decline of lower and upper motor neurons. The anticipated pharmaceutical market valuation for ALS is projected to reach $1,038.
View Article and Find Full Text PDFFront Vet Sci
January 2025
Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, United States.
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease with weakness, loss of ambulation, and premature death. DMD patients have reduced bone health, including decreased femur length (FL), density, and fractures. The mouse model has paradoxically greater FL, density, and strength, positively correlating with muscle mass.
View Article and Find Full Text PDFOxf Med Case Reports
January 2025
Nursing Department Communicable Diseases Center, Hammad Medical Corporation, Doha 3050, Qatar.
Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia.
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