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127 ACTA1 associated myopathy with neurogenic EMG changes
We describe a proband and her son who have proximal limb and facial weakness and marked hand involvement. A congenital myopathy panel demonstrated two RYR1 variants and the p.Ile289Phe novel variant in ACTA1. Cases: The proband had initially been diagnosed with SMA following premature birth, late milestones, scoliosis and proximal and distal weakness which was relatively static until age 40. EMG as a child was neurogenic. Her son had poor feeding after birth, delayed motor milestones, intellectual delay, and by his teens, severe facial weakness and distal upper limb wasting particularly the finger flexors and extensors, wi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Doherty, C., Blake, J., Manzur, A., Wakeling, E., Shah, S., Muntoni, F., Reilly, M. Tags: Live Poster, 13 May Poster Session 2 Source Type: research

Comparison of Three Immunoassays for the Detection of Myositis Specific Antibodies
Conclusion: The data hold promise for advancements in standardization of MSA assays as well as for the potential inclusion of MSA in future classification criteria. Introduction Myositis specific (MSA) and myositis associated antibodies (MAA) have been used as an aid in the diagnosis of idiopathic inflammatory myopathies (IIM) for decades (1). Since many of the MSA (e.g., anti-synthetase antibodies), partly depending on the screening dilution, are accompanied by limited sensitivity of the indirect immunofluorescence (IIF) test, this method has limited utility as a screening test for suspected myositis (2–6)...
Source: Frontiers in Immunology - April 29, 2019 Category: Allergy & Immunology Source Type: research

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Publication date: Available online 5 April 2018 Source:The Lancet Author(s): Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews Background Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excita...
Source: The Lancet - April 7, 2018 Category: General Medicine Source Type: research

Statins side effects are minimal, study argues
ConclusionThis meta-analysis pooled results from 29 studies and has shown a very small increased risk of newly diagnosed diabetes mellitus. This is the same as the decreased risk of any cause of death in people taking statins, compared to placebo, to prevent a heart attack or stroke.The researchers point out some limitations to the meta-analysis: Each study did not report on all of the side effects, meaning that for each category of side effect, the number of participants differed. The side effect categories were only included if at least 500 people had reported suffering from it. This means there may be numerous other si...
Source: NHS News Feed - March 13, 2014 Category: Consumer Health News Tags: Heart/lungs Medication Source Type: news