The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. [PDF]
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with ...
Barohn, R.J. +25 more
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A practical approach to the patient presenting with dropped head [PDF]
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
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Inclusion-Body Myositis Associated with Alzheimer’s Disease
Sporadic inclusion-body myositis (s-IBM) is a myopathy that is characterized by progressive weakness and muscle pathology demonstrating inflammation and rimmed vacuoles.
Danijela Levacic +4 more
doaj +1 more source
An investigation of infectious etiologies of sporadic inclusion body myositis [PDF]
Introduction: Sporadic inclusion body myositis (sIBM) is a rare, debilitating disease that can significantly lower one’s quality of life. Unfortunately, there are no current effective treatments, as the underlying causes are still unknown. We hypothesize
Kennedy, Tyler, Meltzer, MD, Michele
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A recipe for myositis : nuclear factor κB and nuclear factor of activated T-cells transcription factor pathways spiced up by cytokines [PDF]
Nuclear factor κB (NF-κB) is a well-known pro-inflammatory transcription factor that regulates the expression of the tissue’s immune-active components, which include cytokines, chemokines and adhesion molecules.
De Paepe, Boel
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Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A +12 more
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Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent [PDF]
BACKGROUND: Sarcoidosis is a multi-system disease characterized by the presence of non-caseating epithelioid granulomas in affected tissues, including skeletal muscle.
Eutsler, Eric Eutsler +4 more
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Inclusion body myositis – pathomechanism and lessons from genetics
Inclusion body myositis is a rare, late-onset myopathy. Both inflammatory and myodegenerative features play an important role in their pathogenesis.
Murnyák Balázs +8 more
doaj +1 more source
Predictors of survival in a cohort of patients with polymyositis and dermatomyositis: effect of corticosteroids, methotrexate and azathioprine [PDF]
Introduction: The idiopathic inflammatory myopathies are rare diseases for which data regarding the natural history, response to therapies and factors affecting mortality are needed.
Crofford, Leslie J. +4 more
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. Previous studies have reported elevated cardiac troponin T (cTnT) in patients with inclusion body myositis due to skeletal myopathy. Although the trends of cTnT have been reported in some cases, the onset of elevation has barely been reported.
Zhiqing Fu, Xiujin Zhang, Hanjia Gao
doaj +1 more source

