Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study.

Background: Myoadenylate deaminase (MAD) deficiency is a form of metabolic myopathy, which generally causes only mild symptoms in the primary inherited form. Inflammatory myopathies are a group of autoimmune diseases which result in skeletal muscle weakness. In addition to inflammatory pathology, it has been speculated that non-inflammatory mechanisms, and possibly secondary MAD-deficiency, may potentially contribute to weakness in these conditions.

Signet-ring cell appearance of atrophic fat cells.

Cells with 'signet-ring' appearance were found at post-mortem examination of a man with a history of chronic illness, weight loss and multiple regions of 'bowel thickening' during life. Due to the decedent's history, the finding raised the possibility of disseminated signet-ring adenocarcinoma. However, the vacuoles did not stain for mucin and the cells did not stain for keratin.

Aberrant Expression of High Mobility Group Box Protein 1 in the Idiopathic Inflammatory Myopathies.

Introduction: High Mobility Group Box Protein 1 (HMGB1) is a DNA-binding protein that exerts inflammatory or pro-repair effects upon translocation from the nucleus. We postulate aberrant HMGB1 expression in immune-mediated necrotising myopathy (IMNM).

Methods: Herein, we compare HMGB1 expression (serological and sarcoplasmic) in patients with IMNM with that of other myositis subtypes using immunohistochemistry and ELISA.

Clinical and histological features of immune-mediated necrotising myopathy: A multi-centre South Australian cohort study.

Immune-mediated necrotising myopathy (IMNM) is a recently described entity. We describe a cohort of South Australian IMNM patients in order to define the spectrum of disease, characterise features that distinguish IMNM from other idiopathic inflammatory myopathy (IIM) subtypes and identify factors associated with clinically severe disease. Subjects were identified from the South Australian Myositis Database (SAMD), a histologically defined registry.

Inclusion-body myositis and primary Sjögren syndrome: mechanisms for shared etiologies.

Herein we report a case of sporadic inclusion-body myositis (sIBM) occurring at an unusually young age in a patient with primary Sjögren syndrome, and use the case to explore possible shared mechanisms for disease susceptibility. Possible factors may include the association of both conditions with the 8.1 ancestral haplotype; the presence of anti-cN1A antibodies, which, although considered specific for sIBM, are also seen in pSS; and the shared association with T-cell large granular lymphocyte leukemia (T-LGLL).

Use of rituximab in histologically confirmed idiopathic inflammatory myositis: a case series.

The purpose of the study was to undertake an audit of the use of rituximab in refractory idiopathic inflammatory myositis (IIM). Patients with biopsy-proven refractory IIM treated with rituximab, attending the rheumatology clinic at the Royal Adelaide Hospital were identified by searching the electronic database of patient records from 2007 to March 2013. Seven cases (five women, two men), age range 31 to 68 years with histologically confirmed IIM, were identified.

Immunohistochemical staining of epoxy resin sections of peripheral nerve.

The authors describe a simple and cost-effective method of immunostaining semithin epoxy resin sections of peripheral nerve for light microscopy with antibodies to myelin protein zero, peripheral myelin protein 22, myelin basic protein, and neurofilament protein 200 using a combined technique of surface etching with sodium ethoxide and heat-induced antigen retrieval.

Peripheral nervous system and central nervous system pathology in rapidly progressive lower motor neuron syndrome with immunoglobulin M anti-GM1 ganglioside antibody.

Pathological studies, including novel teased peripheral nerve fiber studies, were performed in a patient who presented with a rapidly progressive, lower motor neuron syndrome and high titer of immunoglobulin M anti-GM1 ganglioside antibody. In the central nervous system, there was a severe loss of motor neurons and central chromatolysis with ubiquitin immunopositive cytoplasmic inclusions in residual motor neurons. In the peripheral nervous system, axonal degeneration of myelinated fibers in the anterior nerve roots was evident.

Tomacula in MAG-deficient mice.

The pathogenesis of tomacula in mice with a null mutation of the myelin-associated glycoprotein (MAG) gene is not well understood. This study, using a novel teased nerve fiber technique, demonstrates that tomacula in MAG-deficient mice are formed by redundant myelin infoldings and outfoldings in the paranodal regions as early as 4 weeks after birth and increase in size and frequency with age. Although tomacula show degenerative changes with increasing age, there was no significant evidence of demyelination/remyelination.