Clinical utility of nailfold capillaroscopy.

Nailfold capillaroscopy (NFC) is a simple noninvasive microscopic technique used to identify characteristic morphological abnormalities in the nailfold capillaries. The presence of this microvasculopathy appears to be of fundamental importance in the pathological processes that underlie the scleroderma spectrum disorders (including dermatomyositis and antisynthetase myositis). This review discusses the different methodologies and techniques in performing NFC and stresses the diagnostic utility achieved with simple 'bedside' techniques utilising the ophthalmoscope, dermatoscope or smart phone.

Scleroderma renal crisis: observations from the South Australian Scleroderma Register.

Background: Scleroderma renal crisis (SRC) is a rare but feared complication with high morbidity and mortality. Its aetiopathogenesis is unclear.

Aim: To investigate epidemiological, serologic and clinical features of all patients with SRC listed on the population-based South Australian Scleroderma Register and to examine possible factors in aetiopathogenesis.

Systemic sclerosis, birth order and parity.

Aim: A recent study identified increasing birth order to be a risk factor for the development of systemic sclerosis (SSc). This finding supports the theory that transplacental microchimerism may be a key pathological event in the initiation of SSc. We investigated the relationship between birth order and parity and the age of onset of SSc in South Australia.

Incidence and prevalence of idiopathic inflammatory myopathies in South Australia: a 30-year epidemiologic study of histology-proven cases.

Aim: To describe the epidemiology of biopsy-proven idiopathic inflammatory myopathies (IIM) in South Australia (SA).

Methods: Cases of IIM were ascertained by review of all muscle biopsy reports from the Neuropathology Laboratory, Hanson Institute (wherein all adult muscle biopsies in SA are reported) from 1980 to 2009. Clinical correlation of these patients by review of medical records was undertaken.

South Australian Scleroderma Register: autoantibodies as predictive biomarkers of phenotype and outcome.

Aim: To investigate the relationship between scleroderma-specific autoantibodies and clinical phenotype and survival in South Australian patients with scleroderma.

Method: Two cohorts of patients were studied from the South Australian Scleroderma Register (SASR). In the first, the sera of 129 consecutive patients were analyzed for anticentromere (ACA), anti-Scl70, anti-RNA polymerase III, anti-U1RNP, anti-Th/To, anti-Pm/Scl, anti-Ku and anti-fibrillarin antibodies using the Euroline immunoblot assay.

A seminal monograph: Mackay and Burnet's Autoimmune diseases.

Mackay and Burnet's Autoimmune diseases, published in 1962, marked the beginning of autoimmunity as a clinical science and led to the future acceptance of the existence of autoimmunity. While there is still controversy regarding the mechanisms of autoimmunity, the authors' insightful hypothesis based on clonal selection theory and the emergence of "forbidden clones", due to somatic mutations, is still current, with recent evidence giving further credence to this hypothesis. We salute Mackay and Burnet on the 50th anniversary of this seminal publication.

Idiopathic inflammatory myositis is associated with a high incidence of hypertension and diabetes mellitus.

Aims: The long-terms complications of immunosuppressive and anti-inflammatory treatment in idiopathic inflammatory myositis (IIM) are unknown. We sought to determine the complications of these treatments in a large cohort of patients with biopsy-proven IIM.

Methods: A South Australian database for patients with biopsy-proven IIM was established.

Apoptosis in the rheumatoid arthritis synovial membrane: modulation by disease-modifying anti-rheumatic drug treatment.

Objectives: RA is characterized at the synovial tissue level by synovial lining hyperplasia, angiogenesis and mononuclear cell infiltrates. A failure of apoptotic pathways may explain these pathological changes in RA synovial tissue. This study aims to demonstrate the presence of initiators and inhibitors of apoptosis in RA synovial tissue and the effect of treatment with DMARDs on apoptotic pathways in RA.

Diagnostic utility of anti-Ro52 detection in systemic autoimmunity.

Objectives: To determine the prevalence and diagnostic utility of monospecific anti-Ro52 (defined as an immune response against Ro-52 antigen in the absence of reactivity to Ro-60 antigen) reactivity in selected autoimmune diseases.

Study Design: Stored diagnostic non-consecutive serum samples obtained from patients with systemic lupus erythematosus (SLE), primary Sjögren's syndrome (pSS), systemic sclerosis, idiopathic inflammatory myopathies (IIM), rheumatoid arthritis, primary biliary cirrhosis and mixed essential cryoglobulinaemia were analysed by line immunoassay to detect the presence of anti-Ro52 and other autoantibodies.

Results: Monospecific anti-Ro52 reactivity was found in 51 (12.

Modulation of RANKL and osteoprotegerin expression in synovial tissue from patients with rheumatoid arthritis in response to disease-modifying antirheumatic drug treatment and correlation with radiologic outcome.

Objective: To demonstrate the effect of treatment with disease-modifying agents on the expression of osteoprotegerin (OPG) and RANKL in the synovial tissue from rheumatoid arthritis (RA) patients and to correlate these changes with radiologic damage measured on sequential radiographs of the hands and feet.

Methods: Synovial biopsy specimens were obtained at arthroscopy from 25 patients with active RA (16 of whom had a disease duration <12 months) before and at 3-6-month intervals after starting treatment with a disease-modifying agent. Immunohistologic analysis was performed using monoclonal antibodies to detect OPG and RANKL expression, with staining quantitated using computer-assisted image analysis and semiquantitative analysis techniques.

Breast cancer and systemic sclerosis: a clinical description of 21 patients in a population-based cohort study.

Previous studies have demonstrated an increased risk of breast cancer among patients with systemic sclerosis (scleroderma). To describe the clinical characteristics of 21 patients with both systemic sclerosis and breast cancer, and compare their risk factors to female scleroderma patients without breast cancer, in a population-based cohort study of South Australia. Subjects with scleroderma and breast cancer were identified from the South Australian Scleroderma Register with cross-linking to the South Australian Cancer Registry, last updated to the end of December 2005.

Anti-Ro52 antibodies, antisynthetase antibodies, and antisynthetase syndrome.

We present a case of antisynthetase syndrome manifesting with interstitial lung disease, mechanic's hands, nailfold abnormalities, and subclinical myositis, in the presence of antibodies to the aminoacyl tRNA synthetase PL-12 and also to Ro52. Antibodies to Ro52 have been recently associated with idiopathic inflammatory myositis, but there have only been occasional reports of this antibody occurring in association with aminoacyl tRNA synthetases, including PL-12. Our case adds to the descriptions of the concurrence of antibodies to PL-12 and Ro52.

Histopathological and ultrastructural features of dermal telangiectasias in systemic sclerosis.

Aims: To investigate the histological, ultrastructural and immunohistochemical features of the vascular lining of dermal telangiectasia, a characteristic clinical finding in scleroderma.

Methods: Standard histological, electron microscopic and immunohistological techniques were used to examine dermal telangiectasias in five patients with limited scleroderma, the most common scleroderma variant in Caucasian populations.

Results: The telangiectasias were dilated postcapillary venules located in the papillary and superficial reticular dermis.

Variability of RANKL and osteoprotegerin staining in synovial tissue from patients with active rheumatoid arthritis: quantification using color video image analysis.

Objective: To assess the interpatient, interbiopsy, and intrabiopsy variability of receptor activator of nuclear factor kB ligand (RANKL) and osteoprotegerin (OPG) immunostaining within synovial tissue from rheumatoid knee joints with active synovitis, using digital image analysis.

Methods: Synovial biopsy specimens were obtained from patients with rheumatoid arthritis (RA) and active synovitis. Immunohistologic analysis was performed on frozen synovial tissue biopsy specimens from 6 patients using a monoclonal antibody (Mab) to detect RANKL (626) or OPG (805 or 8051).

Antinuclear antibody testing in a regional immunopathology laboratory.

A systematic review has been undertaken of antinuclear antibody testing over a 6-year period in a regional immunotherapy laboratory servicing a population of 400 000. Twenty-eight per cent of the 20 205 antinuclear antibody tests performed on a hyperexpressing Ro transfected cellular substrate were positive (titre >/= 1 : 80) with the most common immunofluorescent patterns being homogeneous (39%), speckled (20%), mixed (17%), nucleolar (8%), Ro (7%) and centromere (4%). Ro antibody as detected by immunofluorescence was strongly concordant with anti-Ro detected by counter immunoelectrophoresis precipitation; of 261 anti-Ro counter immunoelectrophoresis precipitation positive patients surveyed, only 15 were missed and 20 masked (with homogenous pattern) by immunofluorescence.

Paraproteins: a regional South Australian experience.

We have performed a systematic review of all new serum and urinary paraproteins detected over a six year period in an immunodiagnostic laboratory serving a population of 400,000 people. Clinical diagnoses and associated laboratory features were ascertained from a computerized laboratory database or from clinical notes. Over the period of study, serum or urine paraproteins were detected in 613 new patients.

Stochastic processes in the causation of rheumatic disease.

Objective: Rheumatic disorders arise in certain individuals depending on the interaction of genetic and environmental factors, the contribution for each varying with the specific rheumatic disorder. However, a third variable, i.e.

IgM paraproteinaemia: disease associations and laboratory features.

Aims: To review the disease associations and laboratory features occurring in IgM paraproteinaemia.

Methods: Systematic review of all new serum IgM paraproteins detected over a 6-year period in an immunodiagnostic laboratory serving a population of 400,000 people. Clinical diagnoses were ascertained from a computerised laboratory database or clinical notes, whilst associated laboratory features were obtained from the same sources.