Jenny Walker

Scleroderma in South Australia: epidemiological observations of possible pathogenic significance

Background: Scleroderma is an autoimmune disorder of unknown cause. Previous epidemiological studies have suggested some regional clustering and associations with occupations involving exposure to silica dusts and hydrocarbons.

Stochastic processes in the aetiopathogenesis of scleroderma

We review the aetiology of scleroderma from an epidemiological perspective examining genetic, environmental and stochastic risk factors. The presence of familial clustering (but with low twin concordance) suggests a genetic contribution, and this has been confirmed with recent candidate gene and genome‐wide association screening demonstrating both major histocompatibility complex and non‐major histocompatibility complex genetic linkage. In contrast, environmental associations are weak or inconsistent. An examination of the age‐adjusted incidence curve of scleroderma is consistent with a stochastic process involving five to eight random events. In pathogenesis, scleroderma is best considered as an autoimmune disorder where genetic and environmental factors are both important variables, but random events are also likely to play a pivotal role. We suggest that these random events might result in acquired somatic mutations or epigenetic alterations involving genes coding for immune receptors, tolerogenic gates or proteins involved in immune regulation, inflammation and/or repair that, over time, might summate to form a requisite cassette (of genetic changes), which allows the initiation and progression of the autoimmune process.

Physical activity habits and preferences in the month prior to a first-ever stroke

Background. Physical inactivity is a powerful risk factor for stroke and other chronic diseases. The aim of this study was to explore physical activity habits and preferences in the month leading up to a first-ever stroke, and to determine whether participants were aware of the link between stroke and physical activity. Methods. We undertook an observational study with 81 participants recently admitted to a stroke unit. Participants reported their pre-morbid physical activity preferences and habits and completed the Barriers to Physical Activity and Disability Survey. Data were analysed with summative content analysis and descriptive statistics. Results. Only 31% of participants were aware that physical inactivity was associated with stroke. Most participants defined physical activity with examples of instrumental activities of daily living (IADL) and walking (48% of responses), and IADLs constituted their most frequent regular physical activity (38% of responses). The barriers to physical activity reported by participants most frequently were lack of motivation (52%), lack of interest (50%) and lack of energy (42%). Conclusions. Regular physical activity is important to prevent stroke and other chronic diseases but adults at risk of stroke have little awareness of the risks of physical inactivity and little motivation to undertake regular exercise.

Early Accrual of Organ Damage in Systemic Sclerosis: Rationale for Development of a Disease Damage Index

Introduction Systemic sclerosis (SSc) is characterized by irreversible organ damage rather than fluctuating disease activity. However, there is no validated measure of damage in SSc. We aimed to quantify the accrual of organ damage in patients with early SSc. Methods Patients enrolled in the Australian Scleroderma Cohort Study with less than 2 years of SSc since the onset of the first non-Raynauds symptom were included. Organ damage was defined by a group of six experts as substantial and permanent loss of organ function due to SSc. Results We identified 278 patients with early SSc. Among these, 38% had diffuse SSc. Damage was more common in the diffuse than in the limited disease subtype in the skin/musculoskeletal (75% vs. 25.2%, p<0.001) and lung (31.4% vs. 19.9%, p = 0.035) domains at year seven. The rates of damage accrual were highest in the skin/musculoskeletal, gastrointestinal and respiratory systems at year two (29.1%, 18.7%, 14.4%), increasing at year five (41.4%, 30.6%, 21.2%) and declining thereafter to year seven (43.9%, 32.7%, 23.0%). In particular, there was early accrual of damage due to joint contracture (22.3%), gastrointestinal dysmotility (11.5%) and pulmonary fibrosis with forced vital capacity <70% predicted (9.7%) at year two. The highest accrual rate of organ-specific damage from years two to seven was seen in fecal incontinence followed by proximal muscle weakness and pulmonary fibrosis. Conclusions Substantial accrual of organ damage occurs early in the course of disease, particularly in diffuse SSc. This provides the rationale for the development of a SSc damage index.

The role of nailfold capillary dropout on mortality in systemic sclerosis

Semi‐quantitative wide‐field nailfold capillaroscopy (NFC) is a simple technique with proven utility in the early diagnosis of systemic sclerosis (SSc). Its role in prognosis, however, remains uncertain.

Improving life expectancy of patients with scleroderma: results from the South Australian Scleroderma Register

Scleroderma is a rare connective tissue disorder characterised by inflammation, vasculopathy and excessive fibrosis. Patients with scleroderma are known to have decreased life expectancy.

Autoantibody associations among a well-characterized Australian systemic sclerosis (SSc) cohort

Butterworth P1, Urquhart D2, Cicuttini F2, Menz H1, Strauss B3, Proietto J4, Dixon J5, Jones G6, Wluka A2 1Department of Podiatry, La Trobe University, 2Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, 3Department of Medicine, Southern Clinical School, Monash University, 4University of Melbourne and Austin Health Melbourne, 5Baker IDI Heart and Diabetes Institute and Alfred Hospital, 6Menzies Research Institute, Hobart