Evaluation of sweating responses in patients with collagen disease using the quantitative sudomotor axon reflex test (QSART): a study protocol for an investigator-initiated, prospective, observational clinical study

IntroductionSweat secretion is controlled by the sympathetic nervous system and is less active during winter than in the summer. Raynaud’s phenomenon is affected by an excessive strain of the sympathetic nerves after exposure to a cold environment, thus reducing the quality of life of patients with collagen disease. Herein, we focus on the eccrine sweat glands that receive both adrenergic and cholinergic innervation. Our hypothesis is that excessive activation of sympathetic nerve in Raynaud’s phenomenon can affect sweating, especially in winter. This study is designed to evaluate the neuroactive sweating responses in patients with collagen disease and to assess its association with skin findings in peripheral circulatory disorders.Methods and analysisThe study will be conducted at a single centre in Japan. Patients with systemic sclerosis, Sjogren’s syndrome, systemic lupus erythematosus, mixed connective tissue disease, and dermatomyositis will be assessed using the quantitative sudomotor axon reflex test. The primary outcomes will be sweat volume and reaction time due to axon reflex and the Raynaud’s condition score. The secondary outcomes will include patient background, skin symptoms (digital ulcers, pernio-like eruptions, subcutaneous calcifications, telangiectasia, nailfold capillary dilatation/bleeding and degree of skin sclerosis) and skin surface temperature. Evaluation will be done two times, during the summer and winter, allowing for the assessment of seasonal differences in sweating responses.Ethics and disseminationEthical approval of this study was certified by the clinical research review board of Nagasaki University Hospital (Reference number: CRB19-001). We will disseminate the findings of this study through peer-reviewed publications and conference presentations.Trial registration numberjRCTs072190009; pre-results.

Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study

Introduction: The aim of this study is to explore whether male patients diagnosed of congenital collagen diseases had higher risk of occurrence inguinal hernia than patients who do not had these diseases.Method: Data were collected from National Health Insurance Research Database (NHIRD) of Taiwan retrospectively. 1801 male patients who diagnosed of congenital collagen disease by using ICD-9 CM diagnostic code was the study cohort, and in the other hand, after propensity score matching, 6493 man without congenital collagen disease were enrolled as control group. The primary endpoint was receiving inguinal hernia repair during observation period.Result: During median 133.9 months follow-up period, the risk of inguinal hernia in collagen cohort was significantly higher than the control group (HR = 2.237, 95% CI:1.646–3.291, p < 0.001). Furthermore, this phenomenon also presented in patient younger than 18 (HR:3.040 95% CI: 1.819–5.083, p < 0.001) and in age 18–80 (HR: 1.909, 95% CI: 1.186–3.073, p < 0.001).Conclusion: Asian men, regardless of age, with congenital collagen disease are at the risk of developing inguinal hernia. Detailed physical examination and well patient education should be performed while facing these patients.

CORONA VIRUS / COVID19 Practical advice for people with Ehlers-Danlos (hereditary connective tissue or collagen disease)

These recommendations relate to patients who, despite their number, are rarely diagnosed or after a painful and dangerous medical wandering of 20 years on average.

P4710Impact of therapeutic angiogenesis using autologous bone marrow-derived mononuclear cells implantation in critical limb ischemia with collagen disease

Background Many patients with collagen disease (CD), particularly systemic sclerosis (SSc) and collagen disease-associated vasculitis (CDV), develop critical limb ischemia (CLI) which leads to limb amputation. In SSc vasculopathy, intimal hyperplasia, abnormal vascular contraction, and intravascular micro thrombus due to autoimmune abnormalities are main causes of inadequate blood supply that lead to the development of CLI. Moreover, in CDV, presence of inflammation cells infiltrates and destruction of the vascular wall also lead to vascular stenosis or obstruction. However, conventional therapies including revascularization via surgical bypass showed poor outcomes in CLI patients with CD. Therefore, establishment of new methods to improve peripheral circulation for limb salvage are required. Purpose After discovering that circulating endothelial progenitor cells (EPCs) mobilized from the bone marrow participate in postnatal neovascularization, autologous bone marrow-derived mononuclear cells (BM-MNCs) has been performed as a new treatment for many no-option CLI patients caused by arteriosclerosis obliterans, thromboangiitis obliterans or CD. In this study, we would like to assess the long-term clinical outcomes after autologous BM-MNCs implantation in CLI patients with SSc and CDV. Methods This study was a retrospective, multicenter, observational, and non-controlled study. We assessed no-option CLI patients with CD who were performed the autologous BM-MNCs implantation in 10 institutes. Overall survival (OS), major-amputation-free (MAF) and amputation-free survival (AFS) rates were primary endpoints of this study. In addition, we assessed improvements of ischemic pain as visual analogue scale (VAS) scores. Safety endpoints were defined as cardiovascular events and all-cause adverse events within 6 months after implantation. Results A total of 69 patients (39 with SSc–related diseases (SSc group) and 30 with CDV (CDV group)), were included in this study. The median follow-up duration was 36.5 months. The 10-year OS rate was 59.1% in the SSc group and 82.4% in the CDV group, respectively. The 10-year MAF rates were 97.4% and 82.6%, respectively. The 10-year AFS rates were 57.6% and 67.8%, respectively (Figure 1). The number of major or minor amputations in the SSc group trended to be less than that in the CDV group. In addition, significant improvement in VAS scores were observed in both groups (Figure 2). No patients died, no cardiovascular events, and no severe adverse events associated with BM-MNCs implantation were noted within 6 months after this therapy in both groups. Figure 1 Conclusions The BM-MNCs implantation may be feasible in no-option CLI patients with CD. Improvement of ischemic symptoms by BM-MNCs implantation was significant in both groups and, in the SSc group, limb salvage rate tended to be higher than the CDV group.

Oral submucous fibrosis: is it a collagen disease? A study in search for its aetiology

<p class="abstract"><strong>Background:</strong> The aetiopathogenesis of oral submucous fibrosis (OSMF), though not an uncommon disease, is not yet well established. OSMF is prevalent in the geographical area of study. These were the driving factors to conduct this study. This haematological study in patients with oral submucous fibrosis was conducted to find out some definite causative features so that an effective treatment regime could be evolved.</p><p class="abstract"><strong>Methods:</strong> This prospective hospital-based observational study was conducted in the Department of Otorhinolaryngology (ENT) and Pathology in a tertiary care medical college hospital. The 150 clinically diagnosed patients were enrolled for the study. Routine laboratory tests were done to identify markers which would suggest autoimmune conditions. </p><p class="abstract"><strong>Results:</strong> In 124 cases (83%), mild to moderately anaemia was observed while 75 cases (50%) showed raised ESR. Lymphocytosis and eosinophilia were observed in 42 cases (28%) and 48 cases (32%) respectively. Hyperglobulinaemia was observed in 45 cases (30%). In 18 cases (12%) leukocytosis was observed. In 30 cases (20%), pus cells were seen in urine, while ova and cysts were found present in 42 cases (28%).</p><p class="abstract"><strong>Conclusions:</strong> The present study could not establish the commonly claimed theory of collagen disease. The exact aetiology of OSMF is not yet known. Some genetic factors seem to play a role, which make some people predisposed to react abnormally to chronic masticatories of different forms of areca nut, tobacco and areca leaves. Therefore further research in the direction of genetic studies will perhaps reveal the exact cause of OSMF.</p>