The Value of Joint Aspirations in the Diagnosis and Management of Arthritis in a Hospital-based Rheumatology Service

Abstract Introduction: Although joint aspiration with synovial fluid analysis is useful in the diagnosis of crystal or septic arthritis, the frequency with which it provides a diagnosis or aids subsequent management of patients with arthritis has not been well quantified. We therefore evaluated the usefulness of joint aspiration in the diagnosis and management of patients with arthritis in a hospital-based rheumatology service

An Overview of Surgical Therapy for Movement Disorders

Surgical treatments are an important consideration in the management of many movement disorders, particularly for patients refractory to medications. Increasing number of published reports have demonstrated an overall improvement in motor function, activities of daily living and quality of life particularly with deep brain stimulation. In addition the procedure is also relatively safe. In this article, we review the various types of movement disorders that may benefit from surgical intervention

Haematopoietic Stem Cell Transplantation in Systemic Lupus Erythematosus: A Case Report and Review of the Literature

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease with a relapsing and remitting course, which is often treatable with immunosuppressive therapy. However, we describe a patient with severe and refractory thrombotic thrombocytopaenic purpura (TTP) secondary to SLE that did not respond to high dose corticosteroids, cyclophosphamide (CyC), vincristine, rituximab, and plasmapheresis. She eventually required haematopoietic stem cell transplantation (HSCT) to bring the disease under control. She is in disease remission three years post-stem cell transplantation. HSCT is a possible treatment option for severe and refractory SLE when conventional therapy has failed. HSCT for other rheumatologic diseases is also reviewed

Prevalence of anemia in patients with epidermolysis bullosa registered in Australia

Background: Anemia is a common complication of epidermolysis bullosa (EB). To date, no extensive data on the prevalence of anemia in EB patients have been well characterized worldwide. Objective: To determine and to characterize the prevalence of anemia in the Australian EB population by conducting a retrospective cross-sectional study. Methods: All (n = 368) EB patients registered in the Australasian Epidermolysis Bullosa Registry (AEBR) from 2006 to 2012 were reviewed for pathological evidence of anemia. Patients with EB without anemia and those without hematological parameters were excluded from the study. Patients’ particulars were separated into pediatric (<18 years old) and adult (≥18 years old) male and female subgroups. Results: One-hundred sixty-nine out of 368 EB patients had eligible blood results to be analyzed, as milder forms of EB did not routinely have laboratory testing; 27.8% (n = 47/169) of EB patients were anemic at any time point in their lifetime. All generalized severe junctional EB (JEB-GS) cases (100%, n = 4/4); 68.0% (n = 17/25) of recessive dystrophic EB (RDEB); and 37.5% (n = 6/16) of generalized intermediate JEB (JEB-I) patients were anemic. Limitations: As EB is an orphan disease, the limited sample size may have affected the significance of the study result. Conclusion: The high prevalence of anemia seen in RDEB and JEB generalized severe (JEB-GS) patients in our cohort is similar to those reported in case series. Keywords: Epidermolysis bullosa, Bullous disease, Anemia, Prevalence, Epidemiology, Retrospective stud

Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa

Epidermolysis bullosa (EB) is a rare, inherited blistering genodermatosis. Patients with junctional EB (JEB) due to LAMB3 mutations have widespread blisters and erosions of skin, mucosae, and nails, creating significant physical, emotional, and psychosocial burdens. Here we report the use of colchicine for ameliorating hypergranulating wounds in a 41-year-old female with JEB generalized intermediate. Her skin wounds and granulation tissue gradually exacerbated under silicone dressings such that she became profoundly anemic. Subsequently, she was commenced on colchicine 500 μg daily on the basis that it may inhibit cell proliferation and be anti-inflammatory. After a 6-month trial of colchicine, she had an objective and subjective improvement in her validated EB Disease Activity and Scarring Index activity and damage scores and Quality Of Life in EB score with less skin erosions, granulation tissue, and erythema. In addition, her anemia resolved. She denied any gastrointestinal side effects. The exact mechanism of colchicine in assisting reduction of the blistering, erosions, and granulation in JEB is unclear, but the anti-inflammatory and antimitotic properties of colchicine may be partially responsible for this process. Keywords: anti-inflammatory, colchicine, granulation tissue, junctional epidermolysis bullos

Disease Characteristics of the Singapore Systemic Sclerosis Cohort

Introduction: Systemic sclerosis (SSc) has one of the worst prognoses among autoimmune diseases. Multi-ethnic Western cohorts have shown ethnic differences in disease characteristics. Due to a paucity of data in Asia, we aimed to describe the disease characteristics and autoantibody profile of Asian SSc patients. Methods: The Singapore SSc database consists of prevalent and incident cases from four institutions. Data were recorded annually according to a standardised protocol. Cumulative disease characteristics were analysed using descriptive statistics. Results: From 2008 to 2012, 200 patients (85.5% females; Chinese 78%, Malays 10.5%, Indians 6%) diagnosed at a mean age of 46 years, fulfilled the American College of Rheumatology (ACR) (88.0%) or the Very Early Diagnosis of SSc (VEDOSS) (12%) criteria. SSc subtypes include limited cutaneous SSc (LcSSc) (32%) or diffuse cutaneous SSc (DcSSc) (37.6%), SSc-overlap syndromes (27.4%) and sine scleroderma (3%). Predominant disease manifestations were Raynaud's phenomenon (n=161, 80.5%), gastrointestinal (GI) (n=125, 62.5%), joint pain (n=116, 58%) and interstitial lung disease (ILD) (n=99, 51.8%). Pulmonary arterial hypertension (PAH) by echocardiography was present in 23.2% (39/168) of patients (mean systolic pulmonary arterial pressure 55.0+19.7mmHg). Renal crisis was rare (n=4, 2%). Anti-nuclear antibodies (ANA) tested positive in 78.7% (155/197), with anti-Scl-70 (69/197, 35.0%), anti-ribonucleoprotein (RNP) (56/192, 29.2%) and anti-Ro60 (40/193, 20.7%) most frequently detected. Anti-centromere antibodies were infrequent (23/190, 12.1%). Treatment included corticosteroids (80.7%), for peripheral vasculopathy (61.4%), GI (68%), PAH (11.2%) and immunosuppression (62.9%). Conclusion: Compared to Caucasian patients, our predominantly Chinese Asian SSc patients were diagnosed at an earlier age, with more severe PAH, less frequent Raynaud's phenomenon, an autoantibody profile characterised by anti-Scl70, anti-RNP and anti-Ro60, infrequently anti-centromere and more patients had DcSSc