Down syndrome (trisomy 21) is one of the most common chromosomal abnormalities. According to the Genomic Resource Centre of the World Health Organization, each year 3,000–5,000 children are born with this chromosome disorder, and about 250,000 families have at least one member with Down syndrome in the U.S. Down syndrome is caused by numerical aneuploidy,…
Based on the classification system developed by the Chapel Hill Consensus Conference, anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis is defined as a necrotizing vasculitis involving small vessels that is associated with myeloperoxidase (MPO) ANCA or proteinase 3 (PR3) ANCA and displays minimal immune deposits. The mechanism behind the pathogenesis of ANCA-associated vasculitis is not fully…
In 1982, the ACR developed classification criteria for the identification of systemic lupus erythematosus (SLE) for use in research. The ACR updated these criteria in 1997, and in 2012, the Systemic Lupus International Collaborating Clinics (SLICC) group developed an additional set of classification criteria. In 2014, in an attempt to establish and refine even more…
Behçet’s disease is a chronic, relapsing and remitting vasculitis with multisystem involvement. Commonly referred to as the Silk Road disease due to its prevalence in the Asian and Mediterranean region of the traditional Silk Road, Behçet’s was first described by Hippocrates as a triad of symptoms—genital and oral ulcers with uveitis—and attributed to links with…
Granulomatosis with polyangiitis (GPA) was first described in the British Medical Journal in 1897 by Scottish otolaryngologist Peter McBride.1 GPA is a relatively rare, systemic necrotizing vasculitis that can make diagnosis challenging. The incidence has been estimated anywhere between two and 12 cases per million.2 GPA mainly affects adults between the ages of 45 and…
A 73-year-old female established patient with rheumatoid arthritis affecting multiple joints and with positive rheumatoid factor returns to the office for an infliximab infusion. She denies any fevers, cough, dyspnea or concurrent illness. She has joint pain of 6 on the pain scale. She is on an NSAID, weekly methotrexate subcutaneous injections, folic acid and…
When Marilynn “Lynn” Punaro, MD, MACR, isn’t working with medical students, seeing patients in the clinic, participating in translational research or performing leadership duties, she’s enjoying a good book—especially a good mystery. This shouldn’t be a surprise. It was mystery that led Dr. Punaro to a career in pediatric rheumatology more than 30 years ago,…
Editor’s note: In this occasional feature, we first present a series of images (this page) for your review, and then a brief discussion of the findings and diagnosis. Before you read the discussion, examine these images carefully and draw your own conclusions. History A 39-year-old white woman with a three-year history of seropositive rheumatoid arthritis…
The FDA Arthritis Advisory Committee has recommended the approval of 2 mg baricitinib (but not in a 4 mg dose) for treating adults with moderate to severe active RA…
NEW YORK (Reuters Health)—An international task force says patients with juvenile idiopathic arthritis (JIA) should be treated to a target of clinical remission, among other new recommendations. “The Task Force is convinced that transferring (the recommendations) into clinical practice will significantly improve the outcomes in patients with JIA,” Dr. Angelo Ravelli of the Istituto G….