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,…
For patients with refractory Takayasu arteritis (TAK), glucocorticoids (GCs) are often provided as the initial therapy for treatment. However, GCs are often associated with adverse effects for long-term use; relapse also occurs frequently during GC tapering.1 TAK involves interleukin (IL) 6. Tocilizumab—a recombinant, humanized, anti-IL-6 receptor (IL-6R) monoclonal antibody—was first reported by Nishimoto et al….
Evidence is accumulating that the microbiome may be an important part of the pathogenesis of many autoimmune diseases. Two recently published articles report on how translocation of the gut bacterium Enterococcus gallinarum drives autoimmunity in mice and humans, and on the role of other commensal bacteria in triggering immune responses—specifically to the autoantigen Ro60, which…
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…
The immune system is an ocean, wide, vast and unfathomably deep, over which we rheumatologists traverse. Beyond the ripples, waves and eddies on the surface, we can only imagine what lies under the surface. With new information from basic laboratory studies and the incorporation of immunomodulators into clinical practice, we have some new insight into…
Can principles from engineering provide a broader understanding of how the human skeleton works and be used to help prevent a common and often consequential event for people as they age—bone fractures? Research from a team of investigators that includes orthopedic surgeons and mechanical engineers suggests that, yes, looking at how engineered materials, such as…
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…
Antiphospholipid syndrome (APS) is an autoimmune clotting disorder that may present catastrophically with multiple thromboses over a short period of time. In this article, we examine the case of a woman with undiagnosed APS whose first symptoms presented during a long-haul flight. A review of the literature on thrombosis at high altitudes and during long…
NEW YORK (Reuters Health)—Tumor necrosis factor (TNF) inhibitors do not appear to increase cancer-recurrence rates in patients with rheumatoid arthritis (RA), according to new findings from Sweden. TNF has both tumor-promoting and cancer-protective effects, so TNF inhibitors could conceivably affect the risk for cancer recurrence. However, few studies have reported the risk for cancer relapse…
As Lyme disease and Lyme arthritis spread to new regions in North America, physicians may ned to become aware of their signs and symptoms. Allen C. Steere, MD, says “Lyme arthritis is more complicated to treat than other manifestations of the disease.” Here are some best practices for treating Lyme arthritis…