PAX3 has a demonstrated role in muscle cell development, which supports its potential role in RMS. The t(2;13) translocation can result in the PAX3-FKHR fusion product, which is indicative of classic cystic ARMS. Cases of FP-RMS are associated with a poorer prognosis than fusion-negative RMS.The fusion protein presents a potential therapeutic target, and in recent years more research has been conducted to clarify the role of PAX3-FOXO1 in FP-RMS. PAX3-FOXO1 is now known to drive key oncogenes such as MYC and MYCN by creating long-distance genetic interactions by super enhancers. In this context, PAX3-FOXO1 both (1) drives the expression of MYC, MYCN and even MYOD1 (a transcription factor highly expressed in all RMS subtypes) but also (2) co-binds with these master transcription factors at super enhancers to support cancer growth. Furthermore, it was demonstrated that FP-RMS subtypes were especially sensitive to inhibitors (such as JQ1) of a super enhancer bound protein BRD4.Embryonal RMS usually presents with a loss of heterozygosity (LOH) in the short arm of chromosome 11 (p11,15.5). This region is associated with multiple oncogenes, and the potential loss-of-function of this region is likely associated with the loss of a tumor suppressor. However, the specific consequences of this LOH at (p11,15.5) have yet to be determined.
Adhesive capsulitis, also known as frozen shoulder, is a condition associated with shoulder pain and stiffness. It is a common shoulder ailment that is marked by pain and a loss of range of motion, particularly in external rotation. There is a loss of the ability to move the shoulder, both voluntarily and by others, in multiple directions. The shoulder itself, however, does not generally hurt significantly when touched. Muscle loss around the shoulder may also occur. Onset is gradual over weeks to months. Complications can include fracture of the humerus or biceps tendon rupture.The cause in most cases is unknown. The condition can also occur after injury or surgery to the shoulder. Risk factors include diabetes and thyroid disease. The underlying mechanism involves inflammation and scarring. The diagnosis is generally based on a persons symptoms and a physical exam. The diagnosis may be supported by an MRI. Adhesive capsulitis has been linked to diabetes and hypothyroidism, according to research. Adhesive capsulitis was five times more common in diabetic patients than in the control group, according to a meta-analysis published in 2016.The condition often resolves itself over time without intervention but this may take several years. While a number of treatments, such as NSAIDs, physical therapy, steroids, and injecting the shoulder at high pressure, may be tried, it is unclear what is best. Surgery may be suggested for those who do not get better after a few months. About 4% of people are affected.