In those who have low risk, age less than 50, heart rate less than 100 beats per minute, oxygen level more than 94% on room air, and no leg swelling, coughing up of blood, surgery or trauma in the last four weeks, previous blood clots, or estrogen use, further testing is not typically needed.In situations with more high risk individuals, further testing is needed. A CT pulmonary angiogram (CTPA) is the preferred method for diagnosis of a pulmonary embolism due to its easy administration and accuracy. Although a CTPA is preferred, there are also other tests that can be done. For example, a proximal lower limb compression ultrasound (CUS) can be used. This is a test which is primarily used as a confirmatory test, meaning it confirms a previous analysis showing the presence or suspected presence of a pulmonary embolism. According to a cross-sectional study, CUS tests have a sensitivity of 41% and specificity of 96%.If there are concerns this is followed by testing to determine a likelihood of being able to confirm a diagnosis by imaging, followed by imaging if other tests have shown that there is a likelihood of a PE diagnosis.The diagnosis of PE is based primarily on validated clinical criteria combined with selective testing because the typical clinical presentation (shortness of breath, chest pain) cannot be definitively differentiated from other causes of chest pain and shortness of breath.
Eteplirsen (brand name Exondys 51) is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy. Eteplirsen was developed by Steve Wilton, Sue Fletcher and colleagues at the University of Western Australia and commercialized by Sarepta Therapeutics. After a controversial debate surrounding the drugs efficacy, during which two FDA review panel members resigned in protest, eteplirsen received accelerated approval from the US Food and Drug administration in late 2016. The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) refused to authorize the use of eteplirsen. Adverse effects
The following adverse events were observed in at least 10% of people who received eteplirsen in trials: vomiting, contusion, excoriation, arthralgia, rash, catheter site pain, and upper respiratory tract infection. Mechanism of action
Duchenne muscular dystrophy is caused when a mutation in the DMD gene changes the DMD mRNA so that it no longer codes for functional dystrophin protein, usually due to a nonsense mutation that introduces a premature stop codon into the mRNA. If an exon with an appropriate number of bases lies near the mutation, by removing the defective exon the downstream reading frame can be corrected and production of partially functional dystrophin can be restored.