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The Increasing Importance of Patient-Reported Outcomes

During the opening ceremony of the 2012 Olympic Games in London, England, there was a curious segment that baffled many overseas viewers: performers cheerfully forming the initials “NHS.” “NHS” stands for the National Health Service—the national network of healthcare services in the UK that is free at the point of delivery. Some have commented that…

Doctor with iPad at ER

Understanding and Detecting the Tricky Presentation of Hereditary Angioedema

In a paper published in Seminars in Thrombosis and Hemostasis, Petersen and colleagues presented a typical case study of a patient eventually diagnosed with hereditary angioedema.  A 21-year-old woman presented to the emergency department with acute throat swelling. She described having recurrent episodes of swelling in her extremities that typically resolved spontaneously within 3 days.…

LCFAOD complications

The Importance of LCFAOD Treatment Compliance Explored

Primary carnitine deficiency, a form of long chain fatty acid oxidation disorder, paralyzes the ability of carnitine to be transported across plasma membranes into cells. The resulting picture is the pathological decrease of intracellular carnitine concentrations, impairing mitochondrial fatty acid oxidation.  In recent decades, our understanding of primary carnitine deficiency has improved by leaps and…

mast cell

Evaluating the Off-Label Use of Omalizumab in Systemic Mastocytosis

In the Italian Journal of Pediatrics, Bossi and colleagues reported the case of a pediatric patient with systemic mastocytosis (SM) who was successfully treated with omalizumab, adding to a growing body of evidence on the use of the asthma medication in treating SM.  An 8-year-old boy presented with what appeared to be an anaphylactic episode.…

Right ventricle-highlighted heart

Aggressive Afterload Lowering as a Strategy to Improve PAH Outcomes

Despite improvements in our understanding of the pathophysiology of pulmonary arterial hypertension (PAH), it remains a disease of significant morbidity and mortality.  PAH is characterized by dyspnea/fatigue, a common presentation among patients with heart failure. A diagnosis of PAH can only be made when other cardiac/pulmonary causes of increased pulmonary arterial pressure have been ruled…

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