La Revue de médecine interne
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VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recently described, due to a somatic mutation of the UBA1 gene and often associated with hemopathy, is characterized by systemic symptoms close to those described in Still's disease or relapsing polychondritis. There are also patients with hemopathy, presenting inflammatory symptoms reminiscent of those of VEXAS syndrome but without mutation of the UBA1 gene. ⋯ The role of somatic mutations in the pathophysiology of autoinflammatory diseases associated with hematologic diseases must be better understood in order to better characterize them and develop targeted treatments.
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The platypnea orthodeoxia syndrome is a rare clinical entity combining positional dyspnea and arterial oxygen desaturation during the transition to orthostatism, reversible on return to decubitus. The most frequent etiology of this syndrome is the presence of a patent foramen ovale (PFO) responsible for a right-to-left intracardiac shunt, the severity of which results in significant functional disability and a risk of death from hypoxia. ⋯ The platypnea orthodeoxia syndrome associated with a patent foramen ovale often suffers from delayed diagnosis. Advanced age and co-morbidities should not prevent patients from undergoing percutaneous PFO closure, as the clinical benefit is important.
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Multicenter Study
How to avoid gifts from your patients after the Christmas holidays?
Receiving gifts from patients could generate an ethical dilemma for physicians and refusing a present may be perceived as an offence. ⋯ After analysing the factors that increase the risk of receiving a gift from a patient, we have surmised the following advice for physicians who do not wish to find themselves in the midst of an ethical dilemma. They should avoid staying in the same service for more than 5 years, try to adopt the MBTI personality type "Analyst" and be on time in their consultations.
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Aortitis is a rare disease entity of unknown prevalence. Primary aortitis mainly affects the thoracic aorta. They are most often diagnosed on imaging by grade III 18-FDG uptake of the aortic wall on PET, or by circumferential thickening>2.2mm on CT or MRI with late-stage contrast. ⋯ Aortitis secondary to systemic diseases is seen in atrophying polychondritis, systemic lupus and inflammatory rheumatic diseases such as spondyloarthropathy and rheumatoid arthritis. In both ACG and AT, aortitis is a negative factor, characterized by a higher risk of relapse, cardiovascular complications and increased mortality. The management of aortitis is insufficiently codified, and relies on the control of cardiovascular risk factors, with particular monitoring of blood pressure and LDL cholesterol, and on corticosteroid therapy and immunosuppressive drugs, the use of which will depend on the disease associated with the aortitis, the initial severity and comorbidities.