La Revue de médecine interne
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Multiple endocrine neoplasia (MEN) are genetic predisposition syndromes to endocrine tumors including MEN1, MEN2 and exceptionally MEN4. MEN are transmitted in an autosomal dominant fashion with a high penetrance. Classically, there is no genotype/phenotype correlation for NEM1 whereas this is the case for NEM2. ⋯ Some mutations are associated with a risk of aggressive CMT, justifying prophylactic thyroidectomy before 6 months of age. The age of genetic testing depends on the mutation subtype in the NEM2 parent. NEM4, related to a mutation in the CDKN1B gene, are rare, with a less well-known pathogenesis and their follow-up is not well codified.
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Case Reports
Immune checkpoint inhibitors-induced systemic capillary leak syndrome: A report of two cases.
The occurrence of systemic capillary leak syndrome under immune checkpoint inhibitors has seldom been reported in the literature. ⋯ A high index of suspicion is required for the diagnosis of immune checkpoint inhibitors-induced systemic capillary leak syndrome because its presentation may differ from that of the idiopathic form. Activated CD8+ T-cells play a prominent role in the occurrence of immune checkpoint inhibitors-induced capillary leakage via their cytolytic action on the vascular endothelium. Treatment relies on supportive measures and discontinuation of the immune checkpoint inhibitor while the place of immunomodulatory drugs remains to be defined.
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Hearing loss is a rare manifestation in giant cell arteritis. The different types of deafness are possible with a predominance of sensorineural deafness. ⋯ Any rapid onset deafness in an inflammatory context in the elderly should lead to a search for giant cell arteritis. The diagnosis can be difficult in the absence of other typical manifestations, especially since the biopsy of the temporal artery most often comes back negative. Corticosteroids are usually effective.
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Uncertainty in inherent to every aspects of medical practice. As the concept of uncertainty in healthcare is still to explore, deciphering the determinants and the roots of this uncertainty would benefit from the insights of various disciplines, such as epistemology, sociology, mathematics, or philosophy. ⋯ Thus, we propose at first to discuss the uncertainty tolerance framework from Hillen et al. Then, from an educational perspective, we outline some avenues regarding how uncertainty tolerance could be thought, in a competence-based approach, and discuss several educational activities, which have proven efficient in promoting uncertainty tolerance among medical practitioners abroad.