La Revue de médecine interne
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Mitochondrial diseases, characterized by a respiratory chain deficiency, are considered as rare genetic diseases but are the most frequent among inherited metabolic disorders. The complexity of their diagnosis is due to the dual control by the mitochondrial (mtDNA) and the nuclear DNA (nDNA), and to the heterogeneous clinical presentations; illegitimate association of symptoms should prompt the clinician to evoke a mitochondrial disorder. ⋯ Even if the new sequencing approaches have profoundly changed the diagnostic process, the brain imaging, the biological, the biochemical, and the histological explorations are still important highlighting the need for a multidisciplinary approach. While for most of the patients with a mitochondrial disease, only supportive and symptomatic therapies are available, recent advances in the understanding of the pathophysiological mechanisms have been made and new therapies are being developed and are evaluated in human clinical trials.
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Observational Study
[The practice of telemedicine by French internal medicine physicians in 2019].
Telemedicine has been developing in France since 2018. The objective of this survey was to assess the knowledge, attitudes, practices and training of internal physicians regarding telemedicine. ⋯ Attitudes towards telemedicine were positive, but few internists knew about it and practiced it formally, warranting appropriate training.