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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The prescription of proton pump inhibitors (PPIs) seems excessive. Taken over the long term, PPIs can cause serious side effects. It therefore turns out to be justified to suspend treatments whose expected benefit seems too low compared to the risks involved : it is deprescription. The objective of this study is to assess a process for the deprescription of PPIs in a hospital internal medicine department. ⋯ The approach undertaken resulted in the suspension of PPI intake in almost 3 out of 10 cases. This result was maintained at least three months for a large majority of patients. It will be interesting to continue this process and extend the monitoring over longer periods, in order to ensure that PPI de-prescription is maintained in the long term.
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Onconeuronal antibodies directed against intracellular antigens are strongly associated with paraneoplastic syndromes and their detection in the absence of cancer is unusual. We herein report a case of anti-Ma2 encephalitis associated with Sjogren's syndrome (SS). ⋯ Anti-Ma2 encephalitis is essentially associated with neoplasia but can occur in Sjogren's syndrome.
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Case Reports
[Spontaneous intracranial hypotension: A rare cause of headache in systemic lupus erythematosus].
Spontaneous intracranial hypotension (SIH), a rare cause of headache, may be idiopathic or secondary, in particular to Systemic Lupus Erythematosus (SLE) where it remains exceptionally evoked or documented. ⋯ Headaches are frequent and often unexplained during SLE. Their orthostatic character should, if appropriate, suggests a SIH and lead to perform a brain MRI, even in the absence of other neurological signs.
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Abnormalities of hematological and biochemical parameters are various and frequent during anorexia nervosa, and are mainly related to malnutrition, weight loss, and compensatory purgative behaviors. They are most often moderate and reversible through appropriate nutritional and weight rehabilitation, as well as well-conducted symptomatic treatment. Severe abnormalities are rarer, but are potentially serious or even fatal. ⋯ Malnutrition can also lead to alterations in hormone status, including hypothyroidism, hypercorticism and hypogonadism, which may be involved in the development of serious bone conditions such as osteoporosis. These abnormalities should be routinely investigated, monitored, and corrected during anorexia nervosa. Early and multidisciplinary management of this eating disorder is essential to prevent chronicity of the disorder and the potential severity of these abnormalities.