La Revue de médecine interne
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Systemic sclerosis is a rare connective tissue disease characterized by skin and several internal organ fibrosis, systemic vasculopathy and immune abnormalities. Even if fibroblasts and endothelial cells dysfunction, as well as lymphocytes and other immune cells implication are now well described, the exact origin and chronology of the disease pathogenesis remain unclear. Oxidative stress, influenced by genetic and environmental factors, seems to play a key role. ⋯ Nevertheless, this treatment can expose to important, life-threatening toxicity. In the last decade, new mechanisms implicated in the pathogenesis of systemic sclerosis have been unraveled, bringing new therapeutic opportunities. In this review, we offer to focus on recent insights in the knowledge of systemic sclerosis pathogenesis and its implication in current and future medical care.
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Clonal hematopoiesis of undetermined significance or CHIP describes the identification, in individuals without hematologic disease, of one or more somatic mutations in hematopoietic cells. These mutations, detected by high-throughput genes sequencing (Next-Generation Sequencing or NGS), affect genes first identified in acute myeloid leukemia or myelodysplastic syndrome, such as DNMT3A, TET2 and ASXL1. ⋯ CHIP is also associated with an increased risk of overall mortality and cardiovascular diseases. CHIP detection using NGS is currently limited to basic science field, but recent studies suggest that it may be of clinical interest.
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Malnutrition remains a particularly important issue in elderly. Physiological ageing induces many changes but ageing cannot entirely explain a Protein-Energy Malnutrition (PEM). Nutritionnal screening is indicated once a year in community medicine or in the first 48hours in case of an acute disease or of hospitalization. ⋯ Recommendations for dietary intakes in healthy old subjects are about 30 kcal/kg/day and 1 g/kg/day of protein and are strongly enhanced in case of acute or chronic diseases. The nutritional strategy depends on spontaneous food intake, medical situation, patient profile and opinion. Appropriate nutritional care could reduce morbidity-mortality and prevent functional decline in various disease contexts.
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Autoimmune acquired haemophilia is a rare autoimmune disease. The purpose of immunosuppressive therapy is to stop the production of autoantibodies that inhibit clotting factors VIII or IX. A corticosteroids-cyclophosphamide combination is recommanded as first-line therapy. From our experience at the University Hospital of Nîmes, we discuss the place of rituximab in the therapeutic arsenal. ⋯ Rituximab appears to be an effective and well-tolerated treatment for autoimmune acquired haemophilia. However, its place remains to be specified.
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Lithium salts are the main treatment of bipolar disorder, which is characterized by potentially life-threatening maniac and/or depressive episodes. They have proven efficient in the prevention and treatment of acute episodes as well as in the prevention of suicidal risk. However, this efficacy is counterbalanced by a narrow therapeutic range that can lead to potentially harmful overdose, and by adverse long-term events. ⋯ Treatment cessation due to these adverse events should be a multidisciplinary and case-by-case decision based on the benefit/risk ratio. Since these toxic effects are mild and display slow progression, treatment cessation is uncommon. However, regular medical and biological check-up is needed in order to prevent these disorders, and patients might be referred to nephrologists and/or endocrinologists once the disorders are established.