La Revue de médecine interne
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Rare thrombophilic states are mostly associated with recurrent venous thrombosis or severe thrombosis such as neonatal purpura fulminans. We review here the various causes of rare thrombophilic states. ⋯ These uncommon thrombophilic states require a treatment in a specialized department.
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A man with no atopic antecedent, but who was being treated with a Angiotensin-converting enzyme inhibitor (ACE), was admitted to hospital for an edema affecting the face and tongue. The symptoms included dyspnea and dysphagia but not pruritus or dermal erythema. ⋯ Treatment with C1 inhibitor concentrate (1000u) made the clinical symptoms disappear within 20 minutes. The resulting angioedema induced seems to be linked to the bradykinin metabolism, which would not be any better served by the angiotensin-converting enzyme, which normally inactivates about 75% of it.
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Non tuberculous mycobacterial (NTM) infections, also called atypical mycobacterial infections, are caused by environmental mycobacteria and usually occur in cases of general or local immunosupression. These infections usually concern the lungs, the lymphatic system, the skin or the bones tissues. They are sometimes disseminated. In spite of new efficient antibiotics, including macrolides, therapeutic failures are common and favoured by long treatments with their potential adverse effects and drug interactions. ⋯ For those who are not locally or generally immunosupressed, it is important to search for an immunological deficiency. Indeed, patients having congenital deficiencies occurring in the interferon and interleukine pathways can develop repeated NTM infections. Therefore, for pulmonary infections in treatment failure and for disseminated infections, an adjuvant treatment by interferon gamma could be proposed. New molecules have recently been tested and can be used in some atypical mycobacterial infections.