Presse Med
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Randomized Controlled Trial
[Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. ⋯ Several studies have reported that near 60 % of nonclassic CAH patients are carriers of a severe mutation. These patients may therefore give birth to a child with the classical form of CAH if their partner is also carrying a severe mutation. Due to the high frequency of CYP21A2 mutations in the general population, it is essential to genotype the partner of NC-CAH patients with one severe mutation to offer genetic counselling.
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Primary immune thrombocytopenia (ITP) is caused by platelet autoantibodies and T-cell dysregulation. Both platelets and their precursor megakaryocytes may be targeted leading to platelet destruction and underproduction. Current treatments for ITP are inadequate since they do not reverse the disease process and generally do not result in durable remissions. ⋯ Targeted therapies in ITP have the potential to improve disease morbidity and mortality while limiting systemic side effects. Before these agents can be used in practice, additional clinical studies are needed with rational study outcomes including platelet count, bleeding and quality of life. An individualized treatment strategy is needed for patients since ITP is a distinctly heterogeneous disease.
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In France, the main causes for unilateral laryngeal nerve paralysis in the adult patient are surgery and malignant tumors. Most of unilateral laryngeal nerve paralysis following thyroid surgery will recover within the first six postoperative months. ⋯ Speech therapy efficiency is related to the degree of severity of the symptoms related to unilateral laryngeal nerve paralysis. In the vast majority of cases, laryngeal medialization approaches improve dysphonia and swallowing impairment related to unilateral laryngeal paralysis, but not dyspnea.
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Medical culture is both individual and collective. It is also implicit, hidden (hidden curriculum) and binding. ⋯ It strongly impacts the personalities and professional care practices. Awareness of its existence and identification of its main lines are the first steps for fruitful research.