La Revue de médecine interne
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Heterozygous germline mutations of GATA2 gene (guanine-adenine-thymine-adenine binding protein 2) are hereditary mutations that can be pathogenic, sometimes occurring sporadically, responsible for a florid clinical-biological picture, sometimes serious and quickly leading to the death. ⋯ Each case illustrates a typical clinical presentation of GATA2 deficiency, although the evolution of these syndromes ultimately reveals a complex, heterogeneous and intricate picture of hematological, dermatological, infectious, pulmonary, ENT or oncological symptoms. Mutations in the GATA2 gene remain a diagnostic and therapeutic challenge for the internist, and require multidisciplinary management given the florid picture that can be of interest to all specialties. The clinical spectrum of these GATA2 mutations as well as the latest management recommendations from the recent litterature and the "GATA2 club" are described in this article.
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Review
[Idiopathic intracranial hypertension: From physiopathological mechanisms to therapeutic decision].
Clinical features include visual disturbances, headaches, and pulsatile tinnitus that can be associated with reduced quality of life, and a risk of irreversible visual impairment in some cases. Obese women of childbearing age represent the main at-risk population, and the incidence of the disease is increasing because of rising prevalence of obesity worldwide. In addition, an imbalance in sex hormones is reported as a contributing risk factor. ⋯ Among invasive treatments, transverse sinus stenting seems to be the most interesting option to consider in drug-resistant patients. Weight loss remains essential to achieve a sustainable improvement by reducing central venous pressure. Future randomized trials are expected to reach a consensus on this treatment.
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The rise of omics technologies that simultaneously measure thousands of molecules in a complex biological sample represents the core of systems biology. These technologies have profoundly impacted biomarkers and therapeutic targets discovery in the precision medicine era. Systems biology aims to perform a systematic probing of complex interactions in biological systems. ⋯ Despite their promise, translating these technologies into clinically actionable tools has been slow. In this contribution, we present the most recent multi-omics data generation and analysis strategies and their clinical deployment in the post-genomic era. Furthermore, medical application challenges of omics-based biomarkers are discussed.