La Revue de médecine interne
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Telomeres are composed of a repeated sequence of double-stranded nucleotides TTAGGG and numerous proteins including the Shelterin complex. Their main role is to maintain the stability of the genome during cell replication through a mechanism of copying the repeted sequence by the telomerase complexe. All the diseases involving a deregulation of this complex are now grouped together under the term telomeropathies. They are difficult to diagnose and manage. Our objective was to describe the clinico-biological characteristics and treatments used, in patients affected by telomeropathies previously seen by an hematologist followed at the Lille University Hospital Center. ⋯ It is important to be aware of the complexity of telomeropathies, a differential diagnosis of immune aplastic anemia, in order to optimize management and avoid inappropriate treatments. Allografting of hematopoietic stem cells is the only potentially curative treatment. Our analysis found particularities in immunophenotyping lymphocyte not previously described to our knowledge, whose physiopathological imputability remains to be demonstrated.
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Systemic diseases, which are in France mainly monitored in internal medicine, affect multiple organs or tissues. While cutaneous or articular manifestations are the most common, neurological involvement is often associated with severity. Diagnosis of peripheral (e.g, neuropathies) or central (e.g, myelitis) nervous disorders is quite easy through clinical examination and dedicated complementary tests. ⋯ Nevertheless, these cognitive manifestations are closely related to patients' quality of life, affecting their social life, family dynamics and professional integration but also the treatment adherence. The purpose of this review, focused on the example of systemic lupus erythematosus, is to raise awareness of cognitive dysfunction in systemic diseases including their management from diagnosis to treatments. The final aim is to go further into setting up research groups and care programs for patients with cognitive impairment followed in internal medicine.
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Venous thromboembolic events (VTE) occur in approximately 50% of cases during or following hospitalization; VTE are a major cause of morbidity and mortality. Thromboprophylaxis for 6 to 14 days with heparins or fondaparinux has been demonstrated to be effective in VTE prevention in patients hospitalized for acute medical illnesses and reduced mobility. Nevertheless, the level of recommendation has been gradually downgraded as the benefit has been mainly demonstrated on the basis of systematic imaging diagnosed events. ⋯ VTE and bleeding risk assessment scores were constructed but have not been validated. In order to improve the adequacy of prescriptions for thromboprophylaxis, the impact of different interventions has been the subject of several studies but these yielded varying results. The aim of this review is to analyze the indications for thromboprophylaxis in a medical setting with the latest available data.