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Introduction: The life expectancy of β-thalassemia patients has increased over the last 20 years. In this study, we evaluated the current health status and quality of life of these patients managed in a reference center in Marseille., Methods: This is a single-center, descriptive study conducted between June and August 2019 in patients over 18 years of age with β-thalassemia major or intermedia. Clinical and paraclinical data were collected retrospectively and the SF-36 health survey questionnaire was proposed to each patient., Results: 43 of 64 selected patients were included and divided into 2 groups: 35 patients with transfusion-dependent β-thalassemia and 8 patients with non-transfusion-dependent β-thalassemia. Liver iron overload is the most frequent complication, present in 80% of transfusion-dependent and 62.5% of non-transfusion-dependent patients. Cardiac iron overload is present only in the transfusion dependent β-thalassemia group (20%). Hypogonadotropic hypogonadism remains the most common endocrine disorder (41.9%) followed by osteoporosis (37.2%). Among the 31 patients who completed the SF-36 questionnaire, physical and mental quality of life scores were lowered in transfusion dependent (respectively 42.7 and 46.8) as in non-transfusion-dependent patients (respectively 43.8 and 28.9)., Conclusion: Despite an improvement in medical care, our patients with β-thalassemia show an alteration in their quality of life that will need to be characterized in the entire French cohort., (Copyright © 2024 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)

Translation of proteins is a fundamental part of gene expression that is mediated by ribosomes. As ribosomes significantly contribute to both cellular mass and energy consumption, achieving efficient management of the ribosome population is also crucial to metabolism and growth. Inspired by biological evidence for nutrient-dependent mechanisms that control both ribosome-active degradation and genesis, we introduce a dynamical model of protein production, that includes the dynamics of resources and control over the ribosome population. Under the hypothesis that active degradation and biogenesis are optimal for maximizing and maintaining protein production, we aim to qualitatively reproduce empirical observations of the ribosome population dynamics. Upon formulating the associated optimization problem, we first analytically study the stability and global behaviour of solutions under constant resource input, and characterize the extent of oscillations and convergence rate to a global equilibrium. We further use these results to simplify and solve the problem under a quasi-static approximation. Using biophysical parameter values, we find that optimal control solutions lead to both control mechanisms and the ribosome population switching between periods of feeding and fasting, suggesting that the intense regulation of ribosome population observed in experiments allows to maximize and maintain protein production. Finally, we find some range for the control values over which such a regime can be observed, depending on the intensity of fasting.

Introduction: Adrenal hemorrhage is a classical but rare complication of antiphospholipid syndrome, revealing diagnosis in one third of the cases. Anti-vitamin K therapy is the standard treatment but direct oral anticoagulants are discussed as an alternative. In the latest recommendations, it is advised not to use direct oral anticoagulants in the setting of antiphospholipid syndrome., Case Report: We present a case of bilateral adrenal hemorrhage revealing primary antiphospholipid syndrome with triple positive antibody profile, in a 47-year-old man treated by apixaban for previous venous thromboembolism., Conclusion: To our knowledge, it is the first case of adrenal hemorrhage occurring during apixaban treatment in a patient with antiphospholipid syndrome. This case illustrates the inefficacy of direct oral anticoagulants to prevent thrombotic events in antiphospholipid syndrome, in accordance with the latest recommendations., (Copyright © 2019 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)

Iron deficiency, without anaemia, is common in the general population and induces various symptoms. Its management consists of oral and intravenous supplementation for cases of inefficacy of or intolerance to oral iron. We assessed the efficacy of intravenous iron therapy in non-anaemic iron-deficient patients with fatigue. We prospectively evaluated the level of fatigue, using the Fatigue Severity Scale (FSS), in patients suffering from iron deficiency without anaemia, treated by intravenous iron at the moment of the perfusion (W0), after 4 weeks (W4), and 12 weeks (W12). Of 25 patients, at W0, the mean FFS was 49.3+/-13.7. There was a significant improvement in FSS at W4 (44+/-15; p = 0.01) and a sustained response at W12 with an FFS of 35.8+/-17.1 (p < 0,0001). There was no correlation between FSS and serum ferritin level at W12 (p=0.54) or between serum ferritin at W12 and difference between FSS at W0 and W12 (p=0.58). There were six mild adverse events (24%): asthenia (8%), nausea (8%), headache (4%), local pain (4%); and no serious adverse events. Our results suggest the rapid efficacy of intravenous iron in improving fatigue in iron deficiency without anaemia with a good profile of tolerance.

Introduction/objectives: The aim of our study was to investigate possible differences in nailfold videocapillaroscopy (NVC) features between patients with dermatomyositis (DM), overlap myositis (OM), antisynthetase syndrome (ASS), and immune-mediated necrotizing myopathy (IMNM)., Methods: We performed a cross-sectional monocentric study. All patients with inflammatory myopathies (IMs) over a 6-month period were analyzed by NVC for giant and ramified capillaries, tortuosities, capillary density, disorganization, and scleroderma pattern. Clinical, biological, and pathological characteristics were retrospectively recorded. Patients were classified as having DM, OM, ASS, or IMNM for comparison. Patients were also compared with a group of patients with systemic sclerosis (SSc)., Results: NVC was analyzed in DM (n = 17), OM (n = 8), ASS (n = 12), and IMNM (n = 6). Vascular disorganization and avascular zones were observed only in DM (11.8%) and OM (62.5%). The percentage of patients with giant capillaries was higher in OM (n = 4/8) than in DM (n = 3/17) and absent in ASS and IMNM. Frequency of ramified capillaries, tortuosities, hemorrhages, or thrombosis was not different between subgroups. A scleroderma pattern was only observed in OM patients., Conclusion: In this limited series of patients, we observed that DM and OM NVC abnormalities are different from ASS and IMNM. We could not determine NVC specific patterns associated with myositis-specific antibody subtypes of DM because of the small number of patients.Key Points• Nailfold videocapillaroscopy abnormalities are different in subgroups of inflammatory myopathies.• Giant capillaries, disorganization, and major capillary loss are observed in overlap myositis and dermatomyositis but not in antisynthetase syndrome (ASS) or immune-mediated necrotizing myopathy.• Nailfold videocapillaroscopy abnormalities in overlap myositis (with the exclusion of ASS) are close to systemic sclerosis.

Introduction: Glycoprotein IIb/IIIa inhibitors (anti-GPIIbIIIa) prevent platelet binding to fibrinogen. Transient sometimes-severe thrombocytopenia is a well-known side effect., Observation: A 71-year-old patient presented severe thrombocytopenia after the administration of tirofiban (anti-GPIIbIIIa). Corticosteroid treatment was initiated at day 10 because of persistence of severe thrombocytopenia with poor platelet transfusion efficacy. Corticosteroid treatment led to platelet recovery evoking an immune mediated mechanism for thrombocytopenia., Conclusion: Anti-GPIIbIIIa are associated with a risk of dramatic thrombocytopenia. The underlying mechanism is poorly understood. The management of these usually transient thrombocytopenias is based on platelet transfusion. As report here, in some cases persistent thrombocytopenia can respond to corticosteroids., (Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.)