Abdi and colleagues reported important insights regarding the treatment history of non-severe hemophilia A (HA) patients, 1 including incidence of joint bleeds in a large, international, and multi-center non-severe HA cohort (the INSIGHT cohort). Repeated intraarticular bleeding episodes in hemophilia patients may lead to degenerative arthropathy, which is the most frequent complication in HA regardless of the degree of severity. Despite the interesting findings described on annualized bleeding rate in mild-to-moderate HA patients, the study by Abdi and colleagues did not provide information on the joint status. The early identification of joint damage is indeed crucial to prevent the progression to hemophilic arthropathy, and thus periodic monitorization of the joint status is recommended for non-severe HA patients. 2 However, subclinical intra-articular bleeds may be hardly noticeable by clinical examination, especially in milder forms of HA; hemarthrosis and abnormalities may not be present for many years after birth, joint health awareness is usually lower, and most clinical evidence is generally extrapolated from severe patients' data. 3Diagnostic imaging is necessary to identify subtle alterations, and MRI is the gold standard for joint evaluation. Nevertheless, access to this technique is limited and its low feasibility for regular or on-demand (OD) check-ups has led to the implementation of musculoskeletal ultrasound as a point-of-care technique, with several reports supporting its usefulness. 4 This has been associated with the development of Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US), 5 a scoring system which enables a low-cost and quick evaluation of the six major joints, namely left and right sided elbows (LE, RE), knees (LK, RK), and ankles (LA, RA). Here we report unpublished findings of a 28-adult male patient subset with moderate (n = 14) and mild (n = 14) HA, with median age of 42.5 [IQR 32-60.5] years (40.5 [IQR 30.0-49.0] and 51.0 [IQR 34.0-63.0] years for moderate and mild, respectively) from a previously performed cross-sectional study to assess joint status in Spain. 6Not surprisingly we found 19 patients non-subjected to any evaluation by imaging modalities over the last 12 months (85.7%
High-risk hematological malignancies are a privileged setting for infection by opportunistic microbes, with invasive mycosis being one of the most serious complications. Recently, genetic background has emerged as an unanticipated risk factor. For this reason, polymorphisms for genes encoding archetypal receptors involved in the opsonic and nonopsonic clearance of microbes, pentraxin-3 (PTX3) and Dectin-1, respectively, were studied and correlated with the risk of infection. Fungal, bacterial, and viral infections were registered for a group of 198 patients with high-risk hematological malignancies. Polymorphisms for the pentraxin-3 gene (PTX3) showed a significant association with the risk of fungal infection by Candida spp. and, especially, by Aspergillus spp. This link remained even for patients undergoing antifungal prophylaxis, thus demonstrating the clinical relevance of PTX3 in the defense against fungi. CLEC7A polymorphisms did not show any definite correlation with the risk of invasive mycosis, nor did they influence the expression of Dectin-1 isoforms generated by alternative splicing. The PTX3 mRNA expression level was significantly lower in samples from healthy volunteers who showed these polymorphisms, although no differences were observed in the extents of induction elicited by bacterial lipopolysaccharide and heat-killed Candida albicans, thus suggesting that the expression of PTX3 at the start of infection may influence the clinical outcome. PTX3 mRNA expression can be a good biomarker to establish proper antifungal prophylaxis in immunodepressed patients.
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