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Purpose: The aim of the study was to compare bone mineral density (BMD) in the lumbar spine (LSBMD) and the femoral neck (FBMD) in male road cyclists (RC n = 39), mountain cyclists (MC n = 30) and controls (C n = 27) and to determine the factors associated with BMD in the same group of participants. Methods: BMD, fat mass (FM) and fat-free mass (FFM) were measured using DXA. Calcium intake (Cal), exercise energy expenditure (EEE) and energy availability (EA) were assessed using self-reported questionnaires. Samples for circulating hormones were also obtained. VO2max was estimated by a cycloergometric test. Results: After adjustment for body mass, in cyclists LSBMD (RC 0.98 ± 0.12; MC 0.98 ± 0.10 g/cm2) was significantly lower than in C (1.11 ± 0.10; p < .001), while FBMD resulted in no significant difference in cyclists compared to C (p = 0.213). EA (kcal/FFM/day) was different in cyclists and in C (p < .05). In C, EEE and EA were positively associated with LSBMD (R = 0.561, R = 0.656, respectively, p < .01), whereas only EA was associated with FBMD (R = 0.554, p < .05); a positive association between EA and FBMD was found in MC (R = 0.464, p < .05). A negative relationship between VO2max and LSBMD in RC (R = -0.418, p < .05) and a positive one between EEE and LSBMD in MC were found (R = 0.605, p < .001). CaI, free testosterone and cortisol were unrelated to BMD. Conclusion: Both the RC and MC had lower LSBMD than C, whereas no difference was found between the two groups of cyclists. The factors associated with BMD are manifold, vary in relation to the measurement site and are likely different in RC, MC and C.
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PURPOSE: Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating FGF23 produced by small mesenchymal tumors. Data on the real prevalence of the disease are lacking, with the knowledge of the disease mainly relying on case reports and small case series. No estimate is available on the prevalence of uncured TIO. METHODS: National multi-center, cross-sectional and retrospective study on persistent or recurrent cases of TIO followed in referral centers for bone diseases; systematic review of the published persistent and recurrent cases of TIO. Data from patients consecutively evaluated in referral Italian centers for bone diseases were collected; a PubMed search on persistent, recurrent and unoperable cases of TIO was carried out. RESULTS: Sixteen patients (mean age at diagnosis 52.5 ± 10.6 years) with persistent (n = 6, 37,5%), recurrent (n = 7, 43.7%) or not operable (n = 3, 18.8%) TIO were described. Delay in diagnosis (2.5 ± 1.3 years) was demonstrated. All patients experienced fragility fractures or pseudofractures and disabling bone and muscle pain. BMD was significantly reduced (mean T-score -2.7 ± 1.7 and -2.7 ± 0.9 at lumbar spine and femoral neck, respectively). Fourteen patients were maintained under therapy with phosphate salts and calcitriol, while in 2 patients therapy with burosumab, an anti-FGF23 antibody, was commenced. CONCLUSION: A significant number of patients with TIO remain either undiagnosed for tumor localization or tumor recur or persist after surgery. These patients with active disease represent possible candidates for burosumab treatment.
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Hipofosfatemia , Osteomalacia , Síndromes Paraneoplásicas , Estudos Transversais , Fatores de Crescimento de Fibroblastos/metabolismo , Humanos , Hipofosfatemia/tratamento farmacológico , Osteomalacia/complicações , Síndromes Paraneoplásicas/etiologia , Estudos RetrospectivosRESUMO
Oxidative stress (OS) is one of the most frequently recognized causes of ageing. Telomere erosion, defects in the DNA damage response and alterations in the nuclear architecture are also associated with premature ageing. The most severe premature ageing syndrome, Hutchinson-Gilford progeria syndrome (HGPS) is associated with alterations in nuclear shape resulting in the deregulation of lamin A/C. In this review we describe emerging data reporting the role of OS and antioxidant defence in progeroid syndromes focusing on HGPS. We explore precise antioxidant defence mechanisms and related drugs that may create a potential path out of the woods in this disease. Pathways regulated by Nuclear factor E2 related factor (Nrf2), by Nuclear Factor kappa B (NF-kB), and related to the Unfolded Protein Response (UPR) and Endoplasmic Reticulum (ER) stress are under investigation in HGPS patients for which the goal is a significant lifespan extension in particular by postponing atherosclerosis-related complications.
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Doenças Cardiovasculares , Progéria , Antioxidantes/metabolismo , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Núcleo Celular/genética , Núcleo Celular/metabolismo , Humanos , Estresse Oxidativo , Progéria/genética , Progéria/metabolismoRESUMO
Serum uric acid (SUA) has been associated with cardiovascular disease, but up to now whether SUA is an independent cardiovascular risk factor or merely a disease-related epiphenomenon remains still controversial. within the framework of the Verona Heart Study, we prospectively followed 703 subjects with angiographically demonstrated and clinically stable coronary artery disease between May 1996 and March 2007. At baseline, SUA levels were measured in all the patients. Genotype data of SCL2A9 rs7442295 polymorphism, which has been associated with SUA by genome-wide association studies, were available for 686 subjects (97.6%). After a median follow-up of 57 months, 116 patients (16.5%) had died, 83 (11.8%) because of cardiovascular causes. Patients with hyperuricemia, defined by SUA levels above the 75th percentile (≥0.41 mmol/L), had an increased total and cardiovascular mortality rate than those with SUA below this threshold level (23.3% vs 14.1%, Pâ¯=â¯0.048 and 19.4% vs 9.2%, Pâ¯=â¯0.001, respectively, by Kaplan-Meier with Log-Rank test). These associations were confirmed by Cox regression after adjustment for sex, age, other predictors of mortality, coronary revascularization, and drug therapies at discharge (hazard ratio for total mortality 1.87 [1.05-3.34], Pâ¯=â¯0.033; hazard ratio for cardiovascular mortality 2.09 [1.03-4.25], Pâ¯=â¯0.041). Although associated with SUA levels, rs7442295 polymorphism did not predict total or cardiovascular mortality. our data support that SUA may be a prognostic cardiovascular biomarker, predicting total and cardiovascular mortality in the setting of secondary prevention of coronary artery disease. On the other hand, SCL2A9 gene polymorphism, notwithstanding a clear influence on SUA levels, was not associated with mortality.
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Doença da Artéria Coronariana , Hiperuricemia , Doença da Artéria Coronariana/genética , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo Genético , Fatores de Risco , Ácido ÚricoRESUMO
OBJECTIVES AND METHODS: the current understanding of the interplay between cardiovascular (CV) risk and Covid-19 is grossly inadequate. CV risk-prediction models are used to identify and treat high risk populations and to communicate risk effectively. These tools are unexplored in Covid-19. The main objective is to evaluate the association between CV scoring systems and chest X ray (CXR) examination (in terms of severity of lung involvement) in 50 Italian Covid-19 patients. Results only the Framingham Risk Score (FRS) was applicable to all patients. The Atherosclerotic Cardiovascular Disease Score (ASCVD) was applicable to half. 62% of patients were classified as high risk according to FRS and 41% according to ASCVD. Patients who died had all a higher FRS compared to survivors. They were all hypertensive. FRS≥30 patients had a 9.7 higher probability of dying compared to patients with a lower FRS. We found a strong correlation between CXR severity and FRS and ASCVD (P < 0.001). High CV risk patients had consolidations more frequently. CXR severity was significantly associated with hypertension and diabetes. 71% of hypertensive patients' CXR and 88% of diabetic patients' CXR had consolidations. Patients with diabetes or hypertension had 8 times greater risk of having consolidations. CONCLUSIONS: High CV risk correlates with more severe CXR pattern and death. Diabetes and hypertension are associated with more severe CXR. FRS offers more predictive utility and fits best to our cohort. These findings may have implications for clinical practice and for the identification of high-risk groups to be targeted for the vaccine precedence.