Marfan syndrome (MS) is a dominant autosomal disease caused by mutations in chromosome 15, the locus controlling fibrillin 1 synthesis, and may exhibit skeletal, ocular, cardiovascular, and other manifestations. Pulse wave velocity (PWV) is used to measure arterial elasticity and stiffness and is related to the elastic properties of the vascular wall. Since the practice of exercise is limited in MS patients, it was of interest to analyze the acute effect of submaximal exercise on aortic distensibility using PWV and other hemodynamic variables in patients with MS with either mild or no aortic dilatation. PWV and physiological variables were evaluated before and after submaximal exercise in 33 patients with MS and 18 controls. PWV was 8.51 + or - 0.58 at rest and 9.10 + or - 0.63 m/s at the end of exercise (P = 0.002) in the group with MS and 8.07 + or - 0.35 and 8.98 + or - 0.56 m/s in the control group, respectively (P = 0.004). Comparative group analysis regarding PWV at rest and at the end of exercise revealed no statistically significant differences. The same was true for the group that used beta-blockers and the one that did not. The final heart rate was 10% higher in the control group than in the MS group (P = 0.01). Final systolic arterial pressure was higher in the control group (P = 0.02). PWV in MS patients with mild or no aortic dilatation did not differ from the control group after submaximal effort.

The stability of samples is crucial for getting reliable concentrations of many analytes, including lipid profile. Thus, the goal of this study was to analyze lipid profile under different storage and temperature conditions. This was a prospective study with 809 patients of both genders. Total cholesterol, triglycerides, high-density lipoprotein cholesterol, low density lipoprotein cholesterol and non-high-density lipoprotein were measured within 1 h from collection at room temperature, after 2-3 h of refrigeration (8°C) and after 4-5 h at room temperature. The processing time and storage conditions did not affect the analytes measured. These findings are important for multicenter studies, because of the difficulties related to centrifugation and freezing of samples immediately after collection.

Background: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. Objectives: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. Methods: Twenty-six patients were included in this study [17 females (age:

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