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Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding fibrillin-1 (FBN1), a matrix component of microfibrils. Dural ectasia, i.e. enlargement of the neural canal mainly located in the lower lumbar and sacral region, frequently occurs in Marfan patients. The aim of our study was to investigate the role of dural ectasia in raising the diagnosis of Marfan syndrome and its association with FBN1 mutations. We studied 40 unrelated patients suspected for MFS, who underwent magnetic resonance imaging searching for dural ectasia. In all of them FBN1 gene analysis was also performed. Thirty-seven patients resulted affected by Marfan syndrome according to the '96 Ghent criteria; in 30 of them the diagnosis was confirmed when revaluated by the recently revised criteria (2010). Thirty-six patients resulted positive for dural ectasia. The degree of dural ectasia was grade 1 in 19 patients, grade 2 in 11 patients, and grade 3 in 6 patients. In 7 (24%) patients, the presence of dural ectasia allowed to reach a positive score for systemic feature criterion. Twenty-four patients carried an FBN1 mutation, that were represented by 13 missense (54%), and 11 (46%) mutations generating a premature termination codon (PTC, frameshifts and stop codons). No mutation was detected in the remaining 16 (6 patients with MFS and 10 with related disorders according to revised Ghent criteria). The prevalence of severe (grade 2 and grade 3) involvement of dura mater was higher in patients harbouring premature termination codon (PTC) mutations than those carrying missense-mutations (8/11 vs 2/13, P = 0.0111). Our data emphasizes the importance of dural ectasia screening to reach the diagnosis of Marfan syndrome especially when it is uncertain and indicates an association between PTC mutations and severe dural ectasia in Marfan patients., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Osteoporosis is a systemic disease with reduced bone mass and qualitative alterations of the bone, associated to increased risk of fracture. Pathogenesis of osteoporosis fractures is multifactorial. Main risk factor is falls (except for vertebral fragility fractures which occurs often in absence of trauma). Aging by itself produces physiological changes: muscular hypotrophy with asthenia, deficit of visus and hearing together with associated pathologies and multi-drug therapies. In osteoporosis patients with vertebral fractures posture change occurs which reduces balance. After clinical postural evaluation it is possible to carry out instrumental evaluation of posture with computerized methods such as stabilometry, baropodometry, dynanometry and gait analysis. Examination carried out with use of stabilometric computerized platform allows stabilometric (body sway assessment) as well as posturometric examination (center of pressure assessment during quiet standing). Fundamental parameters obtained are: position of the body center of gravity, area and shape of sway density curve and velocity variables. Protocol of evaluation includes assessment of examination in standard condition and in condition of temporary sensorial deprivation (to investigate the influence of various afferent systems on the maintenance of posture and balance). Accurate evaluation of postural control in osteoporosis patients constitutes a fundamental tool in fracture risk evaluation due to fall and in identification and correction of modifiable factors responsible for balance defect. This approach, together with adequate drug therapy, may lead to significant reduction of fractures in osteoporosis patients with subsequent reduction of hospitalization and residual consequent disabilities.

Vertebral fractures occur particularly in osteoporotic patients due to an increased bone fragility. Vertebral fractures influence the quality of life, mobility and mortality. Preventive training exercises and proprioception reeducation can be utilised for improving posture, balance and level of daily function and for decreasing pain. Quality of life is improved even beyond the active training period. This mini review provides information based on the literature for the rehabilitation of osteoporotic vertebral fractures after conservative or surgical treatment.