When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score.

Size threshold for aortic surgery in bicuspid aortic valve (BAV) is debated. Connective tissue disorders (CTDs) are claimed as a clinical turning point, suggesting early surgery in BAV patients with CTD. Thus, we aimed at developing a score to detect high risk of carrying CTDs in consecutive BAVs from primary care. Ninety-eight BAVs without ectopia lentis or personal/family history of aortic dissection were studied at the Marfan syndrome Tuscany Referral Center. Findings were compared with those detected in 84 Marfan patients matched for sex and age. We selected traits with high statistical difference between MFS and BAV easily obtainable by cardiologists and primary-care internists: mitral valve prolapse, myopia ≥ 3DO, pectus carenatum, pes planus, wrist and thumb signs, and difference between aortic size at root and ascending aorta ≥ 4 mm. Clustering of ≥ 3 of these manifestations were more frequent in Marfan patients than in BAVs (71.4% vs 6.1%, p < 0.0001) resulting into an Odds Ratio to be affected by MFS of 38.3 (95% confidence intervals 14.8-99.3, p < 0.0001). We propose a score assembling simple clinical and echocardiographic variables resulting in an appropriate referral pattern of BAVs from a primary-care setting to a tertiary center to evaluate the presence of a potential, major CTD.

[Results of a vertebral deformity screening in the students of the district of Florence (Tuscany Region, Central Italy)]. / Risultati di uno screening per le deformità vertebrali tra gli studenti delle scuole del comune di Firenze.

OBJECTIVES: to observe the prevalence of vertebral deformities in an adolescent population in the 178 schools of the District of Florence (Tuscany Region, Central Italy), correlating these results with clinical aspects as ligamentous laxity and verifying if these data are in agreement with what emerged in literature in studies of the same type. DESIGN: prevalence study. SETTING AND PARTICIPANTS: report of the results of a school screening for vertebral deformities in an adolescent population of 11,820 students of the Schools of District of Florence held between November 2010 and June 2013. MAIN OUTCOMES MEASURES: asymmetry of waist triangle; trunk imbalance using plumb-line from C7; leg length discrepancies; presence of gibbus and measurement of Angle of Trunk Rotation using Bunnell scoliometer; measure of thoracic kyphosis (a value of kyphosis> 50° was considered to be at high risk of hyperkyphosis making it necessary to request an X-ray); ligamuentuos laxity using Beighton Score. RESULTS: 11,820 students were screened; 85.95% of them had no significant spinal deformities; 14,05% of the students showed significant clinical signs of scoliosis; 28.46% of the students had a thoracic hyperkyphosis (>40°), 1.55% of those presented a non-reducible thoracic hyperkyphosis. Results show a statistically significant correlation between the severity of the deformities and the score of the Beighton Score. CONCLUSIONS: the results confirm the association between vertebral deformities and ligament laxity. The prevalence of vertebral deformities in the school age population of the Municipality of Florence is 14.05%, in accordance with what emerged in the literature from similar studies.

Successful treatment of rotator cuff tear using Fascial Manipulation® in a stroke patient.

Rotator cuff tear is a common disease affecting patients after stroke. It's a cause of pain and dysfunction that may compromise normal stroke rehabilitation. For many cases there is still controversy between whether to use surgical or conservative intervention. Treatment for cuff tears range from physical therapy to surgery. This paper describes for the first time the effect of Fascial Manipulation® (FM®) on rotator cuff tear in a post stroke patient. A 69 year old female stroke patient with full absence of distal components of the tendons of the rotator cuff, functional limitations on active movement of shoulder flexion and abduction of the left arm and perceived pain scored 10/10 on the Visual Analogic Scale, was assessed and treat with one session of FM® A basic theory that explains the healing results of FM® is that mechanoreceptors, such as spindle cells and other receptors, are located in the deep fascia and activated when movement are performed. Increased viscosity of the deep fascia and muscles due to increased viscosity of hyaluronic acid (HA) molecules prevents the normal gliding of fascia during movement inhibiting normal proprioception and muscle function.

Lower limbs heterometry correction in patients with osteoporosis and increased risk of falls.

Osteoporotic fractures are associated with a significant increase in morbidity, mortality and medical costs. There is also a strong link between fractures and increased mortality. Among effective measures for the prevention of falls, instability treatment surely plays a crucial role. Several factors contribute to instability, many of which are ageing-related: visual spatial deficit, strength reduction, weight imbalance with COP lateralization sometimes favoured by LLD (leg length discrepancy). It seems useful to detect an heterometry which could be corrected, if present. The aim of our work is to assess the responses of individuals with heterometry diagnosis to the wedge positioning, using the balance board Lizard 3.0®. In the period between January 2013 and September 2013, 52 patients were recruited with clinical heterometry >5 mm among those that were treated in the Recovery and Rehabilitation Agency's postural clinic of the Careggi Hospital Orthopedic Trauma Centre in Florence. Our measurements have revealed that there is a statistically significant correlation (p<0.5) between clinical limb shortening expressed in mm and location of the weight imbalance at the stabilometric examination at T0; our data shows that the majority of patients with clinical heterometry shows a weight imbalance on the longer limb. After heterometry correction, 21 patients showed a statistically significant reduction (p<0,01) in weight imbalance expressed in kg between T0 and T1 and have been assigned to group 1, the remaining 31 worsened and have been assigned to group 2. From the results of our study, it is clear that the correction of lower limbs heterometry shouldn't be based only on clinical measuring of the limbs length discrepancy, even if very accurate.

A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?

The involvement of the musculoskeletal system with other mild pleiotropic manifestations represents a clinical criterion, called "systemic features," to d iagnose Marfan's syndrome. We aimed to investigate the features of the hands and feet redressable contractures present in a group of Marfan patients. In 13 patients with previously diagnosed Marfan's syndrome, an accurate clinical examination was performed. In particular the characterization of the musculoskeletal system by visual analogic scale to measure muscle pain (VAS) and muscle strength (MRC system) was carried out; the Beighton scale score was used to evaluate the articular hypermobility. Ultrasound examination (US) was performed to detect deep-superficial flexor tendons and extensor tendons of both hands, and the short and long flexor and extensor tendons of the fingers and toes in static and dynamic positions. The ImageJ program was adopted to measure a profile of tendon echo-intensity. A reduction of the thickness of all tendons was detected by US in our patients; the VAS and Beighton scale scores were in normal ranges. The profile of tendon echo-intensity showed different textural details in all Marfan patients. This study provides evidence for other contractures' localization, and for altered findings of the tendons in patients with Marfan syndrome and finger/toe contractures. These changes may be associated with structural modifications in connective tissue.

Conservative treatment of carpal tunnel syndrome: comparison between laser therapy and Fascial Manipulation(®).

The etiopathogenesis of Carpal Tunnel Syndrome (CTS) is multifactorial and most cases are classified as idiopathic (Thurston 2013). A randomized controlled trial was performed to compare the effectiveness of Fascial Manipulation(®) (FM) and Low-Level Laser Therapy (LLLT) for CTS. This prospective trial included 42 patients (70 hands with symptoms) with clinical and electroneuromyographic diagnosis of CTS. The patients were randomly assigned to receive multiple sessions of FM or multiple session of LLLT. The Visual Analogic Scale (VAS) and Boston Carpal Tunnel Questionnaire (BCTQ) were performed at baseline, end of treatment and after three months. The group that received FM showed a significant reduction in subjective pain perception and an increased function assessed by BCTQ at the end of the treatment and follow-up. The group that received LLLT showed an improvement in the BCTQ at the end of the treatment but the improvement level was not sustained at the three month follow-up. FM is a valid alternative treatment for CTS.

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

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.

Evaluation with stabilometric platform of balance disorders in osteoporosis patients. A proposal for a diagnostic protocol.

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.

Rehabilitation in osteoporotic vertebral fractures.

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.