Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy causally linked to reduced numbers (<= 8) of 3.3 kilobase D4Z4 tandem repeats at 4q35. However, because individuals carrying D4Z4-reduced alleles and no FSHD and patients with FSHD and no short allele have been observed, additional markers have been proposed to support an FSHD molecular diagnosis. In particular a reduction in the number of D4Z4 elements combined with the 4A(159/161/168)PAS haplotype (which provides the possibility of expressing DUX4) is currently used as the genetic signature uniquely associated with FSHD. Here, we analyzed these DNA elements in more than 800 Italian and Brazilian samples of normal individuals unrelated to any FSHD patients. We find that 3% of healthy subjects carry alleles with a reduced number (4-8) of D4Z4 repeats on chromosome 4q and that one-third of these alleles, 1.3%, occur in combination with the 4A161PAS haplotype. We also systematically characterized the 4q35 haplotype in 253 unrelated FSHD patients. We find that only 127 of them (50.1%) carry alleles with 1-8 D4Z4 repeats associated with 4A161PAS, whereas the remaining FSHD probands carry different haplotypes or alleles with a greater number of D4Z4 repeats. The present study shows that the current genetic signature of FSHD is a common polymorphism and that only half of FSHD probands carry this molecular signature. Our results suggest that the genetic basis of FSHD, which is remarkably heterogeneous, should be revisited, because this has important implications for genetic counseling and prenatal diagnosis of at-risk families.

Physical and psychosocial risk factors for musculoskeletal disorders in Brazilian and Italian nurses

As part of the international CUPID investigation, we compared physical and psychosocial risk factors for musculoskeletal disorders among nurses in Brazil and Italy. Using questionnaires, we collected information on musculoskeletal disorders and potential risk factors from 751 nurses employed in public hospitals. By fitting country-specific multiple logistic regression models, we investigated the association of stressful physical activities and psychosocial characteristics with site-specific and multisite pain, and associated sickness absence. We found no clear relationship between low back pain and occupational lifting, but neck and shoulder pain were more common among nurses who reported prolonged work with the arms in an elevated position. After adjustment for potential confounding variables, pain in the low back, neck and shoulder, multisite pain, and sickness absence were all associated with somatizing tendency in both countries. Our findings support a role of somatizing tendency in predisposition to musculoskeletal disorders, acting as an important mediator of the individual response to triggering exposures, such as work-load.

Guidelines for the Brazilian ceramic sector strategic development, based on a comparison with the Italian market

Based on a structured literature review, the ceramic tiles sector of Italy (benchmark) and Brazil (2nd world producer and consumer) are compared, under four strategic factors: normative, market, technology and strategic management, in order to identify critical risks for a national strategic sector. The document aims to propose guidelines for a strategic re-planning of the Brazilian ceramic tiles sector, making the Brazilian producers aware of the national market fragility (in spite of its recent remarkable evolution) and helping the policy makers to reflect on the need of reviewing the strategic planning methods and practice, of designing new targeted programs (based on coherence between operation and business strategies), of providing improved management to strengthen the sector against unfair competition by low-cost producers, enhancing the necessary infrastructure in technology, work, marketing and quality management. The analysis is limited to the single-firing production technology. The wide-coverage strategic analysis of the Brazilian ceramic tiles sector, very little studied until now in a scientific way, emphasizes the importance of applying research methodology and may be valuable to both scholars and practitioners. Additionally, it highlights the need of investments in innovation (product design and production technology) and the fundamental role of the sector organization, identifying different dimensions. It is possible to conclude that the recent Brazilian production growth is not due to a natural strengthening because of the hit of the sector and of correct enterprises strategy, but it seems the result of a temporary and favorable economic contingency.

Diagnostic value of serum activin A and follistatin levels in women with peritoneal, ovarian and deep infiltrating endometriosis

Activin A is a growth factor, produced by the endometrium, whose actions are modulated by the binding protein follistatin. Both proteins are detectable in the peripheral serum and their concentrations may be increased in women with endometriosis. The present study was designed to evaluate whether serum levels of activin A and follistatin are altered, and therefore have a potential diagnostic value, in women with peritoneal, ovarian and deep infiltrating endometriosis. We performed a multicenter controlled study evaluating simultaneously serum activin A and follistatin concentrations in women with and without endometriosis. Women with endometriosis (n 139) were subdivided into three groups: peritoneal endometriosis (n 28); ovarian endometrioma (n 61) and deep infiltrating endometriosis (n 50). The control group (n 75) consisted of healthy women with regular menstrual cycles. Blood samples were collected from a peripheral vein and assayed for activin A and follistatin using commercially available enzyme immunoassay kits. The ovarian endometrioma group had serum activin A levels significantly higher than healthy controls (0.22 0.01 ng/ml versus 0.17 0.01 ng/ml, P 0.01). None of the endometriosis groups had serum follistatin levels which were significantly altered compared with healthy controls; however, levels found in the endometrioma group (2.34 0.32 ng/ml) were higher than that in the deep endometriosis group (1.50 0.17 ng/ml, P 0.05). The area under the receiver operating characteristic curve of activin A was 0.700 (95 confidence interval: 0.6050.794), while that of follistatin was 0.620 (95 confidence interval: 0.5100.730) for the diagnosis of ovarian endometrioma. The combination of both markers into a duo marker index did not improve significantly their diagnostic accuracy. The present study demonstrated that serum activin A and follistatin are not significantly altered in peritoneal or deep infiltrating endometriosis and have limited diagnostic accuracy in the diagnosis of ovarian endometrioma.

Is there a relationship between the total volume of load lifted in bench press exercise and the rating of perceived exertion?

Aim. The purpose of the study was to investigate the relationship between the total volume of load lifted (TVLL) and the rating of perceived exertion (RPE) measures during different resistance training (RT) schemes using the bench press exercise. Methods. The present study was divided into two experiments. In the first experiment, 18 healthy men performed three different RT schemes: a strength oriented scheme (SS), a muscular endurance oriented scheme (ES) and a hypertrophy oriented scheme (HS). TVLL was calculated for each scheme. Mean-RPE and session-RPE were assessed. In the second experiment, 23 men performed two resistance exercise bouts at different intensities (50 %-1RM and 75%-1RM) with matched TVLL. Mean-RPE and session-RPE were also assessed. Results. SS and HS showed higher TVLL and greater RPE scores as compared to ES (P<0.05). No significant difference was observed between SS and HS. It was verified significant positive correlations between TVLL and session-RPE (SS r=0.63, HS r=0.64, ES r=0.56; P<0.05), and between mean-RPE and TVLL (SS r=0.55, HS r=0.52, ES r=0.47; P<0.05) for all schemes. No differences were observed for mean-RPE, session-RPE and TVLL between the 50%-1RM and 75%1RM. Significant positive relationships between TVLL and session-RPE (50 %-1RM r=0.61, 75 %-1RM r=0.66; p<0.05) and between TVLL and mean-RPE (50 %-1RM r=0.51, 75%1RM r=0.49; P<0.05) were observed. Conclusion. The results of this study have shown that the TVLL in RT influences RPE measures. These findings corroborates the existence of a relationship between total work performed (external training load) and perception of effort (internal training load).

Extrinsic Purinergic Regulation of Neural Stem/Progenitor Cells: Implications for CNS Development and Repair

There has been tremendous progress in understanding neural stem cell (NSC) biology, with genetic and cell biological methods identifying sequential gene expression and molecular interactions guiding NSC specification into distinct neuronal and glial populations during development. Data has emerged on the possible exploitation of NSC-based strategies to repair adult diseased brain. However, despite increased information on lineage specific transcription factors, cell-cycle regulators and epigenetic factors involved in the fate and plasticity of NSCs, understanding of extracellular cues driving the behavior of embryonic and adult NSCs is still very limited. Knowledge of factors regulating brain development is crucial in understanding the pathogenetic mechanisms of brain dysfunction. Since injury-activated repair mechanisms in adult brain often recapitulate ontogenetic events, the identification of these players will also reveal novel regenerative strategies. Here, we highlight the purinergic system as a key emerging player in the endogenous control of NSCs. Purinergic signalling molecules (ATP, UTP and adenosine) act with growth factors in regulating the synchronized proliferation, migration, differentiation and death of NSCs during brain and spinal cord development. At early stages of development, transient and time-specific release of ATP is critical for initiating eye formation; once anatomical CNS structures are defined, purinergic molecules participate in calcium-dependent neuron-glia communication controlling NSC behaviour. When development is complete, some purinergic mechanisms are silenced, but can be re-activated in adult brain after injury, suggesting a role in regeneration and self-repair. Targeting the purinergic system to develop new strategies for neurodevelopmental disorders and neurodegenerative diseases will be also discussed.

Postactivation potentiation: effect of various recovery intervals on bench press power performance

Ferreira, SLA, Panissa, VLG, Miarka, B, and Franchini, E. Postactivation potentiation: effect of various recovery intervals on bench press power performance. J Strength Cond Res 26(3): 739-744, 2012-Postactivation potentiation (PAP) is a strategy used to improve performance in power activities. The aim of this study was to determine if power during bench press exercise was increased when preceded by 1 repetition maximum (1RM) in the same exercise and to determine which time interval could optimize PAP response. For this, 11 healthy male subjects (age, 25 +/- 4 years; height, 178 +/- 6 cm; body mass, 74 +/- 8 kg; bench press 1RM, 76 +/- 19 kg) underwent 6 sessions. Two control sessions were conducted to determine both bench press 1RM and power (6 repetitions at 50% 1RM). The 4 experimental sessions were composed of a 1RM exercise followed by power sets with different recovery intervals (1, 3, 5, and 7 minutes), performed on different days, and determined randomly. Power values were measured via Peak Power equipment (Cefise, Nova Odessa, Sao Paulo, Brazil). The conditions were compared using an analysis of variance with repeated measures, followed by a Tukey test. The significance level was set at p < 0.05. There was a significant increase in PAP in concentric contractions after 7 minutes of recovery compared with the control and 1-minute recovery conditions (p < 0.05). Our results indicated that 7 minutes of recovery has generated an increase in PAP in bench press and that such a strategy could be applied as an interesting alternative to enhance the performance in tasks aimed at increasing upper-body power performance.

Work ability among hospital food service professionals: multiple associated variables require comprehensive intervention

The work of hospital food service is characterized by demands that can be associated with work ability - WA. The aim of this study was to evaluate factors associated with WA among hospital food service professionals and recommend intervention measures. This is a cross sectional study carried out in 2009, conducted in a hospital of Sao Paulo, Brazil. Participants were 76 (96.2%) of the eligible. They filled out a questionnaire including socio-demographic data, life styles, working conditions and WA. Multivariate linear regression analyses were performed. Factors associated with WA were age (p=0.051), over commitment (p=0.011), effort-reward ratio (p=0.002) and work injuries (p<0.001). In spite was a young population, age was associated with WA. Association with work injuries is consistent with the theoretical model that demonstrated that health status is the basis to maintain the WA. The association of effort-reward imbalance shows that issues related with work organization are relevant for these workers. The association of overcommittment suggests that workers recognize their responsibility with the therapeutic processes of patients. Results showed a number of features of different nature that should be taken into account when implementing measures to improve the WA, to be applied at different levels: individual, task and institutional.