New mutations in the GLA gene in Brazilian families with Fabry disease

Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replacement trials and offering the possibility to perform prenatal diagnosis. Journal of Human Genetics (2012) 57, 347-351; doi:10.1038/jhg.2012.32; published online 3 May 2012

The workers role in knowledge management and sustainability policies

Based on the concepts of sustainability and knowledge management, this article seeks to identify points of contact between the two themes through an exploratory study of existing literature. The first objective is to find, in international literature, the largest number of papers jointly related to the theme of knowledge management and sustainability. In these documents, the authors looked at the kind of relationship existing between the two themes and what the benefits introduced in organizations are. Based on an ergonomic point of view, the second objective of this article is to analyze the role of the worker (whether at the strategic or operational level) and his importance in this context. The results demonstrate that there is very little literature that addresses the two themes together. The few papers found, however, can be said to show the many advantages of introducing sustainability policies supported by adequate knowledge management. Very little has been studied with regards to the role of workers, which could be interpreted as meaning that little importance is given to the proactive role they may play. On the other hand, there is a high potential for future research in these areas, based on the high level of consideration of workers in knowledge management and sustainability literature, as well as in literature in the areas of ergonomics and sociology.

Bioelectrical impedance vector analysis (BIVA) in stable preterm newborns

Objective: To observe the behavior of the plotted vectors on the RXc (R - resistance - and Xc - reactance corrected for body height/length) graph through bioelectrical impedance analysis (BIVA) and phase angle (PA) values in stable premature infants, considering the hypothesis that preterm infants present vector behavior on BIVA suggestive of less total body water and soft tissues, compared to reference data for term infants. Methods: Cross-sectional study, including preterm neonates of both genders, in-patients admitted to an intermediate care unit at a tertiary care hospital. Data on delivery, diet and bioelectrical impedance (800 mA, 50 kHz) were collected. The graphs and vector analysis were performed with the BIVA software. Results: A total of 108 preterm infants were studied, separated according to age (< 7 days and >= 7 days). Most of the premature babies were without the normal range (above the 95% tolerance intervals) existing in literature for term newborn infants and there was a tendency to dispersion of the points in the upper right quadrant, RXc plan. The PA was 4.92 degrees (+/- 2.18) for newborns < 7 days and 4.34 degrees (+/- 2.37) for newborns >= 7 days. Conclusion: Premature infants behave similarly in terms of BIVA and most of them have less absolute body water, presenting less fat free mass and fat mass in absolute values, compared to term newborn infants.

Adalimumab induced-inflammatory myopathy in rheumatoid arthritis

The application of immunobiologics for the rheumatoid arthritis treatment may present as a rare complication the development of inflammatory myopathy. Until this moment, there have been described in literature only seven cases of inhibitors of tumor necrosis factor induced-myositis. In this paper, we report the case of the patient with 39 years-old with eight years of arthritis rheumatoid and that due to refractory to various immunosuppressive drugs, the adalimumab was introduced, and evolved to dermatomyositis status.

Extensive cross-talk and global regulators identified from an analysis of the integrated transcriptional and signaling network in Escherichia coli

To understand the regulatory dynamics of transcription factors (TFs) and their interplay with other cellular components we have integrated transcriptional, protein-protein and the allosteric or equivalent interactions which mediate the physiological activity of TFs in Escherichia coli. To study this integrated network we computed a set of network measurements followed by principal component analysis (PCA), investigated the correlations between network structure and dynamics, and carried out a procedure for motif detection. In particular, we show that outliers identified in the integrated network based on their network properties correspond to previously characterized global transcriptional regulators. Furthermore, outliers are highly and widely expressed across conditions, thus supporting their global nature in controlling many genes in the cell. Motifs revealed that TFs not only interact physically with each other but also obtain feedback from signals delivered by signaling proteins supporting the extensive cross-talk between different types of networks. Our analysis can lead to the development of a general framework for detecting and understanding global regulatory factors in regulatory networks and reinforces the importance of integrating multiple types of interactions in underpinning the interrelationships between them.

Social Mobilization in Health and Sanitation in an Action Research Process in an Indigenous Community in Northwestern Amazon

The living conditions of the inhabitants of Iauarete, an indigenous area in the municipality of Sao Gabriel da Cachoeira, State of Amazonas (Northern Brazil), have been negatively affected by population density, poor sanitation and maintenance of sanitation practices that are incompatible with that reality. To improve the population's quality of life, sanitation systems that are adequate to the local socio-cultural characteristics should be implemented, as well as educational processes with emphasis on social mobilization and community empowerment. The aim of this paper is to report and discuss a training course on health and sanitation using action research, directed to the mobilization of the Iauarete indigenous people, with the objective of assisting other studies of this nature. In the meetings, issues related to environmental health were discussed, a Community Newspaper was constructed, the course participants made interviews and drew up claims documents. This experience has enhanced the participants' understanding of local problems and of the importance of social mobilization for the dialogue with governmental institutions that are responsible for providing sanitation services and for seeking better living conditions. The researchers and teachers of the training course benefitted from the construction of collective knowledge resulting from interaction with subjects of the investigated situation and from the recognition and redefinition of their representations, fulfilling the fundamental premise of action research.

Ambulatory blood pressure monitoring in children with obstructive sleep apnea and primary snoring

Objective: To evaluate the systemic blood pressure (BP) during daytime and nighttime in children with sleep breathing disorders (SBD) and compare parameters of BP in children with diagnosis of obstructive sleep apnea syndrome (OSA) to those one with primary snoring (PS). Methods: Children, both genders, aged from 8 to 12 years, with symptoms of SBD realized an overnight polysomnography followed by a 24 h recording of ambulatory BP. Results: All subjects presented with a history of snoring 7 nights per week. Children who have apnea/hipoapnea index >= four or a apnea index >= one presented a mean BP of 93 +/- 7 mmHg and 85 +/- 9 mmHg diurnal and nocturnal respectively whereas children who have a apnea/hipoapnea < four or a apnea index < one presented 90 +/- 7 mmHg and 77 +/- 2 mmHg. Eight children out of fourteen, from OSA group, lost the physiologic nocturnal dipping of the blood pressure. Among OSA children 57% were considered non-dippers. Two (16%) have presented absence of nocturnal dipping among children with primary snoring. The possibility of OSA children loosing physiologic blood pressure dipping was 6.66 higher than the possibilities of patients from PS group. Discussion: Our results indicate that children with sleep apnea syndrome exhibit a higher 24 h blood pressure when compared with those of primary snoring in form of decreased degree of nocturnal dipping and increased levels of diastolic and mean blood pressure, according to previous studies in literature. OSA in children seems to be associated to the development of hypertension or other cardiovascular disease. (C) 2012 Elsevier Ireland Ltd. All rights reserved.