Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

<p>Abstract</p> <p>Background</p> <p>Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature.</p> <p>Case presentation</p> <p>We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis.</p> <p>Conclusions</p> <p>Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.</p

Even Between-Lap Pacing Despite High Within-Lap Variation During Mountain Biking

Purpose: Given the paucity of research on pacing strategies during competitive events, this study examined changes in dynamic high-resolution performance parameters to analyze pacing profiles during a multiple-lap mountain-bike race over variable terrain. Methods: A global-positioning-system (GPS) unit (Garmin, Edge 305, USA) recorded velocity (m/s), distance (m), elevation (m), and heart rate at 1 Hz from 6 mountain-bike riders (mean ± SD age = 27.2 ± 5.0 y, stature = 176.8 ± 8.1 cm, mass = 76.3 ± 11.7 kg, VO2max = 55.1 ± 6.0 mL · kg–1 . min–1) competing in a multilap race. Lap-by-lap (interlap) pacing was analyzed using a 1-way ANOVA for mean time and mean velocity. Velocity data were averaged every 100 m and plotted against race distance and elevation to observe the presence of intralap variation. Results: There was no significant difference in lap times (P = .99) or lap velocity (P = .65) across the 5 laps. Within each lap, a high degree of oscillation in velocity was observed, which broadly reflected changes in terrain, but high-resolution data demonstrated additional nonmonotonic variation not related to terrain. Conclusion: Participants adopted an even pace strategy across the 5 laps despite rapid adjustments in velocity during each lap. While topographical and technical variations of the course accounted for some of the variability in velocity, the additional rapid adjustments in velocity may be associated with dynamic regulation of self-paced exercise

Education policy as an act of white supremacy: whiteness, critical race theory and education reform

The paper presents an empirical analysis of education policy in England that is informed by recent developments in US critical theory. In particular, I draw on ‘whiteness studies’ and the application of Critical Race Theory (CRT). These perspectives offer a new and radical way of conceptualising the role of racism in education. Although the US literature has paid little or no regard to issues outside North America, I argue that a similar understanding of racism (as a multifaceted, deeply embedded, often taken-for-granted aspect of power relations) lies at the heart of recent attempts to understand institutional racism in the UK. Having set out the conceptual terrain in the first half of the paper, I then apply this approach to recent changes in the English education system to reveal the central role accorded the defence (and extension) of race inequity. Finally, the paper touches on the question of racism and intentionality: although race inequity may not be a planned and deliberate goal of education policy neither is it accidental. The patterning of racial advantage and inequity is structured in domination and its continuation represents a form of tacit intentionality on the part of white powerholders and policy makers. It is in this sense that education policy is an act of white supremacy. Following others in the CRT tradition, therefore, the paper’s analysis concludes that the most dangerous form of ‘white supremacy’ is not the obvious and extreme fascistic posturing of small neonazi groups, but rather the taken-for-granted routine privileging of white interests that goes unremarked in the political mainstream

Community syndicalism for the United States: preliminary observations on law and globalization in democratic production

two structural labor crises for developed economies: 1) The channeling of substantial investment into non-productive, paper commodities, reducing growth of production for use and therefore reducing available aggregate job creation; and 2) The continued exportation of industrial jobs to other lower cost jurisdictions, and outsourcing, automation, just-in-time production, and speed-ups associated with global supply chains. As a result, local communities and regional populations have destabilized and even collapsed with attendant social problems. One possible response is Community Syndicalism – local community finance and operating credit for industrial production combined with democratic worker ownership and control of production. The result would increase investment directly for production, retain jobs in existing population centers, promote job skilling, and retain tax bases for local services and income supporting local businesses, at the same time increasing support for authentic political democracy by rendering the exploitive ideology of the Public/Private distinction superfluous. Slowing job exportation may reduce the global race to the bottom of labor standards and differential wage rates reducing the return to producers of value and increasing the skew of income distribution undermining social wages and welfare worldwide. Community Syndicalism can serve as moral goal in an alternative production model focusing incentives on long term stability of jobs and community economic base

A multi-decade record of high quality fCO2 data in version 3 of the Surface Ocean CO2 Atlas (SOCAT)

The Surface Ocean CO2 Atlas (SOCAT) is a synthesis of quality-controlled fCO2 (fugacity of carbon dioxide) values for the global surface oceans and coastal seas with regular updates. Version 3 of SOCAT has 14.7 million fCO2 values from 3646 data sets covering the years 1957 to 2014. This latest version has an additional 4.6 million fCO2 values relative to version 2 and extends the record from 2011 to 2014. Version 3 also significantly increases the data availability for 2005 to 2013. SOCAT has an average of approximately 1.2 million surface water fCO2 values per year for the years 2006 to 2012. Quality and documentation of the data has improved. A new feature is the data set quality control (QC) flag of E for data from alternative sensors and platforms. The accuracy of surface water fCO2 has been defined for all data set QC flags. Automated range checking has been carried out for all data sets during their upload into SOCAT. The upgrade of the interactive Data Set Viewer (previously known as the Cruise Data Viewer) allows better interrogation of the SOCAT data collection and rapid creation of high-quality figures for scientific presentations. Automated data upload has been launched for version 4 and will enable more frequent SOCAT releases in the future. High-profile scientific applications of SOCAT include quantification of the ocean sink for atmospheric carbon dioxide and its long-term variation, detection of ocean acidification, as well as evaluation of coupled-climate and ocean-only biogeochemical models. Users of SOCAT data products are urged to acknowledge the contribution of data providers, as stated in the SOCAT Fair Data Use Statement. This ESSD (Earth System Science Data) “living data” publication documents the methods and data sets used for the assembly of this new version of the SOCAT data collection and compares these with those used for earlier versions of the data collection (Pfeil et al., 2013; Sabine et al., 2013; Bakker et al., 2014). Individual data set files, included in the synthesis product, can be downloaded here: doi:10.1594/PANGAEA.849770. The gridded products are available here: doi:10.3334/CDIAC/OTG.SOCAT_V3_GRID

The Decline of Remarriage: Evidence From German Village Populations in the Eighteenth and Nineteenth Centuries

Family reconstitution data for fourteen German village populations permit the examination of remarriage during the eighteenth and nineteenth cen turies. The results provide compelling evidence for a secular decline in the tenden cy to remarry. Pronounced age and sex differentials in the likelihood of remar riage were evident: widows were far less likely to remarry than widowers, and the probability of remarriage declined rapidly with age, particularly for women. The probability of remarriage was also inversely associated with the number and age of children. There were, however, no clear differences in either the probability of remarriage or its tendency to decline over time among major occupational groups. The decline in remarriage probabilities was caused in part by declines in adult mortality, which gradually raised the ages of surviving spouses to levels at which remarriage has historically been rather unlikely. However, age-specific marriage probabilities also declined, affecting both men and women and all oc cupational groups, suggesting the presence of a social change of wide scope. Some comments on possible factors contributing to the decline of remarriage are presented. The need for a comprehensive explanation of remarriage trends and differentials remains an important challenge for family historians.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/68212/2/10.1177_036319908501000103.pd

Influence of a montmorency cherry juice blend on indices of exercise-induced stress and upper respiratory tract symptoms following marathon running—a pilot investigation

Background: Prolonged exercise, such as marathon running, has been associated with an increase in respiratory mucosal inflammation. The aim of this pilot study was to examine the effects of Montmorency cherry juice on markers of stress, immunity and inflammation following a Marathon. Methods: Twenty recreational Marathon runners consumed either cherry juice (CJ) or placebo (PL) before and after a Marathon race. Markers of mucosal immunity secretory immunoglobulin A (sIgA), immunoglobulin G (IgG), salivary cortisol, inflammation (CRP) and self-reported incidence and severity of upper respiratory tract symptoms (URTS) were measured before and following the race. Results: All variables except secretory IgA and IgG concentrations in saliva showed a significant time effect (P < 0.01). Serum CRP showed a significant interaction and treatment effect (P < 0.01). The CRP increase at 24 and 48 h post-Marathon was lower (P < 0.01) in the CJ group compared to PL group. Mucosal immunity and salivary cortisol showed no interaction effect or treatment effect. The incidence and severity of URTS was significantly greater than baseline at 24 h and 48 h following the race in the PL group and was also greater than the CJ group (P < 0.05). No URTS were reported in the CJ group whereas 50 % of runners in the PL group reported URTS at 24 h and 48 h post-Marathon. Conclusions: This is the first study that provides encouraging evidence of the potential role of Montmorency cherries in reducing the development of URTS post-Marathon possibly caused by exercise-induced hyperventilation trauma, and/or other infectious and non-infectious factors

Reading Ronaldo: contingent whiteness in the football media

Ever since his introduction to the first-­-team at Manchester United FC, Cristiano Ronaldo Dos Santos Aveiro has been recognised as one of the footballing world’s most stand-­-out football players. In turn, Ronaldo has drawn the attention of scholars working across a number of disciplines. While sports economists and sociologists of sport, amongst others, have contributed to a growing literature about Ronaldo and the social implications of his on and off-­-field behaviour, few critical analyses have considered the racialised aspects of Ronaldo’s representations, or how audiences make sense of his racialised or ethnic identity. Using images of Ronaldo, which we presented to and discussed with self-­-identified physically active white British men, we explore what it is representations and audience interpretations of Ronaldo reveal about the complexities of white male identity formation. We do this to understand better how white male identities can be read and interpreted through and in the context of football. Facilitated by our conception of contingent whiteness, we argue that white British men’s interpretations of Ronaldo’s whiteness are inextricably linked to discourses of ‘race’, masculinities and football

Fine tuning of RFX/DAF-19-regulated target gene expression through binding to multiple sites in Caenorhabditis elegans

In humans, mutations of a growing list of regulatory factor X (RFX) target genes have been associated with devastating genetics disease conditions including ciliopathies. However, mechanisms underlying RFX transcription factors (TFs)-mediated gene expression regulation, especially differential gene expression regulation, are largely unknown. In this study, we explore the functional significance of the co-existence of multiple X-box motifs in regulating differential gene expression in Caenorhabditis elegans. We hypothesize that the effect of multiple X-box motifs is not a simple summation of binding effect to individual X-box motifs located within a same gene. To test this hypothesis, we identified eight C. elegans genes that contain two or more X-box motifs using comparative genomics. We examined one of these genes, F25B4.2, which contains two 15-bp X-box motifs. F25B4.2 expression in ciliated neurons is driven by the proximal motif and its expression is repressed by the distal motif. Our data suggest that two X-box motifs cooperate together to regulate the expression of F25B4.2 in location and intensity. We propose that multiple X-box motifs might be required to tune specific expression level. Our identification of genes with multiple X-box motifs will also improve our understanding of RFX/DAF-19-mediated regulation in C. elegans and in other organisms including humans

Effect of Saddle height on skin temperature measured in different days of cycling.

Infrared thermography can be useful to explore the effects of exercise on neuromuscular function. During cycling, it could be used to investigate the effects of saddle height on thermoregulation. The aim of this study was to examine whether different cycling postures, elicited by different knee flexion angles, could influence skin temperature. Furthermore, we also determined whether the reproducibility of thermal measurements in response to cycling differed in the body regions affected or not affected by saddle height. Sixteen cyclists participated in three tests of 45 min of cycling at their individual 50 % peak power output. Each test was performed in a different knee flexion position on the bicycle (20°, 30°, 40° knee flexion when the pedal crank was at 180°). Different knee angles were obtained by changing saddle height. Skin temperatures were determined by infrared thermography before, immediately after and 10 min after the cycling test, in 16 different regions of interest (ROI) in the trunk and lower limbs. Changes in saddle height did not result in changes in skin temperature in the ROI. However, lower knee flexion elicited higher temperature in popliteus after cycling than higher flexion (p = 0.008 and ES = 0.8), and higher knee flexion elicited lower temperature variation in the tibialis anterior than intermediate knee flexion (p = 0.004 and ES = 0.8). Absolute temperatures obtained good and very good intraday reproducibility in the different measurements (ICCs between 0.44 and 0.85), but temperature variations showed lower reproducibility (ICCs between 0.11 and 0.74). Different postures assumed by the cyclist due to different saddle height did not influence temperature measurements. Skin temperature can be measured on different days with good repeatability, but temperature variations can be more sensitive to the effects of an intervention