An inertial sensor-based system for spatio-temporal analysis in classic cross-country skiing diagonal technique.

The present study proposes a method based on ski fixed inertial sensors to automatically compute spatio-temporal parameters (phase durations, cycle speed and cycle length) for the diagonal stride in classical cross-country skiing. The proposed system was validated against a marker-based motion capture system during indoor treadmill skiing. Skiing movement of 10 junior to world-cup athletes was measured for four different conditions. The accuracy (i.e. median error) and precision (i.e. interquartile range of error) of the system was below 6ms for cycle duration and ski thrust duration and below 35ms for pole push duration. Cycle speed precision (accuracy) was below 0.1m/s (0.005m/s) and cycle length precision (accuracy) was below 0.15m (0.005m). The system was sensitive to changes of conditions and was accurate enough to detect significant differences reported in previous studies. Since capture volume is not limited and setup is simple, the system would be well suited for outdoor measurements on snow.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes. © 2015 American Society for Bone and Mineral Research.

Riqueza y rareza de los insectos acuáticos de la laguna temporal de Espolla (Pla de l’Estany, Cataluña)

The richness and rarity of an insect community were analysed in a Mediterranean temporary pond located in NE of the Iberian Peninsula. The aquatic community was sampled weekly over 7 periods of flooding during y years (1996-1999). Distribution of rare species (with scarce presence at regional or peninsular levels, is detailed. The richness of the Espolla pond has been compared with that of other aquatic environments. The number of rare species of insects (8 taxa: 5 Corixidae, 1 Limnephilidae and 2 Chironomidae) and the insect richness (82 taxa) contrast with the traditional attribution of a low richness and rarity to the temporary aquatic environments

Galanin pathogenic mutations in temporal lobe epilepsy.

Temporal lobe epilepsy (TLE) is a common epilepsy syndrome with a complex etiology. Despite evidence for the participation of genetic factors, the genetic basis of TLE remains largely unknown. A role for the galanin neuropeptide in the regulation of epileptic seizures has been established in animal models more than two decades ago. However, until now there was no report of pathogenic mutations in GAL, the galanin-encoding gene, and therefore its role in human epilepsy was not established. Here, we studied a family with a pair of monozygotic twins affected by TLE and two unaffected siblings born to healthy parents. Exome sequencing revealed that both twins carried a novel de novo mutation (p.A39E) in the GAL gene. Functional analysis revealed that the p.A39E mutant showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2. These findings suggest that the p.A39E mutant could impair galanin signaling in the hippocampus, leading to increased glutamatergic excitation and ultimately to TLE. In a cohort of 582 cases, we did not observe any pathogenic mutations indicating that mutations in GAL are a rare cause of TLE. The identification of a novel de novo mutation in a biologically-relevant candidate gene, coupled with functional evidence that the mutant protein disrupts galanin signaling, strongly supports GAL as the causal gene for the TLE in this family. Given the availability of galanin agonists which inhibit seizures, our findings could potentially have direct implications for the development of anti-epileptic treatment.

Screening for cardiovascular disease risk and subsequent management in low and middle income countries : challenges and opportunities

Background: Cardiovascular disease (CVD), mainly heart attack and stroke, is the leading cause of premature mortality in low and middle income countries (LMICs). Identifying and managing individuals at high risk of CVD is an important strategy to prevent and control CVD, in addition to multisectoral population-based interventions to reduce CVD risk factors in the entire population. Methods: We describe key public health considerations in identifying and managing individuals at high risk of CVD in LMICs. Results: A main objective of any strategy to identify individuals at high CVD risk is to maximize the number of CVD events averted while minimizing the numbers of individuals needing treatment. Scores estimating the total risk of CVD (e.g. ten-year risk of fatal and non-fatal CVD) are available for LMICs, and are based on the main CVD risk factors (history of CVD, age, sex, tobacco use, blood pressure, blood cholesterol and diabetes status). Opportunistic screening of CVD risk factors enables identification of persons with high CVD risk, but this strategy can be widely applied in low resource settings only if cost effective interventions are used (e.g. the WHO Package of Essential NCD interventions for primary health care in low resource settings package) and if treatment (generally for years) can be sustained, including continued availability of affordable medications and funding mechanisms that allow people to purchase medications without impoverishing them (e.g. universal access to health care). This also emphasises the need to re-orient health systems in LMICs towards chronic diseases management.

Monitoring spatial and temporal dynamics of bird communities in Mediterranean landscapes affected by largewildfires = Seguimiento de la dinámica espacial y temporal de comunidades de aves en paisajes mediterráneos afectados por grandes fuegos

We presented a bird-monitoring database inMediterranean landscapes (Catalonia, NE Spain) affected by wildfires and we evaluated: 1) the spatial and temporal variability in the bird community composition and 2) the influence of pre-fire habitat configuration in the composition of bird communities. The DINDIS database results fromthemonitoring of bird communities occupying all areas affected by large wildfires in Catalonia since 2000.We used bird surveys conducted from 2006 to 2009 and performed a principal components analysis to describe two main gradients of variation in the composition of bird communities, which were used as descriptors of bird communities in subsequent analyses. We then analysed the relationships of these community descriptors with bioclimatic regions within Catalonia, time since fire and pre-fire vegetation (forest or shrubland).We have conducted 1,918 bird surveys in 567 transects distributed in 56 burnt areas. Eight out of the twenty most common detected species have an unfavourable conservation status, most of them being associated to open-habitats. Both bird communities’ descriptors had a strong regional component and were related to pre-fire vegetation, and to a lesser extent to the time since fire.We came to the conclusion that the responses of bird communities to wildfires are heterogeneous, complex and context dependent. Large-scale monitoring datasets, such as DINDIS, might allow identifying factors acting at different spatial and temporal scales that affect the dynamics of species and communities, giving additional information on the causes under general trends observed using other monitoring systems

Qualitative, quantitative and temporal study of cutting agents for cocaine and heroin over 9 years

Forensic laboratories mainly focus on the qualification and the quantitation of the illicit drug under analysis as both aspects are used for judiciary purposes. Therefore, information related to cutting agents (adulterants and diluents) detected in illicit drugs is limited in the forensic literature. This article discusses the type and frequency of adulterants and diluents detected in more than 6000 cocaine specimens and 3000 heroin specimens, confiscated in western Switzerland from 2006 to 2014. The results show a homogeneous and quite unchanging adulteration for heroin, while for cocaine it could be characterised as heterogeneous and relatively dynamic. Furthermore, the results indicate that dilution affects more cocaine than heroin. Therefore, the results provided by this study tend to reveal differences between the respective structures of production or distribution of cocaine and heroin. This research seeks to promote the systematic analysis of cutting agents by forensic laboratories. Collecting and processing data related to the presence of cutting agents in illicit drug specimens produces relevant information to understand and to compare the structure of illicit drug markets.

Spatio-temporal image correlation (STIC): nova técnica para avaliação do coração fetal

As malformações cardíacas são as mais freqüentes anomalias congênitas ao nascimento, entretanto, a sua detecção pré-natal pela ultra-sonografia convencional permanece baixa. As ultra-sonografias de terceira e quarta dimensões surgiram no início da década de 90, apresentando grandes aplicações em obstetrícia, principalmente nos casos de diagnósticos duvidosos à ultra-sonografia bidimensional. O spatio-temporal image correlation (STIC) representa grande avanço na área de ultra-som de quarta dimensão; constitui-se em um software acoplado ao aparelho Voluson 730 Expert, que permite a aquisição volumétrica do coração fetal e suas conexões vasculares. As análises volumétricas são realizadas nos modos multiplanar e de renderização, podendo-se também utilizar o Doppler. Apresenta, como grandes vantagens, a aquisição rápida e a possibilidade de análise posterior por especialistas em ecocardiografia fetal. Pode ser aplicada para a pesquisa de quaisquer cardiopatias congênitas, pois permite a aquisição de qualquer plano, diferentemente do ultra-som bidimensional. Sua principal desvantagem está relacionada aos movimentos fetais. A maior difusão do método pode permitir um aumento na detecção de malformações cardíacas, pois possibilita ao ultra-sonografista geral encaminhar, via Internet, os volumes para a análise por especialistas em ecocardiografia fetal.

A New Symptom, 'Palinendophonia', Associated with Pure Verbal Palinacousis Induced by a Right Inferior Temporal Lesion.

We describe the case of a patient with pure verbal palinacousis and perseveration of inner speech after a right inferior temporal lesion. The superior temporal lobe, including the superior temporal sulcus and the interhemispheric connection between the 2 superior temporal lobes, explored by tractography, were preserved. These regions are involved in voice processing, verbal short-term memory and inner speech. It can then be hypothesised that abnormal activity in this network has occurred. Palinacousis and 'palinendophonia', a term proposed for this symptom not previously reported, may be due to common cognitive processes disorders involved in both voice hearing and inner speech.

Temporal Patterns of Alcohol Consumption and Alcohol-Related Road Accidents in Young Swiss Men: Seasonal, Weekday and Public Holiday Effects.

AIMS: To assess seasonal, weekday, and public holiday effects on alcohol-related road accidents and drinking diaries among young Swiss men. METHODS: Federal road accident data (35,485 accidents) from Switzerland and drinking diary data from a large cohort of young Swiss men (11,930 subjects) were analysed for temporal effects by calendar week, weekday and public holiday (Christmas, New Years, National Day). Alcohol-related accidents were analysed using rate ratios for observed versus expected numbers of accidents and proportions of alcohol-related accidents relative to the total number. Drinking diaries were analysed for the proportion of drinkers, median number of drinks consumed, and the 90th percentile's number of drinks consumed. RESULTS: Several parallel peaks were identified in alcohol-related accidents and drinking diaries. These included increases on Fridays and Saturdays, with Saturday drinking extending until early Sunday morning, an increase during the summer on workdays but not weekends, an increase at the end of the year, and increases on public holidays and the evening before. CONCLUSIONS: Our results suggest specific time-windows that are associated with increases in drinking and alcohol-related harm. Established prevention measures should be enforced during these time-windows to reduce associated peaks.

Attitudes and burden in relatives of patients with schizophrenia in a middle income country

BACKGROUND: Most studies of family attitudes and burden have been conducted in developed countries. Thus it is important to test the generalizability of this research in other contexts where social conditions and extended family involvement may be different. The aim of this study was to assess the relationship between the attitudes of caregivers and the burden they experience in such a context, namely Arica, a town located in the northernmost region of Chile, close to the border with Peru and Bolivia. METHODS: We assessed attitudes towards schizophrenia (including affective, cognitive and behavioural components) and burden (including subjective distress, rejection and competence) in 41 main caregivers of patients with schizophrenia, all of whom were users of Public Mental Health Services in Arica. RESULTS: Attitude measures differed significantly according to socio-demographic variables, with parents (mainly mothers) exhibiting a more negative attitude towards the environment than the rest of the family (t = 4.04; p = 0.000).This was also the case for caregivers with a low educational level (t = 3.27; p < 0.003), for the oldest caregivers (r = 0.546; p = 0.000) and for those who had spent more time with the patient (r = 0.377; p = 0.015). Although attitudes had significant association with burden, their explanatory power was modest (R2 = .104, F = 4,55; p = .039). CONCLUSIONS: Similar to finding developed countries, the current study revealed a positive and significant relationship between the attitudes of caregivers and their burden. These findings emphasize the need to support the families of patients with schizophrenia in this social context.

Social Support, Social and Temporal Comparisons Protect Well-Being and Health between 45 and 70 Years Old in Four Urban Communities

This study examined the impact of social support and of temporal and social comparisons on well-being and selfreported health in four capital cities: Paris, Berlin, Moscow and Beijing. Based on the lifespan control theory, an integrative model investigating the influence of these coping strategies, especially on the psychological regulation of health losses, was tested on 1141 respondents aged 45 to 70 years by using structural equation modelling with multigroup comparisons. Results indicated a good fit of the model to participants' responses. In all contexts, physical weaknesses favoured the use of social and temporal comparison strategies rather than social support. Moreover, across the cities, coping strategies were oriented more toward protecting self-evaluation of health than toward enhancement of well-being. Social comparison decreased the impact of physical weaknesses on health evaluation and on well-being in the four cities, but to a lesser extent in China. Results are discussed regarding the normative cross-cultural aspects that intervene during ageing in the four urban contexts.