Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

This study aimed to elucidate the observed variable phenotypic expressivity associated with NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with NRXN1 exonic deletions described to date and by comprehensively reviewing all comparable copy number variants in all disease cohorts that have been published in the peer reviewed literature (30 separate papers in all). Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). These showed considerable overlap with previously reported NRXN1-deletion associated phenotypes in terms of both spectrum and frequency. However, we did not find evidence for an association between deletions involving the β-isoform of neurexin-1 and increased head size, as was recently published in four cases with a deletion involving the C-terminus of NRXN1. We identified additional rare copy number variants in 20% of cases. This study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders. The additional rare copy number variants identified may act as possible phenotypic modifiers as suggested in a recent digenic model of neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.

Accuracy of mucocutaneous leishmaniasis diagnosis using polymerase chain reaction: systematic literature review and meta-analysis

The diagnosis of mucocutaneous leishmaniasis (MCL) is hampered by the absence of a gold standard. An accurate diagnosis is essential because of the high toxicity of the medications for the disease. This study aimed to assess the ability of polymerase chain reaction (PCR) to identify MCL and to compare these results with clinical research recently published by the authors. A systematic literature review based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses: the PRISMA Statement was performed using comprehensive search criteria and communication with the authors. A meta-analysis considering the estimates of the univariate and bivariate models was performed. Specificity near 100% was common among the papers. The primary reason for accuracy differences was sensitivity. The meta-analysis, which was only possible for PCR samples of lesion fragments, revealed a sensitivity of 71% [95% confidence interval (CI) = 0.59; 0.81] and a specificity of 93% (95% CI = 0.83; 0.98) in the bivariate model. The search for measures that could increase the sensitivity of PCR should be encouraged. The quality of the collected material and the optimisation of the amplification of genetic material should be prioritised.

Superficial Acral Fibromyxoma involving the nail's apparatus. Case report and literature review.

Superficial Acral Fibromyxoma is a rare tumor of soft tissues. It is a relatively new entity described in 2001 by Fetsch et al. It probably represents a fibrohistiocytic tumor with less than 170 described cases. We bring a new case of SAF on the 5th toe of the right foot, in a 43-year-old woman. After surgical excision with safety margins which included the nail apparatus, it has not recurred (22 months of follow up). We carried out a review of the location of all SAF published up to the present day.

Pouvoir attractif des reines de la fourmi d 'Argentine, Iridomyrmex humilis (Mayr). Rôle de la polygynie et du statut physiologique des reines

The fecundity of queens of Iridomyrmex humilis (Mayr) as mesaured by an oviposition test in isolation was correlated with their weight, The relative attractiveness of queens to workers was not correlated with either their weight or fecundity. Comparison of these results with those on other ant species show that queens of I. humilis have a relatively low level of attractiveness. This low attractiveness may result from the high number of queens per nest in I .humilis. This hypothesis is supported by the comparison of the attractiveness of queens in experimental monogynous and polygynous colonies which showed that queens in monogynous colonies have a higher attractiveness to workers. As a consequence of their higher attractiveness, queens in monogynous colonies probably receive more food. This may partially explain the higher weight and fecundity of queens in monogynous colonies. These results are dicussed with regard to some implications of polygyny

Where do these bugs come from? Phenotypic structure ofTriatoma infestans populations after control interventions in the Argentine Chaco

House re-invasion by native triatomines after insecticide-based control campaigns represents a major threat for Chagas disease vector control. We conducted a longitudinal intervention study in a rural section (Area III, 407 houses) of Pampa del Indio, northeastern Argentina, and used wing geometric morphometry to compare pre-spray and post-spray (re-infestant bugs) Triatoma infestanspopulations. The community-wide spraying with pyrethroids reduced the prevalence of house infestation by T. infestans from 31.9% to < 1% during a four-year follow-up, unlike our previous studies in the neighbouring Area I. Two groups of bug collection sites differing in wing shape variables before interventions (including 221 adults from 11 domiciles) were used as a reference for assigning 44 post-spray adults. Wing shape variables from post-spray, high-density bug colonies and pre-spray groups were significantly different, suggesting that re-infestant insects had an external origin. Insects from one house differed strongly in wing shape variables from all other specimens. A further comparison between insects from both areas supported the existence of independent re-infestation processes within the same district. These results point to local heterogeneities in house re-infestation dynamics and emphasise the need to expand the geographic coverage of vector surveillance and control operations to the affected region.

Chaos and order in the contemporary city. The impact of urban spatial structure on population density and commuting distance in Barcelona, 1986-2001.

One of the criticisms leveled at the model of dispersed city found all over the world is its unarticulated, random, and undifferentiated nature. To check this idea in the Barcelona Metropolitan Region, we estimated the impact of the urban spatial structure (CBD, subcenters and transportation infrastructures) over the population density and commuting distance. The results are unfavorable to the hypothesis of the increasing destructuring of cities given that the explanatory capacity of both functions improves over time, both when other control variables are not included and when they are included.

Networks in Argentine agriculture: a multiple-case study approach

Argentina is among the four largest producers of soybeans, sunflower, corn, and wheat, among other agricultural products. Institutional and policy changes during the 1990s fostered the development of Argentine agriculture and the introduction of innovative process and product technologies (no-till, agrochemicals, GMO, GPS) and new investments in modern, large-scale sunflower and soybean processing plants. In addition to technological changes, a "quiet revolution" occurred in the way agricultural production was carried out and organized: from self-production or ownership agriculture to a contract-based agriculture. The objective of this paper is to explore and describe the emergence of networks in the Argentine crop production sector. The paper presents and describes four cases that currently represent about 50% of total grain and oilseed production in Argentina: "informal hybrid form", "agricultural trust fund", "investor-oriented corporate structure", and "network of networks". In all cases, hybrid forms involve a group of actors linked by common objectives, mainly to gain scale, share resources, and improve the profitability of the business. Informal contracts seem to be the most common way of organizing the agriculture process, but using short-term contracts and sequential interfirm collaboration. Networks of networks involve long-term relationships and social development, and reciprocal interfirm collaboration. Agricultural trust fund and investor-oriented corporate structures have combined interfirm collaboration and medium-term relationships. These organizational forms are highly flexible and show a great capacity to adapt to challenges; they are competitive because they enjoy aligned incentives, flexibility, and adaptability.

Pulsatile tinnitus caused by an aneurysm of the transverse-sigmoid sinus: a new case report and review of literature.

A 28-year-old woman consulted for disabling pulsatile tinnitus. Clinical examination suggested a venous etiology. An aneurysm of the transverse-sigmoid sinus was identified on computed tomography angiography (CTA) and confirmed by digital subtraction angiography. Endovascular occlusion of the aneurysm with detachable coils permanently eliminated the bruit. Thus, this report is of a new case of pulsatile tinnitus caused by an aneurysm of the transverse-sigmoid sinus, with a focus on a literature review and etiopathophysiology. Embryological studies suggest that these aneurysms represent a partial remnant of the petrosquamous sinus.

Effect of Temperature on the Development and Survival of the Argentine Ant, Linepithema humile

The influence of temperature on the developmental times and survival of insects can largely determine their distribution. For invasive species, like the Argentine ant, Linepithema humile Mayr (Hymenoptera: Formicidae), these data are essential for predicting their potential range based on mechanistic models. In the case of this species, such data are too scarce and incomplete to make accurate predictions based on its physiological needs. This research provides comprehensive new data about brood survival and developmental times at a wide range of temperatures under laboratory conditions. Temperature affected both the complete brood development from egg to adult worker and each of the immature stages separately. The higher the temperature, the shorter the development times. Brood survival from egg to adult was low, with the maximum survival rate being only 16% at 26° C. Temperature also affected survival of each of the immature stages differently: eggs were negatively affected by high temperatures, while larvae were negatively affected by low temperatures, and the survival of pupae was apparently independent of environmental temperature. At 32° C no eggs survived, while at 18° C less than 2% of the eggs hatched into larva. The data from the present study are essential for developing prediction models about the distribution range of this tramp species based on its physiological needs in relation to temperature

Climate change, anthropogenic disturbance and the northward range expansion of Lactuca serriola (Asteraceae)

The distribution range of Lactuca serriola, a species native to the summer-dry mediterranean climate, has expanded northwards during the last 250 years. This paper assesses the influence of climate on the range expansion of this species and highlights the importance of anthropogenic disturbance to its spread. Location Central and Northern Europe. Methods Data on the geographic distribution of L. serriola were assembled through a literature search as well as through floristic and herbarium surveys. Maps of the spread of L. serriola in Central and Northern Europe were prepared based on herbarium data. The spread was assessed more precisely in Germany, Austria and Great Britain by pooling herbarium and literature data. We modelled the bioclimatic niche of the species using occurrence and climatic data covering the last century to generate projections of suitable habitats under the climatic conditions of five time periods. We tested whether the observed distribution of L. serriola could be explained for each time period, assuming that the climatic niche of the species was conserved across time. Results The species has spread northwards since the beginning of the 19th century. We show that climate warming in Europe increased the number of sites suitable for the species at northern latitudes. Until the late 1970s, the distribution of the species corresponded to the climatically suitable sites available. For the last two decades, however, we could not show any significant relationship between the increase in suitable sites and the distributional range change of L. serriola. However, we highlight potential areas the species could spread to in the future (Great Britain, southern Scandinavia and the Swedish coast). It is predominantly non-climatic influences of global change that have contributed to its rapid spread. Main conclusions The observation that colonizing species are not filling their climatically suitable range might imply that, potentially, other ruderal species could expand far beyond their current range. Our work highlights the importance of historical floristic and herbarium data for understanding the expansion of a species. Such historical distributional data can provide valuable information for those planning the management of contemporary environmental problems, such as species responses to environmental change.

Can organizational commitment be experienced by indivuals pursuing contemporary career paths?

In a context in which organizations can no longer promise life-time employment and individuals increasingly experience inter-organizational mobility, this study tackles the question of whether organizational commitment is no longer related to new career orientations. To this end, it analyzes the relation between the underlying dimensions of protean (self direction and values driven) and boundaryless (boundaryless mindset and organizational mobility preference) career attitudes (Briscoe et al., 2006) and organizational commitment, within today's unstable and uncertain business scenario. Research results suggest that protean career attitudes contribute significantly to individuals emotional attachment to their employing organization. Furthermore, organizational mobility preference was found to be significant in predicting both affective and continuance commitment. Finally, future research suggestions and practical implications associated with the current study are provided.

Giant extra-hepatic thrombosed portal vein aneurysm: a case report and review of the literature.

BACKGROUND: Extrahepatic Portal vein aneurysm (EPVA) is a rare finding that may be associated with different complications, e.g. thrombosis, rupture, portal hypertension and compression of adjacent structures. It is being diagnosed more frequently with the advent of modern cross-sectional imaging. Our review of the English literature disclosed 13 cases of thrombosed EPVA. CASE PRESENTATION: A 50-years-old woman presented with acute abdominal pain but no other symptom. She had no relevant medical history. Palpation of the right upper quadrant showed tenderness. Laboratory tests were unremarkable. A computed tomography showed portal vein aneurysm measuring 88 × 65 mm with thrombosis extending to the superior mesenteric and splenic vein. The patient was treated conservatively with anticoagulation therapy. She was released after two weeks and followed on an outpatient basis. At two months, she reported decreased abdominal pain and her physical examination was normal. A computed tomography was performed showing a decreased thrombosis size and extent, measuring 80 × 55 mm. CONCLUSIONS: Although rare, surgeons should be made aware of this entity. Complications are various. Conservative therapy should be chosen in first intent in most cases. We reported the case of the second largest thrombosed extra-hepatic PVA described in the literature, treated by anticoagulation therapy with a good clinical and radiological response.