Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.

Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant identified. We investigate a variant in the gene encoding growth factor BMP4 in a family with Stickler syndrome with associated renal dysplasia. Next generation sequencing of the coding region of COL2A1, COL11A1 and a panel of genes associated with congenital anomalies of the kidney and urinary tract (CAKUT) was performed. A novel heterozygous BMP4 variant causing a premature stop codon, c. 130G>T, p.(Gly44Ter), which segregated with clinical features of Stickler syndrome in multiple family members, was identified. No variant affecting gene function was detected in COL2A1 or COL11A1. Skin fibroblasts were cultured with and without emetine, and the mRNA extracted and analysed by Sanger sequencing to assess whether the change was causing nonsense-mediated decay. Nonsense-mediated decay was not observed from the extracted BMP4 mRNA. BMP4 is a growth factor known to contribute to eye development in animals, and gene variants in humans have been linked to microphthalmia/anophthalmia as well as CAKUT. The variant identified here further demonstrates the importance of BMP4 in eye development. This is the first report of a BMP4 DNA variant causing Stickler syndrome, and we suggest BMP4 be added to standard diagnostic gene panels for this condition

“'Subaltern Victims’ or ‘Useful Resources”? Migrant Women in the Lega Nord Ideology and Politics"

Since the mid-2000s we have witnessed the emergence of a new phenomenon in several European countries: the mobilisation of issues of women’s rights and gender equality by populist radical right parties (PRR)1 in anti-immigration campaigns. Recent contributions have illustrated some aspects and contradictions of these phenomena, for instance in relation to the PRR parties’ embrace not only of women’s but also gay rights (Bracke 2011). Others have described the double standard applied to migrant men and women in the context of raising hostility towards the Muslim population, not only by PRR parties, but within the mainstream more generally; whereas Muslim men have been mostly described as representing a social and cultural danger to European societies as well as being inherently misogynist, Muslim women have been portrayed prevalently as victims to be rescued (Abu-Lughod 2013). Little however has been written on the gendered ideology and strategies of these parties, particularly when it comes to addressing the issue of migrant women. This chapter aims to address these gaps in the scholarly literature by focusing on the gendered dimensions of anti-immigration ideology, policy and politics in the case of the LN. In particular, we draw on the empirical findings of two research projects to analyse the instrumental mobilisation of women’s rights by the LN to stigmatise migrant, particularly Muslim, communities

Validating Chemistry Faculty Members’ Self-Reported Familiarity with Assessment Terminology

With the increasing emphasis placed upon chemistry instructors and departments to assess and evaluate their courses and curricula, understanding the structure of chemistry faculty members’ knowledge and use of assessment terms and concepts can shed light on potential areas for targeted professional development. Survey research that might accomplish this objective often relies on self-reported responses from the target audience, and such information is sometimes difficult to assess in terms of validity. As an example of an internal mechanism to help establish validity, it is possible to include an “internal standard” item early in the survey. For the sake of understanding faculty members’ familiarity with assessment terminology, an item that asked participants to identify analogous pairs of terms comparing assessment measures (assessment validity and assessment reliability) to laboratory measures (accuracy and precision) served this purpose. Using ordered logistic regression, participants who answered the analogy question completely correctly were more likely to report higher levels of familiarity with the assessment terms. Because the self-reported data appears to be valid, these data can be further used in subsequent analyses in order to determine the general familiarity trends among chemistry faculty regarding assessment terminology

Identification of five fundamental implicit theories underlying cognitive distortions in child abusers : a preliminary study

Qualitative analysis of interviews with 22 child abusers found strong evidence for Ward and Keenan\u27s (1999) proposal that there are five implicit theories in child abusers that account for the majority of their cognitive distortions/thinking errors. These implicit theories are: Child as a sexual being where children are perceived as being able to and wanting to engage in sexual activity with adults and also are not be harmed by such sexual contact; Nature of harm where the offender perceives that sexual activity does not cause harm (and may in fact be beneficial) to the child; Entitlement where the child abuser perceives that he is superior and more important than others: and hence is able to have sex with whoever, and whenever, he wants; Dangerous world where the offender perceives that that others are abusive and rejecting and he must fight to regain control; and Uncontrollable where the offender perceives the world as uncontrollable and hence he believes that circumstances are outside of his control. There was no evidence for any other type of implicit theory. Results of the study also indicated that there was a significant difference in terms of the endorsement of the Dangerous world implicit theory between participants reporting a history of child sexual abuse and those who did not. Offenders against male victims were significantly more likely to endorse the Child as a sexual being and Dangerous world implicit theories compared to men who had offended against female children

Mothers' perceptions of child weight status and the subsequent weight gain of their children : a population based longitudinal study

BACKGROUND: There is a plethora of cross sectional work on maternal perceptions of child weight status showing that mothers typically do not classify their overweight child as being overweight according to commonly used clinical criteria. Awareness of overweight in their child is regarded as an important prerequisite for mothers to initiate appropriate action. The gap in the literature is determining whether, if mothers do classify their overweight child's weight status correctly, this is associated with a positive outcome for the child's body mass index (BMI) at a later stage. OBJECTIVE: To explore longitudinal perceptions of child weight status from mothers of a contemporary population-based birth cohort (Gateshead Millennium Study) and relationships of these perceptions with future child weight gain. METHODS: Data collected in the same cohort at 7, 12 and 15 years of age: mothers' responses to two items concerning their child's body size; child's and mother's BMI; pubertal maturation; demographic information. RESULTS: Mothers' perceptions of whether their child was overweight did not change markedly over time. Child BMI was the only significant predictor of mothers' classification of overweight status, and it was only at the extreme end of the overweight range and in the obese range that mothers reliably described their child as overweight. Even when mothers did appropriately classify their child as overweight at an earlier stage, this was not related to relatively lower child BMI a few years later. CONCLUSIONS: Mothers tend to classify their child as overweight in only more extreme cases. It is an important finding that no beneficial impact was shown on later child BMI in overweight children whose mothers classified their child's weight status as overweight at an earlier stage.International Journal of Obesity accepted article preview online, 25 January 2017. doi:10.1038/ijo.2017.20

Measurement of the Bottom-Strange Meson Mixing Phase in the Full CDF Data Set

We report a measurement of the bottom-strange meson mixing phase \beta_s using the time evolution of B0_s -> J/\psi (->\mu+\mu-) \phi (-> K+ K-) decays in which the quark-flavor content of the bottom-strange meson is identified at production. This measurement uses the full data set of proton-antiproton collisions at sqrt(s)= 1.96 TeV collected by the Collider Detector experiment at the Fermilab Tevatron, corresponding to 9.6 fb-1 of integrated luminosity. We report confidence regions in the two-dimensional space of \beta_s and the B0_s decay-width difference \Delta\Gamma_s, and measure \beta_s in [-\pi/2, -1.51] U [-0.06, 0.30] U [1.26, \pi/2] at the 68% confidence level, in agreement with the standard model expectation. Assuming the standard model value of \beta_s, we also determine \Delta\Gamma_s = 0.068 +- 0.026 (stat) +- 0.009 (syst) ps-1 and the mean B0_s lifetime, \tau_s = 1.528 +- 0.019 (stat) +- 0.009 (syst) ps, which are consistent and competitive with determinations by other experiments.Comment: 8 pages, 2 figures, Phys. Rev. Lett 109, 171802 (2012

Effects of isopropanol on collagen fibrils in new parchment

Background: Isopropanol is widely used by conservators to relax the creases and folds of parchment artefacts. At present, little is known of the possible side effects of the chemical on parchments main structural component- collagen. This study uses X-ray Diffraction to investigate the effects of a range of isopropanol concentrations on the dimensions of the nanostructure of the collagen component of new parchment. Results: It is found in this study that the packing features of the collagen molecules within the collagen fibril are altered by exposure to isopropanol. The results suggest that this chemical treatment can induce a loss of structural water from the collagen within parchment and thus a rearrangement of intermolecular bonding. This study also finds that the effects of isopropanol treatment are permanent to parchment artefacts and cannot be reversed with rehydration using deionised water. Conclusions: This study has shown that isopropanol induces permanent changes to the packing features of collagen within parchment artefacts and has provided scientific evidence that its use to remove creases and folds on parchment artefacts will cause structural change that may contribute to long-term deterioration of parchment artefacts. This work provides valuable information that informs conservation practitioners regarding the use of isopropanol on parchment artefacts

Invasive Predators Deplete Genetic Diversity of Island Lizards

Invasive species can dramatically impact natural populations, especially those living on islands. Though numerous examples illustrate the ecological impact of invasive predators, no study has examined the genetic consequences for native populations subject to invasion. Here we capitalize on a natural experiment in which a long-term study of the brown anole lizard (Anolis sagrei) was interrupted by rat invasion. An island population that was devastated by rats recovered numerically following rat extermination. However, population genetic analyses at six microsatellite loci suggested a possible loss of genetic diversity due to invasion when compared to an uninvaded island studied over the same time frame. Our results provide partial support for the hypothesis that invasive predators can impact the genetic diversity of resident island populations

Improving the assessment of transferable skills in chemistry through evaluation of current practice

The development and assessment of transferable skills acquired by students, such as communication and teamwork, within undergraduate degrees is being increas-ingly emphasised. Many instructors have designed and implemented assessment tasks with the aim to provide students with opportunities to acquire and demon-strate these skills. We have now applied our previously published tool to evaluate whether assessment tasks allow students to demonstrate achievement of these transferable skills. The tool allows detailed evaluation of the alignment of any as-sessment item against the claimed set of learning outcomes. We present here two examples in which use of the tool provides evidence for the level of achievement of transferable skills and a further example of use of the tool to inform curricu-lum design and pedagogy, with the goal of increasing achievement of communi-cation and teamwork bench marks. Implications for practice in assessment design for learning are presented

Cell Cycle-Dependent Microtubule-Based Dynamic Transport of Cytoplasmic Dynein in Mammalian Cells

BACKGROUND:Cytoplasmic dynein complex is a large multi-subunit microtubule (MT)-associated molecular motor involved in various cellular functions including organelle positioning, vesicle transport and cell division. However, regulatory mechanism of the cell-cycle dependent distribution of dynein has not fully been understood. METHODOLOGY/PRINCIPAL FINDINGS:Here we report live-cell imaging of cytoplasmic dynein in HeLa cells, by expressing multifunctional green fluorescent protein (mfGFP)-tagged 74-kDa intermediate chain (IC74). IC74-mfGFP was successfully incorporated into functional dynein complex. In interphase, dynein moved bi-directionally along with MTs, which might carry cargos such as transport vesicles. A substantial fraction of dynein moved toward cell periphery together with EB1, a member of MT plus end-tracking proteins (+TIPs), suggesting +TIPs-mediated transport of dynein. In late-interphase and prophase, dynein was localized at the centrosomes and the radial MT array. In prometaphase and metaphase, dynein was localized at spindle MTs where it frequently moved from spindle poles toward chromosomes or cell cortex. +TIPs may be involved in the transport of spindle dyneins. Possible kinetochore and cortical dyneins were also observed. CONCLUSIONS AND SIGNIFICANCE:These findings suggest that cytoplasmic dynein is transported to the site of action in preparation for the following cellular events, primarily by the MT-based transport. The MT-based transport may have greater advantage than simple diffusion of soluble dynein in rapid and efficient transport of the limited concentration of the protein