Idiopathic scoliosis and pineal lesions in Australian children

PURPOSE: To determine whether treatment of pineal lesions in children is associated with development of idiopathic scoliosis. METHODS: 38 boys and 10 girls with pineal lesions were identified. Their mean age at presentation was 10 years. The pineal pathology varied from cysts and epidermoid to teratoma, germinoma, pineocytoma, and glioblastoma. Treatment ranged from biopsy/extirpation to radiotherapy. RESULTS: 12 patients died. No scoliosis was found in any females or any of the deceased. Two boys had scoliosis: one had a 12-degree right upper thoracic curve with 32-degree kyphosis and the other had a 60-degree right thoracolumbar idiopathic curve, requiring a 2-stage arthrodesis. CONCLUSION: Pineal ablation is not related to the development of idiopathic scoliosis in humans

Identification of potential “Remedies” for Air Pollution (nitrogen) Impacts on Designated Sites (RAPIDS)

Atmospheric nitrogen (N) deposition is a significant threat to semi-natural habitats and species in the UK, resulting in on-going erosion of habitat quality and declines in many species of high conservation value. The project focused on impacts and remedies for designated conservation sites, especially Natura 2000 sites protected under the EU Habitats Directive. However, the approach and certainly the measures could be equally applied to other areas of high conservation value. Evidence was drawn together to develop a framework for identifying key N threats at individual sites as a basis to target mitigation options in the context of potential legislative, voluntary and financial instruments

A nitrogen budget for Scotland

UKCEH report to SEPA. The aim of this study was to quantify key nitrogen flows for Scotland, bringing together the most recent available data for soils, water, air and human consumption/production (with an emphasis on agriculture, nutrition and waste). Losses of N to water (132 kt N yr-1), air (80 kt N yr-1) and terrestrial systems (90 kt N through atmospheric deposition) estimated here are substantial, and these are mainly due to agricultural activities and, to a smaller extent, waste recycling/processing. Improved nutrient use efficiency is critical for delivering both environmental and economic benefits. However, further work is required to complete currently unquantified and uncertain flows and provide more detail on key activities, to enable the development of policy options, in conjunction with SEPA’s Sector Plans

Tephrochronology of core PRAD 1-2 from the Adriatic Sea: insights into Italian explosive volcanism for the period 200–80 ka

Core PRAD 1-2, located on the western flank of the Mid-Adriatic Deep, was investigated for tephra content within the part of the sequence assigned on biostratigraphic and sapropel-layer stratigraphy to MIS 5 and 6 (ca. 80–200 ka BP). A total of 11 discrete tephra layers are identified, 8 visible and 3 cryptotephra layers. 235 geochemical measurements obtained from individual glass shards using WDS-EPMA enabled 8 of the 11 tephras to be correlated to known eruption events, 5 of which are represented in the Lago Grande di Monticchio (LGdM) regional tephra archive sequence. Three of these layers are recognised ultra-distally for the first time, extending their known distributions approximately 210 km further north. The results provide an independent basis for establishing an age-depth profile for the MIS 5–6 interval in the PRAD 1-2 marine record. This approach allowed age estimates to be interpolated for the tephra layers that could not be correlated to known events. It also provides an independent test of, and support for, the broad synchroneity of sapropel-equivalent (S-E) events in the Adriatic Sea with the better-developed sapropel layers of the eastern Mediterranean, proposed by Piva et al. (2008a)

Disparities between plant community responses to nitrogen deposition and critical loads in UK semi-natural habitats

Empirical critical loads are widely used to quantify and manage the ecological impacts of reactive nitrogen (N) deposition. Critical load values aim to identify a level of N deposition below which significant harmful effects do not occur according to present knowledge. Critical loads have been primarily based on experiments, but these are few in number and have well-known limitations, so there is a strong imperative to test and validate values with other forms of evidence. We assembled data on the spatial variability in vegetation communities in the United Kingdom and used Threshold Indicator Taxa Analyses (TITAN) to investigate linkages between species changes and modelled current and cumulative N deposition. Our analyses focused on five datasets: acid grasslands, alpine habitats, coastal fixed dunes, dune slacks and wet grasslands. In four of these habitats there was evidence for a significant decline in the cover of at least one species (a ‘species-loss change-point’) occurring below the critical load, and often at very low levels of N deposition. In all of the habitats there was evidence for clustering of many individual species-loss change-points, implying a community change-point analogous to an ecological threshold. Three of these community change-points occurred below the critical load and the remaining two overlapped with the critical load range. Studies using similar approaches are now increasingly common, with similar results. Across 19 similar analyses there has been evidence for plant species loss change-points below the critical load in 18 analyses, and community-level species loss change-points below the critical load in 13 analyses. None of these analyses has shown community change-points above the critical load. Field data increasingly suggest that many European critical loads are too high to confidently prevent loss of sensitive species

A First Search for coincident Gravitational Waves and High Energy Neutrinos using LIGO, Virgo and ANTARES data from 2007

We present the results of the first search for gravitational wave bursts associated with high energy neutrinos. Together, these messengers could reveal new, hidden sources that are not observed by conventional photon astronomy, particularly at high energy. Our search uses neutrinos detected by the underwater neutrino telescope ANTARES in its 5 line configuration during the period January - September 2007, which coincided with the fifth and first science runs of LIGO and Virgo, respectively. The LIGO-Virgo data were analysed for candidate gravitational-wave signals coincident in time and direction with the neutrino events. No significant coincident events were observed. We place limits on the density of joint high energy neutrino - gravitational wave emission events in the local universe, and compare them with densities of merger and core-collapse events.Comment: 19 pages, 8 figures, science summary page at http://www.ligo.org/science/Publication-S5LV_ANTARES/index.php. Public access area to figures, tables at https://dcc.ligo.org/cgi-bin/DocDB/ShowDocument?docid=p120000

Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World.

Phlebotomine sand flies are of global significance as important vectors of human disease, transmitting bacterial, viral, and protozoan pathogens, including the kinetoplastid parasites of the genus Leishmania, the causative agents of devastating diseases collectively termed leishmaniasis. More than 40 pathogenic Leishmania species are transmitted to humans by approximately 35 sand fly species in 98 countries with hundreds of millions of people at risk around the world. No approved efficacious vaccine exists for leishmaniasis and available therapeutic drugs are either toxic and/or expensive, or the parasites are becoming resistant to the more recently developed drugs. Therefore, sand fly and/or reservoir control are currently the most effective strategies to break transmission. To better understand the biology of sand flies, including the mechanisms involved in their vectorial capacity, insecticide resistance, and population structures we sequenced the genomes of two geographically widespread and important sand fly vector species: Phlebotomus papatasi, a vector of Leishmania parasites that cause cutaneous leishmaniasis, (distributed in Europe, the Middle East and North Africa) and Lutzomyia longipalpis, a vector of Leishmania parasites that cause visceral leishmaniasis (distributed across Central and South America). We categorized and curated genes involved in processes important to their roles as disease vectors, including chemosensation, blood feeding, circadian rhythm, immunity, and detoxification, as well as mobile genetic elements. We also defined gene orthology and observed micro-synteny among the genomes. Finally, we present the genetic diversity and population structure of these species in their respective geographical areas. These genomes will be a foundation on which to base future efforts to prevent vector-borne transmission of Leishmania parasites

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.

Purpose: Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods: We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. Results: The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p < 0.001), rs9939609 (FTO) (OR 0.94, 95 % CI = 0.92–0.95, p = 4.13E−13), rs7903146 (TCF7L2) (OR 1.04, 95 % CI = 1.02–1.06, p = 1.26E−05), and rs8042680 (PRC1) (OR 0.97, 95 % CI = 0.95–0.99, p = 8.05E−04). Conclusions: We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk

Genetic predisposition to ductal carcinoma in situ of the breast

Background: Ductal carcinoma in situ (DCIS) is a non-invasive form of breast cancer. It is often associated with invasive ductal carcinoma (IDC), and is considered to be a non-obligate precursor of IDC. It is not clear to what extent these two forms of cancer share low-risk susceptibility loci, or whether there are differences in the strength of association for shared loci. Methods: To identify genetic polymorphisms that predispose to DCIS, we pooled data from 38 studies comprising 5,067 cases of DCIS, 24,584 cases of IDC and 37,467 controls, all genotyped using the iCOGS chip. Results: Most (67 %) of the 76 known breast cancer predisposition loci showed an association with DCIS in the same direction as previously reported for invasive breast cancer. Case-only analysis showed no evidence for differences between associations for IDC and DCIS after considering multiple testing. Analysis by estrogen receptor (ER) status confirmed that loci associated with ER positive IDC were also associated with ER positive DCIS. Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). These associations with grade remained after adjusting for ER status and were also found in IDC. We found no novel DCIS-specific loci at a genome wide significance level of P < 5.0x10-8. Conclusion: In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist

Whole genome analysis of a schistosomiasis-transmitting freshwater snail

Biomphalaria snails are instrumental in transmission of the human blood fluke Schistosoma mansoni. With the World Health Organization's goal to eliminate schistosomiasis as a global health problem by 2025, there is now renewed emphasis on snail control. Here, we characterize the genome of Biomphalaria glabrata, a lophotrochozoan protostome, and provide timely and important information on snail biology. We describe aspects of phero-perception, stress responses, immune function and regulation of gene expression that support the persistence of B. glabrata in the field and may define this species as a suitable snail host for S. mansoni. We identify several potential targets for developing novel control measures aimed at reducing snail-mediated transmission of schistosomiasis