Hereditary complement factor I deficiency

Summary We describe four cases (from three families) of hereditary factor I deficiency, bringing the total number of cases now reported to 23. In one family there are two affected siblings: one has suffered recurrent pyogenic infections; the other is asymptomatic. In the second family, the patient had recurrent pyogenic infections and a self-limiting vasculitic illness; in the third family, the patient suffered recurrent pyogenic and neisserial infections. All four patients had markedly reduced concentrations of C3 in the serum (family 1 propositus: 28%; family 1 asymptomatic sibling: 15%; family 2: 31%; and family 3: 31 % normal human serum) which was in the form of C3b. Low lgG2 levels may occur in primary C3 deficiency, and reduction in lgG2 concentration to 1.14 g/l (normal: 1.30-5.90 g/l) was found in the patient from family 2. Using radioligand binding assays, we demonstrated increased binding of C3b to erythrocytes in a patient with factor I deficiency. This C3b could not be cleaved by autologous serum but could be cleaved by normal serum or purified factor I. We review and compare the published cases of C3, factor H and factor I deficienc

Ion-beam-driven intense electrostatic solitary waves in reconnection jet

Electrostatic solitary waves (ESWs) have been reported inside reconnection jets, but their source and role remain unclear hitherto. Here we present the first observational evidence of ESWs generation by cold ion beams inside the jet, by using high-cadence measurements from the Magnetospheric Multiscale spacecraft in the Earth's magnetotail. Inside the jet, intense ESWs with amplitude up to 30 mV m(-1) and potential up to similar to 7% of the electron temperature are observed in association with accelerated cold ion beams. Instability analysis shows that the ion beams are unstable, providing free energy for the ESWs. The waves are observed to thermalize the beams, thus providing a new channel for ion heating inside the jet. Our study suggests that electrostatic turbulence can play an important role in the jet dynamics.Peer reviewe

Rotating Resonator-Oscillator Experiments to Test Lorentz Invariance in Electrodynamics

In this work we outline the two most commonly used test theories (RMS and SME) for testing Local Lorentz Invariance (LLI) of the photon. Then we develop the general framework of applying these test theories to resonator experiments with an emphasis on rotating experiments in the laboratory. We compare the inherent sensitivity factors of common experiments and propose some new configurations. Finally we apply the test theories to the rotating cryogenic experiment at the University of Western Australia, which recently set new limits in both the RMS and SME frameworks [hep-ph/0506074].Comment: Submitted to Lecture Notes in Physics, 36 pages, minor modifications, updated list of reference

Tourism communities and social ties: the role of online and offline tourist social networks in building social capital and sustainable practice.

Mobile connectivity enables the adoption of new ways to connect with social networks which are changing how we might, and could, seek support. In the tourism domain we increasingly blend online and offline presence to engage with social networks in the spatial location, at a distance and across time. This paper explores the forms of community that exist in physical tourism contexts, contexts not previously analysed through a community lens, and explores how mobile technology is creating connections within and beyond existing social networks. It examines how sustainable tourism can be enhanced by mobile connectivity through new space-time practices and using ephemeral interpersonal relationships to harness niche groups to create bottom-up social systems interested in sharing experiences, ideas and resources. Special attention is given to the concept of gelling socialities which proposes a less ridged network structure, and to the need to understand the increasingly liquid social dynamics of mobile social interactions. The paper adds to the theories surrounding community, social ties and tourism’s value to society. It draws on data from in-depth interviews undertaken while designing and testing a collaborative travel app. It contributes to growing research into the new technologies increasingly available for sustainable tourism marketing and implementation

Measurement of the branching fraction for Υ(1S)→τ+τ−\Upsilon (1S) \to \tau^+ \tau^-

We have studied the leptonic decay of the $\Upsilon (1S)$ resonance into tau pairs using the CLEO II detector. A clean sample of tau pair events is identified via events containing two charged particles where exactly one of the particles is an identified electron. We find $B(\Upsilon(1S) \to \tau^+ \tau^-) = (2.61~\pm~0.12~{+0.09\atop{-0.13}})$. The result is consistent with expectations from lepton universality.Comment: 9 pages, RevTeX, two Postscript figures available upon request, CLNS 94/1297, CLEO 94-20 (submitted to Physics Letters B

Maritime aerosol network as a component of AERONET - First results and comparison with global aerosol models and satellite retrievals

The Maritime Aerosol Network (MAN) has been collecting data over the oceans since November 2006. Over 80 cruises were completed through early 2010 with deployments continuing. Measurement areas included various parts of the Atlantic Ocean, the Northern and Southern Pacific Ocean, the South Indian Ocean, the Southern Ocean, the Arctic Ocean and inland seas. MAN deploys Microtops hand-held sunphotometers and utilizes a calibration procedure and data processing traceable to AERONET. Data collection included areas that previously had no aerosol optical depth (AOD) coverage at all, particularly vast areas of the Southern Ocean. The MAN data archive provides a valuable resource for aerosol studies in maritime environments. In the current paper we present results of AOD measurements over the oceans, and make a comparison with satellite AOD retrievals and model simulations

Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Although the evidence is not consistent, epidemiologic studies have suggested that taller adult height may be associated with an increased risk of some non-Hodgkin lymphoma (NHL) subtypes. Height is largely determined by genetic factors, but how these genetic factors may contribute to NHL risk is unknown. We investigated the relationship between genetic determinants of height and NHL risk using data from eight genome-wide association studies (GWAS) comprising 10,629 NHL cases, including 3,857 diffuse large B-cell lymphoma (DLBCL), 2,847 follicular lymphoma (FL), 3,100 chronic lymphocytic leukemia (CLL), and 825 marginal zone lymphoma (MZL) cases, and 9,505 controls of European ancestry. We evaluated genetically predicted height by constructing polygenic risk scores using 833 height-associated SNPs. We used logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) for association between genetically determined height and the risk of four NHL subtypes in each GWAS and then used fixed-effect meta-analysis to combine subtype results across studies. We found suggestive evidence between taller genetically determined height and increased CLL risk (OR = 1.08, 95% CI = 1.00\u20131.17, p = 0.049), which was slightly stronger among women (OR = 1.15, 95% CI: 1.01\u20131.31, p = 0.036). No significant associations were observed with DLBCL, FL, or MZL. Our findings suggest that there may be some shared genetic factors between CLL and height, but other endogenous or environmental factors may underlie reported epidemiologic height associations with other subtypes

Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study

A41 Use of SMS texts for facilitating access to online alcohol interventions: a feasibility study In: Addiction Science & Clinical Practice 2017, 12(Suppl 1): A4

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk.UK funding includes Cancer Research UK and NIH.This is the final version of the article. It first appeared from BioMed Central via http://dx.doi.org/10.1186/s13058-016-0718-

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

Large population-based registry studies have shown that breast cancer prognosis is inherited. Here we analyse single-nucleotide polymorphisms (SNPs) of genes implicated in human immunology and inflammation as candidates for prognostic markers of breast cancer survival involving 1,804 oestrogen receptor (ER)-negative patients treated with chemotherapy (279 events) from 14 European studies in a prior large-scale genotyping experiment, which is part of the Collaborative Oncological Gene-environment Study (COGS) initiative. We carry out replication using Asian COGS samples (n=522, 53 events) and the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer (POSH) study (n=315, 108 events). Rs4458204-A near CCL20 (2q36.3) is found to be associated with breast cancer-specific death at a genome-wide significant level (n=2,641, 440 events, combined allelic hazard ratio (HR)=1.81 (1.49-2.19); P for trend=1.90 × 10 â ̂'9). Such survival-associated variants can represent ideal targets for tailored therapeutics, and may also enhance our current prognostic prediction capabilities