Scoring system to facilitate diagnosis of Gaucher disease

Background: Gaucher disease (GD) manifests heterogeneously and other conditions are often misdiagnosed in its place, leading to diagnostic delays. The Gaucher Earlier Diagnosis Consensus (GED‐C) initiative proposed a point‐scoring system (PSS) based on the signs and covariables that are most indicative of GD to help clinicians identify which individuals to test for GD. Aims: To validate the PSS retrospectively in a test population including patients with GD and other conditions with overlapping manifestations. Methods: Four cohorts of adults with GD, liver disease (LD), haematological malignancy (HM) or immune thrombocytopenia were identified from hospital records. Clinical data were audited for GED‐C factors identified as potentially indicative of GD and aggregate scores calculated (sum of scores/number of factors) based on published PSS weightings. Threshold discriminatory PSS scores, sensitivity and specificity were determined by receiver‐operating characteristic (ROC) analysis. Results: Among 100 patients (GD, n = 25; non‐GD, n = 75), analyses based on 11 possible factors estimated group mean (standard deviation) PSS scores of: GD (n = 14), 1.08 (0.25); non‐GD (n = 38), 0.58 (0.31). Mean between‐group difference (95% confidence interval (CI)) was (−0.49 (−0.68, −0.31)) and area under the ROC analysis curve (95% CI) was 0.88 (0.78, 0.97). A threshold PSS score of 0.82 identified all 14 patients with GD in the analysis set (100% sensitivity) and 27 of 38 patients in the non‐GD group (71% specificity). Patients with LD and HM were most likely to have manifestations overlapping GD. Conclusions: Preliminary validation of the GED‐C PSS discriminated effectively between patients with GD and those with overlapping signs

Marine invasive species:Establishing pathways, their presence and potential threats in the Galapagos Marine Reserve

Worldwide, marine biological invasions of non-native species have increased significantly in recent years due to a rapid rise in global trade, transport and tourism. Invasions occur when non-native species are transported from one region to another and establish, often resulting in competition displacing native species and changing ecosystems. Historic literature searches were conducted along with dive surveys of the main ports and in sites around the archipelago in order to produce a baseline of which non-native species are present in the Galapagos Marine Reserve at this time. Confounding processes of anthropogenic and natural activities are increasing the potential spread of marine invasive species in the Eastern Tropical Pacific and the Galapagos Marine Reserve. We discuss the potential vectors facilitating marine invasions with the suggestion that marine traffic could be the most influential vector in the transport of marine non-natives to the Galapagos Marine Reserve. The challenge for marine park authorities is to identify those species that are likely to cause negative impacts on native biodiversity and ecosystems before they establish in the Galapagos, and to develop pre-emptive strategies that would likely include prevention as well as risk-based management strategies to remove them or to mitigate their harmful effects

Economic evaluation of propofol and lorazepam for critically ill patients undergoing mechanical ventilation*

The economic implications of sedative choice in the management of patients receiving mechanical ventilation are unclear because of differences in costs and clinical outcomes associated with specific sedatives. Therefore, we aimed to determine the cost-effectiveness of the most commonly used sedatives prescribed for mechanically ventilated critically ill patients

From silence to primary definer: The rise of the Intelligence lobby in the public sphere

Until the end of the Cold War the UK intelligence services were not officially acknowledged, and their personnel were banned from entering the public sphere. From 1989 the UK government began to put the intelligence services on a legal footing and to release the identity of the heads of the intelligence agencies. Since then, public engagement by the intelligence agencies has gathered pace. What this article hypothesises is that there is now, in the UK, an effective intelligence lobby of former insiders who engage in the public sphere – using on the record briefings – to counter criticism of the intelligence community and to promote a narrative and vision of what UK intelligence should do, how it is supported and how oversight is conducted. Content analysis and framing models of non-broadcast coverage of intelligence debates, focusing on the 36 months after the Snowden revelations, confirm an active and rolling lobby of current and former intelligence officials. The paper concludes that the extent of the lobby’s interventions in the public sphere is a matter for debate and possible concern

Preventable patient harm: A multidisciplinary, bundled approach to reducing clostridium difficile infections while using a glutamate dehydrogenase/toxin immunochromatographic assay/nucleic acid amplification test diagnostic algorithm

Health care facility-onset Clostridium difficile infections (HO-CDI) are an important national problem, causing increased morbidity and mortality. HO-CDI is an important metric for the Center for Medicare and Medicaid Service’s (CMS) performance measures. Hospitals that fall into the worst-performing quartile in preventing hospital-acquired infections, including HO-CDI, may lose millions of dollars in reimbursement. Under pressure to reduce CDI and without a clear optimal method for C. difficile detection, health care facilities are questioning how best to use highly sensitive nucleic acid amplification tests (NAATs) to aid in the diagnosis of CDI. Our institution has used a two-step glutamate dehydrogenase (GDH)/toxin immunochromatographic assay/NAAT algorithm since 2009. In 2016, our institution set an organizational goal to reduce our CDI rates by 10% by July 2017. We achieved a statistically significant reduction of 42.7% in our HO-CDI rate by forming a multidisciplinary group to implement and monitor eight key categories of infection prevention interventions over a period of 13 months. Notably, we achieved this reduction without modifying our laboratory algorithm. Significant reductions in CDI rates can be achieved without altering sensitive laboratory testing methods

An international, multicentre evaluation and description of Burkholderia pseudomallei infection in cystic fibrosis

Several cases of Burkholderia pseudomallei infection in CF have been previously reported. We aimed to identify all cases globally, risk factors for acquisition, clinical consequences, and optimal treatment strategies.We performed a literature search to identify all published cases of B. pseudomallei infection in CF. In addition we hand-searched respiratory journals, and contacted experts in infectious diseases and CF around the world. Supervising clinicians for identified cases were contacted and contemporaneous clinical data was requested.25 culture-confirmed cases were identified. The median age at acquisition was 21 years, mean FEV1 % predicted was 60 %, and mean BMI was 19.5 kg/m(2). The location of acquisition was northern Australia or south-east Asia for most. 19 patients (76 %) developed chronic infection, which was usually associated with clinical decline. Successful eradication strategies included a minimum of two weeks of intravenous ceftazidime, followed by a consolidation phase with trimethoprim/sulfamethoxazole, and this resulted in a higher chance of success when instituted early. Three cases of lung transplantation have been recorded in the setting of chronic B. pseudomallei infection.Chronic carriage of B. pseudomallei in patients with CF appears common after infection, in contrast to the non-CF population. This is often associated with an accelerated clinical decline. Lung transplantation has been performed in select cases of chronic B. pseudomallei infection.James B. Geake, David W. Reid, Bart J. Currie, Scott C. Bell, and MelioidCF Investigator

Use of multivitamins, folic acid and herbal supplements among breast cancer survivors: the black women's health study

<p>Abstract</p> <p>Background</p> <p>Complementary and alternative medicine (CAM) use, including herbals and multivitamin supplements, is quite common in the U.S., and has been shown to be highest in breast cancer survivors. However, limited data are currently available for CAM usage among African Americans. Thus, we sought to determine the prevalence of multivitamins, folic acid and herbal supplement usage in African American breast cancer survivors, and to compare the characteristics of users and nonusers.</p> <p>Methods</p> <p>A cohort study of breast cancer survivors, who completed the 1999 Black Women's Health Study questionnaire and self-reported having been diagnosed with breast cancer between 1995 and 1999, comprised the study population. In this study, the intake of natural herbs, multivitamins and folic acid at least three days per week within the past two years was used as a proxy for typical usage of this complimentary alternative medicine (CAM) modality.</p> <p>Results</p> <p>A total of 998 breast cancer survivors were identified. Overall, 68.2% had used either herbals or multivitamin supplements or both. The three most frequently used herbals were garlic (21.2%), gingko (12.0%), and echinacea (9.4%). The multivariate analysis determined that single marital status (OR = 1.58; 95%CI: 1.04-2.41), and alcohol consumption of 1-3 drinks per week (OR = 1.86, 95%CI: 1.28-2.68) were significantly associated with increased herbal use. Multivitamin use was significantly lower among obese women (OR = 0.66, 95%CI: 0.46-0.94) and current smokers (OR = 0.53, 95%CI: 0.34-0.82).</p> <p>Conclusions</p> <p>A significant number of African American breast cancer survivors are using herbals and multivitamins as CAM modality. Additional research is needed to understand the impact of herbals and multivitamins in African American breast cancer survivors.</p

Linking Hydrothermal Geochemistry to Organismal Physiology: Physiological Versatility in Riftia pachyptila from Sedimented and Basalt-hosted Vents

Much of what is known regarding Riftia pachyptila physiology is based on the wealth of studies of tubeworms living at diffuse flows along the fast-spreading, basalt-hosted East Pacific Rise (EPR). These studies have collectively suggested that Riftia pachyptila and its chemoautotrophic symbionts are physiologically specialized, highly productive associations relying on hydrogen sulfide and oxygen to generate energy for carbon fixation, and the symbiont's nitrate reduction to ammonia for energy and biosynthesis. However, Riftia also flourish in sediment-hosted vents, which are markedly different in geochemistry than basalt-hosted systems. Here we present data from shipboard physiological studies and global quantitative proteomic analyses of Riftia pachyptila trophosome tissue recovered from tubeworms residing in the EPR and the Guaymas basin, a sedimented, hydrothermal vent field. We observed marked differences in symbiont nitrogen metabolism in both the respirometric and proteomic data. The proteomic data further suggest that Riftia associations in Guaymas may utilize different sulfur compounds for energy generation, may have an increased capacity for energy storage, and may play a role in degrading exogenous organic carbon. Together these data reveal that Riftia symbionts are far more physiologically plastic than previously considered, and that -contrary to previous assertions- Riftia do assimilate reduced nitrogen in some habitats. These observations raise new hypotheses regarding adaptations to the geochemical diversity of habitats occupied by Riftia, and the degree to which the environment influences symbiont physiology and evolution

Beam test performance of a prototype module with Short Strip ASICs for the CMS HL-LHC tracker upgrade

The Short Strip ASIC (SSA) is one of the four front-end chips designed for the upgrade of the CMS Outer Tracker for the High Luminosity LHC. Together with the Macro-Pixel ASIC (MPA) it will instrument modules containing a strip and a macro-pixel sensor stacked on top of each other. The SSA provides both full readout of the strip hit information when triggered, and, together with the MPA, correlated clusters called stubs from the two sensors for use by the CMS Level-1 (L1) trigger system. Results from the first prototype module consisting of a sensor and two SSA chips are presented. The prototype module has been characterized at the Fermilab Test Beam Facility using a 120 GeV proton beam