23 research outputs found

    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

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    We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻ÂčÂČ) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻ÂčÂč) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻ÂčÂč) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻ÂčÂč), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

    Get PDF
    We conducted a multi-stage, genome-wide association study of bladder cancer with a primary scan of 591,637 SNPs in 3,532 affected individuals (cases) and 5,120 controls of European descent from five studies followed by a replication strategy, which included 8,382 cases and 48,275 controls from 16 studies. In a combined analysis, we identified three new regions associated with bladder cancer on chromosomes 22q13.1, 19q12 and 2q37.1: rs1014971, (P = 8 × 10⁻ÂčÂČ) maps to a non-genic region of chromosome 22q13.1, rs8102137 (P = 2 × 10⁻ÂčÂč) on 19q12 maps to CCNE1 and rs11892031 (P = 1 × 10⁻⁷) maps to the UGT1A cluster on 2q37.1. We confirmed four previously identified genome-wide associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (P = 4 × 10⁻ÂčÂč) and a tag SNP for NAT2 acetylation status (P = 4 × 10⁻ÂčÂč), and found interactions with smoking in both regions. Our findings on common variants associated with bladder cancer risk should provide new insights into the mechanisms of carcinogenesis

    Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours : results from the COPPADIS cohort

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    The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose

    Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

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    Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

    Mini-Multi Interface Box Simulator (MMIBS)

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    Article number 012100 Code 166960Today’s military and commercial aircraft avionics and general systems are built around complex networks of intelligent devices. Maintenance and troubleshooting of these systems often require access to the data bus or networks connecting the system components. Whether it is on the integration test bench, Final Assembly Line (FAL) or at the Maintenance and Repair Organization (MRO), these tasks are usually performed by means of many, expensive, heavy and intrusive equipment. The MMIBS (Mini-Multi Interface Box Simulator) is a very compact, portable, multipurpose, lightweight, low-power, and easy-of-use electronics test means intended to improve digital aircraft ground testing and maintenance troubleshooting. It is capable of perform functional testing and simulating aeronautical equipment through most common aeronautical communication interfaces, such as AFDX, CAN BUS, ARINC 429, MIL-STD-1553, RS-422, RS-232, RS-485, Discrete and Analog I/O and RVDT (Rotary Variable Differential Transformer) reading capabilities. Besides, the system is highly configurable and reprogrammable by means of intuitive Python-based scripting. System is also able to be controlled with an intuitive, user-friendly and dedicated HMI (Human Machine Interface). In this mode, the user can conform a MMIBS WIFI network, allowing multiple MMIBS operating in parallel to cover complex testing scenarios. The MMIBS device integrates all the aeronautical communication and signaling in a volume of 12x12x12cm and weight of 1200g and provides an autonomy of 5 hours. In this way, our solution combines performance, reliability, low maintenance costs, and ease-of-use to support efficient ground maintenance operations

    Evaluation of the Integrated Tuberculosis Research Program Sponsored by the Spanish society of pulmonology and thoracic surgery: 11 years on

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