140 research outputs found

    Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond

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    Beacon is a basic data discovery protocol issued by the Global Alliance for Genomics and Health (GA4GH). The main goal addressed by version 1 of the Beacon protocol was to test the feasibility of broadly sharing human genomic data, through providing simple "yes" or "no" responses to queries about the presence of a given variant in datasets hosted by Beacon providers. The popularity of this concept has fostered the design of a version 2, that better serves real-world requirements and addresses the needs of clinical genomics research and healthcare, as assessed by several contributing projects and organizations. Particularly, rare disease genetics and cancer research will benefit from new case level and genomic variant level requests and the enabling of richer phenotype and clinical queries as well as support for fuzzy searches. Beacon is designed as a "lingua franca" to bridge data collections hosted in software solutions with different and rich interfaces. Beacon version 2 works alongside popular standards like Phenopackets, OMOP, or FHIR, allowing implementing consortia to return matches in beacon responses and provide a handover to their preferred data exchange format. The protocol is being explored by other research domains and is being tested in several international projects

    Assaying Total Carotenoids in Flours of Corn and Sweetpotato by Laser Photoacoustic Spectroscopy

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    This study describes the application of the laser photoacoustic spectroscopy (PAS) for quantification of total carotenoids (TC) in corn flours and sweetpotato flours. Overall, thirty-three different corn flours and nine sweetpotato flours were investigated. All PAS measurements were performed at room temperature using 488-nm argon laser radiation for excitation and mechanical modulation of 9 and 30 Hz. The measurements were repeated within a run and within several days or months. The UV–Vis spectrophotometry was used as the reference method. The concentration range that allows for the reliable analysis of TC spans a region from 1 to 40 mg kg−1 for corn flours and from 9 to 40 mg kg−1 for sweetpotato flours. In the case of sweetpotato flours, the quantification may extend even to 240 mg kg−1 TC. The estimated detection limit values for TC in corn and sweetpotato flours were 0.1 and 0.3 mg kg−1, respectively. The computed repeatability (n = 3–12) and intermediate precision (n = 6–28) RSD values at 9 and 30 Hz are comparable: 0.1–17.1% and 5.3–14.7% for corn flours as compared with 1.4–9.1% and 4.2–23.0% for sweetpotato flours. Our results show that PAS can be successfully used as a new analytical tool to simply and rapidly screen the flours for their nutritional potential based on the total carotenoid concentration

    Mercury, cadmium, and lead levels in human placenta: a systematic review

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    BACKGROUND: Placental tissue may furnish information on the exposure of both mother and fetus. Mercury (Hg), cadmium (Cd), and lead (Pb) are toxicants of interest in pregnancy because they are associated with alterations in child development. OBJECTIVES: The aim of this study was to summarize the available information regarding total Hg, Cd, and Pb levels in human placenta and possible related factors. METHODS: We performed a systematic search of PubMed/MEDLINE, EMBASE, Lilacs, OSH, and Web of Science for original papers on total Hg, Cd, or Pb levels in human placenta that were published in English or Spanish (1976-2011). Data on study design, population characteristics, collection and analysis of placenta specimens, and main results were extracted using a standardized form. RESULTS: We found a total of 79 papers (73 different studies). Hg, Cd, and Pb levels were reported in 24, 46, and 46 studies, respectively. Most studies included small convenience samples of healthy pregnant women. Studies were heterogeneous regarding populations selected, processing of specimens, and presentation of results. Hg concentrations > 50 ng/g were found in China (Shanghai), Japan, and the Faroe Islands. Cd levels ranged from 1.2 ng/g to 53 ng/g and were highest in the United States, Japan, and Eastern Europe. Pb showed the greatest variability, with levels ranging from 1.18 ng/g in China (Shanghai) to 500 ng/g in a polluted area of Poland. CONCLUSION: The use of the placenta as a biomarker to assess heavy metals exposure is not properly developed because of heterogeneity among the studies. International standardized protocols are needed to enhance comparability and increase the usefulness of this promising tissue in biomonitoring studies.We thank the librarians of the Móstoles Hospital and of the National Health Sciences Library (ISCIII).S

    Referrals to a regional allergy clinic - an eleven year audit

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    <p>Abstract</p> <p>Background</p> <p>Allergy is a serious and apparently increasing public health problem yet relatively little is known about the types of allergy seen in routine tertiary practice, including their spatial distribution, co-occurrence or referral patterns. This study reviewed referrals over an eleven year period to a regional allergy clinic that had a well defined geographical boundary. For those patients confirmed as having an allergy we explored: (i) differences over time and by demographics, (ii) types of allergy, (iii) co-occurrence, and (iv) spatial distributions.</p> <p>Methods</p> <p>Data were extracted from consultant letters to GPs, from September 1998 to September 2009, for patients confirmed as having an allergy. Other data included referral statistics and population data by postcode. Simple descriptive analysis was used to describe types of allergy. We calculated 11 year standardised morbidity ratios for postcode districts and checked for spatial clustering. We present maps showing 11 year rates by postcode, and 'difference' maps which try to separate referral effect from possible environmental effect.</p> <p>Results</p> <p>Of 5778 referrals, 961 patients were diagnosed with an allergy. These were referred by a total of 672 different GPs. There were marked differences in referral patterns between GP practices and also individual GPs. The mean age of patients was 35 and there were considerably more females (65%) than males. Airborne allergies were the most frequent (623), and there were very high rates of co-occurrence of pollen, house dust mite, and animal hair allergies. Less than half (410) patients had a food allergy, with nuts, fruit, and seafood being the most common allergens. Fifteen percent (142) had both a food and a non-food allergy. Certain food allergies were more likely to co-occur, for example, patients allergic to dairy products were more likely to be allergic to egg.</p> <p>There were age differences by types of allergy; people referred with food allergies were on average 5 years younger than those with other allergies, and those allergic to nuts were much younger (26 Vs 38) than those with other food allergies.</p> <p>There was clear evidence for spatial clustering with marked clustering around the referral hospital. However, the geographical distribution varied between allergies; airborne (particularly pollen allergies) clustered in North Dartmoor and Exmoor, food allergies (particularly nut allergies) in the South Hams, and on small numbers, some indication of seafood allergy in the far south west of Cornwall and in the Padstow area.</p> <p>Conclusions</p> <p>This study shows marked geographical differences in allergy referrals which are likely to reflect a combination of environmental factors and GP referral patterns. The data suggest that GPs may benefit from education and ongoing decision support and be supported by public education on the nature of allergy. It suggests further research into what happens to patients with allergy where there has been low use of tertiary services and further research into cross-reactivity and co-occurrence, and spatial distribution of allergy.</p

    Primary care utilisation patterns among an urban immigrant population in the Spanish National Health System

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    <p>Abstract</p> <p>Background</p> <p>There is evidence suggesting that the use of health services is lower among immigrants after adjusting for age and sex. This study takes a step forward to compare primary care (PC) utilisation patterns between immigrants and the native population with regard to their morbidity burden.</p> <p>Methods</p> <p>This retrospective, observational study looked at 69,067 individuals representing the entire population assigned to three urban PC centres in the city of Zaragoza (Aragon, Spain). Poisson models were applied to determine the number of annual PC consultations per individual based on immigration status. All models were first adjusted for age and sex and then for age, sex and case mix (ACG System<sup>®</sup>).</p> <p>Results</p> <p>The age and sex adjusted mean number of total annual consultations was lower among the immigrant population (children: IRR = 0.79, p < 0.05; adults: IRR = 0.73, p < 0.05). After adjusting for morbidity burden, this difference decreased among children (IRR = 0.94, p < 0.05) and disappeared among adults (IRR = 1.00). Further analysis considering the PC health service and type of visit revealed higher usage of routine diagnostic tests among immigrant children (IRR = 1.77, p < 0.05) and a higher usage of emergency services among the immigrant adult population (IRR = 1.2, p < 0.05) after adjusting for age, sex and case mix.</p> <p>Conclusions</p> <p>Although immigrants make lower use of PC services than the native population after adjusting the consultation rate for age and sex, these differences decrease significantly when considering their morbidity burden. These results reinforce the 'healthy migration effect' and discount the existence of differences in PC utilisation patterns between the immigrant and native populations in Spain.</p

    Congruence of tissue expression profiles from Gene Expression Atlas, SAGEmap and TissueInfo databases

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    BACKGROUND: Extracting biological knowledge from large amounts of gene expression information deposited in public databases is a major challenge of the postgenomic era. Additional insights may be derived by data integration and cross-platform comparisons of expression profiles. However, database meta-analysis is complicated by differences in experimental technologies, data post-processing, database formats, and inconsistent gene and sample annotation. RESULTS: We have analysed expression profiles from three public databases: Gene Expression Atlas, SAGEmap and TissueInfo. These are repositories of oligonucleotide microarray, Serial Analysis of Gene Expression and Expressed Sequence Tag human gene expression data respectively. We devised a method, Preferential Expression Measure, to identify genes that are significantly over- or under-expressed in any given tissue. We examined intra- and inter-database consistency of Preferential Expression Measures. There was good correlation between replicate experiments of oligonucleotide microarray data, but there was less coherence in expression profiles as measured by Serial Analysis of Gene Expression and Expressed Sequence Tag counts. We investigated inter-database correlations for six tissue categories, for which data were present in the three databases. Significant positive correlations were found for brain, prostate and vascular endothelium but not for ovary, kidney, and pancreas. CONCLUSION: We show that data from Gene Expression Atlas, SAGEmap and TissueInfo can be integrated using the UniGene gene index, and that expression profiles correlate relatively well when large numbers of tags are available or when tissue cellular composition is simple. Finally, in the case of brain, we demonstrate that when PEM values show good correlation, predictions of tissue-specific expression based on integrated data are very accurate

    The development of a multidisciplinary fall risk evaluation tool for demented nursing home patients in the Netherlands

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    BACKGROUND: Demented nursing home patients are at high risk for falls. Falls and associated injuries can have a considerable influence on the autonomy and quality of life of patients. The prevention of falls among demented patients is therefore an important issue. In order to intervene in an efficient way in this group of patients, it is important to systematically evaluate the fall risk profile of each individual patient so that for each patient tailor-made preventive measures can be taken. Therefore, the objective of the present study is to develop a feasible and evidence based multidisciplinary fall risk evaluation tool to be used for tailoring preventive interventions to the needs of individual demented patients. METHODS: To develop this multidisciplinary fall risk evaluation tool we have chosen to combine scientific evidence on the one hand and experts' opinions on the other hand. Firstly, relevant risk factors for falling in elderly persons were gathered from the literature. Secondly, a group of Dutch experts in the field of falls and fall prevention in the elderly were consulted to judge the suitability of these risk factors for use in a multidisciplinary fall risk evaluation tool for demented nursing home patients. Thirdly, in order to generate a compact list of the most relevant risk factors for falling in demented elderly, all risk factors had to fulfill a set of criteria indicating their relevance for this specific target population. Lastly the final list of risk factors resulting from the above mentioned procedure was presented to the expert group. The members were also asked to give their opinion about the practical use of the tool. RESULTS: The multidisciplinary fall risk evaluation tool we developed includes the following items: previous falls, use of medication, locomotor functions, and (correct) choice and use of assistive and protective devices. The tool is developed for the multidisciplinary teams of the nursing homes. CONCLUSION: This evidence and practice based multidisciplinary fall risk evaluation tool targets the preventive interventions aimed to prevent falls and their negative consequences in demented nursing home patients

    Concentration Endurance Test (d2): Normative data for Spanish-speaking pediatric population

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    OBJECTIVE: To generate normative data for the Concentration Endurance Test (d2) in Spanish-speaking pediatric populations. METHOD: The sample consisted of 4,373 healthy children from nine countries in Latin America (Chile, Cuba, Ecuador, Guatemala, Honduras, Mexico, Paraguay, Peru, and Puerto Rico) and Spain. Each participant was administered the d2 test as part of a larger neuropsychological battery. The Total number of items processed (TN), Total number of correct responses (CR), Total performance (TP), and Concentration performance (CP) scores were normed using multiple linear regressions and standard deviations of residual values. Age, age2, sex, and mean level of parental education (MLPE) were included as predictors in the analyses. RESULTS: The final multiple linear regression models showed main effects for age on all scores, such that scores increased linearly as a function of age. TN scores were affected by age2 for Guatemala and Puerto Rico; CR scores were affected by age2 for Mexico; TP scores were affected by age2 for Chile, Mexico, Puerto Rico, and Spain; and CP scores for Mexico and Spain. Models indicated that children whose parents had a MLPE >12 years obtained higher scores compared to children whose parents had a MLPE≤12 years for Mexico and Spain in all scores, and Puerto Rico for TN, CR, and TP, and Guatemala and Paraguay for CP scores. Sex affect the scores for Ecuador and Honduras (CP scores). CONCLUSIONS: This is the largest Spanish-speaking pediatric normative study in the world, and it will allow neuropsychologists from these countries to have a more accurate approach to interpret the d2 test in pediatric populations
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