| 1. |
- Brownstein, Catherine A., et al.
(författare)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Tidskriftsartikel (refereegranskat)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 2. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 3. |
- Elamalayil Soman, Deepak, et al.
(författare)
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Discontinuous conduction mode of a three-level boost DC-DC converter and its merits and limits for voltage cross regulation applications
- 2014
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Ingår i: Proceedings, IECON 2014 - 40th Annual Conference of the IEEE Industrial Electronics Society. - : IEEE conference proceedings. - 9781479940325 ; , s. 4268-4272
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Konferensbidrag (refereegranskat)abstract
- Distributed generation and smart grid integration of renewable energy sources introduce a lot of challenges for the enabling power electronic converter technology. Some of these challenges include wide controllability range, high power handling and good reliability. Three-level boost converter is one of the attractive solution for applications requiring voltage cross regulation such as three-level neutral point clamped inverter based grid integration of renewable sources. The present work shows the advantages and disadvantages of using discontinuous conduction mode of a Three-level boost converter for voltage cross regulation. The converter working principle, modes of operation and operating cases are listed briefly. The simulation results compare the DCM and CCM cross regulation effects. Based on these results, the controllability range of the converter is analyzed to understand the suitability of the converter for various applications.
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| 4. |
- Huffman, Mark D, et al.
(författare)
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A cross-sectional study of the microeconomic impact of cardiovascular disease hospitalization in four low- and middle-income countries.
- 2011
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 6:6
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To estimate individual and household economic impact of cardiovascular disease (CVD) in selected low- and middle-income countries (LMIC).BACKGROUND: Empirical evidence on the microeconomic consequences of CVD in LMIC is scarce.METHODS AND FINDINGS: We surveyed 1,657 recently hospitalized CVD patients (66% male; mean age 55.8 years) from Argentina, China, India, and Tanzania to evaluate the microeconomic and functional/productivity impact of CVD hospitalization. Respondents were stratified into three income groups. Median out-of-pocket expenditures for CVD treatment over 15 month follow-up ranged from 354 international dollars (2007 INT$, Tanzania, low-income) to INT$2,917 (India, high-income). Catastrophic health spending (CHS) was present in >50% of respondents in China, India, and Tanzania. Distress financing (DF) and lost income were more common in low-income respondents. After adjustment, lack of health insurance was associated with CHS in Argentina (OR 4.73 [2.56, 8.76], India (OR 3.93 [2.23, 6.90], and Tanzania (OR 3.68 [1.86, 7.26] with a marginal association in China (OR 2.05 [0.82, 5.11]). These economic effects were accompanied by substantial decreases in individual functional health and productivity.CONCLUSIONS: Individuals in selected LMIC bear significant financial burdens following CVD hospitalization, yet with substantial variation across and within countries. Lack of insurance may drive much of the financial stress of CVD in LMIC patients and their families.
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| 5. |
- Schoch, Conrad L., et al.
(författare)
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Finding needles in haystacks: linking scientific names, reference specimens and molecular data for Fungi
- 2014
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Ingår i: Database: The Journal of Biological Databases and Curation. - : Oxford University Press (OUP). - 1758-0463. ; 2014:bau061, s. 1-21
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Tidskriftsartikel (refereegranskat)abstract
- DNA phylogenetic comparisons have shown that morphology-based species recognition often underestimates fungal diversity. Therefore, the need for accurate DNA sequence data, tied to both correct taxonomic names and clearly annotated specimen data, has never been greater. Furthermore, the growing number of molecular ecology and microbiome projects using high-throughput sequencing require fast and effective methods for en masse species assignments. In this article, we focus on selecting and re-annotating a set of marker reference sequences that represent each currently accepted order of Fungi. The particular focus is on sequences from the internal transcribed spacer region in the nuclear ribosomal cistron, derived from type specimens and/or ex-type cultures. Re-annotated and verified sequences were deposited in a curated public database at the National Center for Biotechnology Information (NCBI), namely the RefSeq Targeted Loci (RTL) database, and will be visible during routine sequence similarity searches with NR_prefixed accession numbers. A set of standards and protocols is proposed to improve the data quality of new sequences, and we suggest how type and other reference sequences can be used to improve identification of Fungi.
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| 6. |
- Awad, Sherif, et al.
(författare)
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A meta-analysis of randomised controlled trials on preoperative oral carbohydrate treatment in elective surgery
- 2013
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Ingår i: Clinical Nutrition. - : Elsevier BV. - 0261-5614 .- 1532-1983. ; 32:1, s. 34-44
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Forskningsöversikt (refereegranskat)abstract
- BACKGROUND & AIMS: Whilst preoperative carbohydrate treatment (PCT) results in beneficial physiological effects, the effects on postoperative clinical outcomes remain unclear and were studied in this meta-analysis.METHODS: Prospective studies that randomised adult non-diabetic patients to either PCT (≥50 g oral carbohydrates 2-4 h pre-anaesthesia) or control (fasted/placebo) were included. The primary outcome was length of hospital stay. Secondary outcomes included development of postoperative insulin resistance, complications, nausea and vomiting. Methodological quality was assessed using GRADEpro(®) software.RESULTS: Twenty-one randomised studies of 1685 patients (733 PCT: 952 control) were included. No overall difference in length of stay was noted for analysis of all studies or subgroups of patients undergoing surgery with an expected hospital stay ≤2 days or orthopaedic procedures. However, patients undergoing major abdominal surgery following PCT had reduced length of stay [mean difference, 95% confidence interval: -1.08 (-1.87 to -0.29); I(2) = 60%, p = 0.007]. PCT reduced postoperative insulin resistance with no effects on in-hospital complications over control (risk ratio, 95% confidence interval, 0.88 (0.50-1.53), I(2) = 41%; p = 0.640). There was significant heterogeneity amongst studies and, therefore, quality of evidence was low to moderate.CONCLUSIONS: PCT may be associated with reduced length of stay in patients undergoing major abdominal surgery, however, the included studies were of low to moderate quality.
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| 7. |
- Calderon, Robert H., et al.
(författare)
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A conserved rubredoxin is necessary for photosystem II accumulation in diverse oxygenic photoautotrophs
- 2013
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Ingår i: Journal of Biological Chemistry. - : American Society for Biochemistry and Molecular Biology. - 0021-9258 .- 1083-351X. ; 288:37, s. 26688-26696
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Tidskriftsartikel (refereegranskat)abstract
- In oxygenic photosynthesis, two photosystems work in tandem to harvest light energy and generate NADPH and ATP. Photosystem II (PSII), the protein-pigment complex that uses light energy to catalyze the splitting of water, is assembled from its component parts in a tightly regulated process that requires a number of assembly factors. The 2pac mutant of the unicellular green alga Chlamydomonas reinhardtii was isolated and found to have no detectable PSII activity, whereas other components of the photosynthetic electron transport chain, including photosystem I, were still functional. PSII activity was fully restored by complementation with the RBD1 gene, which encodes a small iron-sulfur protein known as a rubredoxin. Phylogenetic evidence supports the hypothesis that this rubredoxin and its orthologs are unique to oxygenic phototrophs and distinct from rubredoxins in Archaea and bacteria (excluding cyanobacteria). Knockouts of the rubredoxin orthologs in the cyanobacterium Synechocystis sp. PCC 6803 and the plant Arabidopsis thaliana were also found to be specifically affected in PSII accumulation. Taken together, our data suggest that this rubredoxin is necessary for normal PSII activity in a diverse set of organisms that perform oxygenic photosynthesis.
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| 8. |
- Dinesh, V Sai Krishna, et al.
(författare)
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Online assessment of practical knowledge in electronics laboratory
- 2010
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Konferensbidrag (refereegranskat)abstract
- Increasing globalization and opportunities for engineers around the world to work or study anywhere mean challenges for universities wanting the best students as well as for the companies wanting for the most skilled staff. The social and economic conditions of the country where the student has studied have an impact on his level of knowledge though the attained degree is similar in all countries. It is not enough to use scores as a base for decisions. Some tests for software courses, English language etc. exists. Now the challenge is to design and implement a common test to analyze the knowledge of the student/ test taker and certify him in performing laboratory work and operating electronic instruments. A solution to overcome the problem of recruiting companies in this global market as well as the universities to select the meritorious from worldwide would be by implementing a Common Electronics Lab Operation Test. A test with the operation of the equipment in electronics laboratory has importance as test takers are tested in their knowledge with practical equipment using simulated and remote labs which are identical to the operation of real. The testing system is proposed to be developed using latest remotely operated real labs
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