| 1. |
- Brownstein, Catherine A., et al.
(author)
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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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In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Journal article (peer-reviewed)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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| 3. |
- Maisel, Alan, et al.
(author)
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Effect of Spironolactone on 30-Day Death and Heart Failure Rehospitalization (from the COACH Study)
- 2014
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In: American Journal of Cardiology. - : Elsevier. - 0002-9149 .- 1879-1913. ; 114:5, s. 737-742
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Journal article (peer-reviewed)abstract
- The aim of our study is to investigate the effect of spironolactone on 30-day outcomes in patients with acute heart failure (AHF) and the association between treatment and outcomes stratified by biomarkers. We conducted a secondary analysis of the biomarker substudy of the multicenter COACH (Co-ordinating Study Evaluating Outcomes of Advising and Counseling in Heart Failure) trial involving 534 AHF patients for 30-day mortality and HF rehospitalizations. Spironolactone therapy was initiated and terminated at the discretion of the treating physician; 30-day outcomes were compared between patients who were treated with spironolactone and those who were not. Outcomes with spironolactone therapy. were explored based on N-terminal pro-B-type natriuretic peptide, ST2, galectin-3, and creatinine levels. Spironolactone was prescribed to 297 (55.6%) patients at discharge (158 new and 139 continued). There were 19 deaths and 30 HF rehospitalizations among 46 patients by 30 days. Patients discharged on spironolactone had significantly less 30-day event (hazard ratio 0.538, p = 0.039) after adjustment for multiple risk factors. Initiation of spironolactone in patients who were not on spironolactone before admission was associated with a significant reduction in event rate (hazard ratio 0.362, p = 0.027). The survival benefit of spironolactone was more prominent in patient groups with elevations of creatinine, N-terminal pro B-type natriuretic peptide, ST2, or galectin-3. In conclusion, AHF patients who received spironolactone during hospitalization had significantly fewer 30-day mortality and HF rehospitalizations, especially in high-risk patients.
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| 4. |
- Ulfat, Intikhab, 1966, et al.
(author)
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Estimation of solar energy potential for Islamabad, Pakistan
- 2012
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In: Energy Procedia. - : Elsevier. - 1876-6102. ; 18, s. 1496-1500
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Conference paper (peer-reviewed)abstract
- In order to design a solar energy system with optimized performance a thorough knowledge of solar radiation data for a considerably long period (20-25 years) is a pre-requisite. For developing countries like Pakistan, the need of empirical models to assess the feasibility of solar energy utilization seems inevitable due to the absence and scarcity of trustworthy solar radiation data. We present such models for the capital city of Pakistan, Islamabad to estimate global and diffuse solar radiation. It is found that with the exception of monsoon month, solar energy can be utilized very efficiently throughout the year. The models suggested could be used for most of the north-eastern areas of Pakistan, which are similar to Islamabad with respect to the climate and the availability of solar radiation but lack in the record of solar radiation data.
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| 5. |
- Imran, Z, et al.
(author)
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Fabrication of cadmium titanate nanofibers via electrospinning technique
- 2012
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In: Ceramics International. - : Elsevier. - 0272-8842 .- 1873-3956. ; 38:4, s. 3361-3365
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Journal article (peer-reviewed)abstract
- Here we present an electrospinning technique for the fabrication of cadmium titanate/polyvinyl-pyrrolidone composite nanofibers. The composite nanofibers are then annealed at 600 degrees C to obtain ilmenite rhombohedral phase cadmium titanate nanofibers. The structure, composition, thermal stability and optical properties of as synthesized and annealed cadmium titanate nanofibers are characterized by X-ray diffraction, energy dispersive X-ray spectroscopy, scanning electron microscopy, transmission electron microscopy, thermogravimetric analysis, Fourier transform infrared spectroscopy and ultraviolet-visible spectroscopy. The average diameter and length of the nanofibers are found to be similar to 150-200 nm and similar to 100 mu m, respectively.
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