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Author Abraham, G.; Inouye, M. url  openurl
  Title Genomic risk prediction of complex human disease and its clinical application Type Journal Article
  Year 2015 Publication Abbreviated Journal Curr Opin Genet Dev  
  Volume 33 Issue Pages 10-16  
  Keywords  
  Abstract Recent advances in genome-wide association studies have stimulated interest in the genomic prediction of disease risk, potentially enabling individual-level risk estimates for early intervention and improved diagnostic procedures. Here, we review recent findings and approaches to genomic prediction model construction and performance, then contrast the potential benefits of such models in two complex human diseases, aiding diagnosis in celiac disease and prospective risk prediction for cardiovascular disease. Early indications are that optimal application of genomic risk scores will differ substantially for each disease depending on underlying genetic architecture as well as current clinical and public health practice. As costs decline, genomic profiles become common, and popular understanding of risk and its communication improves, genomic risk will become increasingly useful for the individual and the clinician.  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0959-437x ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45437  
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Author ACMG, B. of D. url  openurl
  Title ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing Type Journal Article
  Year 2015 Publication Abbreviated Journal Genet Med  
  Volume 17 Issue 1 Pages 68-69  
  Keywords  
  Abstract DISCLAIMER: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these recommendations.  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1098-3600 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45436  
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Author Abbasi, F.; Azizi, F.; Javaheri, M.; Mosallanejad, A.; Ebrahim-Habibi, A.; Ghafouri-Fard, S. url  openurl
  Title Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family Type Journal Article
  Year 2015 Publication Abbreviated Journal Gene  
  Volume 557 Issue 1 Pages 103-105  
  Keywords  
  Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.10611066del6, p.V355S356del2) is shown to be segregated with the disease in this family.  
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  Corporate Author Thesis  
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  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0378-1119 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45434  
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Author Adamek, M.; Opelz, G.; Klein, K.; Morath, C.; Tran, T.H. url  openurl
  Title A fast and simple method for detecting and quantifying donor-derived cell-free DNA in sera of solid organ transplant recipients as a biomarker for graft function Type Journal Article
  Year 2015 Publication Abbreviated Journal Clin Chem Lab Med  
  Volume Issue Pages  
  Keywords  
  Abstract BACKGROUND: Timely detection of graft rejection is an important issue in the follow-up care after solid organ transplantation. Until now, biopsy has been considered the “gold standard” in the diagnosis of graft rejection. However, non-invasive tests such as monitoring the levels of cell-free DNA (cfDNA) as a sensitive biomarker for graft integrity have attracted increasing interest. The rationale of this approach is that a rejected organ will lead to a significant release of donor-derived cfDNA, which can be detected in the serum of the transplant recipient. METHODS: We have developed a novel quantitative real-time PCR (qPCR) approach for detecting an increase of donor-derived cfDNA in the recipient’s serum. Common insertion/deletion (InDel) genetic polymorphisms, which differ between donor and recipient, are targeted in our qPCR assay. In contrast to some other strategies, no specific donor/recipient constellations such as certain gender combinations or human leukocyte antigen (HLA) discrepancies are required for the application of our test. RESULTS: The method was first validated with serial dilutions of serum mixtures obtained from healthy blood donors and then used to determine donor-derived cfDNA levels in patients’ sera within the first 3 days after their kidney transplantation had been performed. CONCLUSIONS: Our method represents a universally applicable, simple and cost-effective tool which can potentially be used to detect graft dysfunction in transplant recipients.  
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  Series Volume Series Issue Edition  
  ISSN 1434-6621 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45414  
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Author Trivedi, Mahendra Kumar; Branton, Alice; Trivedi, Dahryn; Nayak, Gopal; Saikia, Gunin; Jana, Snehasis url  doi
openurl 
  Title Mass Spectrometry Analysis of Isotopic Abundance of 13C, 2H, or 15N in Biofield Energy Treated Aminopyridine Derivatives Type Journal Article
  Year 2015 Publication American Journal of Physical Chemistry Abbreviated Journal  
  Volume 4 Issue 6 Pages 65-70  
  Keywords Biofield Energy Treatment; 2-Aminopyridine; 2-6-Diaminopyridine; Gas Chromatography-Mass Spectrometry  
  Abstract 2-Aminopyridine (2-AP) and 2,6-diaminopyridine (2,6-DAP) are two derivatives of aminopyridines that act as an important organic intermediates, mostly used in medicines, dyes and organic sensors. The aim of the study was to evaluate the impact of biofield energy treatment on isotopic abundance ratios of 2H/1H, 13C/12C, or 15N/14N, in aminopyridine derivatives using gas chromatography-mass spectrometry (GC-MS). The 2-AP and 2,6-DAP samples were divided into two parts: control and treated. The control sample remained as untreated, while the treated sample was further divided into four groups as T1, T2, T3, and T4. The treated group was subjected to Mr. Trivedi’s biofield energy treatment. The GC-MS spectra of 2-AP and 2,6-DAP showed five and six m/z peaks respectively due to the molecular ion peak and fragmented peaks of aminopyridine derivatives. The isotopic abundance ratio of 2H/1H, 13C/12C, or 15N/14N were calculated for both the derivatives and significant alteration was found in the treated samples as compared to the respective control. The isotopic abundance ratio of 2H/1H, 13C/12C, or 15N/14N in treated samples of 2-AP was decreased by 55.83% in T1 and significantly increased by 202.26% in T4. However, in case of 2,6-DAP, the isotopic abundance ratio of 2H/1H, 13C/12C, and 15N/14N, in the treated sample showed a significant increase (up to 370.54% in T3) with respect to the control. GC-MS data suggested that the biofield energy treatment on aminopyridine derivatives had significantly altered the isotopic abundance of 2H, 13C, or 15N in the treated 2-AP and 2,6-DAP as compared to the control.  
  Address  
  Corporate Author Thesis  
  Publisher Science Publishing Group Place of Publication United States Editor  
  Language English Summary Language English Original Title Mass Spectrometry Analysis of Isotopic Abundance of 13C, 2H, or 15N in Biofield Energy Treated Aminopyridine Derivatives  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2327-2430 (Print); 2327-2449 (Online) ISBN Medium  
  Area Organic Compounds Expedition Conference  
  Notes Approved yes  
  Call Number Trivedi Global Inc. @ gopal @ Serial (down) 45361  
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Author Surinova, S.; Choi, M.; Tao, S.; Schüffler, P.J.; Chang, C.Y.; Clough, T.; Vysloužil, K.; Khoylou, M.; Srovnal, J.; Liu, Y.; Matondo, M.; Hüttenhain, R.; Weisser, H.; Buhmann, J.M.; Hajdúch, M.; Brenner, H.; Vitek, O.; Aebersold, R. url  openurl
  Title Prediction of colorectal cancer diagnosis based on circulating plasma proteins Type Journal Article
  Year 2015 Publication Abbreviated Journal EMBO Mol Med  
  Volume 7 Issue 9 Pages 1166-1178  
  Keywords  
  Abstract Non-invasive detection of colorectal cancer with blood-based markers is a critical clinical need. Here we describe a phased mass spectrometry-based approach for the discovery, screening, and validation of circulating protein biomarkers with diagnostic value. Initially, we profiled human primary tumor tissue epithelia and characterized about 300 secreted and cell surface candidate glycoproteins. These candidates were then screened in patient systemic circulation to identify detectable candidates in blood plasma. An 88-plex targeting method was established to systematically monitor these proteins in two large and independent cohorts of plasma samples, which generated quantitative clinical datasets at an unprecedented scale. The data were deployed to develop and evaluate a five-protein biomarker signature for colorectal cancer detection.  
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  Notes Approved no  
  Call Number UofT @ ankit.sinha @ Serial (down) 45345  
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Author Rutten, M.J.; Sonke, G.S.; Westermann, A.M.; van Driel, W.J.; Trum, J.W.; Kenter, G.G.; Buist, M.R. url  openurl
  Title Prognostic Value of Residual Disease after Interval Debulking Surgery for FIGO Stage IIIC and IV Epithelial Ovarian Cancer Type Journal Article
  Year 2015 Publication Abbreviated Journal Obstet Gynecol Int  
  Volume 2015 Issue Pages 464123  
  Keywords  
  Abstract Although complete debulking surgery for epithelial ovarian cancer (EOC) is more often achieved with interval debulking surgery (IDS) following neoadjuvant chemotherapy (NACT), randomized evidence shows no long-term survival benefit compared to complete primary debulking surgery (PDS). We performed an observational cohort study of patients treated with debulking surgery for advanced EOC to evaluate the prognostic value of residual disease after debulking surgery. All patients treated between 1998 and 2010 in three Dutch referral gynaecological oncology centres were included. The prognostic value of residual disease after surgery for disease specific survival was assessed using Cox-regression analyses. In total, 462 patients underwent NACT-IDS and 227 PDS. Macroscopic residual disease after debulking surgery was an independent prognostic factor for survival in both treatment modalities. Yet, residual tumour less than one centimetre at IDS was associated with a survival benefit of five months compared to leaving residual tumour more than one centimetre, whereas this benefit was not seen after PDS. Leaving residual tumour at IDS is a poor prognostic sign as it is after PDS. The specific prognostic value of residual tumour seems to depend on the clinical setting, as minimal instead of gross residual tumour is associated with improved survival after IDS, but not after PDS.  
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  Notes Approved no  
  Call Number UofT @ ankit.sinha @ Serial (down) 45336  
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Author Øverbye, A.; Skotland, T.; Koehler, C.J.; Thiede, B.; Seierstad, T.; Berge, V.; Sandvig, K.; Llorente, A. url  openurl
  Title Identification of prostate cancer biomarkers in urinary exosomes Type Journal Article
  Year 2015 Publication Abbreviated Journal Oncotarget  
  Volume 6 Issue 30 Pages 30357-30376  
  Keywords  
  Abstract Exosomes have recently appeared as a novel source of non-invasive cancer biomarkers since tumour-specific molecules can be found in exosomes isolated from biological fluids. We have here investigated the proteome of urinary exosomes by using mass spectrometry to identify proteins differentially expressed in prostate cancer patients compared to healthy male controls. In total, 15 control and 16 prostate cancer samples of urinary exosomes were analyzed. Importantly, 246 proteins were differentially expressed in the two groups. The majority of these proteins (221) were up-regulated in exosomes from prostate cancer patients. These proteins were analyzed according to specific criteria to create a focus list that contained 37 proteins. At 100% specificity, 17 of these proteins displayed individual sensitivities above 60%. Even though several of these proteins showed high sensitivity and specificity for prostate cancer as individual biomarkers, combining them in a multi-panel test has the potential for full differentiation of prostate cancer from non-disease controls. The highest sensitivity, 94%, was observed for transmembrane protein 256 (TM256; chromosome 17 open reading frame 61). LAMTOR proteins were also distinctly enriched with very high specificity for patient samples. TM256 and LAMTOR1 could be used to augment the sensitivity to 100%. Other prominent proteins were V-type proton ATPase 16 kDa proteolipid subunit (VATL), adipogenesis regulatory factor (ADIRF), and several Rab-class members and proteasomal proteins. In conclusion, this study clearly shows the potential of using urinary exosomes in the diagnosis and clinical management of prostate cancer.  
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  Call Number UofT @ ankit.sinha @ Serial (down) 45334  
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Author Ferlay, J.; Soerjomataram, I.; Dikshit, R.; Eser, S.; Mathers, C.; Rebelo, M.; Parkin, D.M.; Forman, D.; Bray, F. url  openurl
  Title Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012 Type Journal Article
  Year 2015 Publication Abbreviated Journal Int J Cancer  
  Volume 136 Issue 5 Pages E359-86  
  Keywords  
  Abstract Estimates of the worldwide incidence and mortality from 27 major cancers and for all cancers combined for 2012 are now available in the GLOBOCAN series of the International Agency for Research on Cancer. We review the sources and methods used in compiling the national cancer incidence and mortality estimates, and briefly describe the key results by cancer site and in 20 large “areas” of the world. Overall, there were 14.1 million new cases and 8.2 million deaths in 2012. The most commonly diagnosed cancers were lung (1.82 million), breast (1.67 million), and colorectal (1.36 million); the most common causes of cancer death were lung cancer (1.6 million deaths), liver cancer (745,000 deaths), and stomach cancer (723,000 deaths).  
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  Notes Approved no  
  Call Number UofT @ ankit.sinha @ Serial (down) 45319  
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Author Pinho, S.S.; Reis, C.A. url  openurl
  Title Glycosylation in cancer: mechanisms and clinical implications Type Journal Article
  Year 2015 Publication Abbreviated Journal Nat Rev Cancer  
  Volume 15 Issue 9 Pages 540-555  
  Keywords  
  Abstract Despite recent progress in understanding the cancer genome, there is still a relative delay in understanding the full aspects of the glycome and glycoproteome of cancer. Glycobiology has been instrumental in relevant discoveries in various biological and medical fields, and has contributed to the deciphering of several human diseases. Glycans are involved in fundamental molecular and cell biology processes occurring in cancer, such as cell signalling and communication, tumour cell dissociation and invasion, cell-matrix interactions, tumour angiogenesis, immune modulation and metastasis formation. The roles of glycans in cancer have been highlighted by the fact that alterations in glycosylation regulate the development and progression of cancer, serving as important biomarkers and providing a set of specific targets for therapeutic intervention. This Review discusses the role of glycans in fundamental mechanisms controlling cancer development and progression, and their applications in oncology.  
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  Notes Approved no  
  Call Number UofT @ ankit.sinha @ Serial (down) 45283  
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