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- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 6. |
- Allen, Joseph G., et al.
(författare)
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PBDE flame retardants, thyroid disease, and menopausal status in U.S. women
- 2016
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Ingår i: Environmental Health. - : BioMed Central (BMC). - 1476-069X. ; 15:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Women have elevated rates of thyroid disease compared to men. Environmental toxicants have been implicated as contributors to this dimorphism, including polybrominated diphenyl ethers (PBDEs), flame retardant chemicals that disrupt thyroid hormone action. PBDEs have also been implicated in the disruption of estrogenic activity, and estrogen levels regulate thyroid hormones. Post-menopausal women may therefore be particularly vulnerable to PBDE induced thyroid effects, given low estrogen reserves. The objective of this study was to test for an association between serum PBDE concentrations and thyroid disease in women from the United States (U.S.), stratified by menopause status.METHODS: Serum PBDE concentrations (BDEs 47, 99, 100 and 153) from the National Health and Examination Survey (NHANES) and reports on thyroid problems were available in the NHANES 2003-2004 cycle. Odds ratios (ORs) were calculated using multivariate logistic regression models accounting for population-weighted survey techniques and controlling for age, body mass index (BMI), education, smoking, alcohol consumption and thyroid medication. Menopause status was obtained by self-reported absence of menstruation in the previous 12 months and declared menopause.RESULTS: Women in the highest quartile of serum concentrations for BDEs 47, 99, and 100 had increased odds of currently having thyroid disease (ORs: 1.5, 1.8, 1.5, respectively) compared to the reference group (1st and 2nd quartiles combined); stronger associations were observed when the analysis was restricted to postmenopausal women (ORs: 2.2, 3.6, 2.0, respectively).CONCLUSION: Exposure to BDEs 47, 99, and 100 is associated with thyroid disease in a national sample of U.S. women, with greater effects observed post-menopause, suggesting that the disruption of thyroid signaling by PBDEs may be enhanced by the altered estrogen levels during menopause.
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| 7. |
- Billgren, T, et al.
(författare)
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Refinement and interobserver agreement for the electrocardiographic Sclarovsky-Birnbaum Ischemia Grading System
- 2004
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Ingår i: Journal of Electrocardiology. - : Elsevier BV. - 1532-8430 .- 0022-0736. ; 37:3, s. 149-156
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Tidskriftsartikel (refereegranskat)abstract
- Background: Electrocardiogram-derived grades of ischemia at the time of patient presentation with acute myocardial infarction have proved useful in predicting the salvageability by reperfusion therapy, final infarct size, severity of left ventricular dysfunction, and short- and long-term prognosis. Subjects and Methods: The Sclarovsky-Birnbaum Ischemia Grading System based on the relation between the acute appearances of the T wave, the ST segment, and the QRS complex was considered as a means of enhanced ECG analysis in this group of patients. The evaluation of a training population (n = 46) resulted in refinement of the published description of the Sclarovsky-Birnbaum Ischemia Grading System, and a test population (n = 50) was utilized for investigating the interobserver agreement among 5 observers in determining the grade of ischemia. Results: The agreement among the observers applying the "refined" Sclarovsky-Birnbaum Ischemia Grading System was 0.89. Complete agreement was found for the ECGs of 80% of the patients, and the most common reason for disagreement was the application of the terminal T-negativity criterion. Conclusions: The refined Sclarovsky-Birnbaum Ischemia Grading System can be performed manually with low interobserver variability. It has potential for support of the acute myocardial infarction triage decision as an electrocardiographic method for evaluating the level of ischemic protection at the time of either pre-hospital or emergency-department presentation.
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- Dries, Daniel R., et al.
(författare)
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Loss of Nicastrin from Oligodendrocytes Results in Hypomyelination and Schizophrenia with Compulsive Behavior
- 2016
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Ingår i: Journal of Biological Chemistry. - 0021-9258 .- 1083-351X. ; 291:22, s. 11647-11656
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Tidskriftsartikel (refereegranskat)abstract
- The biological underpinnings and the pathological lesions of psychiatric disorders are centuries-old questions that have yet to be understood. Recent studies suggest that schizophrenia and related disorders likely have their origins in perturbed neurodevelopment and can result from a large number of common genetic variants or multiple, individually rare genetic alterations. It is thus conceivable that key neurodevelopmental pathways underline the various genetic changes and the still unknown pathological lesions in schizophrenia. Here, we report that mice defective of the nicastrin subunit of gamma-secretase in oligodendrocytes have hypomyelination in the central nervous system. These mice have altered dopamine signaling and display profound abnormal phenotypes reminiscent of schizophrenia. In addition, we identify an association of the nicastrin gene with a human schizophrenia cohort. These observations implicate gamma-secretase and its mediated neurodevelopmental pathways in schizophrenia and provide support for the "myelination hypothesis" of the disease. Moreover, by showing that schizophrenia and obsessive-compulsive symptoms could be modeled in animals wherein a single genetic factor is altered, our work provides a biological basis that schizophrenia with obsessive-compulsive disorder is a distinct subtype of schizophrenia.
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- González-Gil, E. M., et al.
(författare)
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Reliability of primary caregivers reports on lifestyle behaviours of European pre-school children : the ToyBox-study
- 2014
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Ingår i: Obesity Reviews. - : Wiley-Blackwell. - 1467-7881 .- 1467-789X. ; 15:Suppl 3, s. 61-66
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Tidskriftsartikel (refereegranskat)abstract
- Reliable assessments of health-related behaviours are necessary for accurate evaluation on the efficiency of public health interventions. The aim of the current study was to examine the reliability of a self-administered primary caregivers questionnaire (PCQ) used in the ToyBox-intervention. The questionnaire consisted of six sections addressing sociodemographic and perinatal factors, water and beverages consumption, physical activity, snacking and sedentary behaviours. Parents/caregivers from six countries (Belgium, Bulgaria, Germany, Greece, Poland and Spain) were asked to complete the questionnaire twice within a 2-week interval. A total of 93 questionnaires were collected. Test-retest reliability was assessed using intra-class correlation coefficient (ICC). Reliability of the six questionnaire sections was assessed. A stronger agreement was observed in the questions addressing sociodemographic and perinatal factors as opposed to questions addressing behaviours. Findings showed that 92% of the ToyBox PCQ had a moderate-to-excellent test-retest reliability (defined as ICC values from 0.41 to 1) and less than 8% poor test-retest reliability (ICC < 0.40). Out of the total ICC values, 67% showed good-to-excellent reliability (ICC from 0.61 to 1). We conclude that the PCQ is a reliable tool to assess sociodemographic characteristics, perinatal factors and lifestyle behaviours of pre-school children and their families participating in the ToyBox-intervention.
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