| 1. |
- Ballantyne, Kaye N., et al.
(author)
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Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- 2014
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In: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 35:8, s. 1021-1032
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Journal article (peer-reviewed)abstract
- Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.
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| 2. |
- Bengtsson, Stefan, 1961, et al.
(author)
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Carbon-based nanoelectromechanical devices
- 2011
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In: International Journal of High Speed Electronics and Systems. - 1793-6438. ; 20:1, s. 195-204
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Journal article (peer-reviewed)abstract
- Carbon-based nanoelectromechanical devices are approaching applications in electronics. Switches based on individual carbon nanotubes deliver record low off-state leakage currents. Arrays of vertically aligned carbon nanotubes or nanofibers can be fabricated to constitute varactors. Very porous, low density arrays of quasi-vertically aligned arrays of carbon nanotubes behave mechanically as a single unit with very unusual material properties.
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| 3. |
- Boman, Kurt, et al.
(author)
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Robot-Assisted Remote Echocardiographic Examination and Teleconsultation : A Randomized Comparison of Time to Diagnosis With Standard of Care Referral Approach
- 2014
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In: JACC Cardiovascular Imaging. - : Elsevier BV. - 1936-878X .- 1876-7591. ; 7:8, s. 799-803
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Journal article (peer-reviewed)abstract
- The strategy using cardiological consultation in addition to the robot-assisted remote echocardiography at a distance was tested in a prospective, randomized open-Label trial to evaluate its feasibility and to define its clinical value in a rural area. The present study involved 1 primary healthcare center in the north of Sweden, 135 miles from the hospital where the echocardiograms and the cardiology teleconsultation were performed tong distance in real time. Nineteen patients were randomized to remote consultation and imaging, and 19 to the standard of care consultation. The total process time was significantly reduced in the former arm (median 114 days vs. 26.5 days; p < 0.001). The time from randomization until attaining a specialist consultation was also significantly reduced (p < 0.001). The patients satisfaction was reassuring; they considered that the remote consultation strategy offered an increased rapidity of diagnosis and the likelihood of receiving faster management compared with the standard of care at the primary healthcare center.
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| 4. |
- Cederholm, Jan, et al.
(author)
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Blood pressure and risk of cardiovascular diseases in type 2 diabetes : further findings from the Swedish National Diabetes Register (NDR-BP II)
- 2012
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In: Journal of Hypertension. - 0263-6352 .- 1473-5598. ; 30:10, s. 2020-2030
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Journal article (peer-reviewed)abstract
- Objectives: Estimate risks of coronary heart disease (CHD), stroke and cardiovascular disease (CVD) with updated mean systolic (SBP) and diastolic (DBP) blood pressure in an observational study of patients with type 2 diabetes. Methods: Thirty-five thousand and forty-one patients treated with antihypertensive drugs, and 18 512 untreated patients, aged 30-75 years, without previous heart failure, followed for 6 years until 2009. Results: In treated patients, nonlinear splines for 6-year risk of fatal/nonfatal CHD, stroke and CVD by BP as a continuous variable showed a progressive increase with higher SBP from 140 mmHg and higher, and with DBP from 80 mmHg, with a J-shaped risk curve at lowest SBP levels, but not obviously at lowest DBP levels. Analysing intervals of SBP with 130-134 mmHg as reference at Cox regression, adjusted hazard ratios (HR) for fatal/nonfatal CHD, stroke and CVD with at least 140 mmHg were 1.22 [95% confidence interval (CI): 1.08-1.39], 1,43 (1.18-1.72), 1.26 (1.13-1.41), all P<0.001. HR with 115-129 and 135-139 mmHg were nonsignificant, whereas increased with 100-114 mmHg, 1.96 (P<0.001), 1.75 (P=0.02), 2.08 (P < 0.001), respectively. With DBP 75-79 mmHg as reference, adjusted HR for fatal/nonfatal CHD, stroke and CVD with DBP 80-84 mmHg were 1.42 (1.26-1.59), 1.46 (1.24-1.72), 1.39 (1.26-1.53), all P< 0.001. Corresponding HR with DBP at least 85 mmHg were 1.70 (1.50-1.92), 2.35 (1.99-2.77), 1..87 (1.69-2.07), all P < 0.001. Corresponding HR with DBP 60-69 and 70-74 mmHg were nonsignificant. The picture was similar in 7059 patients with previous CVD and in untreated patients. Conclusion: BP around 130-135/75-79 mmHg showed lower risks of cardiovascular diseases in patients with type 2 diabetes.
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| 5. |
- Cederholm, Jan, et al.
(author)
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Systolic blood pressure and risk of cardiovascular diseases in type 2 diabetes : an observational study from the Swedish national diabetes register
- 2010
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In: Journal of Hypertension. - 0263-6352 .- 1473-5598. ; 28:10, s. 2026-2035
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Journal article (peer-reviewed)abstract
- Objectives: To estimate risks of fatal/nonfatal coronary heart disease (CHD), stroke and cardiovascular disease (CVD) with SBP in an observational study of patients with type 2 diabetes. Methods: Twelve thousand, six hundred and seventy-seven patients aged 30–75 years, treated with antihypertensive drugs, without previous congestive heart failure, followed for 5 years. Results: Risk curves of CHD and stroke increased progressively with higher baseline or updated mean SBP in a Cox model, in all participants, and in two subgroups without (n = 10 304) or with (n = 2373) a history of CVD, with no J-shaped risk curves at low SBP levels. Hazard ratios for CHD and stroke per 10-mmHg increase in updated mean SBP in all participants, adjusting for clinical characteristics and traditional risk factors, were 1.08 (1.04–1.13) and 1.20 (1.13–1.27), P < 0.001. With updated mean SBP of 110–129 mmHg as reference, SBP of at least 140 mmHg showed risk increases of 37% for CHD, 86% for stroke and 44% for CVD (P = 0.001 to <0.001), whereas SBP of 130–139 mmHg showed nonsignificant risk increases for these outcomes. With baseline SBP of 110–129 mmHg, CHD and CVD risks increased with further SBP reduction, hazard ratios were 1.77 and 1.73 (P = 0.002), but decreased considerably for CHD, stroke and CVD with higher baseline SBP. Conclusion: Risks of CHD and stroke increased progressively with higher SBP, with no J-shaped curves, although risk increase was significant only for SBP of at least 140 mmHg, but not comparing 130–139 and 110–129 mmHg. Additionally, baseline SBP of 110–129 mmHg showed increased CHD and CVD risk with further SBP reduction during follow-up, whereas baseline SBP of at least 130 showed benefits.
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| 8. |
- Eggers, Kai M., 1962-, et al.
(author)
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Growth-differentiation factor-15 for long-term risk prediction in patients stabilized after an episode of non-ST-segment-elevation acute coronary syndrome
- 2010
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In: Circulation: Cardiovascular Genetics. - 1942-3268. ; 3:1, s. 88-96
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Journal article (peer-reviewed)abstract
- BACKGROUND: Growth-differentiation factor-15 (GDF-15) has emerged as a prognostic biomarker in patients with non-ST-segment-elevation acute coronary syndrome. This study assessed the time course and the long-term prognostic relevance of GDF-15 levels measured repetitively in patients with non-ST-segment-elevation acute coronary syndrome during 6 months after the acute event. METHODS AND RESULTS: GDF-15 and other biomarkers were measured at randomization, after 6 weeks, and after 3 and 6 months in 950 patients with non-ST-segment-elevation acute coronary syndrome included in the FRagmin and Fast Revascularization during InStability in Coronary artery disease II study. Study end points were death, recurrent myocardial infarction, and their composite during 5-year follow-up. Median GDF-15 levels decreased slightly from 1357 ng/L at randomization to 1302 ng/L at 6 months (P<0.001). GDF-15 was consistently related to cardiovascular risk factors and biochemical markers of hemodynamic stress, renal dysfunction, and inflammation. Moreover, GDF-15 was independently related to the 5-year risk of the composite end point when measured at both 3 months (adjusted hazard ratio, 1.8 [1.0 to 3.0]) and 6 months (adjusted hazard ratio, 2.3 [1.3 to 4.1]). Serial measurements of GDF-15 at randomization and 6 months helped to identify patient cohorts at different levels of risk, with patients with persistently elevated GDF-15 levels >1800 ng/L having the highest rate of the composite end point. CONCLUSIONS: GDF-15 is independently related to adverse events in non-ST-segment-elevation acute coronary syndrome both in the acute setting and for at least 6 months after clinical stabilization. Therefore, continued research on GDF-15 should be focused on the usefulness of GDF-15 for support of clinical management in acute and chronic ischemic heart disease.
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| 9. |
- Einarsdottir, Berglind Osk, 1979, et al.
(author)
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Melanoma patient-derived xenografts accurately model the disease and develop fast enough to guide treatment decisions.
- 2014
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In: Oncotarget. - : Impact Journals, LLC. - 1949-2553. ; 5:20, s. 9609-18
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Journal article (peer-reviewed)abstract
- The development of novel therapies against melanoma would benefit from individualized tumor models to ensure the rapid and accurate identification of biomarkers of therapy response. Previous studies have suggested that patient-derived xenografts (PDXes) could be useful. However, the utility of PDXes in guiding real-time treatment decisions has only been reported in anecdotal forms. Here tumor biopsies from patients with stage III and IV metastatic malignant melanoma were transplanted into immunocompromised mice to generate PDXes. 23/26 melanoma biopsies generated serially transplantable PDX models, and their histology, mutation status and expression profile resembled their corresponding patient biopsy. The potential treatment for one patient was revealed by an in vitro drug screen and treating PDXes with the MEK inhibitor trametinib. In another patient, the BRAF mutation predicted the response of both the patient and its corresponding PDXes to MAPK-targeted therapy. Importantly, in this unselected group of patients, the time from biopsy for generation of PDXes until death was significantly longer than the time required to reach the treatment phase of the PDXes. Thus, it could be clinically meaningful to use this type of platform for melanoma patients as a pre-selection tool in clinical trials.
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| 10. |
- Eriksson, Mats, et al.
(author)
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Blood lipids in 75,048 type 2 diabetic patients: a population-based survey from the Swedish National diabetes register.
- 2011
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In: European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology. - 1741-8275 .- 1741-8267. ; 18:1, s. 97-105
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Journal article (peer-reviewed)abstract
- Type 2 diabetes and diabetic dyslipidemia are high-risk conditions for cardiovascular disease. However, the description of the distribution of blood lipids in diabetic patients has not been based on population-based surveys. The aim of this study was to describe diabetic dyslipidemia in a large unselected sample of patients from the Swedish National Diabetes Register.
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