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| 12. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 13. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 14. |
- Bouyoucef, S E, et al.
(författare)
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Poster Session 2 : Monday 4 May 2015, 08
- 2015
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Ingår i: European Heart Journal Cardiovascular Imaging. - : Oxford University Press (OUP). - 2047-2404 .- 2047-2412. ; 16 Suppl 1
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Tidskriftsartikel (refereegranskat)
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| 15. |
- Nolte, I. M., et al.
(författare)
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 individuals of European ancestry, we detect 17 genome-wide significant SNPs in eight loci. HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expression quantitative trait loci (eQTLs) (influencing GNG11, RGS6 and NEO1), or are located in genes preferentially expressed in the sinoatrial node (GNG11, RGS6 and HCN4). Genetic risk scores account for 0.9 to 2.6% of the HRV variance. Significant genetic correlation is found for HRV with heart rate (-0.74 < r(g) < -0.55) and blood pressure (-0.35 < r(g) < -0.20). These findings provide clinically relevant biological insight into heritable variation in vagal heart rhythm regulation, with a key role for genetic variants (GNG11, RGS6) that influence G-protein heterotrimer action in GIRK-channel induced pacemaker membrane hyperpolarization.
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| 16. |
- Kiviniemi, T., et al.
(författare)
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A randomized prospective multicenter trial for stroke prevention by prophylactic surgical closure of the left atrial appendage in patients undergoing bioprosthetic aortic valve surgery––LAA-CLOSURE trial protocol
- 2021
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Ingår i: American Heart Journal. - : Elsevier BV. - 0002-8703 .- 1097-6744. ; 237, s. 127-134
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Tidskriftsartikel (refereegranskat)abstract
- Patients undergoing surgical aortic valve replacement (SAVR) are at high risk for atrial fibrillation (AF) and stroke after surgery. There is an unmet clinical need to improve stroke prevention in this patient population. The LAA-CLOSURE trial aims to assess the efficacy and safety of prophylactic surgical closure of the left atrial appendage for stroke and cardiovascular death prevention in patients undergoing bioprosthetic SAVR. This randomized, open-label, prospective multicenter trial will enroll 1,040 patients at 13 European sites. The primary endpoint is a composite of cardiovascular mortality, stroke and systemic embolism at 5 years. Secondary endpoints include cardiovascular mortality, stroke, systemic embolism, bleed fulfilling academic research consortium (BARC) criteria, hospitalization for decompensated heart failure and health economic evaluation. Sample size is based on 30% risk reduction in time to event analysis of primary endpoint. Prespecified reports include 30-day safety analysis focusing on AF occurrence and short-term outcomes and interim analyses at 1 and 3 years for primary and secondary outcomes. Additionally, substudies will be performed on the completeness of the closure using transesophageal echocardiography/cardiac computed tomography and long-term ECG recording at one year after the operation. © 2021 The Author(s)
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| 17. |
- Johnson, Thomas, et al.
(författare)
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Numerical Modelling of Ripple Induced Transport
- 2006
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Ingår i: Proceedings of the 33rd EPS Conference on Plasma Physics. - 9781622763337 ; , s. 408-411
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The ASCOT code has been used to analyse transport and calculate the thermal conductivity in plasmas with toroidal field ripple. The scaling of the thermal conductivity with dimensionless plasma parameters is similar to transport in the ripple plateau regime [1]. The ripple in machines with toroidal field coils similar to those in JET and JT-60U are quite different; while the maximum ripple is larger with 16 JET coils, the ripple at the X-point is larger with the JT-60U coils. The results are that the heat conductivity is similar in the two plasmas, while the particle losses are higher with the JT-60U coils.
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| 18. |
- Lonnroth, J. S., et al.
(författare)
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Effects of ripple-induced ion thermal transport on H-mode plasma performance
- 2007
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Ingår i: Plasma Physics and Controlled Fusion. - : IOP Publishing. - 0741-3335 .- 1361-6587. ; 49:3, s. 273-295
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Tidskriftsartikel (refereegranskat)abstract
- A recent series of dimensionless pedestal identity experiments at JET and JT-60U failed to produce a match in the dimensional pedestal parameters and edge-localized mode (ELM) frequency despite a good match in the main dimensionless plasma parameters. This paper describes the progress made in understanding these experimental results. First, it is investigated whether differences in the magnetohydrodynamic stability of the pedestal, including those potentially arising from the 10% difference in the aspect ratio between the two tokamaks, can explain the results. The potential effects of differences in plasma rotation between the two machines are also examined. Given the result that these mechanisms fail to explain the experimental observations and the fact that JT-60U features considerably stronger toroidal magnetic field ripple than JET, the bulk of the paper, however, discusses the effects of ripple losses. The analysis shows that ripple losses of thermal ions can affect H-mode plasma performance very sensitively. Orbit-following simulations indicate that losses due to diffusive transport give rise to a wide radial distribution of enhanced ion thermal transport, whereas non-diffusive losses have a very edge-localized distribution. In predictive transport simulations with an energy sink term in the continuity equation for the ion pressure representing non-diffusive losses, reduced performance as well as an increase in the ELM
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| 19. |
- Lönnroth, J. -S, et al.
(författare)
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Integrated ELM modelling
- 2006
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Ingår i: Contributions to Plasma Physics. - : Wiley. - 0863-1042 .- 1521-3986. ; 46:7-9, s. 726-738
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a short overview of current trends and progress in integrated ELM modelling. First, the concept of integrated ELM modelling is introduced, various interpretations of it are given and the need for it is discussed. Then follows an overview of different techniques and methods used in integrated ELM modelling presented roughly according to physics approached in use and in order of increasing complexity. The paper concludes with a short discussion of open issues and future modelling requirements within the field of integrated ELM modelling.
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- Salmi, A., et al.
(författare)
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ASCOT modelling of ripple effects on toroidal torque
- 2008
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Ingår i: Contributions to Plasma Physics. - : Wiley. - 0863-1042 .- 1521-3986. ; 48:1-3, s. 77-81
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Tidskriftsartikel (refereegranskat)abstract
- Toroidal field ripple, delta=(B-max-B-min)/(B-max+B-min) in ITER will be relatively large, about 0.5% at the outer midplane. Due to the importance of toroidal rotation on plasma stability and confinement it is important to understand the consequences of a non-negligible ripple field on rotation. Guiding centre following Monte Carlo code ASCOT is used to evaluate the torque on plasma from co-current NBI in presence of toroidal magnetic field ripple. Simulations are made for a JET discharge from 2007 Ripple Campaign aimed to clarify the effect of ripple on fusion plasmas in preparation for ITER. ASCOT results show large reduction of torque from co-NBI and negative torque from thermal ions, which together could create a counter rotating edge plasma.
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| 24. |
- Becker, Charlotte, et al.
(författare)
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Sensitive and specific immunodetection of human glandular kallikrein 2 in serum
- 2000
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Ingår i: Clinical Chemistry. - 0009-9147. ; 46:2, s. 198-206
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Human glandular kallikrein 2 (hK2) is expressed in the prostate and is present in serum from men with prostate cancer. Specific detection in serum is difficult mainly because of low concentrations and immunological cross-reactivity with prostate-specific antigen (PSA). Our objectives were to design an assay with improved analytical detection and functional sensitivity and nonsignificant cross-reactivity with PSA, and to characterize different immunoreactive forms of hK2. METHODS: In the assay, critical PSA epitopes were blocked with four monoclonal antibodies (MAbs) specific for PSA. Subsequently, hK2 was captured using a MAb against hK2 (5% cross-reactivity with PSA), and after washing, hK2 was detected by a europium-labeled MAb with identical affinity for hK2 and PSA. RESULTS: The analytical detection limit was <10 ng/L, and functional sensitivity was 30 ng/L. Cross-reaction with PSA was <0.01%. Between-assay imprecision was 3.1% for 1600 ng/L hK2 and 4. 8% for 160 ng/L hK2; corresponding values for within-assay precision were 1.9% and 4.5%, respectively. Complexes of hK2-alpha(1)-antichymotrypsin (ACT) were detected in vitro with -6% bias compared with the free form of hK2. Gel filtration of patient samples showed that hK2 correlated in size mainly with free hK2; only 4-19% corresponded to hK2 possibly complexed with ACT or protein C inhibitor. CONCLUSIONS: Our assay had extremely low cross-reactivity with PSA, provided a very low detection limit, and allowed close to equimolar detection of the free and complexed forms of hK2. Moreover, we found that free hK2 is the predominant immunoreactive form of hK2 in serum.
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| 25. |
- Ham, C. J., et al.
(författare)
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Towards understanding reactor relevant tokamak pedestals
- 2021
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 61:9
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Tidskriftsartikel (refereegranskat)abstract
- The physics of the tokamak pedestal is still not fully understood, for example there is no fully predictive model for the pedestal height and width. However, the pedestal is key in determining the fusion power for a given scenario. If we can improve our understanding of reactor relevant pedestals we will improve our confidence in designing potential fusion power plants. Work has been carried out as part of a collaboration on reactor relevant pedestal physics. We report some of the results in detail here and review some of the wider work which will be reported in full elsewhere. First, we attempt to use a gyrokinetic-based calculation to eliminate the pedestal top density as a model input for Europed/EPED pedestal predictions. We assume power balance at the top of the pedestal, that is, the heat flux crossing the separatrix must be equal to the heat source at the top of the pedestal and investigate the consequences of this assumption. Unfortunately, the transport assumptions of the EPED model mean that this method does not discriminate between different pairs of density and temperature profiles for a given pressure profile. Second, we investigate the effects of non flux surface density on the bootstrap current. Third, type I ELMs will not be tolerable for a reactor relevant regime due to the damage that they are expected to cause to plasma facing components. In recent years various methods of running tokamak plasmas without large ELMs have been developed. These include small and no ELM regimes, the use of resonant magnetic perturbations and the use of vertical kicks. We discuss the quiescent H-mode here. Finally we give a summary and directions for future work.
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| 28. |
- Mainini, A. G., et al.
(författare)
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Demonstration in Relevant Environments
- 2022
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Ingår i: SpringerBriefs in Applied Sciences and Technology. - Cham : Springer Science and Business Media Deutschland GmbH. ; , s. 95-119
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Bokkapitel (refereegranskat)abstract
- Three building case studies were chosen with the purpose of demonstrating the BIM4EEB BIM-based toolkit. The selected buildings are both social houses and residential apartments respecting the needs of vulnerable inhabitants. To increase the representativeness of the test case the buildings are located in three different locations with different climatic conditions, specifically Italy, Poland, Finland. For all the case studies analysed, BIM models were created with different levels of detail (LOD), which, thanks to the interaction with the BIMMS, make it possible to create a common environment for the representation and use of the data collected and subsequently shared between the different tools. Among the three demonstration sites, the Italian site is undergoing building envelope renovation interventions such as the realization of the thermal insulation with ETICS technologies and the replacement of external windows. In order to test the different tools, a demonstration procedure has been defined for them, constituted mainly by workshop activities and quantitative and qualitative evaluations. To assess the level of accomplishment with respect to stated objectives and project success a validation methodology based on Key Performance Indicators (KPIs) was delineated. Precisely, two categories of KPIs have been identified: “mandatory” and “secondary” addressing project objectives and in connection with the literature review and project use cases and tools. To calculate the KPIs standard baselines were estimated, such as are currently in an ongoing process to assess the traditional process that can be compared with the actual value associated with the BIM-based process. The chapter will present the methods and the first intermediate results of a demonstration process that is currently not yet completed and will later see a further application of the tools in dedicated demo sites. Environmental monitoring sensors were installed in selected apartments in Polish and Italian demo site, while were installed in common spaces for the Finnish building. Specific sensors set up have been analysed and chosen to fulfil the different needs related to the specific project outcomes. Inhabitants’ availability, technical condition and flat exposition were criteria followed for the choice of apartments. Sensors allowed to improve the occupancy monitoring and to have a historical record of environmental values such as temperature, humidity and light strictly connected to users’ preferences. The mobile application about renovation activities performed and residents’ indoor home conditions—BIM4Occupants—has been installed by the users and specific workshops with inhabitants were carried out for registration purposes. The BIM Management System is currently collecting sensors’ data stream and data stream between tools such as BIM4Occupants and BIMPlanner. Project monitoring and better communication among users were tested in a different workshop by applying the BIMPlanner tool in the plans and progress site operations. The functionalities of the refurbishment scenario simulation tool—BIMeaser—were tested in qualitative and quantitative design workshops respectively with the construction professionals using the two pilot sites in Italy and in Finland and with the aim of assessing the achieved time savings of using this tool compared to the manual data input process of the scenario simulation. © 2022, The Author(s).
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| 29. |
- Ollila, MM, et al.
(författare)
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Effect of polycystic ovary syndrome on cardiac autonomic function at a late fertile age: a prospective Northern Finland Birth Cohort 1966 study
- 2019
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Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 9:12, s. e033780-
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies of women in their 20s and 30s have reported impaired autonomic function in women with polycystic ovary syndrome (PCOS). We aimed to study, for the first time, whether PCOS is associated with impaired cardiac autonomic function independent of metabolic and hormonal status in their late reproductive years.DesignA prospective Northern Finland Birth Cohort 1966 (NFBC1966) study including 5889 women born in 1966 and followed through the age of 46. At that age, n=3706/5123 women (72%) answered the postal questionnaires and n=3280/5123 women (64%) participated in the clinical examination.SettingGeneral community.ParticipantsThe sample included women presenting both irregular menses (oligomenorrhoea or amenorrhoea) and hirsutism at age 31 (n=125) or with formally diagnosed PCOS by age 46 (n=181) and women without PCOS symptoms or diagnosis (n=1577).Primary and secondary outcome measuresHeart rate variability parameters: the root mean square of successive R-R differences (rMSSD), spectral power densities (LF: low frequency and HF: high frequency) and baroreflex sensitivity (BRS).ResultsWe found that parasympathetic activity (assessed by rMSSD: 19.5 (12.4; 31.9) vs 24.3 (16.1; 34.8) ms, p=0.004 and HF: 172 (75; 399) vs 261 (112; 565) ms2, p=0.002) and BRS (6.13±3.12 vs 6.99±3.52 ms/mm Hg, p=0.036) were lower in women with PCOS compared with the controls. However, in the multivariate regression analysis, PCOS, body mass index and the free androgen index did not significantly associate with rMSSD, whereas blood pressure, insulin resistance and triglycerides did.ConclusionsWe report here for the first time that late reproductive-aged women with PCOS display impaired cardiac autonomic function manifested as decreased vagal activity. Metabolic status, rather than hyperandrogenaemia and PCOS per se, was the strongest contributing factor. Given the link between cardiac morbidity and impaired autonomic function, the findings underline the importance of screening and treating metabolic abnormalities early on in women with PCOS.
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- Savonen, K, et al.
(författare)
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The current standard measure of cardiorespiratory fitness introduces confounding by body mass : the DR's EXTRA study
- 2012
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Ingår i: International Journal of Obesity. - London : Nature Publishing Group. - 0307-0565 .- 1476-5497. ; 36:8, s. 1135-1140
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE:Cardiorespiratory fitness is currently estimated by dividing maximal oxygen consumption (VO(2max)) by body weight (per-weight standard). However, the statistically correct way to neutralize the effect of weight on VO(2max) in a given population is adjustment for body weight by regression techniques (adjusted standard). Our objective is to quantify the bias introduced by the per-weight standard in a population distributed across different categories of body mass.DESIGN:This is a cross-sectional study.SUBJECTS AND METHODS:Baseline measures from participants of the Dose-Responses to Exercise Training Study (DR's EXTRA), 635 men (body mass index (BMI): 19-47 kg m(-2)) and 638 women (BMI: 16-49 kg m(-2)) aged 57-78 years who performed oral glucose tolerance tests and maximal exercise stress tests with direct measurement of VO(2max). We compare the increase in VO(2max) implied by the per-weight standard with the real increase of VO(2max) per kg body weight. A linear logistic regression model estimates odds for abnormal glucose metabolism (either impaired fasting glycemia or impaired glucose tolerance or Type 2 diabetes) of the least-fit versus most-fit quartile according to both per-weight standard and adjusted standard.RESULTS:The per-weight standard implies an increase of VO(2max) with 20.9 ml min(-1) in women and 26.4 ml min(-1) in men per additional kg body weight. The true increase per kg is only 7.0 ml min(-1) (95% confidence interval: 5.3-8.8) and 8.0 ml min(-1) (95% confidence interval: 5.3-10.7), respectively. Risk for abnormal glucose metabolism in the least-fit quartile of the population is overestimated by 52% if the per-weight standard is used.CONCLUSIONS:In comparisons across different categories of body mass, the per-weight standard systematically underestimates cardiorespiratory fitness in obese subjects. Use of the per-weight standard markedly inflates associations between poor fitness and co-morbidities of obesity.International Journal of Obesity advance online publication, 22 November 2011; doi:10.1038/ijo.2011.212.
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