| 1. |
|
|
| 2. |
-
- 2019
-
Journal article (peer-reviewed)
|
|
| 3. |
- Thompson, B.A., et al.
(author)
-
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
-
Journal article (peer-reviewed)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
|
|
| 4. |
|
|
| 5. |
- Elhai, M, et al.
(author)
-
Outcomes of patients with systemic sclerosis treated with rituximab in contemporary practice: a prospective cohort study
- 2019
-
In: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:7, s. 979-987
-
Journal article (peer-reviewed)abstract
- To assess the safety and efficacy of rituximab in systemic sclerosis (SSc) in clinical practice.MethodsWe performed a prospective study including patients with SSc from the European Scleroderma Trials and Research (EUSTAR) network treated with rituximab and matched with untreated patients with SSc. The main outcomes measures were adverse events, skin fibrosis improvement, lung fibrosis worsening and steroids use among propensity score-matched patients treated or not with rituximab.Results254 patients were treated with rituximab, in 58% for lung and in 32% for skin involvement. After a median follow-up of 2 years, about 70% of the patients had no side effect. Comparison of treated patients with 9575 propensity-score matched patients showed that patients treated with rituximab were more likely to have skin fibrosis improvement (22.7 vs 14.03 events per 100 person-years; OR: 2.79 [1.47–5.32]; p=0.002). Treated patients did not have significantly different rates of decrease in forced vital capacity (FVC)>10% (OR: 1.03 [0.55–1.94]; p=0.93) nor in carbon monoxide diffusing capacity (DLCO) decrease. Patients having received rituximab were more prone to stop or decrease steroids (OR: 2.34 [1.56–3.53], p<0.0001). Patients treated concomitantly with mycophenolate mofetil had a trend for better outcomes as compared with patients receiving rituximab alone (delta FVC: 5.22 [0.83–9.62]; p=0.019 as compared with controls vs 3 [0.66–5.35]; p=0.012).ConclusionRituximab use was associated with a good safety profile in this large SSc-cohort. Significant change was observed on skin fibrosis, but not on lung. However, the limitation is the observational design. The potential stabilisation of lung fibrosis by rituximab has to be addressed by a randomised trial.
|
|
| 6. |
|
|
| 7. |
- Bartels-Rausch, T., et al.
(author)
-
A review of air-ice chemical and physical interactions (AICI): Liquids, quasi-liquids, and solids in snow
- 2014
-
In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 14:3, s. 1587-1633
-
Journal article (peer-reviewed)abstract
- Snow in the environment acts as a host to rich chemistry and provides a matrix for physical exchange of contaminants within the ecosystem. The goal of this review is to summarise the current state of knowledge of physical processes and chemical reactivity in surface snow with relevance to polar regions. It focuses on a description of impurities in distinct compartments present in surface snow, such as snow crystals, grain boundaries, crystal surfaces, and liquid parts. It emphasises the microscopic description of the ice surface and its link with the environment. Distinct differences between the disordered air-ice interface, often termed quasi-liquid layer, and a liquid phase are highlighted. The reactivity in these different compartments of surface snow is discussed using many experimental studies, simulations, and selected snow models from the molecular to the macro-scale. Although new experimental techniques have extended our knowledge of the surface properties of ice and their impact on some single reactions and processes, others occurring on, at or within snow grains remain unquantified. The presence of liquid or liquid-like compartments either due to the formation of brine or disorder at surfaces of snow crystals below the freezing point may strongly modify reaction rates. Therefore, future experiments should include a detailed characterisation of the surface properties of the ice matrices. A further point that remains largely unresolved is the distribution of impurities between the different domains of the condensed phase inside the snowpack, i.e. in the bulk solid, in liquid at the surface or trapped in confined pockets within or between grains, or at the surface. While surface-sensitive laboratory techniques may in the future help to resolve this point for equilibrium conditions, additional uncertainty for the environmental snowpack may be caused by the highly dynamic nature of the snowpack due to the fast metamorphism occurring under certain environmental conditions. Due to these gaps in knowledge the first snow chemistry models have attempted to reproduce certain processes like the long-term incorporation of volatile compounds in snow and firn or the release of reactive species from the snowpack. Although so far none of the models offers a coupled approach of physical and chemical processes or a detailed representation of the different compartments, they have successfully been used to reproduce some field experiments. A fully coupled snow chemistry and physics model remains to be developed. © Author(s) 2014.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
|
|
| 18. |
|
|
| 19. |
|
|
| 20. |
- Edfors, R., et al.
(author)
-
Use of proteomics to identify biomarkers associated with chronic kidney disease and long-term outcomes in patients with myocardial infarction
- 2020
-
In: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 288:5, s. 581-592
-
Journal article (peer-reviewed)abstract
- Background Patients with chronic kidney disease (CKD) have poor outcomes following myocardial infarction (MI). We performed an untargeted examination of 175 biomarkers to identify those with the strongest association with CKD and to examine the association of those biomarkers with long-term outcomes. Methods A total of 175 different biomarkers from MI patients enrolled in the Swedish Web-System for Enhancement and Development of Evidence-Based Care in Heart Disease Evaluated According to Recommended Therapies (SWEDEHEART) registry were analysed either by a multiple reaction monitoring mass spectrometry assay or by a multiplex assay (proximity extension assay). Random forests statistical models were used to assess the predictor importance of biomarkers, CKD and outcomes. Results A total of 1098 MI patients with a median estimated glomerular filtration rate of 85 mL min(-1)/1.73 m(2)were followed for a median of 3.2 years. The random forests analyses, without and with adjustment for differences in demography, comorbidities and severity of disease, identified six biomarkers (adrenomedullin, TNF receptor-1, adipocyte fatty acid-binding protein-4, TNF-related apoptosis-inducing ligand receptor 2, growth differentiation factor-15 and TNF receptor-2) to be strongly associated with CKD. All six biomarkers were also amongst the 15 strongest predictors for death, and four of them were amongst the strongest predictors of subsequent MI and heart failure hospitalization. Conclusion In patients with MI, a proteomic approach could identify six biomarkers that best predicted CKD. These biomarkers were also amongst the most important predictors of long-term outcomes. Thus, these biomarkers indicate underlying mechanisms that may contribute to the poor prognosis seen in patients with MI and CKD.
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
|
|
| 24. |
|
|
| 25. |
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
|
|
| 31. |
|
|
| 32. |
|
|
| 33. |
|
|
| 34. |
|
|
| 35. |
- Rietz, H, et al.
(author)
-
LONG SLEEP DURATION AND AMBULATORY BLOOD PRESSURE
- 2022
-
In: JOURNAL OF HYPERTENSION. - : Ovid Technologies (Wolters Kluwer Health). - 0263-6352 .- 1473-5598. ; 40:SUPPL 1, s. E128-E128
-
Conference paper (other academic/artistic)
|
|
| 36. |
|
|
| 37. |
|
|
| 38. |
|
|
| 39. |
|
|
| 40. |
|
|
| 41. |
|
|
| 42. |
|
|
| 43. |
|
|
| 44. |
- Berg, J, et al.
(author)
-
Health-related quality of life and long-term morbidity and mortality in patients hospitalised with systolic heart failure
- 2014
-
In: JRSM cardiovascular disease. - : SAGE Publications. - 2048-0040. ; 3, s. 2048004014548735-
-
Journal article (peer-reviewed)abstract
- Health-related quality of life has been shown to impact prognosis in chronic heart failure, however with limited long-term follow-up. We analysed data spanning 8–12 years to assess the impact of health-related quality of life using the Nottingham Health Profile on first hospitalisation and mortality, for cardiovascular and all causes. Methods We included 208 patients aged ≥60 years with New York Heart Association class II–IV and left ventricular systolic dysfunction hospitalised in Stockholm during 1996–99. Data on hospital admissions, discharge diagnoses and date and cause of death were collected from administrative databases and medical records until 2007. Cox proportional hazard models were employed to analyse the time to event for mortality and hospitalisations. Results Mean age was 76 years, 58% were male and mean ejection fraction was 34%. Median survival was 4.6 years (range 6 days–11.9 years); 148 patients died. All-cause and cardiovascular mortality were determined by physical mobility (by Nottingham Health Profile), age, gender, diuretic dose and haemoglobin level. Glomerular filtration rate was significant for all-cause mortality, while atrioventricular plane displacement was predictive of cardiovascular mortality. Median time to first all-cause and cardiovascular hospitalisation was 5.7 and 11.2 months, respectively. Time to first all-cause hospitalisation was determined by physical mobility, emotional reactions, age, gender and haemoglobin level, while only physical mobility and diuretic dose predicted time to first cardiovascular hospitalisation. Conclusions In conclusion, in patients with systolic chronic heart failure, physical mobility as part of health-related quality of life is an independent prognostic marker for cardiovascular and all-cause readmissions and mortality over 12 years.
|
|
| 45. |
|
|
| 46. |
|
|
| 47. |
|
|
| 48. |
- Bokrantz, Tove, et al.
(author)
-
7b.10: Thiazide Diuretics and Fracture-Risk among Hypertensive Patients. Results from the Swedish Primary Care Cardiovascular Database (Spccd)
- 2015
-
In: Journal of hypertension. - : Ovid Technologies (Wolters Kluwer Health). - 0263-6352 .- 1473-5598. ; 33 Suppl 1
-
Conference paper (other academic/artistic)abstract
- OBJECTIVE: To investigate whether treatment with thiazide diuretics reduces the risk of osteoporotic fractures in hypertensive patients in primary health care. Further we aimed to examine the impact of duration of thiazide use, the consequences of discontinuation of use and effect-modifications by gender. DESIGN AND METHOD: This retrospective cohort study includes 60 893 individuals, diagnosed with hypertension during 2001-2008 included in the Swedish Primary Care Cardiovascular Database. All patients were followed from a fixed baseline (1 Jan 2006, or the date the patient received their first diagnosis of hypertension if that date came later) until they had an incident osteoporotic fracture, died, or reached the end of the study at 31 Dec 2012, whichever came first. Patients exposed to thiazide diuretics (dispensed drugs recorded through the Prescribed Drug Register) were compared with hypertensive patients never exposed to thiazides. RESULTS: During follow up 2421 osteoporotic fractures occurred. Current use of thiazide diuretics was found to be associated with significantly reduced risk of osteoporotic fractures (adjusted hazard ratios 0.88; 95% CI 0.81-0.97) independent of blood pressure level. In addition, risk appeared to decline with longer duration of use. In contrast, discontinuation of dispensed prescriptions of thiazides was associated with increased risk of osteoporotic fractures (HR 1.17; 95% CI 1.04-1.31).However, a trend towards attenuation of the increased risk with longer duration past treatment period was seen. When analyzing men and women separately similar results were seen, for both genders, although only statistically significant for men. CONCLUSIONS: In this large retrospective cohort study of hypertensive men and women from Sweden, we could identity a protective effect on osteoporotic fractures among current users of thiazide diuretic drugs independent of blood pressure level. However, the risk of fracture was found to be increased in patients shortly after discontinuation of treatment compared to patients never prescribed thiazide diuretic drugs. The reason for an augmented outcome on osteoporotic fractures among patients with former thiazide diuretic therapy needs to be further elucidated.
|
|
| 49. |
|
|
| 50. |
- Brandberg, H, et al.
(author)
-
A prospective cohort study of self-reported computerised medical history taking for acute chest pain: protocol of the CLEOS-Chest Pain Danderyd Study (CLEOS-CPDS)
- 2020
-
In: BMJ open. - : BMJ. - 2044-6055. ; 10:1, s. e031871-
-
Journal article (peer-reviewed)abstract
- Management of acute chest pain focuses on diagnosis or safe rule-out of an acute coronary syndrome (ACS). We aim to determine the additional value of self-reported computerised history taking (CHT).Methods and analysisProspective cohort study design with self-reported, medical histories collected by a CHT programme (Clinical Expert Operating System, CLEOS) using a tablet. Women and men presenting with acute chest pain to the emergency department at Danderyd University Hospital (Stockholm, Sweden) are eligible. CHT will be compared with standard history taking for completeness of data required to calculate ACS risk scores such as History, ECG, Age, Risk factors and Troponin (HEART), Global Registry of Acute Coronary Events (GRACE), and Thrombolysis in Myocardial Infarction (TIMI). Clinical outcomes will be extracted from hospital electronic health records and national registries. The CLEOS-Chest Pain Danderyd Study project includes (1) a feasibility study of CHT, (2) a validation study of CHT as compared with standard history taking, (3) a paired diagnostic accuracy study using data from CHT and established risk scores, (4) a clinical utility study to evaluate the impact of CHT on the management of chest pain and the use of resources, and (5) data mining, aiming to generate an improved risk score for ACS. Primary outcomes will be analysed after 1000 patients, but to allow for subgroup analysis, the study intends to recruit 2000 or more patients. This ongoing project may lead to new and more effective ways for collecting thorough, accurate medical histories with important implications for clinical practice.Ethics and disseminationThis study has been reviewed and approved by the Stockholm Regional Ethical Committee (now Swedish Ethical Review Authority). Results will be published, regardless of the outcome, in peer-reviewed international scientific journals.Trial registration numberThis study is registered athttps://www.clinicaltrials.gov(unique identifier:NCT03439449).
|
|
