11. |
- van Rheenen, W, et al.
(author)
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
- 2021
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 53:12, s. 1636-
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Journal article (peer-reviewed)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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12. |
- Bahadoer, Renu R., et al.
(author)
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One-year excess mortality and treatment in surgically treated patients with colorectal cancer : A EURECCA European comparison
- 2021
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In: European Journal of Surgical Oncology. - : Elsevier. - 0748-7983 .- 1532-2157. ; 47:7, s. 1651-1660
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Journal article (peer-reviewed)abstract
- Background: Mortality in the first postoperative year represents an accurate reflection of the perioperative risk after colorectal cancer surgery. This research compares one-year mortality after surgery divided into three age-categories (18-64, 65-74, ≥75 years), focusing on time trends and comparing treatment strategies.Material: Population-based data of all patients diagnosed and treated surgically for stage I-III primary colorectal cancer from 2007 to 2016, were collected from Belgium, the Netherlands, Norway, and Sweden. Stratified for age-category and stage, treatment was evaluated, and 30-day, one-year and one-year excess mortality were calculated for colon and rectal cancer separately. Results were evaluated over two-year time periods.Results: Data of 206,024 patients were analysed. Postoperative 30-day and one-year mortality reduced significantly over time in all countries and age-categories. Within the oldest age category, in 2015–2016, one-year excess mortality varied from 9% in Belgium to 4% in Sweden for colon cancer and, from 9% in Belgium to 3% in the other countries for rectal cancer. With increasing age, patients were less likely to receive additional therapy besides surgery. In Belgium, colon cancer patients were more often treated with adjuvant chemotherapy (p < 0.001). For neoadjuvant treatment of rectal cancer, patients in Belgium and Norway were mostly treated with chemoradiotherapy. In the Netherlands and Sweden, radiotherapy alone was preferred (p < 0.001).Conclusions: Despite improvement over time in all countries and age-categories, substantial variation exists in one-year postoperative mortality. Differences in one-year excess postoperative mortality could be due to differences in treatment strategies, highlighting the consequences of under- and over-treatment on cancer survival.
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13. |
- Bahadoer, Renu R., et al.
(author)
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The survival gap between young and older patients after surgical resection for colorectal cancer remains largely based on early mortality : A EURECCA comparison of four European countries
- 2022
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In: Journal of Geriatric Oncology. - : Elsevier. - 1879-4068 .- 1879-4076. ; 13:6, s. 803-812
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Journal article (peer-reviewed)abstract
- Background: A decade ago, it was demonstrated that the difference in survival between older patients and younger patients with colorectal cancer (CRC) was mainly due to mortality in the first postoperative year. Over the last few years, improvements - especially in perioperative care - have increased survival. The current research investigates whether a survival gap between younger and older patients with CRC still exists on a national level in four European countries.Methods: Population-based data from Belgium, the Netherlands, Norway, and Sweden were collected from patients that underwent surgical resection for primary stage I-III CRC between 2007 and 2016. Relative survival and conditional relative survival (CS), with the condition of surviving the first postoperative year, were calculated for colon and rectal cancer separately, stratified for country and age category (<65, 65–75, ≥75 years). In addition, relative excess risk of death (RER) was estimated, and one-year excess mortality was calculated.Results: Data of 206,024 patients were analyzed. In general, compared to patients <65 years, patients ≥75 years had a worse survival during the first year after surgery, which was most pronounced in Belgium (RER colon cancer 2.5 [95% confidence interval (CI) 2.3–2.8] and RER rectal cancer 2.6 [95% CI 2.3–2.9]). After surviving the first year, CS was mostly not statistically different between patients <65 years and patients ≥75 years with stage I-II, with the exception of stage II colon cancer in Belgium. However, CS remained worse in the largest part of the patients ≥75 years with stage III colon or rectal cancer (except for rectal cancer in Norway).Conclusions: Although differences exist between the countries, the survival gap between young and older patients is based mainly on early mortality and remains only for stage III disease after surviving the first year.
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14. |
- DeFoor, Mikalyn T., et al.
(author)
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No Difference in Recurrent Instability Between Knotted and Knotless Repair Techniques in Arthroscopic Treatment of Isolated Posterior Labral Tears: A Systematic Review
- 2024
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In: Arthroscopy, Sports Medicine, and Rehabilitation. - 2666-061X. ; 6:1
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Research review (peer-reviewed)abstract
- Purpose: To compare clinical failure, recurrent instability, patient-reported outcome measures (PROMs), and return to sport (RTS) between knotted and knotless fixation methods in arthroscopic posterior labral repair for isolated posterior shoulder instability (PSI). Methods: Multiple databases were queried according to Preferred Reported Items for Systematic Reviews and Meta-Analyses guidelines for clinical studies with Level I to IV evidence, including knotted and knotless suture anchors for arthroscopic posterior labral repair. Combined anterior and posterior instability, multidirectional instability, SLAP injuries, unspecified repair techniques, majority open procedures, and revision surgery were excluded. Results: Screening yielded 17 full-text articles reporting on 852 shoulders undergoing posterior labral repair. Recurrent instability ranged from 0% to 21%, and the rate of revision surgery ranged from 0% to 11% in knotted only, 0% in knotless only, and 2.0% to 8.1% in knotted and knotless studies. Six studies with both pre- and postoperative visual analog scale scores and 7 studies with both pre- and postoperative American Shoulder and Elbow Score scores all showed improvement in scores after intervention regardless of repair technique. Thirteen studies reported RTS or duty rates with a minimum of 79%. Conclusions: Overall recurrent instability after posterior labral repair for isolated PSI was low with improvement in PROMs and favorable RTS rates regardless of fixation method. There was no clear difference in recurrent instability or revision surgery between knotted and knotless fixation methods for isolated posterior labral repair. However, the current literature is predominantly limited by Level III and IV evidence. The quality of literature and lack of standardization on the definition of clinical failure and recurrent instability among surgeons preclude any definitive conclusion regarding one clinically superior fixation method. Level of Evidence: Level IV, systematic review of Level III and IV studies.
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17. |
- Liang, Yajun, et al.
(author)
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Metabolic syndrome in patients with first-ever ischemic stroke : prevalence and association with coronary heart disease
- 2022
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12:1
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Journal article (peer-reviewed)abstract
- The metabolic syndrome (MetS) has been well linked with coronary heart disease (CHD) in the general population, but studies have rarely explored their association among patients with stroke. We examine prevalence of MetS and its association with CHD in patients with first-ever ischemic stroke. This hospital-based study included 1851 patients with first-ever ischemic stroke (mean age 61.2 years, 36.5% women) who were hospitalized into two university hospitals in Shandong, China (January 2016–February 2017). Data were collected through interviews, physical examinations, and laboratory tests. MetS was defined following the National Cholesterol Education Program (NCEP) criteria, the International Diabetes Federation (IDF) criteria, and the Chinese Diabetes Society (CDS) criteria. CHD was defined following clinical criteria. Data were analyzed using binary logistic regression models. The overall prevalence of MetS was 33.4% by NECP criteria, 47.2% by IDF criteria, and 32.5% by CDS criteria, with the prevalence being decreased with age and higher in women than in men (p < 0.05). High blood pressure, high triglycerides, and low HDL-C were significantly associated with CHD (multi-adjusted odds ratio [OR] range 1.27–1.38, p < 0.05). The multi-adjusted OR of CHD associated with MetS defined by the NECP criteria, IDF criteria, and CDS criteria (vs. no MetS) was 1.27 (95% confidence interval 1.03–1.57), 1.44 (1.18–1.76), and 1.27 (1.03–1.57), respectively. In addition, having 1–2 abnormal components (vs. none) of MetS was associated with CHD (multi-adjusted OR range 1.66–1.72, p < 0.05). MetS affects over one-third of patients with first-ever ischemic stroke. MetS is associated with an increased likelihood of CHD in stroke patients.
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18. |
- Sarmiento, Luis, et al.
(author)
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Comparing net zero pathways across the Atlantic A model inter-comparison exercise between the Energy Modeling Forum 37 and the European Climate and Energy Modeling Forum
- 2024
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In: Energy and Climate Change. - : Elsevier BV. - 2666-2787. ; 5
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Journal article (peer-reviewed)abstract
- Europe and North America account for 32 % of current carbon emissions. Due to distinct legacy systems, energy infrastructure, socioeconomic development, and energy resource endowment, both regions have different policy and technological pathways to reach net zero by the mid-century. Against this background, our paper examines the results from the net zero emission scenarios for Europe and North America that emerged from the collaboration of the European and American Energy Modeling Forums. In our analysis, we perform an inter-comparison of various integrated assessments and bottom-up energy system models. A clear qualitative consensus emerges on five main points. First, Europe and the United States reach net zero targets with electrification, demand-side reductions, and carbon capture and sequestration technologies. Second, the use of carbon capture and sequestration is more predominant in the United States due to a steeper decarbonization schedule. Third, the buildings sector is the easiest to electrify in both regions. Fourth, the industrial sector is the hardest to electrify in the United States and transportation in Europe. Fifth, in both regions, the transition in the energy mix is driven by the substitution of coal and natural gas with solar and wind, but to a different extent.
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19. |
- She, Rui, et al.
(author)
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Comorbidity in patients with first-ever ischemic stroke : Disease patterns and their associations with cognitive and physical function
- 2022
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In: Frontiers in Aging Neuroscience. - : Frontiers Media SA. - 1663-4365. ; 14
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Journal article (peer-reviewed)abstract
- The present study examined the prevalence and pattern of comorbidity among Chinese patients with first-ever acute ischemic stroke, and assessed the associations of specific comorbidity patterns with physical and cognitive functioning after stroke occurrence. A hospital-based cross-sectional study was conducted among 2,151 patients with first-ever ischemic stroke (age ≥40 years; 64.2% men) who were admitted to two university hospitals in Shandong, China between 2016 and 2017. Data on demographics, lifestyles, chronic health conditions, and use of medications were collected through in-person interviews, clinical examinations, and laboratory tests. Physical functioning was assessed by the Barthel index (BI) and the modified Rankin Scale (mRS) while cognitive functioning was assessed by the Montreal Cognitive Assessment test. The results showed that comorbidity was present in 90.9% of the stroke patients (women vs. men: 95.2 vs. 88.7%, P < 0.001). Exploratory factor analysis identified three patterns of comorbidity, i.e., patterns of degenerative-cardiopulmonary, heart-gastrointestinal-psychiatric, and metabolic-kidney diseases. The number of comorbidities was significantly associated with a higher likelihood of moderate-to-severe physical dependence [odds ratio (95% CI) = 1.15 (1.06-1.25) for BI and 1.12 (1.04-1.21) for mRS, all P < 0.01] and cognitive impairment [odds ratio (95% CI) = 1.11 (1.02-1.20), P = 0.017], after adjusting for multiple covariates. Almost all the three comorbidity patterns were associated with increased likelihoods of physical dependence (range for odds ratios: 1.26-1.33) and cognitive impairment (range for odds ratios: 1.25-1.34). No significant association was found between degenerative-cardiopulmonary pattern and mRS. These findings suggest that comorbidity is associated with poor physical and cognitive functioning during the acute phase of ischemic stroke. Routine assessments of comorbidity and cognitive and physical function among patients with acute ischemic stroke should be considered in stroke research and clinical practice.
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20. |
- She, Rui, et al.
(author)
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Health-related quality of life after first-ever acute ischemic stroke : associations with cardiovascular health metrics
- 2021
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In: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 30, s. 2907-2917
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Journal article (peer-reviewed)abstract
- Purpose To investigate the associations between cardiovascular health (CVH) metrics and health-related quality of life (HRQL) among patients with ischemic stroke in China, and further explore the role of physical and cognitive function in their associations.Methods This hospital-based study included 1714 patients with first-ever acute ischemic stroke (age >= 40 years; 36.7% women) who were admitted to two university hospitals in Shandong, China. We collected information on seven CVH metrics (smoking, body mass index, diet, physical activity, blood pressure, total cholesterol, and fasting blood glucose) through interviews, clinical examinations, and laboratory tests. EQ-5D-3L was used to assess HRQL. Cognitive and physical functioning was assessed by the Montreal Cognitive Assessment test and Barthel index, respectively. Data were analyzed using the general linear regression models.Results The average score (SD) was 0.746 (0.23) for HRQL index and 72.7 (15.8) for self-rated health. Optimal levels of four individual CVH metric components (diet, physical activity, blood pressure, and blood glucose) and a higher composite CVH score were significantly associated with a greater HRQL index and better self-rated health (p < 0.05 for all). Physical dependence and cognitive impairment were associated with a lower HRQL index and poorer self-rated health status (p < 0.001). Furthermore, the relationships between CVH metrics and HRQL index varied by functional status, such that their associations were statistically significant only among people who had physical dependence or cognitive impairment.Conclusion Achieving a better cardiovascular health profile is associated with better quality of life among ischemic stroke survivors, primarily in those with physical or cognitive impairment.
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