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- Bernhardt, A. M., et al.
(författare)
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A unified classification approach rating clinical utility of protein biomarkers across neurologic diseases
- 2023
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Ingår i: Ebiomedicine. - : Elsevier BV. - 2352-3964. ; 89
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Tidskriftsartikel (refereegranskat)abstract
- A major evolution from purely clinical diagnoses to biomarker supported clinical diagnosing has been occurring over the past years in neurology. High-throughput methods, such as next-generation sequencing and mass spectrometry-based proteomics along with improved neuroimaging methods, are accelerating this development. This calls for a consensus framework that is broadly applicable and provides a spot-on overview of the clinical validity of novel biomarkers. We propose a harmonized terminology and a uniform concept that stratifies biomarkers according to clinical context of use and evidence levels, adapted from existing frameworks in oncology with a strong focus on (epi) genetic markers and treatment context. We demonstrate that this framework allows for a consistent assessment of clinical validity across disease entities and that sufficient evidence for many clinical applications of protein biomarkers is lacking. Our framework may help to identify promising biomarker candidates and classify their applications by clinical context, aiming for routine clinical use of (protein) biomarkers in neurology. Copyright (c) 2023 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 2. |
- Gomes, CPC, et al.
(författare)
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Catalyzing Transcriptomics Research in Cardiovascular Disease: The CardioRNA COST Action CA17129
- 2019
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Ingår i: Non-coding RNA. - : MDPI AG. - 2311-553X. ; 5:2
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Tidskriftsartikel (refereegranskat)abstract
- Cardiovascular disease (CVD) remains the leading cause of death worldwide and, despite continuous advances, better diagnostic and prognostic tools, as well as therapy, are needed. The human transcriptome, which is the set of all RNA produced in a cell, is much more complex than previously thought and the lack of dialogue between researchers and industrials and consensus on guidelines to generate data make it harder to compare and reproduce results. This European Cooperation in Science and Technology (COST) Action aims to accelerate the understanding of transcriptomics in CVD and further the translation of experimental data into usable applications to improve personalized medicine in this field by creating an interdisciplinary network. It aims to provide opportunities for collaboration between stakeholders from complementary backgrounds, allowing the functions of different RNAs and their interactions to be more rapidly deciphered in the cardiovascular context for translation into the clinic, thus fostering personalized medicine and meeting a current public health challenge. Thus, this Action will advance studies on cardiovascular transcriptomics, generate innovative projects, and consolidate the leadership of European research groups in the field.COST (European Cooperation in Science and Technology) is a funding organization for research and innovation networks (www.cost.eu).
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| 5. |
- Arnetz, Bengt B., et al.
(författare)
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The Effects of 884 MHz GSM Wireless Communication Signals on Self-reported Symptoms and Sleep : An Experimental Provocation Study
- 2007
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Ingår i: PIERS online. - 1931-7360. ; 3:7, s. 1148-1150
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Tidskriftsartikel (refereegranskat)abstract
- In the current study we assessed possible effects of prolonged (3 hours) exposure to 884 MHz GSM wireless communication signals on self-reported symptoms, cognitive function, and electroencephalographically (EEG) recorded sleep. The study group consisted of 36 women and 35 men. Twenty-two women and sixteen men reported symptoms they specifically related to mobile phone use (SG). The rest of the participants reported no mobile phone-related symptoms (NG). Potential participants volunteering for the study were evaluated by physicians, including some biochemical assessments, to rule out medical conditions that could interfere with study variables of interest. Once selected, participants spent three different sessions in the laboratory. The habituation session was followed by two subsequent sessions. In these subsequent sessions, subjects were either exposed to sham exposure (sham) or 884 MHz GSM wireless communication signals for 3 hours (an average of 1.4 W/kg including periods of DTX and Non-DTX. Exposure directed to the left hemisphere). Data was collected before, during and following the exposure/sham sessions. Data collected included self-reported symptoms, including headache, cognitive function, mood, and electroencephalographic recordings. During actual exposure, as compared to sham exposure, sleep initiated one hour after exposure was affected. There was a prolonged latency to reach the first cycle of deep sleep (stage 3). The amount of stage 4 sleep was also decreased in exposed subjects. NG subjects reported more headaches during exposures vs. sham exposure. Neither group (SG and NG) was able to detect the true exposure status more frequently than by chance alone. The study indicates that during laboratory exposure to 884 MHz wireless signals, components of sleep, believed to be important for recovery from daily wear and tear, are adversely affected. Moreover, participants that otherwise have no self-reported symptoms related to mobile phone use, appear to have more headaches during actual radiofrequency exposure as compared to sham exposure. However, subjects were not able to detect the true exposure status more often than would have been expected by statistical chance alone. Additional self-reported findings, biochemical, performance and electrophysiological data are currently being analyzed. Possible health implications from the findings will also be further explored.
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| 7. |
- Burda, P, et al.
(författare)
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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
- 2015
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 38:5, s. 863-872
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Tidskriftsartikel (refereegranskat)abstract
- In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and folinic acid. The third patient developed megaloblastic anaemia, infection, autoimmune disease and moderate liver fibrosis but not hyperhomocysteinemia, and was successfully treated with a regime that included and was eventually reduced to folic acid. The other two, elder siblings of the third patient, died at 9weeks of age with megaloblastic anaemia, infection and severe acidosis and had MTFHD1 deficiency diagnosed retrospectively. We identified a missense mutation (c.806C>T, p.Thr296Ile) and a splice site mutation (c.1674G>A) leading to exon skipping in the second patient, while the other three harboured a missense mutation (c.146C>T, p.Ser49Phe) and a premature stop mutation (c.673G>T, p.Glu225*), all of which were novel. Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate, which did not increase in cobalamin supplemented culture medium but was responsive to folic and folinic acid. These additional cases increase the clinical spectrum of this intriguing defect, provide in vitro evidence of disturbed methionine synthesis and substantiate the effectiveness of folic or folinic acid treatment.
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| 8. |
- Grooten, Wilhelmus Johannes Andreas, et al.
(författare)
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Summarizing the effects of different exercise types in chronic low back pain : a systematic review of systematic reviews
- 2022
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 23:1
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: In chronic LBP (CLBP), guideline-endorsed treatment is to stay active, return to normal activity, and to exercise. Several reviews on various exercise types used in CLBP have been published. We aimed to identify systematic reviews of common exercise types used in CLBP, to appraise their quality, and to summarize and compare their effect on pain and disability.METHODS: We searched the databases OVID MEDLINE, EMBASE, COCHRANE LIBRARY, and WEB OF SCIENCE (Core collection) for systematic reviews and meta-analyses on adults between 18 and 70 years of age suffering from chronic or recurrent LBP for a period of at least 12 weeks, which investigated the effects of exercises on pain and disability. All searches were conducted without language restriction. The search was performed up until 2022-01-26. The included reviews were grouped into nine exercise types: aerobic training, aquatic exercises, motor control exercises (MCE), resistance training, Pilates, sling exercises, traditional Chinese exercises (TCE), walking, and yoga. The study quality was assessed with AMSTAR-2. For each exercise type, a narrative analysis was performed, and the level of evidence for the effects of exercise was assessed through GRADE.RESULTS: Our database search resulted in 3,475 systematic reviews. Out of the 253 full texts that were screened, we included 45 systematic reviews and meta-analyses. The quality of the included reviews ranged from high to critically low. Due to large heterogeneity, no meta-analyses were performed. We found low-to-moderate evidence of mainly short-term and small beneficial effects on pain and disability for MCE, Pilates, resistance training, TCE, and yoga compared to no or minimal intervention.CONCLUSIONS: Our findings show that the effect of various exercise types used in CLBP on pain and disability varies with no major difference between exercise types. Many of the included systematic reviews were of low-to-moderate quality and based on randomized controlled trials with high risk of bias. The conflicting results seen, undermine the certainty of the results leading to very-low-to-moderate quality of evidence for our results. Future systematic reviews should be of higher quality to minimize waste of resources.TRIAL REGISTRATION: PROSPERO: Reg no 190409 Registration date 01AUG 2020.
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