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- 2019
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Pattaro, Cristian, et al.
(författare)
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.
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| 4. |
- Wang, Li-San, et al.
(författare)
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Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
- 2015
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Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
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Tidskriftsartikel (refereegranskat)abstract
- Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
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- Marcos, S., et al.
(författare)
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Vision science and adaptive optics, the state of the field
- 2017
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Ingår i: Vision Research. - : Elsevier BV. - 0042-6989 .- 1878-5646. ; 132, s. 3-33
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Tidskriftsartikel (refereegranskat)abstract
- Adaptive optics is a relatively new field, yet it is spreading rapidly and allows new questions to be asked about how the visual system is organized. The editors of this feature issue have posed a series of question to scientists involved in using adaptive optics in vision science. The questions are focused on three main areas. In the first we investigate the use of adaptive optics for psychophysical measurements of visual system function and for improving the optics of the eye. In the second, we look at the applications and impact of adaptive optics on retinal imaging and its promise for basic and applied research. In the third, we explore how adaptive optics is being used to improve our understanding of the neurophysiology of the visual system.
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| 6. |
- Holmfeldt, Linda, et al.
(författare)
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The genomic landscape of hypodiploid acute lymphoblastic leukemia
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:3, s. 242-252
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Tidskriftsartikel (refereegranskat)abstract
- The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 hypodiploid ALL cases, including whole-genome and exome sequencing of 40 cases, identified two subtypes that differ in the severity of aneuploidy, transcriptional profiles and submicroscopic genetic alterations. Near-haploid ALL with 24-31 chromosomes harbor alterations targeting receptor tyrosine kinase signaling and Ras signaling (71%) and the lymphoid transcription factor gene IKZF3 (encoding AIOLOS; 13%). In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). Both near-haploid and low-hypodiploid leukemic cells show activation of Ras-signaling and phosphoinositide 3-kinase (PI3K)-signaling pathways and are sensitive to PI3K inhibitors, indicating that these drugs should be explored as a new therapeutic strategy for this aggressive form of leukemia.
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| 7. |
- Bohman, Tony, et al.
(författare)
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Prognosis of patients with whiplash-associated disorders consulting physiotherapy : development of a predictive model for recovery
- 2012
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Ingår i: BMC Musculoskeletal Disorders. - : Springer Science and Business Media LLC. - 1471-2474. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Patients with whiplash-associated disorders (WAD) have a generally favourable prognosis, yet some develop longstanding pain and disability. Predicting who will recover from WAD shortly after a traffic collision is very challenging for health care providers such as physical therapists. Therefore, we aimed to develop a prediction model for the recovery of WAD in a cohort of patients who consulted physical therapists within six weeks after the injury.METHODS: Our cohort included 680 adult patients with WAD who were injured in Saskatchewan, Canada, between 1997 and 1999. All patients had consulted a physical therapist as a result of the injury. Baseline prognostic factors were collected from an injury questionnaire administered by Saskatchewan Government Insurance. The outcome, global self-perceived recovery, was assessed by telephone interviews six weeks, three and six months later. Twenty-five possible baseline prognostic factors were considered in the analyses. A prediction model was built using Cox regression. The predictive ability of the model was estimated with concordance statistics (c-index). Internal validity was checked using bootstrapping.RESULTS: Our final prediction model included: age, number of days to reporting the collision, neck pain intensity, low back pain intensity, pain other than neck and back pain, headache before collision and recovery expectations. The model had an acceptable level of predictive ability with a c-index of 0.68 (95% CI: 0.65, 0.71). Internal validation showed that our model was robust and had a good fit.CONCLUSIONS: We developed a model predicting recovery from WAD, in a cohort of patients who consulted physical therapists. Our model has adequate predictive ability. However, to be fully incorporated in clinical practice the model needs to be validated in other populations and tested in clinical settings.
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| 8. |
- Cancelliere, Carol, et al.
(författare)
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Systematic review of return to work after mild traumatic brain injury : results of the international collaboration on mild traumatic brain injury prognosis
- 2014
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Ingår i: Archives of Physical Medicine and Rehabilitation. - : Elsevier. - 0003-9993 .- 1532-821X. ; 95:3, Suppl, s. S201-S209
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Forskningsöversikt (refereegranskat)abstract
- ObjectiveTo synthesize the best available evidence on return to work (RTW) after mild traumatic brain injury (MTBI).Data SourcesMEDLINE and other databases were searched (2001–2012) with terms including “craniocerebral trauma” and “employment.” Reference lists of eligible articles were also searched.Study SelectionControlled trials and cohort and case-control studies were selected according to predefined criteria. Studies had to assess RTW or employment outcomes in at least 30 MTBI cases.Data ExtractionEligible studies were critically appraised using a modification of the Scottish Intercollegiate Guidelines Network criteria. Two reviewers independently reviewed and extracted data from accepted studies into evidence tables.Data SynthesisEvidence was synthesized qualitatively according to modified Scottish Intercollegiate Guidelines Network criteria and prioritized according to design as exploratory or confirmatory. After 77,914 records were screened, 299 articles were found eligible and reviewed; 101 (34%) of these with a low risk of bias were accepted as scientifically admissible, and 4 of these had RTW or employment outcomes. This evidence is preliminary and suggests that most workers RTW within 3 to 6 months after MTBI; MTBI is not a significant risk factor for long-term work disability; and predictors of delayed RTW include a lower level of education (<11y of formal education), nausea or vomiting on hospital admission, extracranial injuries, severe head/bodily pain early after injury, and limited job independence and decision-making latitude.ConclusionsOur findings are based on preliminary evidence with varied patient characteristics and MTBI definitions, thus limiting firm conclusions. More well-designed studies are required to understand RTW and sustained employment after MTBI in the longer term (≥2y post-MTBI).
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| 9. |
- Hung, Ryan, et al.
(författare)
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Systematic Review of the Clinical Course, Natural History, and Prognosis for Pediatric Mild Traumatic Brain Injury : Results of the International Collaboration on Mild Traumatic Brain Injury Prognosis
- 2014
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Ingår i: Archives of Physical Medicine and Rehabilitation. - : Elsevier. - 0003-9993 .- 1532-821X. ; 95:3, Suppl, s. S174-S191
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Forskningsöversikt (refereegranskat)abstract
- ObjectiveTo synthesize the best available evidence on prognosis after pediatric mild traumatic brain injury (MTBI).Data SourcesWe searched MEDLINE, Embase, PsycINFO, CINAHL, and SPORTDiscus (2001–2012), as well as reference lists of eligible articles, and relevant systematic reviews and meta-analyses.Study SelectionControlled trials and cohort and case-control studies were selected according to predefined criteria. Studies had to have a minimum of 30 MTBI pediatric cases. After 77,914 records were screened for the entire review, 299 studies were eligible and assessed for scientific rigor.Data ExtractionEligible studies were critically appraised using the Scottish Intercollegiate Guidelines Network (SIGN) criteria. Two reviewers independently reviewed each study and extracted data from accepted articles into evidence tables.Data SynthesisEvidence from 25 accepted articles was synthesized qualitatively according to SIGN criteria, and prognostic information was prioritized according to design as exploratory or confirmatory. Most studies show that postconcussion symptoms and cognitive deficits resolve over time. Limited evidence suggests that postconcussion symptoms may persist in those with lower cognitive ability and intracranial pathology on neuroimaging. Preliminary evidence suggests that the risk of epilepsy is increased for up to 10 years after MTBI; however, there is insufficient high-quality evidence at this time to support this link.ConclusionsCommon post-MTBI symptoms and deficits in children are not specific to MTBI and appear to resolve with time; however, limited evidence suggests that children with intracranial pathology on imaging may experience persisting symptoms or deficits. Well-designed, long-term studies are needed to confirm these findings.
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| 10. |
- Peloso, Paul M, et al.
(författare)
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Critical evaluation of the existing guidelines on mild traumatic brain injury.
- 2004
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Ingår i: Journal of Rehabilitation Medicine. - : Medical Journals Sweden AB. - 1650-1977 .- 1651-2081. ; 43, s. 106-
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of guidelines is to reduce practice variability, but they need to be evidence-based. We examine current mild traumatic brain injury guidelines, critique their basis in evidence and examine their variability in recommendations. A systematic search of the literature found 38,806 abstracts, with 41 guidelines. There were 18 sports-related guidelines, 13 related to admission policies, 12 related to imaging and 5 related to neuropsychological assessment. Some guidelines addressed several areas. Only 5 guidelines reported a methodology for the assembly of evidence used to develop the guideline. After appraising the guidelines against a validated index, we found that 3 of the 41 guidelines could be categorized as evidence-based. Two of these focused on paediatric patients and 1 on adult patients. Limited methodological quality in the current guidelines results in conflicting recommendations amongst them.
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