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- Borssén, Magnus, et al.
(författare)
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DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia
- 2018
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Ingår i: Clinical Epigenetics. - : BIOMED CENTRAL LTD. - 1868-7083 .- 1868-7075. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Background: Few biological markers are associated with survival after relapse of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In pediatric T-cell ALL, we have identified promoter-associated methylation alterations that correlate with prognosis. Here, the prognostic relevance of CpG island methylation phenotype (CIMP) classification was investigated in pediatric BCP-ALL patients.Methods: Six hundred and one BCP-ALL samples from Nordic pediatric patients (age 1-18) were CIMP classified at initial diagnosis and analyzed in relation to clinical data.Results: Among the 137 patients that later relapsed, patients with a CIMP-profile (n = 42) at initial diagnosis had an inferior overall survival (pOS(5years) 33%) compared to CIMP+ patients (n = 95, pOS(5years) 65%) (p = 0.001), which remained significant in a Cox proportional hazards model including previously defined risk factors.Conclusion: CIMP classification is a strong candidate for improved risk stratification of relapsed BCP-ALL.
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| 2. |
- Fava, Cristiano, et al.
(författare)
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Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes
- 2007
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Ingår i: DNA Sequence. - : Informa UK Limited. - 1029-2365 .- 1042-5179. ; 18:5, s. 395-399
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Gitelman's syndrome (GS) is an inherited autosomal recessive disorder due to loss of function mutations in the SLC12A3 gene encoding the Na-Cl co-transporter (NCCT), the target of thiazide diuretics. The defective function of the NCCT, which normally is expressed in the apical membrane of the distal convolute tubule in the kidney, leads to mild hypotension, hypokalemia, hyperreninemic hyperaldosteronism, mild metabolic alkalosis, hypomagnesemia and hypocalciuria. Up to now, more than 100 mutations of the SLC12A3 gene have been described in GS patients. METHODS: We have collected 30 patients from Sweden with a clinical diagnosis of GS and undertaken a mutation screening by SSCP and successive sequencing of the 26 exons and intronic boundaries. Both mutations were identified in most (n = 28, 93%) and at least one mutation was identified in all patients. RESULTS: We found 22 different mutations evenly distributed throughout the gene, 11 of which have not been described previously. The new variants include 8 missense mutations (Glu68Lys, His69Asn, Argl45His, Vall53Met, Gly230Asp, Gly342Ala, Val677Leu and Gly867Ser), 1 insertion (c.834_835insG on exon 6) and 2 splice-site mutations (c.2667 + lT>G substitution in splicing donor site after exon 22, c.1569-1G>A substitution in the splicing acceptor site before exon 13). CONCLUSION: In Swedish patients with the clinical features of GS, disease-causing mutations in the SLC12A3 gene were identified in most patients. The spectrum of GS mutations is wide making full mutation screening of the SLC12A3 gene necessary to confirm the diagnosis.
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| 4. |
- Hasselqvist-Ax, Ingela, et al.
(författare)
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Dispatch of Firefighters and Police Officers in Out-of-Hospital Cardiac Arrest : A Nationwide Prospective Cohort Trial Using Propensity Score Analysis.
- 2017
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Ingår i: Journal of the American Heart Association. - 2047-9980. ; 6:10
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Dispatch of basic life support-trained first responders equipped with automated external defibrillators in addition to advanced life support-trained emergency medical services personnel in out-of-hospital cardiac arrest (OHCA) has, in some minor cohort studies, been associated with improved survival. The aim of this study was to evaluate the association between basic life support plus advanced life support response and survival in OHCA at a national level.METHODS AND RESULTS: This prospective cohort study was conducted from January 1, 2012, to December 31, 2014. People who experienced OHCA in 9 Swedish counties covered by basic life support plus advanced life support response were compared with a propensity-matched contemporary control group of people who experienced OHCA in 12 counties where only emergency medical services was dispatched, providing advanced life support. Primary outcome was survival to 30 days. The analytic sample consisted of 2786 pairs (n=5572) derived from the total cohort of 7308 complete cases. The median time from emergency call to arrival of emergency medical services or first responder was 9 minutes in the intervention group versus 10 minutes in the controls (P<0.001). The proportion of patients admitted alive to the hospital after resuscitation was 31.4% (875/2786) in the intervention group versus 24.9% (694/2786) in the controls (conditional odds ratio, 1.40; 95% confidence interval, 1.24-1.57). Thirty-day survival was 9.5% (266/2786) in the intervention group versus 7.7% (214/2786) in the controls (conditional odds ratio, 1.27; 95% confidence interval, 1.05-1.54).CONCLUSIONS: In this nationwide interventional trial, using propensity score matching, dispatch of first responders in addition to emergency medical services in OHCA was associated with a moderate, but significant, increase in 30-day survival.CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT02184468.
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| 6. |
- Kusano, Miyako, et al.
(författare)
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Metabolite signature during short-day induced growth cessation in populus
- 2011
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Ingår i: Frontiers in Plant Science. - : Frontiers Media S.A.. - 1664-462X. ; 2
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Tidskriftsartikel (refereegranskat)abstract
- The photoperiod is an important environmental signal for plants, and influences a wide range of physiological processes. For woody species in northern latitudes, cessation of growth is induced by short photoperiods. In many plant species, short photoperiods stop elongational growth after a few weeks. It is known that plant daylength detection is mediated by Phytochrome A (PHYA) in the woody hybrid aspen species. However, the mechanism of dormancy involving primary metabolism remains unclear. We studied changes in metabolite profiles in hybrid aspen leaves (young, middle, and mature leaves) during short-day-induced growth cessation, using a combination of gas chromatography–time-of-flight mass spectrometry, and multivariate projection methods. Our results indicate that the metabolite profiles in mature source leaves rapidly change when the photoperiod changes. In contrast, the differences in young sink leaves grown under long and short-day conditions are less distinct. We found short daylength induced growth cessation in aspen was associated with rapid changes in the distribution and levels of diverse primary metabolites. In addition, we conducted metabolite profiling of leaves of PHYA overexpressor (PHYAOX) and those of the control to find the discriminative metabolites between PHYAOX and the control under the short-day conditions. The metabolite changes observed in PHYAOX leaves, together with those in the source leaves, identified possible candidates for the metabolite signature (e.g., 2-oxo-glutarate, spermidine, putrescine, 4-amino-butyrate, and tryptophan) during short-day-induced growth cessation in aspen leaves.
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| 7. |
- Mousavi, Malahat, et al.
(författare)
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Serum metabolomic biomarkers of dementia
- 2014
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Ingår i: Dementia and Geriatric Cognitive Disorders Extra. - : S. Karger AG. - 1664-5464. ; 4:2, s. 252-62
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Tidskriftsartikel (refereegranskat)abstract
- Aims: This study compared serum metabolites of demented patients (Alzheimer's disease and vascular dementia) and controls, and explored serum metabolite profiles of nondemented individuals 5 years preceding the diagnosis. Methods: Cognitively healthy participants were followed up for 5-20 years. Cognitive assessment, serum sampling, and diagnosis were completed every 5 years. Multivariate analyses were conducted on the metabolite profiles generated by gas chromatography/time-of-flight mass spectrometry. Results: A significant group separation was found between demented patients and controls, and between incident cases and controls. Metabolites that contributed in both analyses were 3,4-dihydroxybutanoic acid, docosapentaenoic acid, and uric acid. Conclusions: Serum metabolite profiles are altered in demented patients, and detectable up to 5 years preceding the diagnosis. Blood sampling can make an important contribution to the early prediction of conversion to dementia.
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