| 1. |
- Alsterholm, Mikael, 1977, et al.
(författare)
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Establishment and utility of SwedAD : a nationwide Swedish registry for patients with atopic dermatitis receiving systemic pharmacotherapy
- 2023
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 103
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Tidskriftsartikel (refereegranskat)abstract
- SwedAD, a Swedish nationwide registry for patients with atopic dermatitis receiving systemic pharmacotherapy, was launched on 1 September 2019. We describe here the establishment of a user-friendly registry to the benefit of patients with atopic dermatitis. By 5 November 2022, 38 clinics had recorded 931 treatment episodes in 850 patients with an approximate national coverage rate of 40%. Characteristics at enrolment included median Eczema Area and Severity Index (EASI) 10.2 (interquartile range 4.0, 19.4), Patient-Oriented Eczema Measure (POEM) 18.0 (10.0, 24.0), Dermatology Life Quality Index (DLQI) 11.0 (5.0, 19.0) and Peak Itch Numerical Rating Scale-11 (NRS-11) 6.0 (3.0, 8.0). At 3 months, median EASI was 3.2 (1.0, 7.3) and POEM, DLQI, and NRS-11 were improved. Regional coverage varied, reflecting the distribution of dermatologists, the ratio of public to private healthcare, and difficulties in recruiting certain clinics. This study highlights the importance of a nationwide registry when managing systemic pharmacotherapy of atopic dermatitis.
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| 2. |
- Gu, Xiaolian, et al.
(författare)
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Epigenetic regulation of OAS2 shows disease-specific DNA methylation profiles at individual CpG sites
- 2016
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Epigenetic modifications are essential regulators of biological processes. Decreased DNA methylation of OAS2 (2'-5'-Oligoadenylate Synthetase 2), encoding an antiviral protein, has been seen in psoriasis. To provide further insight into the epigenetic regulation of OAS2, we performed pyrosequencing to detect OAS2 DNA methylation status at 11 promoter and first exon located CpG sites in psoriasis (n = 12) and two common subtypes of squamous cell carcinoma (SCC) of the head and neck: tongue (n = 12) and tonsillar (n = 11). Compared to corresponding controls, a general hypomethylation was seen in psoriasis. In tongue and tonsillar SCC, hypomethylation was found at only two CpG sites, the same two sites that were least demethylated in psoriasis. Despite differences in the specific residues targeted for methylation/demethylation, OAS2 expression was upregulated in all conditions and correlations between methylation and expression were seen in psoriasis and tongue SCC. Distinctive methylation status at four successively located CpG sites within a genomic area of 63 bp reveals a delicately integrated epigenetic program and indicates that detailed analysis of individual CpGs provides additional information into the mechanisms of epigenetic regulation in specific disease states. Methylation analyses as clinical biomarkers need to be tailored according to disease-specific sites.
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| 3. |
- Nylander, Lena, et al.
(författare)
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Insatser och behandling vid autismspektrumtillstånd
- 2013
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Ingår i: In: G. Thernlund (red.), ADHD och autismspektrum i ett livsperspektiv. En klinisk introduktion till utvecklingsrelaterade kognitivafunktionsproblem.. - Lund : Studentlitteratur.
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Adler, Mats, et al.
(författare)
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Diagnosdiskussion
- 2016
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Ingår i: Tidskriften för Svensk Psykiatri. - 1653-8579. ; 2016:1, s. 77-78
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Senaste halvåret har en arbetsgrupp på Svenska Psykiatriska Föreningens uppdrag arbetat med problem som finns runt psykiatriska diagnoser. En viktig del av arbetet har varit att ta fram ett diskussionsunderlag främst riktat till dem som i sitt arbete sätter psykiatriska diagnoser. Detta underlag syftar till att problematisera, inte till att polemisera. Självklart har vi i gruppen uppfattningar, men vi har inte alltid samma uppfattningar inom detta område. En sak är vi dock helt överens om – psykiatrisk diagnostik är svårt! samt att det idag finns uppenbara problem.
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| 5. |
- Adler, Mats, et al.
(författare)
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Psykiatrisk diagnostik är svårt.
- 2015
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Ingår i: Tidskriften för Svensk Psykiatri. - 1653-8579. ; 2015:4, s. 36-37
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 6. |
- Alonso, Lorena, et al.
(författare)
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TIGER : The gene expression regulatory variation landscape of human pancreatic islets
- 2021
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Ingår i: Cell Reports. - : Elsevier BV. - 2211-1247. ; 37:2
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic islet genotype tissue-expression resource (TIGER), aggregating >500 human islet genomic datasets from five cohorts in the Horizon 2020 consortium T2DSystems. We impute genotypes using four reference panels and meta-analyze cohorts to improve the coverage of expression quantitative trait loci (eQTL) and develop a method to combine allele-specific expression across samples (cASE). We identify >1 million islet eQTLs, 53 of which colocalize with T2D signals. Among them, a low-frequency allele that reduces T2D risk by half increases CCND2 expression. We identify eight cASE colocalizations, among which we found a T2D-associated SLC30A8 variant. We make all data available through the TIGER portal (http://tiger.bsc.es), which represents a comprehensive human islet genomic data resource to elucidate how genetic variation affects islet function and translates into therapeutic insight and precision medicine for T2D.
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| 7. |
- Andersen, Lisa M. J., et al.
(författare)
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The Swedish Version of the Ritvo Autism and Asperger Diagnostic Scale: Revised (RAADS-R) : A Validation Study of a Rating Scale for Adults
- 2011
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Ingår i: Journal of autism and developmental disorders. - New, York, USA : Springer. - 0162-3257 .- 1573-3432. ; 41:12, s. 1635-1645
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Tidskriftsartikel (refereegranskat)abstract
- There is a paucity of diagnostic instruments for adults with autism spectrum disorder (ASD). This study evaluates the psychometric properties of the Swedish version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), an 80-item self-rating scale designed to assist clinicians diagnosing ASD in adults. It was administered to 75 adults with ASD and 197 comparison cases. Also, a subset completed the Autism Spectrum Quotient (AQ). Three out of four subscales had high internal consistency. Sensitivity was 91% and specificity was 93%. The ASD subjects had significantly higher mean scores on all subscales. ASD females had higher scores than ASD males on the sensory motor subscale, a dimension not included in the AQ. RAADS-R showed promising test re-test reliability.
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| 8. |
- Axmon, Anna, et al.
(författare)
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Psychiatric care utilization among older people with intellectual disability in comparison with the general population: a register study
- 2016
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Ingår i: Bmc Psychiatry. - : Springer Science and Business Media LLC. - 1471-244X. ; 16
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Tidskriftsartikel (refereegranskat)abstract
- Background: People with intellectual disability have been found to have higher prevalence of psychiatric disorders than the general population. However, they do not seem to have a corresponding increase in psychiatric care utilization. The aim of the present study was to investigate psychiatric care utilization among older people with intellectual disability. Methods: We used a cohort of people with intellectual disability, 55+ years in 2012 (n = 7936), and an equally sized age and sex matched reference cohort from the general population. Psychiatric care utilization was measured using registrations in the Swedish National Patient register during 2002-2012, where each registration corresponds to a psychiatric care occasion. Results: About 20 % of those with intellectual disability had at least one registration during the study period, compared to some 6 % in the general population sample. In the whole cohort as well as stratified by sex, people with intellectual disability were 3-4 times more likely than those in the general population sample to have had at least one registration during the study period. The effect was, however, only consistent in age groups comprising people younger than 65 years. Among people with intellectual disability, men were more likely than women to have had at least one registration, and people living in special housing (group home or service home) during the entire study period were less likely than those who only lived in special housing for parts of the study or not at all. People with intellectual disability had longer stays per inpatient registration compared with the general population sample. When stratifying on sex, the effect was found only among men, although there were no sex differences within the cohort of people with intellectual disability. Among people with intellectual disability, living in special housing during the entire study period was associated with shorter stays per inpatient registration. Conclusions: Although people with intellectual disability had higher psychiatric care utilization than the general population during the 11 year study period, it does not correspond to the high prevalence of psychiatric disorders in this population. Future research is required to establish if the level of care utilization is appropriate among older people with intellectual disability.
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| 9. |
- Backman, Ellen, 1981-, et al.
(författare)
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Metoder för att stimulera språk och kommunikation hos barn, ungdomar och vuxna inom habiliteringen
- 2015
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Språkliga och kommunikativa begränsningar är vanligt förekommande vid ett flertal av de diagnoser och tillstånd som återfinns hos personer inom habiliteringsverksamheter i Sverige och förutsätter en tvärprofessionell och långvarig insats. Syftet med föreliggande arbete är att systematiskt beskriva bästa tillgängliga evidens avseende interventioner fokuserade på språklig och kommunikativ förmåga för personer med medfödda funktionsnedsättningar från sex års ålder och uppåt inom habiliteringsverksamhet. Arbetet kan ses som en fortsättning på EBH-rapporten ”Tidiga kommunikations- och språkinsatser till förskolebarn”.Internationellt publicerade interventionsstudier från de senaste 15 åren med fokus på språkliga och kommunikativa förmågor vid typiskt förekommande diagnoser inom habiliteringsverksamhet granskades och sammanfattades. Initialt inkluderades endast översiktsartiklar och metaanalyser, men då dessa till största delen hade fokus på autism och/eller Alternativ och Kompletterande Kommunikation (AKK) utökades sökningen till att även inkludera ett antal primärstudier med annat fokus. Rapporten omfattar 67 studier.Resultatet visar att ”stark rekommendation att använda” (enligt GRADE) endast förekommer i begränsad utsträckning, och när det förekommer är det vid insatser relaterade till autism och/eller AKK. ”Stark rekommendation att inte använda” finns vid insatser relaterade till akupunktur/akupressur och faciliterad kommunikation. Det kan konstateras att det finns en stor brist på studier avseende vuxna personer respektive intellektuell funktionsnedsättning.Detta arbete tillför ytterligare kunskap till området för evidensbaserade insatser vid svårigheter när det gäller kommunikation och språk, och visar att evidens i strikt bemärkelse är svår att erhålla bland annat beroende på de små och heterogena patientgrupperna och, som en konsekvens av detta, en brist på stora randomiserade studier.
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