| 1. |
- Aasen, Elin Margrethe, et al.
(författare)
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Scandinavian Online Cancer Information as Expressions of Governmentality
- 2023
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Ingår i: Advances in Nursing Science. - : Wolters Kluwer. - 0161-9268 .- 1550-5014. ; 46, s. 293-305
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Tidskriftsartikel (refereegranskat)abstract
- We compared online distributed information provided to patients with cancer in Scandinavian countries through the lens of governmentality. A secondary comparative qualitative analysis was conducted. Discourses in online patient information showed differences in governmentality techniques across the countries: Norway used a paternalist approach, Denmark an educative approach, and Sweden an individualistic approach and expected the patients to make the “right” decisions. Online information for patients with cancer in Denmark and Norway showed high professional and health care system involvement, whereas in Sweden, there was high patient involvement. There was almost no use of the person-centered approach among the online discourses
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| 2. |
- Frykholm, Carina, 1958-
(författare)
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Clinical and Genetic Studies of Hearing Impairment
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. In paper I, constitutional DNA from 116 individuals with NF2 of variable severity was studied using the array-CGH method focusing on a 7.6-Mb area surrounding the NF2 gene on chromosome 22q. Deletions were found in 20.7% of samples. In mild NF2, the deletions were small, but variable sizes of deletions were found in cases that were moderately or severely affected. Disease phenotype could not be predicted from the size of the deletions. In papers II and III, a single five-generation family with autosomal dominant FMD was described. Anticipation concerning age of onset was observed. Genome scan revealed five candidate gene regions with a LOD score of > 1. Two additional families with autosomal dominant MD were analyzed for linkage to these five regions. A cumulative Zmax of 3.46 was obtained for a single 463-kb region on chromosome 12p12.3, containing only one known gene: PIK3C2G. This encodes a protein with a proposed role in hair cell regeneration in mammalian ears. No mutations were found in protein-coding sequences or exon-intron borders. In two of the three families, a shared haplotype, suggested common ancestry, was found to extend over 1.7 Mb, which could be a genomic region of importance for FMD. In paper IV, a family in which five males displayed progressive low- and mid-frequency hearing impairment from the first or second decade was described. Female carriers were affected by a high-frequency hearing impairment from the fourth decade. The family could represent a novel X-linked dominant audiophenotype.
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| 3. |
- Frykholm, Carina, et al.
(författare)
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Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation
- 2015
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Ingår i: Gene. - : Elsevier BV. - 0378-1119 .- 1879-0038. ; 563:1, s. 10-16
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Tidskriftsartikel (refereegranskat)abstract
- Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein. The mutation is predicted to result in haploinsufficiency of the EYA4 product. No evidence for dilated cardiomyopathy was found in the family, contrasting to a previous family with a deletion resulting in a similar truncation in the variable region. A highly variable age of onset was seen in the mutation carriers. For assessment of the aetiology of this variability, clinical and audiometric data analyses were performed. The affected family members all had similar cross-sectional and longitudinal deterioration of pure tone average (PTA) once the process of hearing deterioration had started, and no gender, parent-of-origin or family branch differences on PTA could be found. Age at onset varied between the family branches. In summary, this is the ninth published genetically verified DENA10 family. The results imply that unidentified factors, genetic or environmental, other than the EYA4 mutation, are of importance for the age at onset of DFNA10, and that mutation early in the variable region of the EYA4 protein can occur in the absence of dilated cardiomyopathy.
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| 4. |
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| 5. |
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| 6. |
- Kristiansen, Lisbeth, et al.
(författare)
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The impact of nurses' opinion of client behaviour and level of social functioning on the amount of time they spend with clients
- 2005
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Ingår i: Journal of Psychiatric and Mental Health Nursing. - : Wiley. - 1351-0126 .- 1365-2850. ; 12:6, s. 719-727
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Tidskriftsartikel (refereegranskat)abstract
- The impact of nurses' opinion of client behaviour and level of social functioning on the amount of time they spend with clients For people afflicted with different kinds of psychiatric disorder, suffering is a common denominator. The time the nurses spend with psychiatric clients may mirror their attitudes towards and feelings for these clients. The aim of this study was to investigate the connections between the time spent together and the nurses' opinion of client behaviour and social functioning in community-based psychiatry. In this quantitative study, 29 clients were assessed by 30 nurses, who answered the Global Assessment of Functioning Scale (GAF) and the Positive and Negative Syndrome Scale (PANSS). At the same time, 11,200 non-participant observations of clients were registered using the Patient Activity Classification (PAC) to investigate how they spent their time at two psychiatric group dwellings. The PAC instrument revealed that clients spent an average of 60.8% of time alone, while only 20% of their daily time was spent with the nurses. Based on a factor analysis, indices were made by setting cut-off points for the PANSS and the GAF scores, and four small groups of clients were generated: a relatively high level of social functioning and a low degree of psychiatric symptoms (A); a relatively high level of social functioning and a high degree of psychiatric symptoms (B); a low level of social functioning and a low degree of psychiatric symptoms (C); and, finally, a low level of social functioning and a high degree of psychiatric symptoms (D). The clients judged as having a low level of social functioning in combination with high degrees of psychiatric symptoms, that is, the most vulnerable and dependent individuals, receive less staff attention (18%) and are the clients who spend the most time alone (71.4%). It might be possible to interpret the results of this study in the light of a process of dehumanization.
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| 7. |
- Liu, Yangfan P., et al.
(författare)
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Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy
- 2017
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Ingår i: Ophthalmic Genetics. - Philadelphia, USA : Taylor & Francis. - 1381-6810 .- 1744-5094. ; 38:2, s. 127-132
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Tidskriftsartikel (refereegranskat)abstract
- Background: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to exhibit complex genetic interactions that can modulate the penetrance and expressivity of the phenotype.Materials and methods: In an individual with atypical RP, hearing loss, ataxia and cerebellar atrophy, whole exome sequencing was performed. The candidate pathogenic variants were tested by developing an in vivo zebrafish model and assaying for retinal and cerebellar integrity.Results: Exome sequencing revealed a complex heterozygous protein-truncating mutation in RP1L1, p.[(Lys111Glnfs*27; Gln2373*)], and a heterozygous nonsense mutation in C2orf71, p.(Ser512*). Mutations in both genes have previously been implicated in autosomal recessive non-syndromic RP, raising the possibility of a digenic model in this family. Functional testing in a zebrafish model for two key phenotypes of the affected person showed that the combinatorial suppression of rp1l1 and c2orf71l induced discrete pathology in terms of reduction of eye size with concomitant loss of rhodopsin in the photoreceptors, and disorganization of the cerebellum.Conclusions: We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. Haploinsufficiency at each of these loci is insufficient to induce overt pathology.
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| 8. |
- Manousou, Sofia, 1979, et al.
(författare)
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Iodine deficiency and nutrition in Scandinavia.
- 2017
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Ingår i: Minerva medica. - 1827-1669. ; 108:2, s. 147-158
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Tidskriftsartikel (refereegranskat)abstract
- Iodine nutrition is a result of geological conditions, iodine fortification and monitoring strategies within a country together with the dietary habits of the population. This review summarizes the basis for the current iodine situation in the Scandinavian countries in order to identify gaps in knowledge, determine necessary future steps, highlight landmarks in Scandinavian iodine research and consider ongoing studies in Scandinavian countries with high international impact. Historically, iodine deficiency disorders such as goiter were common in Norway and Sweden, but not in Denmark. Different strategies have been used in Scandinavia to improve iodine nutrition. The major source of iodine is iodized salt in Sweden and from milk and dairy products in Norway. In Denmark, drinking water, milk, dairy products and iodized salt used in commercial production of bread are the important sources of iodine. The current iodine status in Scandinavia is not optimal and action is ongoing to increase iodination in Denmark, where there is mild iodine deficiency in the general population. Data from all three countries indicate insufficient iodine nutrition during pregnancy and there is a need for data from children, adolescents and young women. Monitoring a population's iodine status and dietary iodine sources is necessary to secure iodine nutrition in Scandinavia. Ongoing studies in Scandinavia will contribute significantly to the knowledge about the effects of mild to moderate iodine deficiency.
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| 9. |
- Schmidt-Christensen, Anja, et al.
(författare)
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Imaging dynamics of CD11c(+) cells and Foxp3(+) cells in progressive autoimmune insulitis in the NOD mouse model of type 1 diabetes
- 2013
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Ingår i: Diabetologia. - : Springer Science and Business Media LLC. - 1432-0428 .- 0012-186X. ; 56:12, s. 2669-2678
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to visualise the dynamics and interactions of the cells involved in autoimmune-driven inflammation in type 1 diabetes. We adopted the anterior chamber of the eye (ACE) transplantation model to perform non-invasive imaging of leucocytes infiltrating the endocrine pancreas during initiation and progression of insulitis in the NOD mouse. Individual, ACE-transplanted islets of Langerhans were longitudinally and repetitively imaged by stereomicroscopy and two-photon microscopy to follow fluorescently labelled leucocyte subsets. We demonstrate that, in spite of the immune privileged status of the eye, the ACE-transplanted islets develop infiltration and beta cell destruction, recapitulating the autoimmune insulitis of the pancreas, and exemplify this by analysing reporter cell populations expressing green fluorescent protein under the Cd11c or Foxp3 promoters. We also provide evidence that differences in morphological appearance of subpopulations of infiltrating leucocytes can be correlated to their distinct dynamic behaviour. Together, these findings demonstrate that the kinetics and dynamics of these key cellular components of autoimmune diabetes can be elucidated using this imaging platform for single cell resolution, non-invasive and repetitive monitoring of the individual islets of Langerhans during the natural development of autoimmune diabetes.
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| 10. |
- Tracewska-Siemiątkowska, Anna, et al.
(författare)
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
- 2017
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Ingår i: Genes. - Basel, Switzerland : MDPI AG. - 2073-4425 .- 2073-4425. ; 8:12
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Tidskriftsartikel (refereegranskat)abstract
- Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in YARS underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders.
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