| 1. |
- Aneq Åström, Meriam, et al.
(författare)
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Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
- 2012
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Ingår i: Scandinavian Cardiovascular Journal. - : Informa Healthcare. - 1401-7431 .- 1651-2006. ; 46:2, s. 72-75
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC)has been linked to mutations in desmosomal proteins. Different studies have shown that amutation in plakophilin-2 (PKP 2) is a frequent genetic cause for ARVC. We describe a newmutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinicalconsequences. Design: Individuals in a three generation family were investigated after the sudden cardiac death of a young male. Clinical evaluation, electrocardiography, echocardiography, magnetic resonance imaging, endomyocardial biopsy and genetic testing were performed. Results: A novel heterozygote mutation, a c.368G>A transition, located in exon 3 of the PKP2 gene was found (p.Trp123X). The phenotype was characterized by arrhythmia at an early age in some individuals, with mild abnormalities on imaging. However a relative carrying this mutation, with positive findings on endomyocardial biopsy had an otherwise normal phenotype, for 16 years, whereas a relative fulfilling the modified Task Force Criteria for ARVC turned out to be a non-carrier. Conclusions: This shows the variable penetrance and phenotypic expression in ARVC and highlights the need of genetic testing as well as a thorough phenotype examination as a part of the investigations in ARVC pedigrees.
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| 2. |
- Engström, Karolina, et al.
(författare)
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Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection
- 2020
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Ingår i: Molecular Genetics & Genomic Medicine. - : John Wiley & Sons. - 2324-9269. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- Background: Pathogenic variants in the SMAD3 gene affecting the TGF-beta/SMAD3 signaling pathway with aortic vessel involvement cause Loeys-Dietz syndrome 3, also known as aneurysms-osteoarthritis syndrome.Methods: Description of clinical history of a family in Sweden using clinical data, DNA sequencing, bioinformatics, and pedigree analysis.Results: We report a novel SMAD3 variant, initially classified as a genetic variant of uncertain clinical significance (VUS), and later found to be co-segregating with aortic dissection in the family. The index patient presented with a dissecting aneurysm of the aorta including the ascending, descending, and abdominal parts. Genotype analysis revealed a heterozygous missense SMAD3 variant: NM_005902.3(SMAD3): c.11576G > C (p.Arg386Thr). The same variant was also identified in a 30 years old formalin-fixed paraffin-embedded block of tissue from a second cousin, who died at 26 years of age from a dissecting aneurysm of the aorta.Conclusion: A "variant of uncertain significance" according to the ACMG guidelines has always a scope for reappraisal. Genetic counselling to relatives, and the offering of surveillance service is important to families with aortic aneurysm disease. The report also highlight the potential use of FFPE analysis from deceased relatives to help in the interpretation of variants.
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| 3. |
- Gréen, Anna, et al.
(författare)
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Assessment of HaloPlex Amplification for Sequence Capture and Massively Parallel Sequencing of Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes
- 2015
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Ingår i: Journal of Molecular Diagnostics. - : Elsevier BV. - 1525-1578 .- 1943-7811. ; 17:1, s. 31-42
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Tidskriftsartikel (refereegranskat)abstract
- The genetic basis of arrhythmogenic right ventricular cardiomyopathy (ARVC) is complex. Mutations in genes encoding components of the cardiac desmosomes have been implicated as being causally related to ARVC. Next-generation sequencing allows parallel sequencing and duplication/deletion analysis of many genes simultaneously, which is appropriate for screening of mutations in disorders with heterogeneous genetic backgrounds. We designed and validated a next-generation sequencing test panel for ARVC using HaloPlex. We used SureDesign to prepare a HaloPlex enrichment system for sequencing of DES, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43, and TIN from patients with ARVC using a MiSeq instrument. Performance characteristics were determined by comparison with Sanger, as the gold standard, and TruSeq Custom Amplicon sequencing of DSC2, DSG2, DSP, JUP, and PKP2. All the samples were successfully sequenced after HaloPlex capture, with >99% of targeted nucleotides covered by >20x. The sequences were of high quality, although one problematic area due to a presumptive context-specific sequencing error causing motif Located in exon 1 of the DSP gene was detected. The mutations found by Sanger sequencing were also found using the HaloPlex technique. Depending on the bioinformatics pipeline, sensitivity varied from 99.3% to 100%, and specificity varied from 99.90/0 to 100%. Three variant positions found by Sanger and HaloPlex sequencing were missed by TruSeq Custom Amplicon owing to Loss of coverage.
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| 4. |
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Med språket som arbetsredskap : Sju studier av kommunikation i vården
- 2012. - 1
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- Svensk forskning om språk i arbetslivet intresserar sig alltmer för vård och omsorg. Delvis hänger detta samman med en förändrad arbetssituation för de vårdanställda, som medfört ökande krav på kommunikation i arbetet. Personalen förväntas bland annat kunna dokumentera sina insatser, bemöta patienter på ett servicemässigt korrekt sätt och informera olika målgrupper om svåra eller känsliga ämnen. Texterna i denna volym handlar om fleraolika yrkesgrupper inom vården: om läkare, barnmorskor, sjuksköterskor verksamma vid sjukvårdsrådgivningen, undersköterskor och vårdbiträden i äldreomsorgen samt telefonoperatörer som tar emot färdtjänstbeställningar. Detta speglar hur vårdsektorn ser ut idag: många olika kompetenser behöver samverka och kommunicera, samtidigt som de språkliga utmaningar som möter de vård-anställda blir alltmer komplicerade och krävande. Patienten sätts också i ökande grad i centrum, vilket gör att kommunikation som arbetsredskap är något som behöver medvetandegöras.Bokens författare är verksamma som språkforskare och intresserade av olika aspekter av språk och kommunikation i vården. I sina bidrag analyserar de normer som styr hur språket används i samtal och texter, liksom hur språket bygger upp och fungerar i olika kontexter. Författarna intresserar sig också för hur språkvetenskapens analysområde gränsar till och överlappar andra vetenskaper, som vårdvetenskap och samhällsvetenskap. Här framtonar ett mångvetenskapligt fält där delvis nya metoder kan behöva utvecklas. Denna utveckling är ett genomgående tema för samtliga bidrag i den här boken.
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| 5. |
- Rehnberg, Hanna Sofia, 1973-
(författare)
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Organisationer berättar : Narrativitet som resurs i strategisk kommunikation
- 2014
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The subject of this thesis is the communicative practice of strategic storytelling. The aim of the study is to analyse how storytelling is used and handled by organizations to reach comprehensive organizational goals. Within the all-embracing cultural context of modern Western society, here discussed through the concept of the new economy, strategic storytelling is explored in four areas: organizational discourses of strategic storytelling, narrativity as a resource to create and express values connected to the organization, storytelling as a practice of recontextualization and storytelling as an interactive tool. The data consists mainly of strategic stories but also of interviews, observations and documents collected from four Swedish organizations: two companies, a municipality and a congregation of the Church of Sweden. Applying a narratological, social semiotic and dialogical perspective the study investigates how narrativity is used by organizations as a resource to create identification and relations with and among stakeholders.The analyses in the study indicate that meaning is created in different layers. The structural resources of stories are used in various combinations to make organizations appear in specific ways in different situations. Furthermore, the picture of the organization is shaped not only by the stories themselves but also by the very fact that the organization is using storytelling. The potential of recontextualization that is characteristic of narratives is shown to be essential in offering possibilities of identification and a sense of community through storytelling. Furthermore, the fact that a story is told by an individual is shown to play a crucial role in creating a personalized picture of the organization.In strategic storytelling the interpersonal function seems to dominate over the ideational. This is a major finding of the analysis. More specifically, ideation is used as a tool to create interpersonal relations. The study also indicates that strategic storytelling comes with different possibilities and complications depending on what kind of organization is using it. Moreover, it is proposed that narrative as a form of communication fits perfectly within the broader cultural context of the new economy, characterized by commercialization, informalization, individualization and management practices founded on the strategic use of values.
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| 6. |
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| 7. |
- Svensson, Anneli, et al.
(författare)
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Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
- 2016
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Ingår i: American journal of cardiovascular disease. - Madison, WI, United States : E-Century Publishing Corporation. - 2160-200X. ; 6:2, s. 55-65
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Tidskriftsartikel (refereegranskat)abstract
- In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied. Our primary aim was to determine the carriers that fulfilled the arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnostic criteria of 2010. Our secondary aim was to investigate whether any specific clinical characteristics can be attributed to this particular gene variant. Index patients were assessed using next generation ARVC panel sequencing technique and their family members were assessed by Sanger sequencing targeted at the PKP2 c.2146-1G>C variant. The gene variant carriers were offered a clinical follow-up, with evaluation based on the patient's history and a standard set of non-invasive testing. The PKP2 c.2146-1G>C gene variant was found in 23 of 41 patients who underwent the examination. Twelve of the 19 family members showed "possible ARVC". One with "borderline ARVC" and the rest with "definite ARVC" demonstrated re-polarization disturbances, but arrhythmia was uncommon. A lethal event occurred in a 14-year-old boy. In the present study, no definitive genotype-phenotype correlations were found, where the majority of the family members carrying the PKP2 c.2146-1G>C gene variant were diagnosed with "possible ARVC". These individuals should be offered a long-term follow-up since they are frequently symptomless but still at risk for insidious sudden cardiac death due to ventricular arrhythmia.
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