| 1. |
- Stattin, Eva-Lena, et al.
(författare)
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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing
- 2012
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Ingår i: BMC Cardiovascular Disorders. - : BioMed Central. - 1471-2261 .- 1471-2261. ; 12, s. 95-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort.Methods: Between March 2006 and October 2009, two hundred, unrelated index cases were referred to the Department of Clinical Genetics, Umea University Hospital, Sweden, for LQTS genetic testing. We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) for mutations by DHPLC and/or sequencing. We applied MLPA to detect large deletions or duplications in the KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes. Furthermore, the gene RYR2 was screened in 36 selected LQTS genotype-negative patients to detect cases with the clinically overlapping disease catecholaminergic polymorphic ventricular tachycardia (CPVT).Results: In total, a disease-causing mutation was identified in 103 of the 200 (52%) index cases. Of these, altered exon copy numbers in the KCNH2 gene accounted for 2% of the mutations, whereas a RYR2 mutation accounted for 3% of the mutations. The genotype-positive cases stemmed from 64 distinct mutations, of which 28% were novel to this cohort. The majority of the distinct mutations were found in a single case (80%), whereas 20% of the mutations were observed more than once. Two founder mutations, KCNQ1 p.Y111C and KCNQ1 p.R518*, accounted for 25% of the genotype-positive index cases. Genetic cascade screening of 481 relatives to the 103 index cases with an identified mutation revealed 41% mutation carriers who were at risk of cardiac events such as syncope or sudden unexpected death.Conclusion: In this cohort of Swedish index cases with suspected LQTS, a disease-causing mutation was identified in 52% of the referred patients. Copy number variations explained 2% of the mutations and 3 of 36 selected cases (8%) harboured a mutation in the RYR2 gene. The mutation panorama is characterised by founder mutations (25%), even so, this cohort increases the amount of known LQTS-associated mutations, as approximately one-third (28%) of the detected mutations were unique.
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| 2. |
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| 3. |
- Bergqvist, David, et al.
(författare)
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Akupunktur kan ge kärlskador
- 1998
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 95:3, s. 180-181
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Boström, Annika, et al.
(författare)
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Duplex scanning as the sole preoperative imaging method for infrainguinal arterial surgery
- 2002
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Ingår i: European Journal of Vascular and Endovascular Surgery. - : Elsevier BV. - 1078-5884 .- 1532-2165. ; 23:2, s. 140-145
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: to evaluate preoperative duplex as the sole investigation prior to lower limb reconstruction. Design retrospective analysis. MATERIALS AND METHODS: between January 1995 and December 1999, 157 of 329 surgical interventions for chronic infrainguinal arterial or aneurysmal disease were performed without preoperative angiography. RESULTS: in patients undergoing femoral artery endarterectomy, the extent of the stenosis and the status of the distal deep femoral artery were correctly diagnosed with duplex scanning in all but one patient. Duplex scan findings in patients undergoing infrainguinal bypass procedures were in agreement with the findings obtained from on-table angiography in regard to the selection of optimal outflow anastomotic sites in 123 (98%). Duplex scanning correctly evaluated the status of runoff in 113 (90%). There were no significant differences in 30-day occlusion rate and patency at 12 months between reconstructions performed with and without preoperative angiography. CONCLUSION: in patients with conclusive duplex scan findings there is no need to perform angiography prior to lower limb reconstruction.
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| 5. |
- Boström, Annika, et al.
(författare)
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Repeat surgery without preoperative angiography in limbs with patent infrainguinal bypass grafts
- 2002
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Ingår i: European Journal of Vascular and Endovascular Surgery. - : SAGE Publications. - 1078-5884 .- 1532-2165. ; 36:5, s. 343-350
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to assess the feasibility and results of repeat surgery without preoperative angiography in limbs with patent infrainguinal bypass grafts. Between January 1995 and December 1999, 73 surgical interventions were performed for correction of inflow, graft, or runoff-related lesions in limbs with patent infrainguinal bypass grafts. Fifty-six of the 73 cases were operated on based on the findings obtained from duplex scanning alone. There were 53 vein and 3 prosthetic grafts in the series. The indications for intervention without angiography were stenotic or occlusive lesions in 35, graft aneurysm in 7, and arteriovenous fistulae in 14. There were no deviations from the preoperatively planned surgical strategy in patients undergoing surgery without preoperative angiography. Cumulative life table primary, (stenosis free) and primary-assisted patency rates, at 12 months following graft revisions (excluding arteriovenous fistulae ligatures) without preoperative angiography, were 64% and 85%, respectively. The corresponding figures for revisions performed with preoperative angiography were 58% and 84%, respectively. There were no significant differences between patients undergoing surgery with or without preoperative diagnostic angiography with regard to patency rates. Surgical interventions for correction of infrainguinal graft-related stenotic or aneurysmal lesions can be safely performed based on findings obtained from duplex scanning.
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| 6. |
- Boström Ardin, Annika, et al.
(författare)
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Selection of patients with infrainguinal arterial occlusive disease for percutaneous transluminal angioplasty with duplex scanning
- 2002
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Ingår i: Acta Radiologica. - 0284-1851 .- 1600-0455. ; 43:4, s. 391-395
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To evaluate the role of duplex scanning in the selection of patients with infrainguinal arterial occlusive disease for percutaneous transluminal angioplasty (PTA). MATERIAL AND METHODS: From January 1995 through May 2000, 702 patients (952 limbs), with chronic lower extremity ischemia due to infrainguinal atherosclerotic disease diagnosed by duplex scanning, were retrospectively studied. Diagnostic angiography (130 limbs) or infrainguinal PTA (108 limbs) was performed in 238 limbs. Two investigators retrospectively analyzed the duplex examinations and angiographies in a blinded manner and used similar criteria for the interpretation of lesions suitable or not suitable for PTA. RESULTS: The superficial femoral, popliteal and crural artery lesions were correctly selected for PTA in 85%, 66% and 32%, respectively. The accuracy, sensitivity, specificity, negative predictive value and positive predictive value of duplex scanning to appropriately categorize femoropopliteal lesions as suitable or unsuitable for PTA were 89%, 83%, 92%, 94% and 78%, respectively. The accuracy of duplex scanning for predicting the performance of infrainguinal PTA was 83%. CONCLUSION: Duplex scanning has an important impact on the selection of treatment modalities in limbs with infrainguinal arterial occlusive disease. Femoropopliteal lesions can be reliably selected to PTA according to duplex scan findings.
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| 7. |
- Boström Ardin, Annika, et al.
(författare)
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Surgical reconstruction without preoperative angiography in patients with aortoiliac occlusive disease
- 2002
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Ingår i: Annals of Vascular Surgery. - : Elsevier BV. - 0890-5096 .- 1615-5947. ; 16:3, s. 273-278
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Tidskriftsartikel (refereegranskat)abstract
- The objective of this study was to evaluate the feasibility of performing surgical reconstructions in patients with aortoiliac occlusive disease with findings obtained solely from duplex scanning. Between January 1995 through December 1999, among 112 patients who underwent surgical intervention due to aortoiliac occlusive disease, 44 were operated on with findings obtained solely from preoperative duplex scanning. Deviations from preoperatively planned surgical interventions according to duplex scan findings and the outcome were analyzed. Our results showed that surgical reconstructions for treatment of aortoiliac occlusive disease can be safely performed by using duplex scanning as the sole preoperative diagnostic modality in patients with conclusive duplex scan findings.
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| 8. |
- Boström Ardin, Annika
(författare)
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The impact of duplex scanning in the management of chronic lower limb arterial disease
- 2001
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- In patients with chronic lower extremity ischemia in which endovascular or surgical intervention is considered non-invasive evaluation by duplex scanning provides important anatomical and hemodynamic information. The aim of this thesis was to evaluate the impact of duplex scanning in the selection of various therapeutic alternatives in limbs with lower extremity arterial insufficiency. During a 5-year period, the feasibility and safety of performing following interventions with the findings obtained solely from duplex scanning were evaluated: 1- endovascular intervention of the iliac (n=93) and the infrainguinal arteries (n=108); 2- surgical reconstructions in patients with aorto-iliac occlusive disease (n=44); 3- femoral artery endarterectomy (n=32) and infrainguinal bypass grafting (n=125); 4- redo surgery in limbs with patent infrainguinal bypass grafts (n=56). The accuracy of duplex scanning to appropriately categorise iliac and infrainguinal arterial lesions into suitable or unsuitable for endovascular intervention was 90 and 91%, respectively. Of 284 surgical reconstructions performed without angiography, there were no deviations from preoperatively planned surgical strategy in all but 4 patients. Cumulative life table primary assisted patency rates at 12 months after supraingainal, infrainguinal and redo bypass surgery were 86, 74 and 85 %, respectively. In conclusion, duplex scanning has an important impact on the selection of treatment modalities in patients with chronic lower limb arterial disease. Aorto-iliac and infrainguinal surgical and endovascular interventions can safely be planned and performed solely based upon duplex scan findings in patients with conclusive scans.
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| 9. |
- Boström, Eva, et al.
(författare)
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Diabetes specialist nurses' perceptions of their multifaceted role
- 2012
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Ingår i: European Diabetes Nursing. - : Maney Publishing. - 1551-7853 .- 1551-7861. ; 9:2, s. 39-44
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to explore diabetes specialist nurses' (DSNs') perceptions of their professional role in diabetes care.Exploratory interviews were used to elicit DSNs' perceptions of their professional role. Twenty-nine DSNs working in 23 primary health care centres in northern Sweden were interviewed in focus groups. Data were analysed using qualitative content analysis.The DSNs described their profession as encompassing five major roles: ‘expert’, ‘fosterer’, ‘executive’, ‘leader’, and ‘role model’. Challenges interpreted as role ambiguities included feeling uninformed, fragmented, resigned, pressed for time, and self-reproachful.The profession of DSN was interpreted as multifaceted, with various roles and role ambiguities. Patient-centred care and empowerment, which are recommended in diabetes care, can be difficult to achieve when DSNs experience role ambiguity.Lack of clarity about role demands and difficulty in reconciling different roles may have a negative impact on DSNs' attitudes in clinical encounters and could inhibit patient-centred care. The development of the DSN profession requires improved awareness of the DSN's professional role in the clinical encounter, not only to improve the care of patients with diabetes, but also to retain these professionals.
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| 10. |
- Egan Sjölander, Annika, 1971-, et al.
(författare)
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Framing chemicals in Sweden and Poland : journalists’ narratives and media texts
- 2010
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Ingår i: Regulating chemical risks. - Dordrecht : Springer. - 9789048194278 ; , s. 45-69
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- How are chemicals framed in the press in Sweden and in Poland? We have conducted interviews with journalists representing local press, tabloids and national newspapers in order to grasp the professionals’ own narratives about chemicals and also the range of diversity within journalism. What at first can appear as a marginalized topic, chemicals, partly because it is not an established journalistic genre, has turned out to have many faces. All news treating additives in food production and every report relating to medicines, such as the growing resistance towards antibiotics among the population, is part of the discourse, not to mention accidental releases of hazardous substances, etc. Secondly, it is a central part of the study to understand how these dominant themes are textually constructed in the press coverage. The news and media debate about chemicals are not only a central information source for the majority of citizens; the mass media also influence stakeholders, opinion-leaders and decision-makers in society. By and large the results indicate that the types of frames that are used by journalists in these two countries have a lot in common, even if the content of the media texts and the specific national contexts differ substantially between Sweden and Poland.
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