| 1. |
- Bergman, Annika, et al.
(författare)
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A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques
- 2005
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Ingår i: Familial Cancer. - : Springer. - 1389-9600 .- 1573-7292. ; 4:2, s. 89-96
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Tidskriftsartikel (refereegranskat)abstract
- Dominant inheritance is presumed in 6-10% of breast and ovarian cancers. Mutations in BRCA1 and BRCA2 genes are the most commonly identified causative genes in such families. The frequency of mutation carriers with breast/ovarian cancer depends on the population studied, and display considerable variation that coincides with ethnic and geographical diversity. Mutation analyses were performed in 143 families registered at the Cancer Genetic Counseling Clinic of western Sweden. In a thorough mutation screening procedure, the entire BRCA1 and BRCA2 genes were analyzed using a combination of complementary mutation detection techniques. Mutations in either BRCA1 or BRCA2 were detected in 36% (52 out of 143) of all screened families. All families were clinically evaluated regarding age at diagnosis, type of cancer and number of cancer cases in the family. Among high-risk families, the mutation detection rate was 39% (46 out of 117). The detection rate observed among families with cases of ovarian cancer (42 out of 62, 68%), was substantially higher than in families with only breast cancer (10 out of 81, 12%). Age at ovarian cancer did not seem to have an effect on the detection rate. The analyses revealed 11 frameshift mutations, 4 nonsense mutations and 2 large deletions. Notably, the BRCA1 c.3171ins5 mutation accounted for 34 of 52 (65%) identified mutations. Seven mutations are novel: BRCA1c.409_410del; c.1912T>G; c.2228_2229del; c.3029delA; c.3433delA, a large deletion covering exons 1-3 of BRCA1and one BRCA2 mutation; BRCA2c.6287_6290del. We have shown that the founder mutation BRCA1 c.3171ins5 has a great influence on western Swedish breast/ovarian cancer families along with a high number of mutations unique for the region. In order to achieve a high mutation detection rate we suggest a combination of several detection techniques.
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| 2. |
- Habla, Wolfgang, et al.
(författare)
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Should it stay, or swerve? Trading off lives in dilemma situations involving autonomous cars
- 2024
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Ingår i: HEALTH ECONOMICS. - 1057-9230 .- 1099-1050.
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Tidskriftsartikel (refereegranskat)abstract
- Using a representative survey with 1317 individuals and 12,815 moral decisions, we elicit Swedish citizens' preferences on how algorithms for self-driving cars should be programmed in cases of unavoidable harm to humans. Participants' choices in different dilemma situations (treatments) show that, at the margin, the average respondent values the lives of passengers and pedestrians equally when both groups are homogeneous and no group is to blame for the dilemma. In comparison, the respondent values the lives of passengers more when the pedestrians violate a social norm, and less when the pedestrians are children. Furthermore, we explain why the average respondent in the control treatment needs to be compensated with two to six passengers spared in order to sacrifice the first pedestrian, even though she values the lives of passengers and pedestrians equally at the margin. We conclude that respondents' choices are highly contextual and consider the age of the persons involved and whether these persons have complied with social norms.
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| 3. |
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| 4. |
- Martinsson, Lisa, 1985-
(författare)
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Quality improvement in palliative care : the role of a national quality register and perceptions of information during palliative chemotherapy
- 2015
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- IntroductionThere is a need in palliative care for development of structured methods to assess quality and support improvement. This need is present both within and outside specialised palliative care.Honest information from physicians is regarded as an important part of palliative care. Information about the transition to end-of-life care (ITEOL), conveyed by physicians to patients, has also been described as a ‘breakpoint conversation’.Quality registers enable monitoring and improvement of quality of care, and clinical research. The Swedish Register of Palliative Care (SRPC) is a Swedish national quality register that collects data from hospitals, hospices, nursing homes and home care, with an end-of-life questionnaire (ELQ) about palliative care content focusing on the last week of life.AimsStudy I – The aim was to examine the validity of the ELQ from the SRPC.Study II – The aim was to examine whether participation in the SRPC increases the quality of palliative care over a three-year period regarding eight items in the ELQ.Study III – The aim was to examine whether an educational intervention for physicians and nurses in nursing homes and hospitals increases the proportion of patients who receive ITEOL.Study IV – The aim was to describe how patients with cancer perceive the information they receive from physicians during palliative chemotherapy.MethodsStudy I – Data from 100 medical records and data from the paper versions of the ELQ filled in at a specialised palliative unit were compared with data reported to the SRPC.Study II – Data from eight items in the ELQ reported to the SRPC from all healthcare units that had reported patients continuously during a three-year period were compared year-by-year with logistic regression.Study III – Two municipalities (in charge of nursing homes) and two hospitals were randomised to receive an interactive half-day course about ITEOL for physicians and nurses. Four hospitals and four municipalities were assigned matched controls. The proportion of patients who received ITEOL before and after the intervention was measured with the ELQ. The effect of the intervention was analysed with a multivariable logistic regression model.Study IV – Fifteen semi-structured interviews with patients with incurable cancer were conducted, transcribed verbatim and analysed with qualitative content analysis.ResultsStudy I – The questions in the ELQ showed a congruity of 22% to 100% when comparing data from medical records with data reported to the SRPC. Eight questions fell below 80%. The paper versions filled in at the unit and the data reported to the SRPC showed a congruity of between 91% and 100%.Study II – The prevalence of six symptoms decreased. The prescription of PRN (pro re nata – ‘as needed’) medications for pain, nausea, anxiety and death rattle increased. A higher proportion of patients died in their place of preference. The patient’s next of kin was more often offered a follow-up appointment after the patient’s death. There was no change in the proportion of patients or next of kin who received ITEOL.Study III – The proportion of patients in the intervention group who received ITEOL increased from 35.1% (during a six-month period before the intervention) to 42.0% (during a six-month period after the intervention). The proportion in the control group increased from 30.4% to 33.7%. The effect of the intervention was significant (p=0.005) in the multivariable model.Study IV – Three categories were disclosed during the analytical process: ‘living with a death sentence’, ‘depending on chemotherapy’, and ‘living with uncertainty’.ConclusionsA national quality register has the potential of contributing to quality improvement in palliative care. Study I showed varied validity in the ELQ, implying a need to modify the questionnaire. Study II showed that participation in the SRPC was covariant with quality improvements in end-of-life care over time. Study III showed that more patients received ITEOL after an educative half-day intervention directed to physicians and nurses. Study IV showed that patients undergoing palliative chemotherapy perceived that their disease was incurable and deadly, and that conditions for future treatment and survival were uncertain.
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| 5. |
- Martinsson, Tommy, 1956, et al.
(författare)
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Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.
- 2000
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424. ; 97:26, s. 14614-9
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Tidskriftsartikel (refereegranskat)abstract
- We here report on a human myopathy associated with a mutation in a fast myosin heavy chain (MyHC) gene, and also the genetic defect in a hereditary inclusion body myopathy. The disorder has previously been described in a family with an "autosomal dominant myopathy, with joint contractures, ophthalmoplegia, and rimmed vacuoles." Linkage analysis and radiation hybrid mapping showed that the gene locus (Human Genome Map locus name: IBM3) is situated in a 2-Mb region of chromosome 17p13, where also a cluster of MyHC genes is located. These include the genes encoding embryonic, IIa, IIx/d, IIb, perinatal, and extraocular MyHCs. Morphological analysis of muscle biopsies from patients from the family indicated to us that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal. This observation prompted us to investigate the MyHC-IIa gene, since MyHC-IIa is the major isoform in type 2A fibers. The complete genomic sequence for this gene was deduced by using an "in silico" strategy. The gene, found to consist of 38 exons, was subjected to a complete mutation scan in patients and controls. We identified a missense mutation, Glu-706 --> Lys, which is located in a highly conserved region of the motor domain, the so-called SH1 helix region. By conformational changes this region communicates activity at the nucleotide-binding site to the neck region, resulting in the lever arm swing. The mutation in this region is likely to result in a dysfunctional myosin, compatible with the disorder in the family.
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| 6. |
- Tallberg Broman, Ingegerd, et al.
(författare)
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Genusperspektiv på förskola, skola och utbildning : Några inlägg från en arbetsgrupp på lärarutbildningen
- 2002
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Baksidestext: Var står genusperspektiv idag och vilka frågor är högljudda och aktuella? Är genusperspektiv, liksom andra perspektiv, beroende av enstaka entusiaster, och är det en ren tillfällighet om de studerande möter genusperspektiv i utbildningen? Hur ser skolans vardag ut i ett genusperspektiv? Varför är det så angeläget att få fler män till skolan? Hur ser pedagogernas föreställningar om barn och genus ut? Handlar det om självständiga flickor och behövande pojkar? Flickor med förnuft och pojkar med kropp? Hur ser killarna på yrkesprogrammen på sin situation? Hur tänker högstadieflickor och pojkar om NO? Kan genusperspektiv innebära att synliggöra det osynliggjorda? Vad händer med alla ambitioner i detta område när man går från utbildningstid till klassrummet? Detta är några frågor som tas upp i denna rapport. Nio författare, varav två nyblivna lärare och sju lärarutbildare, sammanfattar här några av sina erfarenheter och väcker frågor utifrån genusperspektiv på förskolans och skolans praktik och teori.
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