| 1. |
- Moberg, Christina, et al.
(författare)
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De unga gör helt rätt när de stämmer staten
- 2022
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Ingår i: Aftonbladet. - 1103-9000.
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- 1 620 forskare och lärare i forskarvärlden: Vi ställer oss bakom Auroras klimatkrav
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| 2. |
- Edgren, M., et al.
(författare)
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High dose-rate brachytherapy of prostate cancer utilising Iridium-192 after-loading technique: technical and methodological aspects
- 2006
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Ingår i: Int J Oncol. - 1019-6439. ; 29:6, s. 1517-24
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to focus on certain characteristic problems associated with Iridium-192 high dose-rate brachytherapy (Ir-192 HDR-BT) in combination with external beam radiation therapy (EBRT) in the treatment of patients with localised prostate cancer. Over a period of 16 years, >2,000 patients with prostate cancer have been treated in Sweden with a combination of two fractions of 10 Gy Ir-192 HDR-BT and 50 Gy of fractionated EBRT. Although this treatment is usually well tolerated, there are biological and technical factors to be considered before and during the treatment of the patient to avoid side effects or under-treatment of the target volume. Some of the problems facing the doctors are transducer stability, needle deviation, target definition, target motion, pubic arch interference, concomitant diseases and tolerance doses for different organs at risk. These problems are discussed and possible solutions are presented in this study.
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| 3. |
- Hofmeister, Wolfgang, et al.
(författare)
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CTNND2-a candidate gene for reading problems and mild intellectual disability.
- 2015
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 52:2, s. 111-22
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Cytogenetically visible chromosomal translocations are highly informative as they can pinpoint strong effect genes even in complex genetic disorders.METHODS AND RESULTS: Here, we report a mother and daughter, both with borderline intelligence and learning problems within the dyslexia spectrum, and two apparently balanced reciprocal translocations: t(1;8)(p22;q24) and t(5;18)(p15;q11). By low coverage mate-pair whole-genome sequencing, we were able to pinpoint the genomic breakpoints to 2 kb intervals. By direct sequencing, we then located the chromosome 5p breakpoint to intron 9 of CTNND2. An additional case with a 163 kb microdeletion exclusively involving CTNND2 was identified with genome-wide array comparative genomic hybridisation. This microdeletion at 5p15.2 is also present in mosaic state in the patient's mother but absent from the healthy siblings. We then investigated the effect of CTNND2 polymorphisms on normal variability and identified a polymorphism (rs2561622) with significant effect on phonological ability and white matter volume in the left frontal lobe, close to cortical regions previously associated with phonological processing. Finally, given the potential role of CTNND2 in neuron motility, we used morpholino knockdown in zebrafish embryos to assess its effects on neuronal migration in vivo. Analysis of the zebrafish forebrain revealed a subpopulation of neurons misplaced between the diencephalon and telencephalon.CONCLUSIONS: Taken together, our human genetic and in vivo data suggest that defective migration of subpopulations of neuronal cells due to haploinsufficiency of CTNND2 contribute to the cognitive dysfunction in our patients.
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| 4. |
- Rising Holmström, Malin, lektor, 1966-, et al.
(författare)
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Nurses’ experiences of prehospital care encounters with children in pain
- 2019
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Ingår i: International Emergency Nursing. - : Elsevier BV. - 1755-599X .- 1878-013X. ; 43, s. 23-28
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Tidskriftsartikel (refereegranskat)abstract
- Background: Pain relief in children is a complex issue, partly an ethical dilemma and due to a lack of nursing competence. There are few studies regarding prehospital care encounters with children in pain. Aim: The aim of this study was to describe nurses’ experiences in prehospital care encounters with children in pain and the specific related challenges. Method: This study has a qualitative design. Eighteen Swedish nurses participated in three focus group interviews analysed using qualitative content analysis. Findings: The findings consist of a theme, “A challenge to shift focus and adjust to the child”, and three categories describing prehospital care encounters with children in pain: “Being receptive and focusing on care,” “Developing a trusting relationship,” and “Providing professional nursing care.” Caring for children in pain was stressful for the nurses. The nurses described how they had to shift focus and used different methods to build trust, such as playfulness, making eye contact, attracting curiosity, and using the parents to create trust. The also had to adjust to the child regarding dosages and materials. Conclusion: Nurses has to be practically, mentally, and theoretically prepared to care for children with prehospital pain. It is essential to evaluate the administration of adequate pain relief to children, and more evidence-based knowledge is necessary concerning the different modes of administering pain-relieving drugs to prehospital children.
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| 5. |
- Stattin, Eva-Lena, et al.
(författare)
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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease
- 2018
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Ingår i: American Journal of Medical Genetics. Part A. - : WILEY. - 1552-4825 .- 1552-4833. ; 176:6, s. 1405-1410
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Tidskriftsartikel (refereegranskat)abstract
- Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c.1163T > C, p.Leu388Pro, NM_004826) and MUSK (c.2572C > T, p.Arg858Cys, NM_005592). Both variants are predicted to have deleterious effects on the protein function, with amino acid positions highly conserved among species. The variants segregated in the family, with healthy mother, father, and sister being heterozygous carriers and the index patient being homozygous for both mutations. We report on a unique patient with a novel ECEL1 homozygous mutation, expanding the phenotypic spectrum of Distal AMC Type 5D to include vertical linear skin creases. The homozygous mutation in MUSK is of unknown clinical significance. MUSK mutations have previously shown to cause congenital myasthenic syndrome, a neuromuscular disorder with defects in the neuromuscular junction.
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