| 61. |
- Hultling, C, et al.
(författare)
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Semen retrieval and analysis in men with myelomeningocele.
- 2000
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Ingår i: Developmental Medicine & Child Neurology. - : Wiley-Blackwell. - 0012-1622 .- 1469-8749. ; 42:10, s. 681-684
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Tidskriftsartikel (refereegranskat)abstract
- The introduction of advanced assisted reproduction technologies (ART) has created opportunities for the treatment of infertility among patients with myelomeningocele (MMC). The aim of this study was to assess the possibility of semen retrieval and to analyse the semen quality in men with MMC. Nine men, aged 22 to 39 with MMC participated in the study. Two participants were able to achieve unassisted ejaculation. Vibratory stimulation was unsuccessfully attempted in the remaining seven participants who then underwent electroejaculation under general anaesthesia. In total, enough spermatozoa for intracytoplasmic spermatozoa injection were retrieved from five participants. In four cases, no spermatozoa were observed in the ejaculates. Testicular biopsies, however, revealed spermatogenesis, and thus a reproductive potential, in one of these men. Therefore, in six of the nine men with MMC, fatherhood seemed possible with modern ART, despite the semen quality generally being very poor.
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| 62. |
- Jonasson, Jenni, et al.
(författare)
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Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
- 2000
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 8, s. 918-
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Tidskriftsartikel (refereegranskat)abstract
- Spinocerebellar ataxia type 7 (SCA7) is a neuro-degenerative disorder characterised by progressive cerebellar ataxia and macular degeneration. SCA7 is one of the least common genetically verified autosomal dominant cerebellar ataxias (ADCAs) in the world (4.5 to 11.6%), but in Sweden and Finland SCA7 is the most commonly identified form of ADCA. In an inventory of hereditary ataxias in Scandinavia (Sweden, Norway, Denmark and Finland) we identified 15 SCA7 families, eight in Sweden and seven in Finland, while no cases of SCA7 could be found in Norway or Denmark. We examined whether the relatively high frequency of SCA7 families in Sweden and Finland was the result of a common founder effect. Only two out of 15 families could be connected genealogically. However, an extensive haplotype analysis over a 10.2 cM region surrounding the SCAI gene locus showed that all 15 families studied shared a common haplotype over at least 1.9 cM. This strongly suggests that all Scandinavian SCA7 families originate from a common founder pre-mutation.
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| 63. |
- Knutsson, Anders, et al.
(författare)
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Shift workers' mortality scrutinized.
- 2004
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Ingår i: Chronobiol Int. - 0742-0528 .- 1525-6073. ; 21:6, s. 1049-53
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Tidskriftsartikel (refereegranskat)
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| 64. |
- Lampic, Claudia, et al.
(författare)
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Attainment and importance of life values among patients with primary breast cancer
- 2003
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Ingår i: Cancer Nursing. - : Lippincott Williams & Wilkins. - 0162-220X .- 1538-9804. ; 26, s. 295-
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Tidskriftsartikel (refereegranskat)abstract
- The main aims of this study were to investigate the extent to which women with recently diagnosed primary breast cancer (N = 29) and matched control subjects without cancer (N = 29) differ in perceived attainment and importance of life values and to study prospectively life value ratings during 1 year in a large group of recent attendees at mammography screening (N = 706). Life values were assessed by a study-specific version of a life value questionnaire, including ratings of the perceived attainment and importance of seven life value dimensions. Women with a recent diagnosis of primary breast cancer were found to attribute significantly more importance to positive relations than healthy controls. No other differences between these groups were found regarding the attainment or importance of life values. Perceptions of life values were found to vary as a function of age, marital or cohabitation status, and parenthood, and to be stable over a 9-month period in screening attendees. The implications of the current findings for the understanding of women's psychological adaptation to breast cancer are discussed.
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| 65. |
- Lampic, Claudia, et al.
(författare)
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Life values before versus after a breast cancer diagnosis
- 2002
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Ingår i: Research in Nursing & Health. - : John Wiley & Sons. - 0160-6891 .- 1098-240X. ; 25, s. 89-
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Tidskriftsartikel (refereegranskat)abstract
- The main aim of this study was to investigate whether women's life values change with a breast cancer diagnosis. In addition, associations between life values and anxiety/depression ratings were investigated. Life value changes were prospectively studied in 517 women recalled for further examination after attending mammographic screening, 38 of whom were diagnosed with primary breast cancer. Life values were assessed by a study-specific version of a life value questionnaire, including ratings of the perceived attainment and importance of seven life value dimensions. Three months after being recalled, women diagnosed with primary breast cancer reported a reduction of the attainment and the importance of Health. In addition, these women reported changes in the perceived importance of Responsibility and Involvement. High levels of anxiety and depression in particular were associated with large discrepancies between attainment and importance for some life values. This suggests that changes in the perceived importance of some life values may constitute one part of women's psychological adaptation to a breast cancer diagnosis.
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| 66. |
- Larsson-Lund, Maria, et al.
(författare)
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Incorporating or resisting assistive devices : Different approaches to achieving a desired occupational self-image
- 2003
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Ingår i: OTJR (Thorofare, N.J.). - : SAGE Publications. - 1539-4492 .- 1938-2383. ; 23:2, s. 67-75
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to enhance the understanding of how people with disabilities experience the meaning of their assistive devices in their occupations and how they act on their experiences. Seventeen participants were interviewed and data were analyzed using a qualitative approach. The participants' experiences showed that they reacted differently to the manifold and often contradictory meaning of assistive devices. The analysts organized the participants' reactions into three categories: pragmatic users, ambivalent users, and reluctant users. The differences between the participants were understood as representing different adaptive approaches to achieve desired occupational self-images. Thus, the assistive devices were not in themselves important, but were merely a means to achieve a desired self-image. The findings reflect that the participants' experiences of using assistive devices reveal meanings about their use that go beyond the traditional medical perspective that focuses on the role of assistive devices as compensation for physical impairment
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| 67. |
- Larsson-Lund, Maria, et al.
(författare)
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Occupational life in the home environment : the experiences of people with disabilities
- 2004
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Ingår i: Canadian Journal of Occupational Therapy / Revue Canadienne d`Ergotèrapie. - : SAGE Publications. - 0008-4174. ; 71:4, s. 243-251
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: There is a need to empirically explore the occupational engagement of people with disabilities to support the development of occupational therapy interventions. PURPOSE: This study describes how people with disabilities experience their occupational lives in their home environment. METHOD: Thirteen people with physical disabilities living at home were interviewed and data were subsequently analysed using a constant comparative method. RESULTS: The findings showed that interactions between the individuals and their environment influenced their experiences of engaging in occupations and the meaning of their home. Occupations formed three categories: always performed with others, occasionally disrupted or deprived. These were particularly related to the social support that was provided under different conditions. This condition formed a central category: access to social support for occupations. Their experiences of performing occupations in the home also formed another central category: transformed meaning of the home. PRACTICE IMPLICATIONS: By understanding enabling conditions as well as barriers to occupational engagement, effective occupational therapy interventions can be developed to support the occupational lives of people with disabilities
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| 68. |
- Lindberg, Mikael J., et al.
(författare)
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Folding of human superoxide dismutase : Disulfide reduction prevents dimerization and produces marginally stable monomers
- 2004
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : The National Academy of Sciences of the USA. - 0027-8424 .- 1091-6490. ; 101:45, s. 15893-15898
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Tidskriftsartikel (refereegranskat)abstract
- The molecular mechanism by which the homodimeric enzyme Cu/Zn superoxide dismutase (SOD) causes neural damage in amytrophic lateral sclerosis is yet poorly understood. A striking, as well as an unusual, feature of SOD is that it maintains intrasubunit disulfide bonds in the reducing environment of the cytosol. Here, we investigate the role of these disulfide bonds in folding and assembly of the SOD apo protein (apoSOD) homodimer through extensive protein engineering. The results show that apoSOD folds in a simple three-state process by means of two kinetic barriers: 2D⇌2M⇌M2. The early predominant barrier represents folding of the monomers (M), and the late barrier the assembly of the dimer (M2). Unique for this mechanism is a dependence of protein concentration on the unfolding rate constant under physiological conditions, which disappears above 6 M Urea where the transition state for unfolding shifts to first-order dissociation of the dimer in accordance with Hammond-postulate behavior. Although reduction of the intrasubunit disulfide bond C57–C146 is not critical for folding of the apoSOD monomer, it has a pronounced effect on its stability and abolishes subsequent dimerization. Thus, impaired ability to form, or retain, the C57–C146 bond in vivo is predicted to increase the cellular load of marginally stable apoSOD monomers, which may have implications for the amytrophic lateral sclerosis neuropathology.
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| 69. |
- Lindmark, F, et al.
(författare)
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H6D polymorphism in macrophage-inhibitory cytokine-1 gene associated with prostate cancer
- 2004
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Ingår i: Journal of the National Cancer Institute. - Umea Univ, Dept Radiat Sci Oncol, S-90187 Umea, Sweden. Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. Umea Univ Hosp, Dept Urol & Androl, S-90185 Umea, Sweden. Wake Forest Univ, Sch Med, Ctr Human Genomics, Winston Salem, NC 27109 USA. Johns Hopkins Med Inst, Dept Urol, Baltimore, MD 21205 USA. : OXFORD UNIV PRESS INC. - 0027-8874 .- 1460-2105. ; 96:16, s. 1248-1254
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Tidskriftsartikel (refereegranskat)abstract
- Background: Accumulating epidemiologic and molecular evidence suggest that inflammation is an important component in the etiology of prostate cancer. Macrophage-inhibitory cytokine-1 (MIC-1), a member of the transforming growth factor beta superfamily, is thought to play an important role in inflammation by regulating macrophage activity. We examined whether sequence variants in the MIC-1 gene are associated with the risk of prostate cancer. Methods: The study population, a population-based case-control study in Sweden, consisted of 1383 prostate cancer case patients and 780 control subjects. From 94 of the control subjects, we constructed gene-specific haplotypes of MIC-1 and identified four haplotype-tagging single-nucleotide polymorphisms (SNPs): Exon1+25 (V9L), Exon1+142 (S48T), IVS1+1809, and Exon2+2423 (H6D). All study subjects were genotyped for the four SNPs, and conditional logistic regression analysis was used to estimate odds ratios (ORs) with 95% confidence intervals (CIs). Results: A statistically significant difference (P = .006) in genotype frequency was observed for the nonsynonymous change H6D) (histidine to aspartic acid at position 6) between prostate cancer patients and control subjects. Carriers of the GC genotype, which results in the H6D change, experienced a lower risk of sporadic prostate cancer (OR = 0.80, 95% CI = 0.66 to 0.97) and of familial prostate cancer (OR = 0.61, 95% CI = 0.42 to 0.89) than the CC genotype carriers. In the study population, the proportion of prostate cancer cases attributable to the CC genotype was 7.2% for sporadic cancer and 19.2% for familial cancer. None of the other SNPs or haplotypes was associated with prostate cancer. Conclusion: This study shows an association between a nonsynonymous change (H6D) in the MIC-1 gene and prostate cancer. This finding supports the hypothesis that genetic variation in the inflammatory process contributes to prostate cancer susceptibility.
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| 70. |
- Lundbäck, Bo, et al.
(författare)
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Not 15 But 50% of smokers develop COPD?—Report from the Obstructive Lung Disease in Northern Sweden Studies
- 2003
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 0954-6111 .- 1532-3064. ; 97:2, s. 115-122
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Tidskriftsartikel (refereegranskat)abstract
- Background: The prevalence of chronic obstructive pulmonary disease (COPD) according to guidelines of today seems considerably higher than has been reported also in recent literature.Aim: To estimate the prevalence of COPD as defined by British Thoracic Society (BTS) criteria and the recent global initiative for chronic obstructive lung disease (GOLD) criteria. Further aims were to assess the proportion of underdiagnosis and of symptoms in subjects with COPD, and to study risk factors for COPD.Methods: In 1996, 5892 of the Obstructive Lung Disease in Northern Sweden (OLIN) Study's first cohort could be traced to a third follow-up survey, and 5189 completed responses (88%) were received corresponding to 79% of the original cohort from December 1985. Of the responders, a random sample of 1500 subjects were invited to a structured interview and a lung function test, and 1237 of the invited completed a lung function test with acceptable quality.Results: In ages >45 years, the prevalence of COPD according to the BTS guidelines was 8%, while it was 14% according to the GOLD criteria. The absolutely dominating risk factors were increasing age and smoking, and approximately a half of elderly smokers fulfilled the criteria for COPD according to both the BTS and the GOLD criteria. Family history of obstructive airway disease was also a risk factor, while gender was not. Of those fulfilling the BTS criteria for COPD, 94% were symptomatics, 69% had chronic productive cough, but only 31% had prior to the study been diagnosed as having either chronic bronchitis, emphysema, or COPD. The corresponding figures for COPD according GOLD were 88, 51, and 18%.Conclusions: In ages >45 years, the prevalence of COPD according to the BTS guidelines was 8%, and it was 14% according to the GOLD criteria. Fifty percent of elderly smokers had developed COPD. The large majority of subjects having COPD were symptomatic, while the proportion of those diagnosed as having COPD or similar diagnoses was small.
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