| 11. |
- Munthe, Christian, 1962
(författare)
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Genetic Treatment and Preselection. Ethical Similarities and Differences
- 1999
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Ingår i: Nordgren, A (ed.), Gene Therapy and Ethics, Studies in Bioethics and Research Ethics No. 4, Uppsala 1999: Acta Universitatis Upsaliensis. - Uppsala : Acta Universitatis Upsaliensis. - 915544640X ; , s. 159-173
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Medical genetic interventions can be performed in two ways. First, genetic defects may be repaired (gene therapy). Secondly, a possible future individual (an embryo or a possible combination of gametes) may be preselected because of its favourable genetic make-up (by using genetic diagnostic methods and procedures from reproductive medicine so called Preimplantation Genetic Diagnosis). The first kind of intervention means that someone gets medical treatment in the normal sense, however, the second kind does not. Rather, in that case, the potential patient is exchanged for another individual who is in no need of treatment. The paper explores to what extent arguments for and against these kinds of genetic intervention apply equally to all of them. For example, may the benefits that can be achieved through gene therapy be equally well achieved through genetic preselection? Are fears of a resurrection of eugenic practices through gene technology more warranted regarding therapeutic interventions than regarding preselective ones (or vice versa)? Since genetic preselection is an intervention at the germ-line level and is presently clinically applied: How is it possible to motivate that clinical application of germ-line gene therapy is not similarily permitted?
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| 12. |
- Munthe, Christian, 1962
(författare)
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ntroduktion av PGD i Sverige i etisk belysning
- 1997
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Ingår i: 1st Swedish National Workshop on Preimplantation Genetic Diagnosis, Sahlgrenska Universitetssjukhuset, Göteborg 1997..
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 13. |
- Torffvit, Ole, et al.
(författare)
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The association between diabetic nephropathy and autonomic nerve function in type 1 diabetic patients
- 1997
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Ingår i: Scandinavian Journal of Clinical & Laboratory Investigation. - 1502-7686. ; 57:2, s. 183-191
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Tidskriftsartikel (refereegranskat)abstract
- Diabetic cardiovascular autonomic neuropathy increases the risk of deterioration in renal function and is associated with increased mortality in patients with renal failure. Type 1 diabetic patients with long diabetes duration, matched for age (38 +/- 9 years) and diabetes duration (28 +/- 8 years) were studied regarding the association between cardiovascular autonomic nerve function and different degrees of diabetic nephropathy. Eighteen patients were normo- (< 30 mg/l), six micro- (30-300 mg/l), and 13 macroalbuminuric (> 300 mg/l) based on urinary albumin concentrations in three separate morning samples. They were compared with 33 control subjects with similar age. Autonomic nerve function was evaluated by measuring the response of heart rate to deep breathing and active standing. Beat-to-beat finger artery blood pressure (Finapres) was tested during active standing. During deep breathing both change in heart rate (17 +/- 11, 9 +/- 7 and 4 +/- 3 beats/min) and ratio between expiratory and inspiratory R-R intervals (1.32 +/- 0.24, 1.14 +/- 0.15 and 1.05 +/- 0.04) decreased from normo- over micro- to macroalbuminuria (p < 0.05 vs normoalbuminuric and control subjects [17 +/- 5 beats/min and 1.28 +/- 0.10, respectively]). Similar results were obtained during active standing with respect to change in systolic arterial blood pressure (3 +/- 8, 2 +/- 13 and -6 +/- 11 mmHg; p < 0.05 vs control subjects [8 +/- 11 mmHg]). However, the response of diastolic arterial blood pressure or mean heart rate to standing up did not differ between any of the groups. The ratio of maximum to minimum R-R interval during the dynamic response of heart rate to active standing decreased with the degree of nephropathy (1.27 +/- 0.17, 1.11 +/- 0.11 and 1.05 +/- 0.06) with significantly higher values in patients with normo- compared with patients with macroalbuminuria (p < 0.05). All patients groups had significantly lower values than control subjects (1.46 +/- 0.22, p < 0.05). The overshoot of the blood pressure after an initial fall during active standing decreased with the degree of diabetic nephropathy. In conclusion, type 1 diabetic patients with long duration of diabetes have signs of cardiovascular autonomic neuropathy, the severity of which is related to the degree of nephropathy.
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| 14. |
- Dahlin-Ivanoff, Synneve, 1950, et al.
(författare)
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Development of a health education programme for elderly with age-related macular degeneration: a focus group study.
- 1998
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Ingår i: Patient education and counseling. - 0738-3991. ; 34:1, s. 63-73
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Tidskriftsartikel (refereegranskat)abstract
- Age-related macular degeneration is a serious public health problem, and in most cases no cure exists. One available intervention is low vision rehabilitation, and there is a lack of programmes for the elderly. The purpose of this paper is to present the results of an evaluation of a group-based health education programme. This programme comprised six to eight 2-3 hour meetings, once a week, for persons with age-related macular degeneration. Each group consisted of four to six participants. The goal of the programme, which has its roots in the health belief model, was to sustain and restore the participants' performance of their daily activities. The tool used for process evaluation was focus group methodology, and eight focus groups were involved. Forty five persons, whose average age was 80 years, took part in the evaluation. The results indicated that the participants were, on the whole, pleased with the content of the programme. There were, however, some indications that they did not understand all the information provided. Social support, regained hope and meeting others with the same disease were reported as positive aspects of the health education programme. The importance of the group leader's role in guiding this health education programme was emphasised. Furthermore, with regard to the composition of the groups, the participants pointed out that it was important to consider variation in visual acuity, so as to provide different models for comparison, and whether both sexes should participate in all groups. Finally, several suggestions for improving the programme are put forward.
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| 15. |
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| 16. |
- Munthe, Christian, 1962
(författare)
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Ethical Aspects of Risk Decisions
- 1999
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Ingår i: Novakova (ed.), Amalgam and Health - New Perspectives on Risks. - Stockholm : Forskningsrådsnämnden. ; , s. 160-164
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 17. |
- Sidenvall, Birgitta, et al.
(författare)
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Elderly patients' meal patterns : A retrospective study
- 1996
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Ingår i: Journal of human nutrition and dietetics (Print). - 0952-3871 .- 1365-277X. ; 9:4, s. 263-272
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to examine possible causes of malnutrition in geriatric patients on admission to hospital by evaluation and comparison of their meal pattern between periods of working, retirement and hospitalization, respectively. Forty-five consecutive patients aged 60 years or older participated. By use of modified dietary history interviews, a retrospective assessment of food intake was carried out. A qualitative system for meal classification was then applied. In the retirement period there was a strong reduction in daily eating frequency when compared to working and hospital periods. Thus, the daily intake and also distribution of energy and nutrients seem to be reduced during retirement, which might lead to nutritional deficiency.
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| 18. |
- Mikkola, Hanna, et al.
(författare)
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Four novel mutations in deficiency of coagulation factor XIII: Consequences to expression and structure of the A-subunit
- 1996
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Ingår i: Blood. - 1528-0020. ; 87:1, s. 141-151
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Tidskriftsartikel (refereegranskat)abstract
- The characterization of naturally occurring mutations is one way to approach functionally significant domains of polypeptides. About 10 mutations have been reported in factor XIII (FXIII) A-subunit deficiency, but very little is known about the effects of the mutations on the expression or the structure of this enzyme. In this study, the recent crystallization of FXIII A-subunit and determination of the three-dimensional model were used for the first time to pursue the structural consequences of mutations in the A- subunit. The molecular analysis of four families from Sweden, Germany, and Denmark revealed four previously unreported point mutations. Three of the mutations were missense mutations, Arg326 → Gln, Arg252 → Ile, and Leu498 → Pro, and one was a nonsense mutation, a deletion of thymidine in codon for Phe8 resulting in early frameshift and premature termination of the polypeptide chain. In the case of the nonsense mutation, delT Phe8, the steady-state mRNA level of FXIII A-subunit was reduced, as quantitated by reverse transcriptase-polymerase chain reaction and solid-phase minisequencing. In contrast, none of the missense mutations affected mRNA levels, indicating the possible translation of the mutant polypeptides. However, by enzyme-linked immunosorbent analysis and immunofluorescence, all the patients demonstrated a complete lack of detectable factor XIIIA antigen in their platelets. In the structural analysis, we included the mutations described in this work and the Met242 → Thr mutation reported earlier by us. Interestingly, in the three-dimensional model, all four missense mutations are localized in the evolutionarily conserved catalytic core domain. The substitutions are at least 15 Å away from the catalytic cleft and do not affect any of the residues known to be directly involved in the enzymetic reaction. The structural analyses suggest that the mutations are most likely interfering with proper folding and stability of the protein, which is in agreement with the observed absence of detectable FXIIIA antigen. Arg326, Arg252, and Met242 are all buried within the molecule. The Arg326 → Gln and Arg252 → Ile mutations are substitutions of smaller, neutral amino acids for large, charged residues. They disrupt the electrostatic balance and hydrogen- bonding interactions in structurally significant areas. The Met242 → Thr mutation is located in the same region of the core domain as the Arg252 → Ile site and is expected to have a destabilizing effect due to an introduction of a smaller, polar residue in a tightly packed hydrophobic pocket. The substitution of proline for Leu498 is predicted to cause unfavorable interatomic contacts and a disruption of the alpha-helix mainchain hydrogen-bonding pattern; it is likely to form a kink in the helix next to the dimer interface and is expected to impair proper dimerization of the A-subunits. In the case of all four missense mutations studied, the knowledge achieved from the three-dimensional model of crystallized FXIII A- subunit provides essential information about the structural significance of the specific residues and aids in understanding the biologic consequences of the mutations observed at the cellular level.
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| 19. |
- White Sjölander, Peta, 1961-
(författare)
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A study of the effects of vocal intensity variation on children’s voices using long-term average spectrum (LTAS) analysis
- 1998
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Ingår i: Logopedics, Phoniatrics, Vocology. - : Informa UK Limited. - 1401-5439 .- 1651-2022. ; 23:3, s. 111-120
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Tidskriftsartikel (refereegranskat)abstract
- Studies of adult voices have shown that, as vocal intensity is increased, the partials at higher frequencies gain more than those at lower frequencies. Investigations involving children's normal productions are uncommon, however, and there is, consequently, little knowledge of how children's vocal function differs from that of adults. Using LTAS analysis, this study investigates the effects of vocal intensity variation on the voices of 10-year-old schoolchildren singing in soft, mid and loud voice. A frequency-dependent gain factor was calculated which showed the increase in level to have been greater for partials at higher than at lower frequencies for these children. Also, gain within frequency bands was often different between boys and girls, although this was not demonstrated statistically.
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| 20. |
- Ekström, Ulf, et al.
(författare)
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Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response
- 1998
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Ingår i: European Journal of Clinical Investigation. - : Wiley. - 0014-2972. ; 28:9, s. 740-747
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Familial hypercholesterolaemia, an autosomal co-dominant disorder caused by defects in the low-density lipoprotein receptor gene, is strongly associated with premature development of cardiovascular disease. METHODS: In this study, we have applied a gene screening method in a population of familial hypercholesterolaemia patients in order to describe the genetic background of the disease in southern Sweden. These patients were studied with the aim of relating the presence of the different mutations to the clinical expression of the disease and to the response to pharmacological treatment. RESULTS: In 16 out of 21 patients, potentially disease-causing low-density lipoprotein receptor gene defects were found, including five not previously described alterations (C240-->F, C122-->stop, C356-->Y, 785insG, 165delG). No defects in apolipoprotein B were found. One group of patients (n = 4) carried the mutation C122-->stop and another group of patients (n = 4) a mutation causing the substitution W66-->G. Patients in the two genotype subgroups were very similar with respect to lipid levels before treatment. CONCLUSION: A tendency towards differential susceptibility to treatment with statins was observed for the patient groups, encouraging further comparative studies of heterozygous FH patients.
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