| 1. |
- Hagleitner, M M, et al.
(författare)
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
- 2008
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 93-9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No genotype-phenotype correlation was found between patients with and without DNMT3B mutations.
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| 2. |
- Hawton, K, et al.
(författare)
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Relation between attempted suicide and suicide rates among young people in Europe.
- 1998
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Ingår i: Journal of Epidemiology and Community Health. - : BMJ. - 0143-005X .- 1470-2738. ; 52:3, s. 191-4
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Tidskriftsartikel (refereegranskat)abstract
- Rates of attempted suicide and suicide in the young covary. The recent increase in attempted suicide rates in young male subjects in several European countries could herald a further increase in suicide rates.
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| 3. |
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| 4. |
- Eliassen, A Heather, et al.
(författare)
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Circulating carotenoids and risk of breast cancer: pooled analysis of eight prospective studies.
- 2012
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 104:24, s. 1905-16
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Tidskriftsartikel (refereegranskat)abstract
- Background Carotenoids, micronutrients in fruits and vegetables, may reduce breast cancer risk. Most, but not all, past studies of circulating carotenoids and breast cancer have found an inverse association with at least one carotenoid, although the specific carotenoid has varied across studies. Methods We conducted a pooled analysis of eight cohort studies comprising more than 80% of the world's published prospective data on plasma or serum carotenoids and breast cancer, including 3055 case subjects and 3956 matched control subjects. To account for laboratory differences and examine population differences across studies, we recalibrated participant carotenoid levels to a common standard by reassaying 20 plasma or serum samples from each cohort together at the same laboratory. Using conditional logistic regression, adjusting for several breast cancer risk factors, we calculated relative risks (RRs) and 95% confidence intervals (CIs) using quintiles defined among the control subjects from all studies. All P values are two-sided. Results Statistically significant inverse associations with breast cancer were observed for α-carotene (top vs bottom quintile RR = 0.87, 95% CI = 0.71 to 1.05, Ptrend = .04), β-carotene (RR = 0.83, 95% CI = 0.70 to 0.98, Ptrend = .02), lutein+zeaxanthin (RR = 0.84, 95% CI = 0.70 to 1.01, Ptrend = .05), lycopene (RR = 0.78, 95% CI = 0.62 to 0.99, Ptrend = .02), and total carotenoids (RR = 0.81, 95% CI = 0.68 to 0.96, Ptrend = .01). β-Cryptoxanthin was not statistically significantly associated with risk. Tests for heterogeneity across studies were not statistically significant. For several carotenoids, associations appeared stronger for estrogen receptor negative (ER(-)) than for ER(+) tumors (eg, β-carotene: ER(-): top vs bottom quintile RR = 0.52, 95% CI = 0.36 to 0.77, Ptrend = .001; ER(+): RR = 0.83, 95% CI = 0.66 to 1.04, Ptrend = .06; Pheterogeneity = .01). Conclusions This comprehensive prospective analysis suggests women with higher circulating levels of α-carotene, β-carotene, lutein+zeaxanthin, lycopene, and total carotenoids may be at reduced risk of breast cancer.
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| 5. |
- Hultén, A, et al.
(författare)
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Recommended care for young people (15-19 years) after suicide attempts in certain European countries.
- 2000
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Ingår i: European Child and Adolescent Psychiatry. - 1018-8827 .- 1435-165X. ; 9:2, s. 100-8
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Tidskriftsartikel (refereegranskat)abstract
- Data on recommended care for young people aged 15-19 years after attempted suicide from nine European research centres during the period 1989-1992 were analysed in terms of gender, history of previous suicide attempt and methods used. Altogether 438 suicide attempts made by 353 boys and 1,102 suicide attempts made by 941 girls were included. Analyses of the total data from all centres showed that young people with a history of previous suicide attempt and those using violent methods had significantly higher chance of being recommended aftercare than first-time attempters or those choosing self-poisoning. There were no significant differences of being recommended care between genders. Logistic regression analyses of the material were performed and the results were similar. Both having previous attempted suicide (odds ratio 2.0, 95% CI 1.53-2.61) and using "hard" methods (odds ratio 1.71, 95% CI 1.49-1.96) were significantly associated with increased possibility of being recommended aftercare. When individual centres were analysed, large disparities of recommended care after suicide attempts were found and there were no uniform criteria of recommending care for young suicide attempters in Europe.
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| 6. |
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| 7. |
- Björkman, G., et al.
(författare)
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Att genomföra och avrapportera projektarbetsuppgifter på delkurs PK:1
- 1977
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Detta är en rapport om hur man bedriver och avrapporterar projektarbete på kurs PK:1 i informationsbehandling. Rapporten beskriver de olika momenten i projektarbetet och innehåller dessutom regler och anvisningar för detta arbete. Rapporten försöker även förmedla tips och erfarenheter från tidigare terminer beträffande kurs PK:1
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| 8. |
- A Hulten, Maj, et al.
(författare)
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On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model
- 2010
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Ingår i: Reproduction. - 1470-1626 .- 1476-3990. ; 139:1, s. 1-9
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Forskningsöversikt (refereegranskat)abstract
- We have recently documented that trisomy 21 mosaicism is common in human foetal ovaries. On the basis of this observation we propose that the maternal age effect in Down syndrome (DS) is caused by the differential behaviour of trisomy 21 in relation to disomy 21 oocytes during development from foetal life until ovulation in adulthood. in particular, we suggest that trisomy 21 oocytes, lagging behind those that are disomic, may escape the timed pruning of the seven million in foetal life to the 300-400 finally selected for ovulation. The net effect of this preferential elimination will be an accumulation of trisomy 21 oocytes in the ovarian reserve of older women. We here highlight the implications of this Oocyte Mosaicism Selection (OMS) model with respect to the prevalent view that the maternal age effect is complex, dependent on many different biological and environmental factors. We examine conclusions drawn from recent large-scale studies in families, tracing DNA markers along the length of chromosome 21q between parents and DS children, in comparison to the OMS model. We conclude that these family linkage data are equally compatible with the maternal age effect originating from the accumulation of trisomy 21 oocytes with advancing maternal age. One relatively straightforward way to get to grips with what is actually going on in this regard would be to compare incidence of trisomy 21 oocytes (and their pairing configurations) in foetal ovaries with that in oocytes at the meiosis I stage from adult women.
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| 9. |
- Ahlberg-Hultén, Gunnel, 1952-
(författare)
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Psychological Demands and Decision Latitude Within Health Care Work : Relation to Health and Significance
- 1999
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The general aim of this thesis is to provide a scientific evaluation of the psychosocial work environment for health care personnel. The theoretical basis is the demand-control model developed by Karasek and Theorell. The model consists of the dimensions psychological demands and decision latitude, the latter is a combination of intellectual discretion and authority over decision.The results in study I indicated that there are strong relationships between job strain, high psychological demands and low decision latitude, and blood pressure during work among health care personnel. In study II, symptoms from the low back were associated with all three dimensions psychological demands, skill discretion and decision authority while symptoms from the neck were related to lack of work support. The results in study III indicated that the combination of somatic and psychiatric care could be associated with higher levels of job strain and psychological symptoms.Study IV showed that substantial changes in working conditions had been frequent in the public sector during the period 1988-1996 and that registered nurses and nurse assistants had very different developments. Registered nurses had got a more intense work environment with increased skill utilization but also increased hindrances to perform work. Nurse assistants on the other hand had experienced decreased skill utilization. Temporary employment and part time work, common among health care personnel with low education, were the factors that explained the greatest part of deterioration of skill utilization and possibility to take part in planning of work. These different trends may negatively influence social climate as these two occupational groups often work together.Study V is a qualitative validation of the demand-control model. The findings showed that the model is equally relevant for women as for men and also relevant for health care personnel. Compared to occupational groups working with either "things" or "symbols" health care personnel experienced higher levels of psychological demands and lower levels of decision latitude.It is concluded that the demand-control scale is relevant for use in studies of psychosocial work environment in health care, possibly supplemented with the effort-reward scale. In order to reach a more solid understanding of the psychosocial work environment, questionnaire data should be combined with qualitatively analyzed interviews. The indications of a deteriorated psychosocial work environment for health care personnel in this and other studies calls for radical changes that promote less psychological demands and more decision latitude within this occupational sector.
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