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| 2. |
- Estrada, Karol, et al.
(författare)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Tidskriftsartikel (refereegranskat)abstract
- Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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| 3. |
- Liu, Ching-Ti, et al.
(författare)
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Assessment of gene-by-sex interaction effect on bone mineral density
- 2012
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 1523-4681 .- 0884-0431. ; 27:10, s. 2051-2064
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Tidskriftsartikel (refereegranskat)abstract
- Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?
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| 4. |
- Babaei, Mahsa, et al.
(författare)
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Metabolic Engineering of Saccharomyces cerevisiae for Rosmarinic Acid Production
- 2020
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Ingår i: ACS Synthetic Biology. - : American Chemical Society (ACS). - 2161-5063. ; 9:8, s. 1978-1988
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Tidskriftsartikel (refereegranskat)abstract
- Rosmarinic acid is a hydroxycinnamic acid ester commonly found in the Boraginaceae and Lamiaceae plant families. It exhibits various biological activities, including antioxidant, anti-inflammatory, antibacterial, antiallergic, and antiviral properties. Rosmarinic acid is used as a food and cosmetic ingredient, and several pharmaceutical applications have been suggested as well. Rosmarinic acid is currently produced by extraction from plants or chemical synthesis; however, due to limited availability of the plant sources and the complexity of the chemical synthesis method, there is an increasing interest in producing this compound by microbial fermentation. In this study, we aimed to produce rosmarinic acid by engineered baker's yeast Saccharomyces cerevisiae. Multiple biosynthetic pathway variants, carrying only plant genes or a combination of plant and Escherichia coli genes, were implemented using a full factorial design of experiment. Through analysis of variances, the effect of each enzyme variant (factors), together with possible interactions between these factors, was assessed. The best pathway variant produced 2.95 ± 0.08 mg/L rosmarinic acid in mineral medium with glucose as the sole carbon source. Increasing the copy number of rosmarinic acid biosynthetic genes increased the titer to 5.93 ± 0.06 mg/L. The study shows the feasibility of producing rosmarinic acid by yeast fermentation.
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| 5. |
- Bjerre, I. M., et al.
(författare)
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Measure of Processes of Care (MPOC) applied to measure parent's perception of the habilitation process in Sweden.
- 2004
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Ingår i: Child: Care Health and Development. - : Wiley. - 1365-2214 .- 0305-1862. ; 30:2, s. 123-130
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Tidskriftsartikel (refereegranskat)abstract
- Aim To evaluate the instrument Measure of Processes of Care (MPOC) in a Swedish context. Methods The MPOC consists of 56 questions in the five scales: enabling and partnership; providing general information; providing specific information about the child; co-ordinated and comprehensive care; and respectful and supportive care. The questionnaire was translated into Swedish and distributed to 850 families, served by four habilitation centres. After two reminders, a response rate of 74.9% was obtained, and about 60% of the questionnaires qualified for further statistical analysis. Reliability, calculated as Cronbach's alpha, was high for four of the five scales and acceptable for the fifth (scale no. 3). Results Significant differences were shown between centres as well as between age groups. These differences were reasonable as judged through background knowledge, indicating that the instrument was able to discriminate between actual differences in services. Commenting on the practical use of the questionaire, staff, as well as responding parents, found the questionnaire rather long and some parents reported difficulties in giving answers as specific as the questionnaire asked them to. Conclusion The MPOC shows sufficient sensitivity to be used as an evaluation tool for services at a centre or program level, and can be recommended for research and practical use.
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| 6. |
- Bjerre, I, et al.
(författare)
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Monitoring of cerebral function after severe asphyxia in infancy
- 1983
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Ingår i: Archives of Disease in Childhood. - 1468-2044. ; 58:12, s. 997-1002
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Tidskriftsartikel (refereegranskat)abstract
- Thirty nine infants with severe asphyxia (28 affected perinatally and 11 later) were studied by electrophysiological cerebral function monitoring (CFM) for periods varying from a half to 49 days. Nineteen infants died while still in intensive care and two died later from sequelae. Eighteen survived and were followed up when aged between 8 and 36 months. The initial electroencephalogram (EEG) and the first 12 hours of CFM tracing correlated well. The type of background activity, whether continuous or interrupted, proved to be of high prognostic importance unlike the presence of seizure activity, which bore no distinct correlation to outcome in these severely asphyxiated infants.
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| 7. |
- Ley, D, et al.
(författare)
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Abnormal fetal aortic velocity waveform and intellectual function at 7 years of age
- 1996
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - : Wiley. - 0960-7692. ; 8:3, s. 5-160
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Tidskriftsartikel (refereegranskat)abstract
- Measurements of fetal aortic blood flow velocity and fetal growth were performed in 178 pregnancies. In 87 cases, the estimated fetal weight was > 2 SD below the gestational age-related mean of the population. Three fetuses died in utero. In 148 children (84%) an assessment of overall intellectual ability was performed at 6.5 years of age. Verbal and global IQ was lower in the group with an abnormal fetal aortic blood flow velocity waveform (mean +/- SD 96.0 +/- 17.7 and 95.9 +/- 15.7, respectively; n = 41) compared to the group with a normal waveform (102.1 +/- 12.2 and 102.9 +/- 13.2, respectively; n = 105; p < 0.05). Logistic regression analysis revealed that abnormal fetal aortic velocity waveform, both independently and in combination with other factors, was a significant predictor of impaired intellectual outcome. The association found between abnormal fetal aortic velocity waveform and impaired intellectual outcome suggests that hemodynamic evaluation of the fetus has a predictive value regarding postnatal intellectual development.
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| 8. |
- Ley, D, et al.
(författare)
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Abnormal fetal aortic velocity waveform and minor neurological dysfunction at 7 years of age
- 1996
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Ingår i: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. - : Wiley. - 0960-7692. ; 8:3, s. 9-152
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Tidskriftsartikel (refereegranskat)abstract
- Measurements of fetal aortic blood flow velocity and fetal growth were performed in 178 pregnancies. In 87 cases, the estimated fetal weight was > or = 2 SD below the gestational age-related mean of the population. Three fetuses died in utero. In 149 children (85%), a neurological examination was performed at 7 years of age with special emphasis on minor neurological dysfunction. The frequency of the more severe form of minor neurological dysfunction, MND-2, was higher in the group with blood flow class (BFC) III (absent or reversed end-diastolic flow velocity (8/21) than in the group with BFC 0 (normal velocity waveform) (14/105). Logistic regression analysis revealed that abnormal blood flow class, both independently and in combination with other factors, was the most significant predictor of MND-2. The association found between abnormal fetal aortic velocity waveforms and adverse outcome in terms of minor neurological dysfunction suggests that hemodynamic evaluation of the fetus has a predictive value regarding postnatal neurological development.
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| 9. |
- Priebe, S, et al.
(författare)
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Good practice in emergency care: views from practitioners :
- 2011
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Ingår i: Migration and Health in the European Union. - : Open University Press. - 9780335245673
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Bokkapitel (refereegranskat)abstract
- Migrants make up a growing share of European populations. However, all too often their situation is compounded by problems with accessing health and other basic services. There is a need for tailored health policies, but robust data on the health needs of migrants and how best these needs can be met are scarce.Written by a collaboration of authors from three key international organisations (the European Observatory on Health Systems and Policies, the EUPHA Section on Migrant and Ethnic Minority Health, and the International Organization for Migration), as well as leading researchers from across Europe, the book thoroughly explores the different aspects of migration and health in the EU and how they can be addressed by health systems.Structured into five easy-to-follow sections, the volume includes:Contributions from experts from across EuropeKey topics such as: access to human rights and health care; health issues faced by migrants; and the national and European policy response so farConclusions drawn from the latest available evidenceComprehensive information on different aspects of health and migration and how they can best be addressed by health systems is still not easy to find. This book addresses this shortfall and will be of major value to researchers, students, policy-makers and practitioners concerned with migration and health in an increasingly diverse Europe.
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| 10. |
- Schild, R., et al.
(författare)
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Disparities in treatment and outcome of kidney replacement therapy in children with comorbidities: an ESPN/ERA Registry study
- 2023
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Ingår i: Clinical Kidney Journal. - : Oxford University Press (OUP). - 2048-8505 .- 2048-8513. ; 16:4, s. 745-755
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Tidskriftsartikel (refereegranskat)abstract
- Background Data on comorbidities in children on kidney replacement therapy (KRT) are scarce. Considering their high relevance for prognosis and treatment, this study aims to analyse the prevalence and implications of comorbidities in European children on KRT. Methods We included data from patients <20 years of age when commencing KRT from 2007 to 2017 from 22 European countries within the European Society of Paediatric Nephrology/European Renal Association Registry. Differences between patients with and without comorbidities in access to kidney transplantation (KT) and patient and graft survival were estimated using Cox regression. Results Comorbidities were present in 33% of the 4127 children commencing KRT and the prevalence has steadily increased by 5% annually since 2007. Comorbidities were most frequent in high-income countries (43% versus 24% in low-income countries and 33% in middle-income countries). Patients with comorbidities had a lower access to transplantation {adjusted hazard ratio [aHR] 0.67 [95% confidence interval (CI) 0.61-0.74]} and a higher risk of death [aHR 1.79 (95% CI 1.38-2.32)]. The increased mortality was only seen in dialysis patients [aHR 1.60 (95% CI 1.21-2.13)], and not after KT. For both outcomes, the impact of comorbidities was stronger in low-income countries. Graft survival was not affected by the presence of comorbidities [aHR for 5-year graft failure 1.18 (95% CI 0.84-1.65)]. Conclusions Comorbidities have become more frequent in children on KRT and reduce their access to transplantation and survival, especially when remaining on dialysis. KT should be considered as an option in all paediatric KRT patients and efforts should be made to identify modifiable barriers to KT for children with comorbidities. Lay Summary Kidney transplantation (KT) is considered the optimal treatment for children who suffer from permanent kidney failure, because it leads to a lower mortality and higher quality of life compared with dialysis. Children on dialysis frequently suffer from diseases of other organs (comorbidities) that can directly lower their life expectancy and could potentially represent a barrier for transplantation, posing an additional disease burden for these children. In this study we looked at data from a large multinational registry for children with kidney failure who require kidney replacement. Using these data, we studied whether these children suffered from comorbidities and whether these impact their life expectancy or their access to KT. We found that more and more children with kidney failure suffer from comorbidities when starting kidney replacement therapy. We also found that these children have a lower access to KT and a higher mortality on dialysis compared with children without comorbidities, especially in low-income countries. After KT, children with comorbidities have a similar mortality and graft survival compared with children without comorbidities. We concluded that reduced access to a kidney transplant might represent a modifiable barrier to KT in children with comorbidities, especially in low-resource countries. We suggest that children with comorbidities in need for kidney replacement therapy should be rapidly evaluated for eligibility for KT.
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