| 1. |
- Speliotes, Elizabeth K., et al.
(author)
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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
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Journal article (peer-reviewed)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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| 2. |
- Bodin, Charlotte Rosenkrantz, et al.
(author)
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Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden
- 2018
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In: BioMed Research International. - : Hindawi Limited. - 2314-6133 .- 2314-6141. ; 2018
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Journal article (peer-reviewed)abstract
- Objectives. The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods. Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases-(ICD-) 10 codes for pre-or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register. Livebirth data with myelomeningocele (MMC) in Sweden were obtained from different databases. Results. There were 234 cases with SB in DK in 2008-2015. The incidence of SB was 4.9: 10,000; 89% were detected with ultrasound prior to week 22; 90% of these pregnancies were terminated (ToP); 91% were isolated malformations of which 11% showed abnormal karyotype. The incidence of newborns with MMC was 1.3: 10,000 in Sweden. Conclusions. Ultrasound screening has a major impact on the epidemiology of SB. The prenatal detection rate of SB was high, and most SB cases were isolated and had a normal karyotype. Among women with a prenatal fetal diagnosis of SB, 90% chose to have ToP. The incidence of newborns with SB was higher in Sweden than in DK.
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| 3. |
- Broge, Nils Lau Nyborg, et al.
(author)
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Exploration of anion effects in solvothermal synthesis using in situ X-ray diffraction
- 2024
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In: Physical Chemistry Chemical Physics. - 1463-9076. ; 26:15, s. 12121-12132
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Journal article (peer-reviewed)abstract
- Solvothermal synthesis presents a facile and highly flexible approach to chemical processing and it is widely used for preparation of micro- and nanosized inorganic materials. The large number of synthesis parameters in combination with the richness of inorganic chemistry means that it is difficult to predict or design synthesis outcomes, and it is demanding to uncover the effect of different parameters due to the sealed and complex nature of solvothermal reactors along with the time demands related to reactor cleaning, sample purification, and characterization. This study explores the effect on formation of crystalline products of six common anions in solvothermal treatment of aqueous and ethanolic precursors. Three different cations are included in the study (Mn2+, Co2+, Cu2+) representing chemical affinities towards different regions of the periodic table with respect to the hard soft acid base (HSAB) classification and the Goldschmidt classification. They additionally belong to the commonly used 3d transition metals and display a suitable variety in solvothermal chemistry to highlight anion effects. The results of the solvothermal in situ experiments demonstrate a clear effect of the precursor anions, with respect to whether crystallization occurs or not and the characteristics of the formed phases. Additionally, some of the anions are shown to be redox active and to influence the formation temperature of certain phases which in turn relates to the observed average crystallite sizes.
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| 4. |
- Buchanan, James, et al.
(author)
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Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
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In: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
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Journal article (peer-reviewed)abstract
- Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
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| 5. |
- Enell, Sofia, et al.
(author)
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Confinement and restrictive measures against young people in the Nordic countries : A comparative analysis of Denmark, Finland, Norway, and Sweden
- 2022
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In: Nordic journal of criminology. - : Taylor & Francis Group. - 2578-983X .- 2578-9821. ; 23:2, s. 174-191
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Journal article (peer-reviewed)abstract
- This article reviews and compares the use of confinement and other restrictive measures against young people under 18 in child welfare and/or the criminal justice systems in Denmark, Sweden, Finland, and Norway. Young people are confined for a variety of reasons, including protection, care, treatment, and punishment. However, confinement of young people is a contested issue because it can beviewed as necessary but also potentially harmful. Comparison of legislation and practices reveals that while there are some similarities in the service provisions for young people, there are also significant disparities among the four countries regarding the organization, function, and frequency of the use of confinement and restrictive measures. While Denmark and Sweden use secure welfare institutions, Finland and Norway apply other restrictive measures. Despite the differences in approaches to confinement in the Nordic countries, the use of confinement is guided by the principle of the child’s best interest, and the child welfare system is the main frame for confinement and intervention. The article discusses these disparate practices from the perspective of children’s rights and identifies new avenues for research and practice.
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| 6. |
- Gadsbøll, Kasper, et al.
(author)
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Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
- 2020
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In: Acta obstetricia et gynecologica Scandinavica. - : Wiley. - 1600-0412 .- 0001-6349. ; 99:6, s. 722-730
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Journal article (peer-reviewed)abstract
- Noninvasive prenatal testing (NIPT), using cell-free fetal DNA, has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared to both ultrasound and invasive procedures, but in spite of some shortcomings NIPT has become extensively used within the last five years. This study aims to describe the current use of NIPT in Europe, Australia and the USA.We conducted a survey to describe the current use of NIPT. Colleagues filled in a simple email-based questionnaire on NIPT in their own country, providing information on: 1) Access to NIPT, 2) NIPT's chromosomal coverage, 3) financial coverage of NIPT for the patient and 4) the proportion of women using NIPT in pregnancy. Some data are best clinical estimates, due to a lack of national data.In Europe, 14 countries have adopted NIPT into a national policy/program. Two countries (Belgium and the Netherlands) offer NIPT for all pregnant women, whereas most other European countries have implemented NIPT as an offer for higher risk women after first trimester screening. In Australia, either Combined First Trimester Screening (cFTS) or NIPT are used as primary prenatal screening tests. In the USA, there are no national consensus policies on the use of NIPT, however, NIPT is widely implemented. In most European countries offering NIPT, the proportion of women using NIPT is well below 25%. In the Netherlands, Austria, Italy, Spain and most Australian and American States, 25-50% of women have NIPT performed and only in Belgium it is above 75%. In most countries NIPT reports on trisomy 13, 18 and 21, and often also on sex chromosome aneuploidies. Only in Belgium, the Netherlands, Lithuania, Greece, Cyprus and Italy is NIPT offered predominantly as a genome-wide test (including some microdeletions or a whole genome coverage).NIPT has been widely adopted throughout Europe, Australia and the USA, but only some countries/states have a national policy on the use of NIPT. The variation in NIPT utilization is considerable.
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| 7. |
- Hellem, Marie N.N., et al.
(author)
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Decreased CSF oxytocin relates to measures of social cognitive impairment in Huntington's disease patients
- 2022
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In: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 99, s. 23-29
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Journal article (peer-reviewed)abstract
- Objective: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social cognition are proposed to be caused by dysfunction of the hypothalamus. We measured the hypothalamic neuropeptide oxytocin in plasma and cerebrospinal fluid (CSF) in a cohort of HD gene expansion carriers (HDGECs), compared the levels to healthy HD family controls and correlated oxytocin levels to disease progression and social cognition. Methods: We recruited 113 HDGECs and 33 controls. Psychiatric and cognitive symptoms were evaluated, and social cognition was assessed with the Emotion Hexagon test, Reading the Mind in the Eyes and The Awareness of Social Inference Test. The levels of oxytocin in CSF and blood were analyzed by radioimmunoassay. Results: We found the level of oxytocin in CSF to be significantly lower by 33.5% in HDGECs compared to controls (p = 0.016). When dividing the HDGECs into groups with or without cognitive impairment, we found the oxytocin level to be significantly lower by 30.3% in the HDGECs with cognitive symptoms (p = 0.046). We found a statistically significant correlation between the level of oxytocin and scores on social cognition (Reading the Mind in the Eyes p = 0.0019; Emotion Hexagon test: p = 0.0062; The Awareness of Social Inference Test: p = 0.002). Conclusions: This is the first study to measure oxytocin in the CSF of HDGECs. We find that HDGECs have a significantly lower level of oxytocin compared to controls, and that the level of oxytocin may represent an objective and comparable measure that could be used as a state biomarker for impairment of social cognition. We suggest treatment trials to evaluate a potential effect of oxytocin on social cognition in HD.
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| 8. |
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| 9. |
- Järlskog, Ida, 1991, et al.
(author)
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Concentrations of tire wear microplastics and other traffic-derived non-exhaust particles in the road environment
- 2022
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In: Environment International. - : Elsevier BV. - 0160-4120 .- 1873-6750. ; 170
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Journal article (peer-reviewed)abstract
- Tire wear particles (TWP) are assumed to be one of the major sources of microplastic pollution to the environment. However, many of the previously published studies are based on theoretical estimations rather than field measurements. To increase the knowledge regarding actual environmental concentrations, samples were collected and analyzed from different matrices in a rural highway environment to characterize and quantify TWP and other traffic-derived non-exhaust particles. The sampled matrices included road dust (from kerb and in-between wheeltracks), runoff (water and sediment), and air. In addition, airborne deposition was determined in a transect with increasing distance from the road. Two sieved size fractions (2–20 µm and 20–125 µm) were analyzed by automated Scanning Electron Microscopy/Energy Dispersive X-ray spectroscopy (SEM/EDX) single particle analysis and classified with a machine learning algorithm into the following subclasses: TWP, bitumen wear particles (BiWP), road markings, reflecting glass beads, metals, minerals, and biogenic/organic particles. The relative particle number concentrations (%) showed that the runoff contained the highest proportion of TWP (up to 38 %). The share of TWP in kerb samples tended to be higher than BiWP. However, a seasonal increase of BiWP was observed in coarse (20–125 µm) kerb samples during winter, most likely reflecting studded tire use. The concentration of the particle subclasses within airborne PM80-1 decreases with increasing distance from the road, evidencing road traffic as the main emission source. The results confirm that road dust and the surrounding environment contain traffic-derived microplastics in both size fractions. The finer fraction (2–20 µm) dominated (by mass, volume, and number) in all sample matrices. These particles have a high potential to be transported in water and air far away from the source and can contribute to the inhalable particle fraction (PM10) in air. This highlights the importance of including also finer particle fractions in future investigations.
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| 10. |
- Järlskog, Ida, 1991-, et al.
(author)
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Differentiating and Quantifying Carbonaceous (Tire, Bitumen, and Road Marking Wear) and Non-carbonaceous (Metals, Minerals, and Glass Beads) Non-exhaust Particles in Road Dust Samples from a Traffic Environment
- 2022
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In: Water, Air and Soil Pollution. - : Springer. - 0049-6979 .- 1573-2932. ; 233:9
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Journal article (peer-reviewed)abstract
- Tires, bitumen, and road markings are important sources of traffic-derived carbonaceous wear particles and microplastic (MP) pollution. In this study, we further developed a machine-learning algorithm coupled to an automated scanning electron microscopy/energy dispersive X-ray spectroscopy (SEM/EDX) analytical approach to classify and quantify the relative number of the following subclasses contained in environmental road dust: tire wear particles (TWP), bitumen wear particles (BiWP), road markings, reflecting glass beads, metallics, minerals, and biogenic/organics. The method is non-destructive, rapid, repeatable, and enables information about the size, shape, and elemental composition of particles 2-125 mu m. The results showed that the method enabled differentiation between TWP and BiWP for particles > 20 mu m with satisfying results. Furthermore, the relative number concentration of the subclasses was similar in both analyzed size fractions (2-20 mu m and 20-125 mu m), with minerals as the most dominant subclass (2-20 mu m x = 78%, 20-125 mu m x = 74%) followed by tire and bitumen wear particles, TBiWP, (2-20 mu m x = 19%, 20-125 mu m x = 22%). Road marking wear, glass beads, and metal wear contributed to x = 1%, x = 0.1%, and x = 1% in the 2-20-mu m fraction and to x = 0.5%, x = 0.2%, and x = 0.4% in the 20-125-mu m fraction. The present results show that road dust appreciably consists of TWP and BiWP within both the coarse and the fine size fraction. The study delivers quantitative evidence of the importance of tires, bitumen, road marking, and glass beads besides minerals and metals to wear particles and MP pollution in traffic environments based on environmental (real-world) samples
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| 11. |
- Karlsson, Linda, et al.
(author)
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Cerebrospinal fluid reference proteins increase accuracy and interpretability of biomarkers for brain diseases.
- 2024
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In: Nature Communications. - 2041-1723. ; 15:1
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Journal article (peer-reviewed)abstract
- Cerebrospinal fluid (CSF) biomarkers reflect brain pathophysiology and are used extensively in translational research as well as in clinical practice for diagnosis of neurological diseases, e.g., Alzheimer's disease (AD). However, CSF biomarker concentrations may be influenced by non-disease related inter-individual variability. Here we use a data-driven approach to demonstrate the existence of inter-individual variability in mean standardized CSF protein levels. We show that these non-disease related differences cause many commonly reported CSF biomarkers to be highly correlated, thereby producing misleading results if not accounted for. To adjust for this inter-individual variability, we identified and evaluated high-performing reference proteins which improved the diagnostic accuracy of key CSF AD biomarkers. Our reference protein method attenuates the risk for false positive findings, and improves the sensitivity and specificity of CSF biomarkers, with broad implications for both research and clinical practice.
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| 12. |
- Klionsky, Daniel J., et al.
(author)
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Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
- 2008
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In: Autophagy. - : Landes Bioscience. - 1554-8627 .- 1554-8635. ; 4:2, s. 151-175
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Research review (peer-reviewed)abstract
- Research in autophagy continues to accelerate,1 and as a result many new scientists are entering the field. Accordingly, it is important to establish a standard set of criteria for monitoring macroautophagy in different organisms. Recent reviews have described the range of assays that have been used for this purpose.2,3 There are many useful and convenient methods that can be used to monitor macroautophagy in yeast, but relatively few in other model systems, and there is much confusion regarding acceptable methods to measure macroautophagy in higher eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers of autophagosomes versus those that measure flux through the autophagy pathway; thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from fully functional autophagy that includes delivery to, and degradation within, lysosomes (in most higher eukaryotes) or the vacuole (in plants and fungi). Here, we present a set of guidelines for the selection and interpretation of the methods that can be used by investigators who are attempting to examine macroautophagy and related processes, as well as by reviewers who need to provide realistic and reasonable critiques of papers that investigate these processes. This set of guidelines is not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to verify an autophagic response.
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| 13. |
- Kløve, Magnus, et al.
(author)
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Zr4+ solution structures from pair distribution function analysis
- 2022
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In: Chemical Science. - : Royal Society of Chemistry (RSC). - 2041-6520 .- 2041-6539. ; 4
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Journal article (peer-reviewed)abstract
- The structures of metal ions in solution constitute essential information for obtaining chemical insight spanning from catalytic reaction mechanisms to formation of functional nanomaterials. Here, we explore Zr4+ solution structures using X-ray pair distribution function (PDF) analysis across pH (0-14), concentrations (0.1-1.5 M), solvents (water, methanol, ethanol, acetonitrile) and metal sources (ZrCl4, ZrOCl2·8H2O, ZrO(NO3)2·xH2O). In water, [Zr4(OH)8(OH2)16]8+-tetramers are predominant, while non-aqueous solvents contain monomeric complexes. The PDF analysis also reveals second sphere coordination of chloride counter ions to the aqueous tetramers. The results are reproducible across data measured at three different beamlines at the PETRA-III and MAX IV synchrotron light sources.
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| 14. |
- Menon, Ramkumar, et al.
(author)
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Ethnic differences in key candidate genes for spontaneous preterm birth: TNF-alpha and its receptors
- 2006
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In: HUMAN HEREDITY. - : S. Karger AG. - 0001-5652 .- 1423-0062. ; 62:2, s. 107-118
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Journal article (peer-reviewed)abstract
- <i>Objectives:</i> Spontaneous preterm birth (PTB) has a significant ethnic disparity with people of African descent having an almost 2-fold higher incidence than those of European descent in the United States. This disparity may be caused by differences in the distribution of genetic risk factors. The objective of this study is to examine genetic differences between African-Americans and European Americans for single nucleotide polymorphisms (SNPs) in candidate genes for PTB. <i>Methods:</i> We examined patterns of variation in 19 SNPs in 3 candidate genes for preterm birth: TNF-α, TNF-receptor 1 and TNF-receptor 2. Allele, genotype and haplotype frequencies were compared between African-Americans (AA) and European-Americans (EA) in cases and controls separately. Both maternal and fetal genotypes were studied, as it is unclear whether one or both of these are important in the etiology of PTB. <i>Results:</i> The vast majority of the SNPs differed significantly between ethnic groups, although there are only a few suggestive results comparing cases and controls within an ethnic group. For TNF-α, four of six SNPs; for TNF-R1, 5/6; and for TNF-R2, 6/7 showed significant differences between ethnic groups in either allele and/or genotype frequency. <i>Conclusions:</i> Our data demonstrate highly significant genetic differences between ethnic groups in genes that may play a role in the risk of PTB.
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| 15. |
- Menon, Ramkumar, 1967, et al.
(author)
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Increased Bioavailability of TNF-alpha in African Americans During In Vitro Infection: Predisposing Evidence for Immune Imbalance.
- 2007
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In: Placenta. ; 28:8-9, s. 946-50
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Journal article (peer-reviewed)abstract
- OBJECTIVE: The objective of this study is to examine TNF-alpha and its soluble and membrane bound receptors in fetal membranes derived from blacks and whites in response to in vitro infectious stimulus, and the balance between TNF-alpha and the receptors. Fetal membranes collected from black and white women at term were maintained in an organ explant system and stimulated with lipopolysaccharide (LPS). TNF-alpha, soluble TNF receptors (sTNFR1 and sTNFR2) in culture media and membrane bound TNF receptors (TNFR1 and TNFR2) in tissue homogenates were measured. Molar ratio (TNF/sTNFR) was calculated between LPS stimulated and unstimulated (controls) cultures in both races. TNF-alpha was increased in both races after LPS stimulation and showed no difference between races (p=0.7). LPS decreased sTNFR1 in blacks, but increased in whites, showing a significant difference between races (p=0.001). In blacks sTNFR2 also decreased and increased in whites, but the results were not significant between races (p=0.4). Both TNFR1 and TNFR2 were increased in blacks after LPS stimulation whereas no such changes were seen in whites compared to controls that were also significant between races. After LPS stimulation TNF-alpha bioavailability was increased in blacks with a drop in soluble receptors and with an increase in membrane receptors. This was not evident in whites because in whites soluble receptors were increased with no change in membrane receptors. Our data demonstrated that LPS stimulation results in a molar ratio switch favoring TNF-alpha biofunction in blacks, but not in whites.
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| 16. |
- Morken, Nils-Halvdan, 1969, et al.
(author)
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Reference population for international comparisons and time trend surveillance of preterm delivery proportions in three countries
- 2008
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In: BMC Womens Health. - : Springer Science and Business Media LLC. - 1472-6874. ; 8
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Journal article (peer-reviewed)abstract
- BACKGROUND: International comparison and time trend surveillance of preterm delivery rates is complex. New techniques that could facilitate interpretation of such rates are needed. METHODS: We studied all live births and stillbirths (>or= 28 weeks gestation) registered in the medical birth registers in Sweden, Denmark and Norway from 1995 through 2004. Gestational age was determined by best estimate. A reference population of pregnant women was designed using the following criteria: 1) maternal age 20-35, 2) primiparity, 3) spontaneously conceived pregnancy, 4) singleton pregnancy and 5) mother born in the respective country. National preterm delivery rate, preterm delivery rate in the reference population and rate of spontaneous preterm delivery in the reference population were calculated for each country. RESULTS: The total national preterm delivery rate (< 37 completed gestational weeks), increased in both Denmark (5.3% to 6.1%, p < 0.001) and Norway (6.0% to 6.4%, p = 0.006), but remained unchanged in Sweden, during 1995-2004. In Denmark, the preterm delivery rate in the reference population (5.3% to 6.3%, p < 0.001) and the spontaneous preterm delivery rate in the reference population (4.4% to 6.8%, p < 0.001) increased significantly. No similar increase was evident in Norway. In Sweden, rates in the reference population remained stable. CONCLUSION: Reference populations can facilitate overview and thereby explanations for changing preterm delivery rates. The model also permits comparisons over time. This model may in its simplicity prove to be a valuable supplement to assessments of national preterm delivery rates for public health surveillance.
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| 17. |
- Rødland, Elisabeth S., et al.
(author)
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Analytical challenges and possibilities for the quantification of tire-road wear particles
- 2023
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In: TrAC. Trends in analytical chemistry. - : Elsevier. - 0165-9936 .- 1879-3142. ; 165:August
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Journal article (peer-reviewed)abstract
- As one of the largest sources of microplastic particle emissions, tire-road wear particle mixtures (TRWPs) pose a potentially high threat to various environmental compartments. Their heterogenous properties, from varying particle size, density, shape, texture, elemental and chemical composition, cause chal-lenging analytical workflows. Current analytical methods for TRWP can be summarized in two main groups: single-particle-based and bulk-based methods. Both groups include a large variation of methods, with different demands for sampling and sample pre-treatment, and different possible outputs. This review provides an overview of the current analytical methods used for TRWP studies and in particularly quantifications, with focus on methods that have been peer-reviewed and tested for environmental samples. The review presents current possibilities and limitations with the different analytical ap-proaches, as well as highlighting gaps in the current TRWP knowledge and information needed to move this research field forward.
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| 18. |
- Skogstrand, K., et al.
(author)
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Effects of blood sample handling procedures on measurable inflammatory markers in plasma, serum and dried blood spot samples
- 2008
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In: Journal of Immunological Methods. - : Elsevier BV. - 0022-1759. ; 336:1, s. 78-84
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Journal article (peer-reviewed)abstract
- The interests in monitoring inflammation by immunoassay determination of blood inflammatory markers call for information on the stability of these markers in relation to the handling of blood samples. The increasing use of stored biobank samples for such ventures that may have been collected and stored for other purposes, justifies the study hereof. Blood samples were stored for 0, 4, 24, and 48 h at 4 degrees C, room temperature (RT), and at 35 degrees C, respectively, before they were separated into serum or plasma and frozen. Dried blood spot samples (DBSS) were stored for 0, 1, 2, 3, 7, and 30 days at the same temperatures. 27 inflammatory markers in serum and plasma and 25 markers in DBSS were measured by a previously validated multiplex sandwich immunoassay using Luminex xMAP technology. The measurable concentrations of several cytokines in serum and plasma were significantly increased when blood samples were stored for a period of time before the centrifugation, for certain cytokines more than 1000 fold compared to serum and plasma isolated and frozen immediately after venepuncture. The concentrations in serum generally increased more than in plasma. The measurable concentrations of inflammatory markers also changed in DBSS stored under various conditions compared to controls frozen immediately after preparation, but to a much lesser degree than in plasma or serum. The study demonstrates that trustworthy measurement of several inflammatory markers relies on handling of whole blood samples at low temperatures and rapid isolation of plasma and serum. Effects of different handling procedures for all markers studied are given. DBSS proved to be a robust and convenient way to handle samples for immunoassay analysis of inflammatory markers in whole blood.
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| 19. |
- Thomassen, Mads, et al.
(author)
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A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing
- 2011
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In: Breast Cancer Research and Treatment. - : Springer Science and Business Media LLC. - 1573-7217 .- 0167-6806. ; 128:1, s. 179-185
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Journal article (peer-reviewed)abstract
- Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose carriers to breast and ovarian cancer. The authors have identified a mutation in BRCA2, 7845+1G > A (c.7617+1G > A), not previously regarded as deleterious because of incorrect mapping of the splice junction in the originally published genomic reference sequence. This reference sequence is generally used in many laboratories and it maps the mutation 16 base pairs inside intron 15. However, according to the recent reference sequences the mutation is located in the consensus donor splice sequence. By reverse transcriptase analysis, loss of exon 15 in the final transcript interrupting the open reading frame was demonstrated. Furthermore, the mutation segregates with a cancer phenotype in 18 Danish families. By genetic analysis of more than 3,500 Danish breast/ovarian cancer risk families, the mutation was identified as the most common BRCA2 mutation in West Denmark, while it is rare in Central and East Denmark and not identified in South Sweden. Haplotype analysis using dense SNP arrays indicated a common founder of the mutation approximately 1,500 years ago.
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| 20. |
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| 21. |
- Vogel, Ida, et al.
(author)
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Acquisition and Elimination of Bacterial Vaginosis During Pregnancy: A Danish Population-Based Study
- 2006
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In: Infectious Diseases in Obstetrics and Gynecology.
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Journal article (peer-reviewed)abstract
- Objectives: the aim was to examine factors associated with acquisition and elimination of bacterial vaginosis in pregnancy. Methods: a group of 229 pregnant women were randomly selected from a population-based prospective cohort study of 2927. They were examined at enrollment (mean gestational weeks 16w+0d) and again in mid-third trimester (mean gestational age 32w+3d). Measures: BV (Amsel's clinical criteria), microbiological cultures of the genital tract and questionnaire data. Results: BV prevalence decreased from 17% in early second trimester to 14% in mid-third trimester due to a tenfold higher elimination rate (39%) than incidence rate (4%). Heavy smokers (>10/d) in early pregnancy were at increased risk (5.3[1.1−25]) for the acquisition of BV during pregnancy, as were women receiving public benefits (4.8[1.0−22]), having a vaginal pH above 4.5(6.3[1.4−29]) or vaginal anaerobe bacteria (18[2.7−122]) at enrollment. A previous use of combined oral contraceptives was preventive for the acquisition of BV (0.2[0.03−0.96]). Elimination of BV in pregnancy tended to be associated with a heavy growth of Lactobacillus (3.2[0.8−13]) at enrollment. Conclusions: acquisition of BV during pregnancy is rare and is associated with smoking, while the presence of anaerobe bacteria and a vaginal pH >4.5 are interpreted as steps on a gradual change towards BV. In the same way heavy growth of Lactobacillus spp in early pregnancy may be an indicator of women on the way to eliminate BV.
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| 22. |
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