| 1. |
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| 2. |
- Karlsson, Klas-Göran, et al.
(författare)
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Inledning
- 2010
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Ingår i: Historia på väg mot framtiden : historiedidaktiska perspektiv på skola och samhälle - historiedidaktiska perspektiv på skola och samhälle. - 9789197889902 ; nr 1, s. 7-11
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Kapitlet är en introduktion till en antologi, tillkommen inom ramen för Forskarskolan i historia och historiedidaktik
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| 3. |
- Karlsson, Klas-Göran, et al.
(författare)
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Inledning
- 2010
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Ingår i: Möten med historiens mångfald. - 9789185509461 ; , s. 9-11
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Lindberg, Sara, et al.
(författare)
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Expanded HILUS Trial: A Pooled Analysis of Risk Factors for Toxicity From Stereotactic Body Radiation Therapy of Central and Ultracentral Lung Tumors
- 2023
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Ingår i: INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS. - 0360-3016 .- 1879-355X. ; 117:5, s. 1222-1231
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Stereotactic body radiation therapy for tumors near the central airways implies high-grade toxic effects, as concluded from the HILUS trial. However, the small sample size and relatively few events limited the statistical power of the study. We therefore pooled data from the prospective HILUS trial with retrospective data from patients in the Nordic countries treated outside the prospective study to evaluate toxicity and risk factors for high-grade toxic effects. Methods and Materials: All patients were treated with 56 Gy in 8 fractions. Tumors within 2 cm of the trachea, the mainstem bronchi, the intermediate bronchus, or the lobar bronchi were included. The primary endpoint was toxicity, and the secondary endpoints were local control and overall survival. Clinical and dosimetric risk factors were analyzed for treatment-related fatal toxicity in univariable and multivariable Cox regression analyses.Results: Of 230 patients evaluated, grade 5 toxicity developed in 30 patients (13%), of whom 20 patients had fatal bronchopul-monary bleeding. The multivariable analysis revealed tumor compression of the tracheobronchial tree and maximum dose to the mainstem or intermediate bronchus as significant risk factors for grade 5 bleeding and grade 5 toxicity. The 3-year local control and overall survival rates were 84% (95% CI, 80%-90%) and 40% (95% CI, 34%-47%), respectively.Conclusions: Tumor compression of the tracheobronchial tree and high maximum dose to the mainstem or intermediate bronchus increase the risk of fatal toxicity after stereotactic body radiation therapy in 8 fractions for central lung tumors. Simi-lar dose constraints should be applied to the intermediate bronchus as to the mainstem bronchi.
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| 5. |
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| 6. |
- Almstrand, Ann-Charlotte, et al.
(författare)
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An explorative study on respiratory health among operators working in polymer additive manufacturing
- 2023
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Ingår i: Frontiers in Public Health. - : Frontiers Media S.A.. - 2296-2565. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Additive manufacturing (AM), or 3D printing, is a growing industry involving a wide range of different techniques and materials. The potential toxicological effects of emissions produced in the process, involving both ultrafine particles and volatile organic compounds (VOCs), are unclear, and there are concerns regarding possible health implications among AM operators.The objective of this study was to screen the presence of respiratory health effects among people working with liquid, powdered, or filament plastic materials in AM. MethodsIn total, 18 subjects working with different additive manufacturing techniques and production of filament with polymer feedstock and 20 controls participated in the study. Study subjects filled out a questionnaire and underwent blood and urine sampling, spirometry, impulse oscillometry (IOS), exhaled NO test (FeNO), and collection of particles in exhaled air (PEx), and the exposure was assessed. Analysis of exhaled particles included lung surfactant components such as surfactant protein A (SP-A) and phosphatidylcholines. SP-A and albumin were determined using ELISA. Using reversed-phase liquid chromatography and targeted mass spectrometry, the relative abundance of 15 species of phosphatidylcholine (PC) was determined in exhaled particles. The results were evaluated by univariate and multivariate statistical analyses (principal component analysis). ResultsExposure and emission measurements in AM settings revealed a large variation in particle and VOC concentrations as well as the composition of VOCs, depending on the AM technique and feedstock. Levels of FeNO, IOS, and spirometry parameters were within clinical reference values for all AM operators. There was a difference in the relative abundance of saturated, notably dipalmitoylphosphatidylcholine (PC16:0_16:0), and unsaturated lung surfactant lipids in exhaled particles between controls and AM operators. ConclusionThere were no statistically significant differences between AM operators and controls for the different health examinations, which may be due to the low number of participants. However, the observed difference in the PC lipid profile in exhaled particles indicates a possible impact of the exposure and could be used as possible early biomarkers of adverse effects in the airways.
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| 7. |
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| 8. |
- Assenhöj, Maria, et al.
(författare)
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Occupational exposure and health surveys at metal additive manufacturing facilities
- 2023
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Ingår i: Frontiers In Public Health. - : FRONTIERS MEDIA SA. - 2296-2565. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Additive manufacturing is a novel state-of-the art technology with significant economic and practical advantages, including the ability to produce complex structures on demand while reducing the need of stocking materials and products. Additive manufacturing is a technology that is here to stay; however, new technologies bring new challenges, not only technical but also from an occupational health and safety perspective. Herein, leading Swedish companies using metal additive manufacturing were studied with the aim of investigating occupational exposure and the utility of chosen exposure- and clinical markers as predictors of potential exposure-related health risks.Methods: Exposure levels were investigated by analysis of airborne dust and metals, alongside particle counting instruments measuring airborne particles in the range of 10 nm-10 mu m to identify dusty work tasks. Health examinations were performed on a total of 48 additive manufacturing workers and 39 controls. All participants completed a questionnaire, underwent spirometry, and blood and urine sampling. A subset underwent further lung function tests.Results: Exposure to inhalable dust and metals were low, but particle counting instruments identified specific work tasks with high particle emissions. Examined health parameters were well within reference values on a group level. However, statistical analysis implied an impact on workers kidney function and possible airway inflammation.Conclusion: The methodology was successful for investigating exposure-related health risks in additive manufacturing. However, most participants have been working <5 years. Therefore, long-term studies are needed before we can conclusively accept or reject the observed effects on health.
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| 9. |
- B Jensen, Irene, et al.
(författare)
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Promoting Evidence-Based Practice for Improved Occupational Safety and Health at Workplaces in Sweden. Report on a Practice-Based Research Network Approach.
- 2020
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 17:15
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Tidskriftsartikel (refereegranskat)abstract
- Despite the rapid growth in research and R&D expenditures, the translation of research into practice is limited. One approach to increase the translation and utilization of research is practice based research networks. With the aim of strengthening evidence-based practice (EBP) within occupational health services in Sweden (OH-Services), a practice-based research network (PBRN-OSH) was developed. The PBRN-OSH includes researchers and representatives from end-users. This paper reports on the development, outputs and lessons learned in the PBRN-OSH. The PBRN-OSH resulted in several practice-based research projects as well as different measures to ensure EBP in OSH such as the governmentally sanctioned national guidelines for the OH-services. Moreover, results show that the competence in EBP increased among practitioners at the OH-services. Conducting research in a PBRN is more resource demanding; however, this does not imply that it is less cost effective. To succeed in increasing the utility of research findings via PBRN, resources must be invested into an infrastructure that supports collaboration in the PBRN, including costs for a variety of means of dissemination. Further, translation activities need to be included in academic career paths and reward systems if a major improvement in the impact and return of investments from research is to be expected.
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| 10. |
- Bang, Charlotte Sahlberg, 1967-, et al.
(författare)
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The antibacterial effect of nitric oxide against ESBL-producing uropathogenic E-coli is improved by combination with miconazole and polymyxin B nonapeptide
- 2014
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Ingår i: BMC Microbiology. - London : BioMed Central. - 1471-2180. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- Background: Nitric oxide (NO) is produced as part of the host immune response to bacterial infections, including urinary tract infections. The enzyme flavohemoglobin, coded by the hmp gene, is involved in protecting bacterial cells from the toxic effects of NO and represents a potentially interesting target for development of novel treatment concepts against resistant uropathogenic bacteria. The aim of the present study was to investigate if the in vitro antibacterial effects of NO can be enhanced by pharmacological modulation of the enzyme flavohemoglobin.Results: Four clinical isolates of multidrug-resistant extended-spectrum beta-lactamase (ESBL)-producing uropathogenic E. coli were included in the study. It was shown that the NO-donor substance DETA/NO, but not inactivated DETA/NO, caused an initial growth inhibition with regrowth noted after 8 h of exposure. An hmp-deficient strain showed a prolonged growth inhibition in response to DETA/NO compared to the wild type. The imidazole antibiotic miconazole, that has been shown to inhibit bacterial flavohemoglobin activity, prolonged the DETA/NO-evoked growth inhibition. When miconazole was combined with polymyxin B nonapeptide (PMBN), in order to increase the bacterial wall permeability, DETA/NO caused a prolonged bacteriostatic response that lasted for up to 24 h.Conclusion: An NO-donor in combination with miconazole and PMBN showed enhanced antimicrobial effects and proved effective against multidrug-resistant ESBL-producing uropathogenic E. coli.
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| 11. |
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| 12. |
- Bengtsson, Torbjörn, et al.
(författare)
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The periodontal pathogen Porphyromonas gingivalis cleaves apoB-100 and increases the expression of apoM in LDL in whole blood leading to cell proliferation
- 2008
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Ingår i: Journal of Internal Medicine. - : Institutionen för medicin och hälsa. - 0954-6820 .- 1365-2796. ; 263:5, s. 558-571
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Tidskriftsartikel (refereegranskat)abstract
- Objective: Several studies support an association between periodontal disease and atherosclerosis with a crucial role for the pathogen Porphyromonas gingivalis. This study aims to investigate the proteolytic and oxidative activity of P. gingivalis on LDL in a whole blood system by using a proteomic approach and analyze the effects of P. gingivalis-modifed LDL on cell proliferation.Methods: The cellular effects of P. gingivalis in human whole blood were assessed using lumi-aggregometry analyzing reactive oxygen species (ROS) production and aggregation. Blood was incubated for 30 min with P. gingivalis, whereafter LDL was isolated and a proteomic approach was applied to examine protein expression. LDL-oxidation was determined by analyzing the formation of protein carbonyls. The effects of P. gingivalis-modifed LDL on fibroblast proliferation were studied using the MTS-assay.Results: Incubation of whole blood with P. gingivalis caused an extensive aggregation and ROS-production, indicating platelet and leukocyte activation. LDL prepared from the bacteria-exposed blood showed an increased protein oxidation, elevated levels of apoM and formation of two apoB-100 N-terminal fragments. P. gingivalis-modified LDL markedly increased the growth of fibroblasts. Inhibition of gingipain R suppressed the modification of LDL by P. gingivalis.Conclusions: The ability of P. gingivalis to change the protein expression and the proliferative capacity of LDL may represent a crucial event in periodontitis-associated atherosclerosis.
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| 13. |
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| 14. |
- Bergström, Ingrid, et al.
(författare)
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Back extensor training increases muscle strength in postmenopausal women with osteoporosis, kyphosis and vertebral fractures
- 2011
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Ingår i: Advances in Physiotherapy. - : Informa Healthcare. - 1403-8196 .- 1651-1948. ; 13:3, s. 110-117
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Tidskriftsartikel (refereegranskat)abstract
- We determined the efficacy of a back muscle extensor strengthening program on the back muscle extensor strength, kyphosis, height and thoracic expansion in women with at least one vertebral fracture, kyphosis and osteoporosis. Thirty-six patients were included and randomized to a control or a training group. The training focused on back muscle extensor strengthening program for 1 h, twice a week for 4 months and was performed by a physiotherapist. The main outcome measure was the back muscle extensor strength. In an intention-to-treat analysis no significant effects on back muscle strength in the training group vs. controls could be seen (p = 0.74). In a per-protocol analysis (n = 28), the training group increased back muscle strength from 290 ± 87 to 331 ± 89 N while the control group showed no improvement. After adjusting for the strength at baseline, a significant effect of training could be demonstrated (p = 0.029). When comparing the heights between the groups a significant group × time interaction was observed (p = 0.012) where the training women increased their mean height with 0.3 cm (p = 0.101) and controls decreased 0.44 cm (p = 0.045). The training group improved their thoracic expansion compared with baseline (p = 0.03). No effect of training on kyphosis was seen. In conclusion, a 4-months back extensor training program can improve back strength and seems to maintain height and thoracic expansion.
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| 15. |
- Björck, Sara, et al.
(författare)
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Reduced Bone Mineral Density in Children with Screening-detected Celiac Disease
- 2017
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Ingår i: Journal of Pediatric Gastroenterology and Nutrition. - 0277-2116. ; 65:5, s. 526-532
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The aim of the study was to assess whether bone mass and metabolism are impaired in genetically at-risk children with screening-detected celiac disease. Methods: Included were 71 children with screening-detected celiac disease diagnosed at 10.0 ± 0.7 (mean ± standard deviation) years and 142 matched controls and 30 children with screening-detected celiac disease diagnosed at 3.3 ± 0.4 years of age presently on a gluten-free diet for 6.9 ± 1.1 years and 60 matched controls. All participants were assessed for bone mineral density (BMD) of total body and spine by dual X-ray absorptiometry, serum 25(OH) vitamin D3, parathyroid hormone (PTH), interleukin (IL)-1β, IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12p70, IL-13, IL-15, interferon gamma, and tumor necrosis factor alpha. Results: At diagnosis, screening-detected celiac disease children as compared to controls had a mean-0.03 g/cm 2 reduced BMD of both total body and spine (P = 0.009 and P = 0.005, respectively), a mean-11.4 nmol/L lower level of 25(OH) vitamin D3 (P < 0.001), and a mean +1.0 pmol/L higher PTH level (P < 0.001). Systemic levels of the cytokines IL-1β, IL-6, IL-8, IL-10, IL-12p70, IL-13, and tumor necrosis factor alpha were all increased in screening-detected celiac disease as compared to controls (P < 0.001). No difference in BMD, 25(OH) vitamin D3, PTH, and cytokine levels were detected in children on a gluten-free diet compared with controls. Conclusions: Children with screening-detected celiac disease have reduced BMD, lower levels of vitamin D3, higher levels of PTH, and signs of systemic inflammation compared with controls. These differences were not found in celiac disease children on a gluten-free diet, indicating that children with screening-detected celiac disease benefit from an early diagnosis and treatment.
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| 16. |
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| 17. |
- Broesby-Olsen, Sigurd, et al.
(författare)
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Multidisciplinary Management of Mastocytosis : Nordic Expert Group Consensus
- 2016
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 96:5
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Tidskriftsartikel (refereegranskat)abstract
- Mastocytosis is a heterogeneous group of diseases defined by an increased number and accumulation of mast cells, and often also by signs and symptoms of mast cell activation. Disease subtypes range from indolent to rare aggressive forms. Mastocytosis affects people of all ages and has been considered rare; however, it is probably underdiagnosed with potential severe implications. Diagnosis can be challenging and symptoms may be complex and involve multiple organ-systems. In general it is advised that patients should be referred to centres with experience in the disease offering an individualized, multidisciplinary approach. We present here consensus recommendations from a Nordic expert group for the diagnosis and general management of patients with mastocytosis.
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| 18. |
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| 19. |
- Bäckman, Karin, et al.
(författare)
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Vårdens alltför svåra val? : kartläggning av prioriteringsarbete och analys av riksdagens principer och riktlinjer för prioriteringar i hälso- och sjukvården
- 2007
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- PrioriteringsCentrum har på uppdrag av Socialstyrelsen genomfört en kartläggning av på vilket sätt hälso- och sjukvårdens huvudmän och andra centrala aktörer arbetar med prioriteringar och har utvärderat hur detta arbete överensstämmer med intentionerna i riksdagens beslut om prioriteringar. Vi har även analyserat innehållet i och tillämpningen av riksdagens riktlinjer för prioriteringar i hälso- och sjukvården. Det har skett genom en etisk analys och mot bakgrund av ett stort antal intervjuer i landsting och kommuner samt med representanter för statliga myndigheter och yrkesorganisationer och med ledning av vad som framkommit i tidigare uppföljningar. Vi föreslår i rapporten ett anta förändringar och förtydliganden av riktlinjerna.Vi kan konstatera att sättet att arbeta med prioriteringar i landsting och kommuner inte är helt olikt det som gällde när Prioriteringsdelegationen redovisade en motsvarande uppföljning år 2001. Fortfarande finns knappast några öppna beslut om fördelning och prioritering av resurser om man med öppenhet avser att beslutsfattaren medvetet överväger flera alternativ och att grunderna för besluten är kända för dem som önskar ta del av dem.I situationer då tillgängliga resurser inte befinner sig i paritet med önskvärda ambitioner får sjukvårdspersonalen ta det största ansvaret för att besluta om och genomföra ransonering av vården. Förutom på chefsnivå tycks dock sjukvårdpersonal fortfarande i liten utsträckning vara medveten om de etiska principer som enligt riksdagsbeslutet ska styra prioriteringar i vården. Få känner till den etiska plattformen med de tre etiska principerna. Lokala mallar eller styrdokument för prioriteringar är ovanliga. Det saknas nödvändiga förutsättningar för att tillämpa riksdagens prioriteringsbeslut och det finns inte heller några tydliga strategier för hur man vill skapa sådana förutsättningar inom landstingen.Den kommunala vård- och omsorgsverksamheten upplever sig fortfarande i ringa utsträckning berörd av den etiska plattformen och prioriteringsprinciperna. Någon gemensam prioritering mellan huvudmännen sker knappast alls.Medborgarna är i mycket liten utsträckning involverade i prioriteringsarbetet. Den ökade öppenheten gentemot brukare innebär oftast att viss information om prioriteringar sker genom traditionella kanaler som patientorganisationer, pensionärsråd och handikappråd och synpunkter inhämtas via allmänna patientenkäter medan klagomål hanteras genom patientnämnder.Vi har också funnit tydliga skillnader när det gäller hur arbetet med prioriteringar bedrivs idag jämfört med för sex år sedan. Genom Socialstyrelsen och Läkemedelsförmånsnämnden har staten tagit ledningen när det gäller att visa hur prioriteringar kan göras på ett systematiskt och öppet sätt. Detta arbete har resulterat i en tydlig metodutveckling. Idag finns det dessutom flera exempel på konkret utvecklingsarbete och samverkan mellan huvudmän kring det vidare begreppet kunskapsstyrd vård till vilket systematiska prioriteringar är starkt relaterat. Vi kan också notera olika initiativ till vertikala prioriteringar i verksamheten där det framförallt är läkarkåren som engagerat sig; men också enstaka försök med systematiska politiska prioriteringar. Det finns dessutom flera lovande utvecklingsprojekt rörande prioriteringar som initierats av och drivs av sjukvårdspersonal både lokalt och nationellt. Yrkesförbunden är också mer aktiva idag när det gäller att sprida kunskap om prioriteringar....
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| 20. |
- Cammareri, Patrizia, et al.
(författare)
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Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Melanoma patients treated with oncogenic BRAF inhibitors can develop cutaneous squamous cell carcinoma (cSCC) within weeks of treatment, driven by paradoxical RAS/RAF/MAPK pathway activation. Here we identify frequent TGFBR1 and TGFBR2 mutations in human vemurafenib-induced skin lesions and in sporadic cSCC. Functional analysis reveals these mutations ablate canonical TGFβ Smad signalling, which is localized to bulge stem cells in both normal human and murine skin. MAPK pathway hyperactivation (through Braf V600E or Kras G12D knockin) and TGFβ signalling ablation (through Tgfbr1 deletion) in LGR5 +ve stem cells enables rapid cSCC development in the mouse. Mutation of Tp53 (which is commonly mutated in sporadic cSCC) coupled with Tgfbr1 deletion in LGR5 +ve cells also results in cSCC development. These findings indicate that LGR5 +ve stem cells may act as cells of origin for cSCC, and that RAS/RAF/MAPK pathway hyperactivation or Tp53 mutation, coupled with loss of TGFβ signalling, are driving events of skin tumorigenesis.
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| 21. |
- Chen, Yen Hsi, et al.
(författare)
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The GAGOme : a cell-based library of displayed glycosaminoglycans
- 2018
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Ingår i: Nature Methods. - : Springer Science and Business Media LLC. - 1548-7091 .- 1548-7105. ; 15:11, s. 881-888
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Tidskriftsartikel (refereegranskat)abstract
- Glycosaminoglycans (GAGs) are essential polysaccharides in normal physiology and disease. However, understanding of the contribution of specific GAG structures to specific biological functions is limited, largely because of the great structural heterogeneity among GAGs themselves, as well as technical limitations in the structural characterization and chemical synthesis of GAGs. Here we describe a cell-based method to produce and display distinct GAGs with a broad repertoire of modifications, a library we refer to as the GAGOme. By using precise gene editing, we engineered a large panel of Chinese hamster ovary cells with knockout or knock-in of the genes encoding most of the enzymes involved in GAG biosynthesis, to generate a library of isogenic cell lines that differentially display distinct GAG features. We show that this library can be used for cell-based binding assays, recombinant expression of proteoglycans with distinct GAG structures, and production of distinct GAG chains on metabolic primers that may be used for the assembly of GAG glycan microarrays.
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| 22. |
- Christiansen, Evald H, et al.
(författare)
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Instantaneous Wave-free Ratio versus Fractional Flow Reserve to Guide PCI.
- 2017
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Ingår i: The New England journal of medicine. - : Massachussetts Medical Society. - 1533-4406 .- 0028-4793. ; 376:19, s. 1813-1823
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Tidskriftsartikel (refereegranskat)abstract
- The instantaneous wave-free ratio (iFR) is an index used to assess the severity of coronary-artery stenosis. The index has been tested against fractional flow reserve (FFR) in small trials, and the two measures have been found to have similar diagnostic accuracy. However, studies of clinical outcomes associated with the use of iFR are lacking. We aimed to evaluate whether iFR is noninferior to FFR with respect to the rate of subsequent major adverse cardiac events.We conducted a multicenter, randomized, controlled, open-label clinical trial using the Swedish Coronary Angiography and Angioplasty Registry for enrollment. A total of 2037 participants with stable angina or an acute coronary syndrome who had an indication for physiologically guided assessment of coronary-artery stenosis were randomly assigned to undergo revascularization guided by either iFR or FFR. The primary end point was the rate of a composite of death from any cause, nonfatal myocardial infarction, or unplanned revascularization within 12 months after the procedure.A primary end-point event occurred in 68 of 1012 patients (6.7%) in the iFR group and in 61 of 1007 (6.1%) in the FFR group (difference in event rates, 0.7 percentage points; 95% confidence interval [CI], -1.5 to 2.8; P=0.007 for noninferiority; hazard ratio, 1.12; 95% CI, 0.79 to 1.58; P=0.53); the upper limit of the 95% confidence interval for the difference in event rates fell within the prespecified noninferiority margin of 3.2 percentage points. The results were similar among major subgroups. The rates of myocardial infarction, target-lesion revascularization, restenosis, and stent thrombosis did not differ significantly between the two groups. A significantly higher proportion of patients in the FFR group than in the iFR group reported chest discomfort during the procedure.Among patients with stable angina or an acute coronary syndrome, an iFR-guided revascularization strategy was noninferior to an FFR-guided revascularization strategy with respect to the rate of major adverse cardiac events at 12 months. (Funded by Philips Volcano; iFR SWEDEHEART ClinicalTrials.gov number, NCT02166736 .).
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| 23. |
- Coviello, Andrea D, et al.
(författare)
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A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
- 2012
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404 .- 1553-7390. ; 8:7
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Tidskriftsartikel (refereegranskat)abstract
- Sex hormone-binding globulin (SHBG) is a glycoprotein responsible for the transport and biologic availability of sex steroid hormones, primarily testosterone and estradiol. SHBG has been associated with chronic diseases including type 2 diabetes (T2D) and with hormone-sensitive cancers such as breast and prostate cancer. We performed a genome-wide association study (GWAS) meta-analysis of 21,791 individuals from 10 epidemiologic studies and validated these findings in 7,046 individuals in an additional six studies. We identified twelve genomic regions (SNPs) associated with circulating SHBG concentrations. Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p=1.8×10(-106)), PRMT6 (rs17496332, 1p13.3, p=1.4×10(-11)), GCKR (rs780093, 2p23.3, p=2.2×10(-16)), ZBTB10 (rs440837, 8q21.13, p=3.4×10(-09)), JMJD1C (rs7910927, 10q21.3, p=6.1×10(-35)), SLCO1B1 (rs4149056, 12p12.1, p=1.9×10(-08)), NR2F2 (rs8023580, 15q26.2, p=8.3×10(-12)), ZNF652 (rs2411984, 17q21.32, p=3.5×10(-14)), TDGF3 (rs1573036, Xq22.3, p=4.1×10(-14)), LHCGR (rs10454142, 2p16.3, p=1.3×10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p=2.7×10(-08)), and UGT2B15 (rs293428, 4q13.2, p=5.5×10(-06)). These genes encompass multiple biologic pathways, including hepatic function, lipid metabolism, carbohydrate metabolism and T2D, androgen and estrogen receptor function, epigenetic effects, and the biology of sex steroid hormone-responsive cancers including breast and prostate cancer. We found evidence of sex-differentiated genetic influences on SHBG. In a sex-specific GWAS, the loci 4q13.2-UGT2B15 was significant in men only (men p=2.5×10(-08), women p=0.66, heterogeneity p=0.003). Additionally, three loci showed strong sex-differentiated effects: 17p13.1-SHBG and Xq22.3-TDGF3 were stronger in men, whereas 8q21.12-ZBTB10 was stronger in women. Conditional analyses identified additional signals at the SHBG gene that together almost double the proportion of variance explained at the locus. Using an independent study of 1,129 individuals, all SNPs identified in the overall or sex-differentiated or conditional analyses explained ∼15.6% and ∼8.4% of the genetic variation of SHBG concentrations in men and women, respectively. The evidence for sex-differentiated effects and allelic heterogeneity highlight the importance of considering these features when estimating complex trait variance.
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| 24. |
- Danielsson, Henrik, et al.
(författare)
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A Systematic Review of Longitudinal Trajectories of Mental Health Problems in Children with Neurodevelopmental Disabilities
- 2024
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Ingår i: Journal of Developmental and Physical Disabilities. - : Springer. - 1056-263X .- 1573-3580. ; 36, s. 203-242
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Forskningsöversikt (refereegranskat)abstract
- To review the longitudinal trajectories - and the factors influencing their development - of mental health problems in children with neurodevelopmental disabilities. Systematic review methods were employed. Searches of six databases used keywords and MeSH terms related to children with neurodevelopmental disabilities, mental health problems, and longitudinal research. After the removal of duplicates, reviewers independently screened records for inclusion, extracted data (outcomes and influencing factors), and evaluated the risk of bias. Findings were tabulated and synthesized using graphs and a narrative. Searches identified 94,662 unique records, from which 49 publications were included. The median publication year was 2015. Children with attention deficit hyperactivity disorder were the most commonly included population in retrieved studies. In almost 50% of studies, trajectories of mental health problems changed by < 10% between the first and last time point. Despite multiple studies reporting longitudinal trajectories of mental health problems, greater conceptual clarity and consideration of the measures included in research is needed, along with the inclusion of a more diverse range of populations of children with neurodevelopmental disabilities.
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| 25. |
- Dufva, Charlotte, et al.
(författare)
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DNA profiles obtained from urine in snow
- 2019
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Ingår i: Forensic Science International. - : ELSEVIER IRELAND LTD. - 1875-1768 .- 1875-175X. ; 7:1, s. 544-545
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Tidskriftsartikel (refereegranskat)abstract
- Urine can be a potential important source of evidence when occurring at crime scenes. In case of outdoor scenes including snow a yellow colour could indicate the existence of human urine. In an effort to be able to investigate urine as a crime scene sample we have evaluated protocols for analysing DNA from urine in snow. Two different tests were performed with a smaller and a larger volume of urine dispensed on snow. The tubes were put into a freezer to mimic winter conditions. A Urine Preservative was added to some of the samples. DNA profiles were compared between samples extracted using a Urine DNA Isolation Kit and samples extracted with a Chelex-based method. In addition, a test was performed with the aim to mimic a potential crime scene. With a smaller volume of urine the best quality DNA profiles were obtained using the Urine DNA Isolation Kit without the Urine Preservative. When a larger volume of urine was handled and in the crime scene setup, there were no clear difference between the two extraction methods. Instead, the variation observed was between individuals.
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