| 1. |
- Taal, H. Rob, et al.
(författare)
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Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
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| 2. |
- Alken, Jenny, et al.
(författare)
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Rates of Extreme Neonatal Hyperbilirubinemia and Kernicterus in Children and Adherence to National Guidelines for Screening, Diagnosis, and Treatment in Sweden
- 2019
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Ingår i: JAMA Network Open. - : AMER MEDICAL ASSOC. - 2574-3805. ; 2:3
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Neonatal hyperbilirubinemia can cause lifelong neurodevelopmental impairment (kernicterus) even in high-resource settings. A better understanding of the incidence and processes leading to kernicterus may help in the design of preventive measures. OBJECTIVES To determine incidence rates of hazardous hyperbilirubinemia and kernicterus among near-term to term newborns and to evaluate health care professional adherence to best practices. DESIGN, SETTING, AND PARTICIPANTS This population-based nationwide cohort study used prospectively collected data on the highest serum bilirubin level for all infants born alive at 35 weeks' gestation or longer and admitted to neonatal care at all 46 delivery and 37 neonatal units in Sweden from 2008 to 2016. Medical records for newborns with hazardous hyperbilirubinemia were evaluated for best neonatal practices and for a diagnosis of kernicterus up to 2 years of age. Data analyses were performed between September 2017 and February 2018. EXPOSURES Extreme (serum bilirubin levels, 25.0-29.9mg/dL [425-509 mu mol/L]) and hazardous (serum bilirubin levels, >30.0mg/dL [>510 mu mol/L]) neonatal hyperbilirubinemia. MAIN OUTCOMES AND MEASURES The primary outcome was kernicterus, defined as hazardous neonatal hyperbilirubinemia followed by cerebral palsy, sensorineural hearing loss, gaze paralysis, or neurodevelopmental retardation. Secondary outcomeswere health care professional adherence to national guidelines using a predefined protocol with 10 key performance indicators for diagnosis and treatment as well as assessment of whether bilirubin-associated brain damage might have been avoidable. RESULTS Among 992 378 live-born infants (958 051 term births and 34 327 near-term births), 494 (320 boys; mean [SD] birth weight, 3505 [527] g) developed extreme hyperbilirubinemia (50 per 100 000 infants), 6.8 per 100 000 infants developed hazardous hyperbilirubinemia, and 1.3 per 100 000 infants developed kernicterus. Among 13 children developing kernicterus, brain injury was assessed as potentially avoidable for 11 children based on the presence of 1 or several of the following possible causes: untimely or lack of predischarge bilirubin screening (n = 6), misinterpretation of bilirubin values (n = 2), untimely or delayed initiation of treatment with intensive phototherapy (n = 1), untimely or no treatment with exchange transfusion (n = 6), or lack of repeated exchange transfusions despite indication (n = 1). CONCLUSIONS AND RELEVANCE Hazardous hyperbilirubinemia in near-term or term newborns still occurs in Sweden and was associated with disabling brain damage in 13 per million births. For most of these cases, health care professional noncompliance with best practices was identified, suggesting that a substantial proportion of these cases might have been avoided.
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| 3. |
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| 4. |
- Beldie, Alina, et al.
(författare)
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Fighting stigma of mental illness in midsize European countries.
- 2012
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Ingår i: Social psychiatry and psychiatric epidemiology. - : Springer Science and Business Media LLC. - 1433-9285 .- 0933-7954. ; 47 Suppl 1, s. 1-38
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Tidskriftsartikel (refereegranskat)abstract
- Stigma is the most powerful obstacle to the development of mental health care. Numerous activities aiming to reduce the stigma of mental illness and the consequent negative discrimination of the mentally ill and their families have been conducted in Europe. Descriptions of many of these activities are not easily available, either because there are no publications that describe them, or because descriptions exist only in local languages. This supplement aims to help in overcoming this imbalance by providing a description of anti-stigma activities in 14 countries in Europe regardless of the language in which they were published and regardless whether they were previously published.
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| 5. |
- Collier, Elizabeth S, et al.
(författare)
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Identifying barriers to decreasing meat consumption and increasing acceptance of meat substitutes among Swedish consumers
- 2021
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Ingår i: Appetite. - : Academic Press. - 0195-6663 .- 1095-8304. ; 167
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Tidskriftsartikel (refereegranskat)abstract
- A key lifestyle change people could make to reduce their environmental impact is to reduce their meat consumption. However, meat is still a staple in many people's diet, and some consumers are reluctant to cut down. Meat substitutes, if accepted as adequate replacements for meat, may offer a suitable alternative without leaving consumers feeling dissatisfied. The aim of the present study was to identify psychological barriers to reducing meat consumption and increasing use of meat substitutes among Swedish consumers. Participants engaged in focus group discussions around purchasing, preparing, and consuming meat and meat substitutes. Four main themes were identified through thematic analysis: uncertainty, scepticism, health, and identity. These are discussed in relation to previous work on the barriers to reducing meat consumption. Strategies to communicate the environmental impact of meat to consumers and effect change through behavioural interventions are considered. © 2021 The Authors
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| 6. |
- Collier, Elizabeth S, et al.
(författare)
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Just a matter of taste? : Understanding rationalizations for dairy consumption and their associations with sensory expectations of plant-based milk alternatives
- 2023
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Ingår i: Food Quality and Preference. - : Elsevier BV. - 0950-3293 .- 1873-6343. ; 104
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Tidskriftsartikel (refereegranskat)abstract
- Although knowledge surrounding the obstacles omnivorous consumers face when substituting meat products with plant-based alternatives has increased dramatically, less is known about their perspectives on plant-based alternatives to dairy products. Here, these perspectives are assessed in two survey-based studies. Study 1 (N = 175) adapts an existing scale (the 4Ns of meat consumption) to dairy products in an effort to identify similarities and differences between rationalizations for meat and dairy consumption. This 16-item scale quantifies four factors (Natural, Necessary, Normal, and Nice) describing common rationalizations for meat consumption. The results revealed that the 4Ns transfer well to the dairy category, and that endorsement of dairy products as Nice was the strongest predictor of dairy consumption, relative to the other 3Ns. This is further supported by evaluation of consumers’ own qualitative descriptions of why they do or do not consume meat/dairy products, where “taste” was the most frequently used word in both categories. Study 2 replicates the relationships between dairy 4Ns scores and reported dairy consumption found in Study 1 and builds upon these results by showing that 4N score could accurately categorize consumers as frequent (N = 192) or infrequent (N = 210) consumers of plant-based milk alternatives (PBMAs). Differences in consumers’ expectations for the sensory characteristics of cow’s milk and PBMAs are identified, and the impact of rationalization (total 4N score) on the likelihood of expected sensory attribute associations is described. The role of rationalization in shaping sensory expectations and impacting dietary choices, in particular resistance to adopting PBMAs, is discussed.
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| 7. |
- Corker, Elizabeth, et al.
(författare)
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Experience of stigma and discrimination reported by people experiencing the first episode of schizophrenia and those with a first episode of depression: The FEDORA project
- 2015
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Ingår i: International Journal of Social Psychiatry. - : SAGE Publications. - 0020-7640 .- 1741-2854. ; 61:5, s. 438-445
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Tidskriftsartikel (refereegranskat)abstract
- Abstract Aim: To record and measure the nature and severity of stigma and discrimination experienced by people during a first episode of schizophrenia and those with a first episode of major depressive disorder. Methods: The Discrimination and Stigma Scale (DISC-12) was used in a cross-sectional survey to elicit service user reports of anticipated and experienced discrimination by 150 people with a diagnosis of first-episode schizophrenia and 176 with a diagnosis of first-episode major depressive disorder in seven countries (Austria, Croatia, Czech Republic, Poland, Romania, Sweden and Turkey). Results: Participants with a diagnosis of major depressive disorder reported discrimination in a greater number of life areas than those with schizophrenia, as rated by the total DISC-12 score (p = .03). With regard to specific life areas, participants with depression reported more discrimination in regard to neighbours, dating, education, marriage, religious activities, physical health and acting as a parent than participants with schizophrenia. Participants with schizophrenia reported more discrimination with regard to the police compared to participants with depression. Conclusion: Stigma and discrimination because of mental illness change in the course of the mental diseases. Future research may take a longitudinal perspective to better understand the beginnings of stigmatisation and its trajectory through the life course and to identify critical periods at which anti-stigma interventions can most effectively be applied.
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| 8. |
- Davey, Norman E., et al.
(författare)
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Discovery of short linear motif-mediated interactions through phage display of intrinsically disordered regions of the human proteome
- 2017
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Ingår i: The FEBS Journal. - : Wiley. - 1742-464X .- 1742-4658. ; 284:3, s. 485-498
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Tidskriftsartikel (refereegranskat)abstract
- The intrinsically disordered regions of eukaryotic proteomes are enriched in short linear motifs (SLiMs), which are of crucial relevance for cellular signaling and protein regulation; many mediate interactions by providing binding sites for peptide-binding domains. The vast majority of SLiMs remain to be discovered highlighting the need for experimental methods for their large-scale identification. We present a novel proteomic peptide phage display (ProP-PD) library that displays peptides representing the disordered regions of the human proteome, allowing direct large-scale interrogation of most potential binding SLiMs in the proteome. The performance of the ProP-PD library was validated through selections against SLiM-binding bait domains with distinct folds and binding preferences. The vast majority of identified binding peptides contained sequences that matched the known SLiM-binding specificities of the bait proteins. For SHANK1 PDZ, we establish a novel consensus TxF motif for its non-C-terminal ligands. The binding peptides mostly represented novel target proteins, however, several previously validated protein-protein interactions (PPIs) were also discovered. We determined the affinities between the VHS domain of GGA1 and three identified ligands to 40-130 mu M through isothermal titration calorimetry, and confirmed interactions through coimmunoprecipitation using full-length proteins. Taken together, we outline a general pipeline for the design and construction of ProP-PD libraries and the analysis of ProP-PD-derived, SLiM-based PPIs. We demonstrated the methods potential to identify low affinity motif-mediated interactions for modular domains with distinct binding preferences. The approach is a highly useful complement to the current toolbox of methods for PPI discovery.
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| 9. |
- Do, Ron, et al.
(författare)
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Common variants associated with plasma triglycerides and risk for coronary artery disease
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1345-
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Tidskriftsartikel (refereegranskat)abstract
- Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.
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| 10. |
- Ekeus, Cecilia, et al.
(författare)
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Vacuum assisted birth and risk for cerebral complications in term newborn infants : a population-based cohort study
- 2014
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Ingår i: BMC Pregnancy and Childbirth. - : Springer Science and Business Media LLC. - 1471-2393 .- 1471-2393. ; 14, s. 36-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Few studies have focused on cerebral complications among newborn infants delivered by vacuum extraction (VE). The aim of this study was to determine the risk for intracranial haemorrhage and/or cerebral dysfunction in newborn infants delivered by VE and to compare this risk with that after cesarean section in labour (CS) and spontaneous vaginal delivery, respectively. Methods: Data was obtained from Swedish national registers. In a population-based cohort from 1999 to 2010 including all singleton newborn infants delivered at term after onset of labour by VE (n = 87,150), CS (75,216) or spontaneous vaginal delivery (n = 851,347), we compared the odds for neonatal intracranial haemorrhage, traumatic or non-traumatic, convulsions or encephalopathy. Logistic regressions were used to calculate adjusted (for major risk factors and indication) odds ratios (AOR), using spontaneous vaginal delivery as reference group. Results: The rates of traumatic and non-traumatic intracranial hemorrhages were 0.8/10,000 and 3.8/1,000. VE deliveries provided 58% and 31.5% of the traumatic and non-traumatic cases, giving a ten-fold risk [AOR 10.05 (4.67-21.65)] and double risk [AOR 2.23 (1.57-3.16)], respectively. High birth weight and short mother were associated with the highest risks. Infants delivered by CS had no increased risk for intracranial hemorrhages. The risks for convulsions or encephalopathy were similar among infants delivered by VE and CS, exceeding the OR after non-assisted spontaneous vaginal delivery by two-to-three times. Conclusion: Vacuum assisted delivery is associated with increased risk for neonatal intracranial hemorrhages. Although causality could not be established in this observational study, it is important to be aware of the increased risk of intracranial hemorrhages in VE deliveries, particularly in short women and large infants. The results warrant further studies in decision making and conduct of assisted vaginal delivery.
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