| 1. |
- Mavaddat, Nasim, et al.
(författare)
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Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
- 2015
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 1460-2105 .- 0027-8874. ; 107:5, s. 036-036
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Tidskriftsartikel (refereegranskat)abstract
- Background: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.
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| 2. |
- Bremer, Hanna, et al.
(författare)
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Serum C-reactive protein concentrations in Nova Scotia Duck Tolling Retrievers with immune-mediated rheumatic disease
- 2017
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Ingår i: Acta Veterinaria Scandinavica. - : Springer Science and Business Media LLC. - 0044-605X .- 1751-0147. ; 59
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Tidskriftsartikel (refereegranskat)abstract
- Nova Scotia Duck Tolling Retrievers (NSDTRs) are a dog breed often affected by immune-mediated rheumatic disease (IMRD), a disorder characterised by chronic stiffness and joint pain. Most, but not all, dogs with IMRD, have antinuclear antibodies (ANA), which are also commonly present in the autoimmune disease systemic lupus erythematosus (SLE). The clinical and diagnostic findings of IMRD indicate that it is an SLE-related disorder. C-reactive protein (CRP), an acute phase protein, is a quantitative marker of inflammation for many diseases and is used for diagnosing and monitoring systemic inflammation in both humans and dogs. However, in human SLE, CRP concentrations are often elevated but correlate poorly with disease activity; they can be low in individual patients with active disease. The aim of the study was to investigate CRP in a group of NSDTRs with the SLE-related disorder IMRD. The hypothesis was that CRP concentrations would be increased in dogs with IMRD compared to healthy dogs, but that the increase would be mild. Serum CRP concentrations were measured in 18 IMRD-affected NSDTRs and 19 healthy control NSDTRs using two different canine-specific CRP assays. Dogs with IMRD and ANA had higher CRP concentrations than the control dogs, but the concentrations were below the clinical decision limit for systemic inflammation for most of the IMRD dogs. These results indicate that CRP concentrations were increased in dogs with IMRD and ANA, but the increase was mild, similar to what has been observed in human SLE.
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| 3. |
- Eriksson, Mats Anders, et al.
(författare)
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Rare copy number variants are common in young children with autism spectrum disorder
- 2015
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 104:6, s. 610-618
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Tidskriftsartikel (refereegranskat)abstract
- AimSeveral studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. MethodsWe performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54months of age. ResultsPathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. ConclusionOur results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole-exome and whole-genome sequencing technologies in clinical genetic testing.
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| 4. |
- Ginter, Anna, et al.
(författare)
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Phylogenetic affinities of Myrioneuron and Cyanoneuron, generic limits of the tribe Argostemmateae and description of a new Asian tribe, Cyanoneuroneae (Rubiaceae)
- 2015
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Ingår i: Taxon. - : Wiley. - 0040-0262 .- 1996-8175. ; 64:2, s. 286-298
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Tidskriftsartikel (refereegranskat)abstract
- Argostemmateae (Rubiaceae, subfam. Rubioideae) are a mostly tropical Asian group of about 200 species currently classified in four morphologically distinct genera (Argostemma, Mouretia, Mycetia, Neohymenopogon). The monophyly of the tribe and Mycetia is strongly supported by molecular data, however, the tropical Asian genus Myrioneuron, traditionally associated with Mycetia based on its berry fruits, has not previously been investigated. The Bornean and Sulawesian genus Cyanoneuron, described based on the species of Myrioneuron with drupaceous fruits, had not been sequenced. Therefore, the phylogenetic positions of Cyanoneuron and Myrioneuron within Rubiaceae and their generic status have yet to be assessed with molecular data. These genera have tentatively been placed in tribe Spermacoceae (Rubioideae). We reconstructed a robust phylogeny of Rubioideae with sequence data from five plastid regions of 176 accessions and using the Bayesian Markov chain Monte Carlo and parsimony methods. Once the positions of Cyanoneuron and Myrioneuron were revealed, a robust phylogeny of the Spermacoceae alliance was reconstructed with the combined plastid and nuclear data (nrETS, nrITS) from 61 accessions to reassess its tribal limits. Mycetia and Myrioneuron are non-monophyletic and intermixed, and formed a well-supported clade diagnosed by berry fruits. We formally transfer Myrioneuron to Mycetia (older name), and present nine new combinations in the latter genus. Cyanoneuron was resolved with high support as monophyletic, and appears to be closely related to the Chinese monogeneric tribes Foonchewieae and Dunnieae. A new tribe Cyanoneuroneae is described to accommodate Cyanoneuron. This tribe is morphologically distinct from related tribes by its stipules apically divided into multiple linear segments, condensed-cymose inflorescences and drupe-like fruits with numerous small seeds. A new key to the genera of Argostemmateae is provided.
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| 5. |
- Israelsson, Johan, et al.
(författare)
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Factors associated with health-related quality of life among cardiac arrest survivors treated with an implantable cardioverter-defibrillator
- 2018
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Ingår i: Resuscitation. - : Elsevier. - 0300-9572 .- 1873-1570. ; 132, s. 78-84
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Tidskriftsartikel (refereegranskat)abstract
- AimTo explore factors associated with health-related quality of life (HRQoL) among cardiac arrest (CA) survivors treated with an implantable cardioverter-defibrillator (ICD) in relation to gender, and to compare their HRQoL with a general population.MethodsThis cross-sectional study included 990 adults treated with an ICD after suffering CA. All participants received a questionnaire including demographics, comorbidities and instruments to measure HRQoL (EQ-5D-3L and HADS), ICD-related concerns (ICDC), perceived control (CAS), and type D personality (DS-14). HRQoL (EQ-5D-3L) was compared to a general Swedish population, matched for age and gender. Linear regression analyses were used to explore factors associated with HRQoL.ResultsThe CA survivors reported better HRQoL in EQ index and less pain/discomfort compared to the general population (p < 0.001). In contrast, they reported more problems in mobility and usual activities (p < 0.01). Problems with anxiety and depression were reported by 15.5% and 7.4% respectively. The following factors were independently associated with all aspects of worse HRQoL: being unemployed, suffering more comorbidity, perceiving less control, and having a type D personality. Further, being female and suffering ICD-related concerns were independently associated with worse HRQoL in three of the four final regression models.ConclusionsThis extensive population-based study showed that most CA survivors living with an ICD rate their HRQoL as acceptable. In addition, their HRQoL is similar to a general population. Women reported worse HRQoL compared to men. Several factors associated with HRQoL were identified, and might be used when screening patients for health problems and when developing health promoting interventions.
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| 6. |
- Israelsson, Johan, et al.
(författare)
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Factors associated with health status and psychological distress among cardiac arrest (CA) survivors living with an implantable cardioverter-defibrillator (ICD)
- 2017
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Konferensbidrag (refereegranskat)abstract
- Background: The aim was to explore factors associated with health status and psychological distress among ICD-implanted CA survivors. Materials and methods: This cross-sectional study included all eligible adult ICD-implanted CA survivors in the Swedish ICD and Pacemaker Registry, 2011-2012. Health status and psychological distress were measured with the EQ-5D-5L (EQ index & EQ VAS) and the Hospital Anxiety and Depression Scale (HADS) respectively. Linear regression analyses were used to explore associations between explanatory- and outcome variables.Results: In total, 990 patients (22% women) with a median age of 68 (q1-q3=60-74) were included. Time since the CA varied between 6 months to 23 years. The median values for EQ index and EQ VAS were 0.85 (q1-q3=0.73-1.00) and 80 (q1-q3=69-90) respectively. Gender, comorbidity, receiving ICD-shock/-s, perceived control and personality were independently associated with health status. The final models explained 25% (EQ index) and 30% (EQ VAS) of the total variance (according to the R2 values). The median values for HADS Anxiety and HADS Depression were 3 (q1-q3=1-6) and 2 (q1-q3=1-4) respectively. Age, gender, comorbidity, living alone, ICD-related concerns, perceived control and personality were independently associated with psychological distress. The final models explained 51% (HADS Anxiety) and 44% (HADS Depression) of the total variance.Conclusion: Age, gender, living alone, comorbidity, receiving ICD-shock/-s, ICD-related concerns, perceived control and personality were associated with health status and/or psychological distress. These results contribute to a better understanding of the life situation among CA survivors, and may be important to develop individualized post CA care.
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| 7. |
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| 8. |
- Jerve, Anna, et al.
(författare)
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Morphology and histology of acanthodian fin spines from the late Silurian Ramsåsa E locality, Skåne, Sweden
- 2017
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Ingår i: Palaeontologia Electronica. - : COQUINA PRESS. - 1935-3952 .- 1094-8074. ; 20:3
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Tidskriftsartikel (refereegranskat)abstract
- Comparisons of acanthodians to extant gnathostomes are often hampered by the paucity of mineralized structures in their endoskeleton, which limits the potential preservation of phylogenetically informative traits. Fin spines, mineralized dermal structures that sit anterior to fins, are found on both stem-and crown-group gnathostomes, and represent an additional potential source of comparative data for studying acanthodian relationships with the other groups of early gnathostomes. An assemblage of isolated acanthodian fin spines from the late Silurian Ramsasa site E locality (southern Sweden) has been reconstructed in 3D using propagation phase contrast synchrotron X-ray microtomography (PPC-SR mu CT). The aim is to provide morphological and taxo-nomical affinities for the spines by combining morphology and histology with the taxo-nomical framework previously established for the site mainly based on isolated scales. The high-resolution scans also enable investigations of the composition and growth of acanthodian fin spines when compared to similar studies of extinct and extant gnathostomes. In total, seven fin spine morphotypes that have affinities to both Climatiidae Berg 1940 and Ischnacanthiformes Berg 1940 are described. The majority are interpreted as median fin spines, but three possible paired spines are also identified. The spines display differences in their compositions, but generally agree with that presented for climatiids and ischnacanthiforms in previous studies. Their inferred growth modes appear to be more similar to those of fossil and extant chondrichthyan fin spines than to those described from placoderms and stem-osteichthyans, which is congruent with the emerging view of acanthodians as stem-chondrichthyans.
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| 9. |
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| 10. |
- Lundgren, Markus, et al.
(författare)
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Analgesic antipyretic use among young children in the TEDDY study : No association with islet autoimmunity
- 2017
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Ingår i: BMC Pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: The use of analgesic antipyretics (ANAP) in children have long been a matter of controversy. Data on their practical use on an individual level has, however, been scarce. There are indications of possible effects on glucose homeostasis and immune function related to the use of ANAP. The aim of this study was to analyze patterns of analgesic antipyretic use across the clinical centers of The Environmental Determinants of Diabetes in the Young (TEDDY) prospective cohort study and test if ANAP use was a risk factor for islet autoimmunity. Methods: Data were collected for 8542 children in the first 2.5 years of life. Incidence was analyzed using logistic regression with country and first child status as independent variables. Holm's procedure was used to adjust for multiplicity of intercountry comparisons. Time to autoantibody seroconversion was analyzed using a Cox proportional hazards model with cumulative analgesic use as primary time dependent covariate of interest. For each categorization, a generalized estimating equation (GEE) approach was used. Results: Higher prevalence of ANAP use was found in the U.S. (95.7%) and Sweden (94.8%) compared to Finland (78.1%) and Germany (80.2%). First-born children were more commonly given acetaminophen (OR 1.26; 95% CI 1.07, 1.49; p = 0.007) but less commonly Non-Steroidal Anti-inflammatory Drugs (NSAID) (OR 0.86; 95% CI 0.78, 0.95; p = 0.002). Acetaminophen and NSAID use in the absence of fever and infection was more prevalent in the U.S. (40.4%; 26.3% of doses) compared to Sweden, Finland and Germany (p < 0.001). Acetaminophen or NSAID use before age 2.5 years did not predict development of islet autoimmunity by age 6 years (HR 1.02, 95% CI 0.99-1.09; p = 0.27). In a sub-analysis, acetaminophen use in children with fever weakly predicted development of islet autoimmunity by age 3 years (HR 1.05; 95% CI 1.01-1.09; p = 0.024). Conclusions: ANAP use in young children is not a risk factor for seroconversion by age 6 years. Use of ANAP is widespread in young children, and significantly higher in the U.S. compared to other study sites, where use is common also in absence of fever and infection.
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