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Objective: Most methods to detect copy number variation (CNV) have high false positive rates, especially for small CNVs and in real-life samples from clinical studies. In this study, we explored a novel scatterplot-based method to detect CNVs in microarray samples. Methods: Illumina SNP microarray data from 13,254 individuals were analyzed with scatterplots and by PennCNV. The data were analyzed w
Objective: Using Swedish nationwide registry data, we investigated the contribution of genetic and environmental risk factors to the etiology of alcohol use disorder (AUD) by extended twin pedigree modeling. Method: AUD was defined using public inpatient, outpatient, prescription, and criminal records. Three-generational pedigrees were selected for index individuals born between 1980 and 1990, obt
Background Despite a large descriptive literature linking creativity and risk for psychiatric illness, the magnitude and specificity of this relationship remain controversial. Methods We examined, in 1 137 354 native Swedes with one of 59 3-digit official and objective occupational codes in managerial and educated classes, their familial genetic risk score (FGRS) for ten major disorders, calculate
Spatial transcriptomics (ST) maps RNA level patterns within a tissue. This technology has not been previously applied to human placental tissue. We demonstrate analysis of human placental samples with ST. Unsupervised clustering revealed that distinct RNA patterns were found corresponding to different morphological structures. Additionally, when focusing upon terminal villi and hemoglobin associat
Data standards for quality registries should be evidence-based and follow guideline recommendations. To optimally monitor quality of care, not only patient-level variables, but also centre-level variables need to be included. Here we describe the development of variables to audit the structure and processes in cardiac rehabilitation for patients after myocardial infarction, and the resulting data
Migratoriness in birds is evolutionary labile, with many examples of increasing or decreasing migration distances on the timescale of modern ornithology. In contrast, shifts of migration to more nearby wintering grounds seem to be a slow process. We examine the history of how Palearctic migratory landbirds have expanded their wintering ranges to include both tropical Africa and Asia, a process tha
Background and aims: Gestational diabetes is more common in many first-generation immigrant women in Europe and other Western countries. Less is known about second-generation immigrant women; such knowledge is needed to understand generational influences on diabetes risk. We aimed to study second-generation immigrant women regarding the presence of all types of diabetes during pregnancy. Methods a
Chronological age is an important independent predictor of cardiovascular events. Although the cumulative effect of cardiovascular risk factors over time partly explains this relationship, accumulating evidence suggests this is a simplistic interpretation of a more complex concept. With advancing age slowly progressive changes can be seen affecting the structure and function of large and small ves
The Great Recession hit Spain deteriorating the living conditions of many Spanish people, increasing the prevalence of several chronic health issues, including obesity, and affecting health inequalities. We analyse the impact of this economic crisis on body mass index (BMI) disparities in Spain, from two perspectives: the socioeconomic and the territorial, through the application of an intersectio
IntroductionNine in ten of the world’s 1.74 million adolescents living with human immunodeficiency virus (ALHIV) live in Sub-Saharan Africa. Suboptimal adherence to antiretroviral therapy (ART) and poor viral suppression are important problems among adolescents. To guide intervention efforts in this regard, this review presented pooled estimates on the prevalence of adherence and how it is affecte
PURPOSE: To investigate acute and long-term changes in hormonal and inflammatory biomarkers in nonambulant children with cerebral palsy in response to dynamic standing exercise.METHODS: Fourteen children with severe cerebral palsy were recruited. Anthropometrics and body composition measures were obtained. Physical activity levels before the study were assessed using hip-worn accelerometry. All ch
Many retail chains believe that the personal service encounter is the solution to declining sales figures. Via a large-scale study of Swedish fashion consumers, we demonstrate, that this may not necessarily be the case. We argue that retailers can potentially save money and convert more customers by providing a more automated journey, which includes self-service technologies, for some customers, a
Non-typeable Haemophilus influenzae (NTHi) is a Gram-negative human pathogen that causes a wide range of airway diseases. NTHi has a plethora of mechanisms to colonize while evading the host immune system for the establishment of infection. We previously showed that the outer membrane protein P5 contributes to bacterial serum resistance by the recruitment of complement regulators. Here, we report
Fibromyalgia is a complex disease of unclear etiology that is complicated by difficulties in diagnosis, treatment, and clinical heterogeneity. To clarify this etiology, healthcare-based data are leveraged to assess the influences on fibromyalgia in several domains. Prevalence is less than 1% of females in our population register data, and about 1/10th that in males. Fibromyalgia often presents wit
BACKGROUND: Humans differ in the metabolism of the neurotoxicant methyl mercury (MeHg). This variation may be partially due to variation in genes encoding the transcription factor Nuclear factor E2-related factor 2 (NRF2) and its negative regulator Kelch-like ECH-Associated Protein 1 (KEAP1), which regulate glutathione and related transporter and antioxidant proteins that play a role in the metabo
We investigate how selection of psychiatric cases by phenotypic criteria can alter the strength and specificity of their genetic risk by examining samples from national Swedish registries for five disorders: major depression (MD, N = 158,557), drug use disorder (DUD, N = 69,841), bipolar disorder (BD, N = 13,530)) ADHD (N = 54,996) and schizophrenia (N = 11,227)). We maximized the family genetic r
Vascular aging (VA) is a reflection of biological aging in general and subject to many influences during the life course. It involves all aspects of the cardiovascular system but is most visible in the age-related increased arterial stiffness of large elastic arteries, such as the aorta. It is possible to measure this process by pulse wave velocity (PWV). Several studies have now documented that i
Sexual harassment (SH) and other forms of mistreatment continue to be a significant problem at workplaces, leading to negative health and work-related outcomes. Previous studies have mainly examined SH and other types of workplace harassment separately. In this study we investigated whether harassment related to any of the seven Swedish legal grounds for discrimination (sex, transgender identity o
