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Improved haplotype resolution of highly duplicated MHC genes in a long-read genome assembly using MiSeq amplicons

Long-read sequencing offers a great improvement in the assembly of complex genomic regions, such as the major histocompatibility complex (MHC) region, which can contain both tandemly duplicated MHC genes (paralogs) and high repeat content. The MHC genes have expanded in passerine birds, resulting in numerous MHC paralogs, with relatively high sequence similarity, making the assembly of the MHC reg

The relationship between familial-genetic risk and pharmacological treatment in a Swedish national sample of patients with major depression, bipolar disorder, and schizophrenia

Using Swedish registers, we examine whether the prescription of and the response to antidepressants (AD), mood stabilizers (MS), and antipsychotics (AP) in the treatment of, respectively, major depression (MD), bipolar disorder (BD), and schizophrenia (SZ), are influenced by familial-genetic risk. We examined individuals born in Sweden 1960–1995 with a first diagnosis of MD (n = 257,177), BD (n =

Divorce and risk of suicide attempt : A Swedish national study

Background Prior research has reported an association between divorce and suicide attempt. We aimed to clarify this complex relationship, considering sex differences, temporal factors, and underlying etiologic pathways. Methods We used Swedish longitudinal national registry data for a cohort born 1960-1990 that was registered as married between 1978 and 2018 (N = 1 601 075). We used Cox proportion

Risk of suicidal behavior as a function of alcohol use disorder typologies : A Swedish population-based study

Background and aims: Alcohol use disorder (AUD) is one of the strongest predictors of suicidal behavior. Here, we measured risk of suicide attempt and death as a function of AUD typologies. Design: We used AUD typologies from previous latent class analysis: (i) externalizing subtype (characterized by externalizing symptomatology and early age of onset; individuals in this group have lower educatio

Heart failure patients without echocardiography are more commonly diagnosed in hospital care and are associated with higher mortality compared to primary care

Objective: This Swedish study aimed to assess the prevalence, associated clinical factors, and mortality rates of heart failure patients diagnosed without echocardiograms in both hospital and primary care settings. Design: We conducted a retrospective population-based study using data from the Region Halland healthcare database in Sweden covering 330,000 residents. Subjects: From 2013–2019, 3,903

Male infertility

Clinical infertility is the inability of a couple to conceive after 12 months of trying. Male factors are estimated to contribute to 30–50% of cases of infertility. Infertility or reduced fertility can result from testicular dysfunction, endocrinopathies, lifestyle factors (such as tobacco and obesity), congenital anatomical factors, gonadotoxic exposures and ageing, among others. The evaluation o

Parental views and the key role of nurses for high vaccine acceptance in Sweden – a focus group study

Background: In Sweden, vaccine uptake is exceptionally high due to an efficient child immunization program. More than 97% of Swedish children were vaccinated at child health care centers (CHCs) according to the schedule at 2 years of age in 2021. From the age of 6 years, vaccinations are given within the school health care. Maintaining high vaccination coverage over time is one of the central moti

Contagious Transmission in a Swedish National Sample of Alcohol Use Disorders as a Function of Geographical Proximity Among Siblings and Propinquity-of-Rearing Defined Acquaintances

Objective: The purpose of this study was to determine whether alcohol use disorder (AUD) can be transmitted contagiously in siblings and likely acquaintances growing up close to one another (Propinquity-of-Rearing Defined Acquaintances [PRDAs]). Method: PRDAs were pairs of same-age subjects growing up within 1 km of each other and sharing the same school class, where one of whom (PRDA1) was first

Evaporation of serum after long-term biobank storage : A chemical analysis of maternal serum from a large Danish pregnancy screening registry

Background Relying on freezer stored biospecimens is preferred in epidemiolocal studies exploring environmental pregnancy exposures and later offspring health. Storage duration may increase the pre-analytical variability, potentially adding measurement uncertainty. We investigated evaporation of maternal serum after long-term biobank storage using ions (sodium, Na+; chloride, Cl-) recognized for s

Ontology-based integration and querying of heterogeneous rare disease data sources — POLVAS perspective

The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Such integration of national registry data, which requires harmonization of the heterogeneous data sets into a unified view, is facilitated in the Europ

Heart failure in first- and second-generation immigrants aged 18–54 years in Sweden : A national study

Purpose: We aimed at analysing the risk of congestive heart failure (CHF) among first- and second-generation immigrants in younger age groups. Methods: All individuals aged 18–54 years, n = 3 973 454 in the first-generation study and n = 3 817 560 in the second-generation study, were included. CHF was defined as at least one registered diagnosis in the National Patient Register between 1 January 1

Age at onset as an index of genetic heterogeneity in major psychiatric and substance use disorders

Background Robust clinical indices of etiologic heterogeneity for psychiatric disorders are rare. We investigate whether age at onset (AAO) reflects genetic heterogeneity, utilizing Genetic Risk Ratios (GRR) derived from Family Genetic Risk Scores (FGRS). Methods We examined, in individuals born in Sweden 1940-2003, whether AAO for five primary disorders - drug use disorder (DUD), alcohol use diso

Lower circulating mitochondrial DNA and increased mitokines suggest significant mitochondrial dysfunction in systemic lupus erythematosus with renal involvement

BACKGROUND: SLE is associated with significant morbidity, especially in the case of renal involvement. Mitochondrial dysfunction plays a significant role in SLE and may be assessed by measuring mitochondrial DNA (mtDNA) and cytokines reflecting mitochondrial stress (mitokines). Circulating mtDNA is a promising biomarker in SLE and appears to be reduced in severe SLE. However, measuring circulating

Ma nagement a nd outcome in foreign-born vs native-born patients with myocardial infarction in Sweden

Aims Previous studies on disparities in healthcare and outcomes have shown conflicting results. The aim of this study was to assess differences in baseline characteristics, management, and outcomes in myocardial infarction (MI) patients, by country of birth. Met hods a nd results In total, 194 259 MI patients (64% male, 15% foreign-born) from the nationwide SWEDEHEART (The Swedish Web-system for E

Using Generative AI in Higher Education : Redefining Teaching and Learning

The rapid emergence of Generative Artificial Intelligence (GenAI) presents higher education with unprecedented opportunities to augment and enhance learning. As educators, learners, technologists and institutional leaders, we find ourselves navigating uncharted territory. How can we evaluate, integrate and govern these rapidly evolving technologies responsibly, so that they enrich rather than disp

Excitement is not the only experience

Expectations of what constitutes a positive customer experience have changed over time. Developments in technology and digital services have enabled new kinds of customer experience. As have new store formats and diversified retail offerings. Regardless of the form it has taken, customer experience has always been of paramount importance to retail managers. And it continues to be so. Over 50% of p

Messy customer journey self-mapping

The new retail landscape is complex. New types of touchpoints and new store formats mean messy, non-linear customer journeys with multiple online and offline touchpoints. If we want to understand these journeys, and what value customers derive from new and innovative touchpoints, we must use methods that allow them to explain their own complex customer journeys in all their messy glory!

The modified Medical Research Council scale misclassifies exertional breathlessness among people referred for exercise testing

BACKGROUND: Exertional breathlessness is a major symptom in cardiorespiratory disease and is often assessed using the modified Medical Research Council (mMRC) questionnaire. The mMRC might underestimate exertional breathlessness in people with impaired exercise capacity who have reduced their physical activity to avoid the symptom. We aimed to evaluate the ability of mMRC to detect abnormally high