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Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using sequence data from >170,000 individuals from multiple ancestries: 97,493 European, 30,025 South Asian, 16,507 African,

Circulating lipids and breast cancer prognosis in the Malmö diet and cancer study

Purpose: Examine the association between circulating lipids and breast cancer outcomes in patients enrolled in the Malmö Diet and Cancer Study (MDCS). Patients and methods: Circulating lipid levels were measured in blood sampled upon enrollment in the female MDCS cohort (N = 17,035). We identified all MDCS participants with incident invasive breast cancer diagnosed between 1991 and 2014. Follow-up

Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study

Background Von Willebrand factor (VWF) and coagulation factor VIII (FVIII) plasma levels are associated with increased risk for venous thromboembolism (VTE). Objectives This study aimed to determine the thrombotic risk of rare and common variants of 27 genes linked to VWF or FVIII plasma levels in genome-wide association studies. Methods Exon sequences of 27 genes linked to plasma levels of VWF or

Diabetic status and the performances of creatinine- and cystatin C–based eGFR equations

Background. The estimation of glomerular filtration rate (GFR) is one tool to detect renal disease. The most used biomarker remains serum creatinine and the European Kidney Function Consortium (EKFCcrea ) equation is the most validated in Europe. More recently, cystatin C has been proposed as a biomarker. We studied the performances of the EKFC equations in a large cohort of subjects according to

A pilot study of AI-assisted reading of prostate MRI in Organized Prostate Cancer Testing

Objectives: To evaluate the feasibility of AI-assisted reading of prostate magnetic resonance imaging (MRI) in Organized Prostate cancer Testing (OPT). Methods: Retrospective cohort study including 57 men with elevated prostate-specific antigen (PSA) levels ≥3 µg/L that performed bi-parametric MRI in OPT. The results of a CE-marked deep learning (DL) algorithm for prostate MRI lesion detection wer

Mammographic features differ with body composition in women with breast cancer

Objectives: There are several breast cancer (BC) risk factors—many related to body composition, hormonal status, and fertility patterns. However, it is not known if risk factors in healthy women are associated with specific mammographic features at the time of BC diagnosis. Our aim was to assess the potential association between pre-diagnostic body composition and mammographic features in the diag

The impact of disease activity and interferon-α on the nervous system in systemic lupus erythematosus

BACKGROUND: Systemic lupus erythematosus (SLE) patients, with or without neuropsychiatric SLE (NPSLE), exhibit greater neuronal impairment compared to healthy individuals in terms of neuronal damage, magnet resonance imaging (MRI) changes and cognitive dysfunction. Interferon (IFN)-α is a key immunopathogenic driver of SLE, being persistently overexpressed in the majority of patients. This longitu

Single-cell multiomics of human fetal hematopoiesis define a developmental-specific population and a fetal signature

Knowledge of human fetal blood development and how it differs from adult blood is highly relevant to our understanding of congenital blood and immune disorders and childhood leukemia, of which the latter can originate in utero. Blood formation occurs in waves that overlap in time and space, adding to heterogeneity, which necessitates single-cell approaches. Here, a combined single-cell immunopheno

The density of anionic lipids modulates the adsorption of α-Synuclein onto lipid membranes

α-Synuclein is an intrinsically disordered presynaptic protein associated with Parkinson's disease. The physiological role of α-Synuclein is not fully understood, but the protein is known to interact with lipid membranes. We here study how membrane charge affects the adsorption of α-Synuclein to (i) supported lipid bilayers and (ii) small unilamellar vesicles with varying amounts of anionic lipids

Analysis of genetic variant associated with heart failure mortality implicates thymic stromal lymphopoietin as mediator of strain-induced myocardial fibroblast-mast cell crosstalk and fibrosis

Heart failure (HF) is a leading cause of death and disability globally. Heritable factors and the extent and pattern of myocardial fibrosis are important determinants of outcomes in patients with HF. In a genome-wide association study of mortality in HF, we recently identified a genetic polymorphism on chromosome 5q22 associated with HF mortality. Here, we sought to study the mechanisms by which t

HIV-2 mediated effects on target and bystander cells induce plasma proteome remodeling

Despite low or undetectable plasma viral load, people living with HIV-2 (PLWH2) typically progress toward AIDS. The driving forces behind HIV-2 disease progression and the role of viremia are still not known, but low-level replication in tissues is believed to play a role. To investigate the impact of viremic and aviremic HIV-2 infection on target and bystander cell pathology, we used data-indepen

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Recenserad bok: Kurator inom hälso- och sjukvård (upplaga 3)Författare: Annika Lundin, Inger Benkel, Gerd de Neergaard, Britt-MarieJohansson och Charlotta ÖhrlingFörlag: Studentlitteratur, Lund, 2019

Add-on pramipexole for anhedonic depression : study protocol for a randomised controlled trial and open-label follow-up in Lund, Sweden

INTRODUCTION: Many depressed patients do not achieve remission with available treatments. Anhedonia is a common residual symptom associated with treatment resistance as well as low function and quality of life. There are currently no specific and effective treatments for anhedonia. Some trials have shown that dopamine agonist pramipexole is efficacious for treating depression, but more data is nee

Effect of Different In2O3(111) Surface Terminations on CO2 Adsorption

In2O3-based catalysts have shown high activity and selectivity for CO2 hydrogenation to methanol; however, the origin of the high performance of In2O3 is still unclear. To elucidate the initial steps of CO2 hydrogenation over In2O3, we have combined X-ray photoelectron spectroscopy and density functional theory calculations to study the adsorption of CO2 on the In2O3(111) crystalline surface with

Light, activity, and sleep: Design and usability evaluations of a web-based course supporting changes to routines and the home

While research indicates that indoor lighting, exposure to daylight, physical activity, and sleep interact to influence functioning, mood, and daily rhythm, strategies are needed to support behavioral changes among older adults who often spend more time at home after retirement. The objective was to design a web-based course to encourage behavior change related to light, activity, and sleep. GrounWhile research indicates that indoor lighting, exposure to daylight, physical activity, and sleep interact to influence functioning, mood, and daily rhythm, strategies are needed to support behavioral changes among older adults who often spend more time at home after retirement. The objective was to design a web-based course to encourage behavior change related to light, activity, and sleep. Groun

Cooperative Transcription Factor Induction Mediates Hemogenic Reprogramming

During development, hematopoietic stem and progenitor cells (HSPCs) arise from specialized endothelial cells by a process termed endothelial-to-hematopoietic transition (EHT). The genetic program driving human HSPC emergence remains largely unknown. We previously reported that the generation of hemogenic precursor cells from mouse fibroblasts recapitulates developmental hematopoiesis. Here, we dem

Intake of different types of red meat, poultry, and fish and incident colorectal cancer in women and men: results from the Malmö Diet and Cancer Study.

Background : Colorectal cancer (CRC) is considered one of the most common forms of cancer in the Western world. High intake of red and processed meat is considered to increase CRC development. Objective : This study examined associations between intake of red meats, poultry, and fish and incident CRC, and if weight status modifies the associations. Design : In the Malmö Diet and Cancer Study, diet