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Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the a

Energy balance and obesity : what are the main drivers?

Purpose: The aim of this paper is to review the evidence of the association between energy balance and obesity. Methods: In December 2015, the International Agency for Research on Cancer (IARC), Lyon, France convened a Working Group of international experts to review the evidence regarding energy balance and obesity, with a focus on Low and Middle Income Countries (LMIC). Results: The global epide

Exploring the conditions for PhD-students to develop abilities to independently formulate research questions

Developing an ability to independently formulate research questions is an important goal in doctoral education. During a seminar in the “Docent course”, accredited by Genombrottet at Lund University, the authors behind this paper ended up in a discussion on the actual conditions for developing such ability. During the discussions, the authors, based on their own experiences, identified several con

Causal inference in obesity research

Obesity is a risk factor for a plethora of severe morbidities and premature death. Most supporting evidence comes from observational studies that are prone to chance, bias and confounding. Even data on the protective effects of weight loss from randomized controlled trials will be susceptible to confounding and bias if treatment assignment cannot be masked, which is usually the case with lifestyle

Activity and Sedentary Time 10 Years After a Successful Lifestyle Intervention : The Diabetes Prevention Program

Introduction: This study aims to determine if evidence exists for a lasting effect of the Diabetes Prevention Program (DPP) lifestyle intervention on activity levels by comparing objectively collected activity data between the DPP Outcome Study (DPPOS) cohort and adults from the National Health and Nutrition Examination Survey (NHANES; 2003-2006). Methods: Average minutes/day of light and moderate

Meniscus morphology : Does tear type matter? A narrative review with focus on relevance for osteoarthritis research

Objective: To give a narrative overview of meniscal tears with a radiologic emphasis on the morphologic type, technical considerations, and on the relevance of the type of meniscal tear in the context of osteoarthritis (OA) research. Design: Total 20 years of the PubMed database were searched for epidemiological, radiological, arthroscopic and biomechanical reports, and review articles focusing on

Acousto-microfluidics for screening of ssDNA aptamer

We demonstrate a new screening method for obtaining a prostate-specific antigen (PSA) binding aptamer based on an acoustofluidic separation (acoustophoreis) technique. Since acoustophoresis provides simultaneous washing and separation in a continuous flow mode, we efficiently obtained a PSA binding aptamer that shows high affinity without any additional washing step, which is necessary in other sc

Prevalence and incidence of doctor-diagnosed Dupuytren's disease : A population-based study

The prevalence and incidence of doctor-diagnosed Dupuytren's disease in the general population is unknown. From the healthcare register for Skåne region (population 1.3 million) in southern Sweden, we identified all residents aged 3/420 years (on 31 December 2013), who 1998 to 2013 had consulted a doctor and received the diagnosis Dupuytren's disease (International Classification of Diseases 10th

Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk

Glatiramer acetate is used therapeutically in multiple sclerosis but also known for adverse effects including elevated coronary artery disease (CAD) risk. The mechanisms underlying the cardiovascular side effects of the medication are unclear. Here, we made use of the chromosomal variation in the genes that are known to be affected by glatiramer treatment. Focusing on genes and gene products repor

Evidence-based prioritisation and enrichment of genes interacting with metformin in type 2 diabetes

Aims/hypothesis: There is an extensive body of literature suggesting the involvement of multiple loci in regulating the action of metformin; most findings lack replication, without which distinguishing true-positive from false-positive findings is difficult. To address this, we undertook evidence-based, multiple data integration to determine the validity of published evidence. Methods: We (1) buil

Fall-related mortality in southern Sweden : a multiple cause of death analysis, 1998-2014

OBJECTIVES: To investigate temporal trend in fall mortality among adults (aged ≥20 years) in southern Sweden using multiple cause of death data.METHODS: We examined all death certificates (DCs, n=2 01 488) in adults recorded in the Skåne region during 1998-2014. We identified all fall deaths using International Statistical Classification of Diseases (ICD)-10 codes (W00-W19) and calculated the mort

Self-rated health and social capital in Iraqi immigrants to Sweden : The MEDIM population-based study

OBJECTIVES: Poor self-rated health is an estimator of quality of life and a predictor of mortality seldom studied in immigrant populations. This work aimed to study self-rated health in relation to social capital, socioeconomic status, lifestyle and comorbidity in immigrants from Iraq - one of the largest non-European immigrant group in Sweden today - and to compare it with the self-rated health o

Post-load glucose subgroups and associated metabolic traits in individuals with type 2 diabetes : An IMI-DIRECT study

AIM: Subclasses of different glycaemic disturbances could explain the variation in characteristics of individuals with type 2 diabetes (T2D). We aimed to examine the association between subgroups based on their glucose curves during a five-point mixed-meal tolerance test (MMT) and metabolic traits at baseline and glycaemic deterioration in individuals with T2D. METHODS: The study included 787 indi

Detection of inflammatory biomarkers associated with postural orthostatic tachycardia syndrome: insights from the SYSTEMA cohort

Background: Postural Orthostatic Tachycardia Syndrome (POTS) is a cardiovascular dysautonomic condition affecting predominantly young women. POTS is defined as the presence of chronic symptoms of orthostatic intolerance associated with an increased heart rate ≥30 bpm, or heart rate exceeding 120 bpm, within 10 minutes of standing or head-up tilt in the absence of orthostatic hypotension. The etio

Prediagnostic serum selenium levels in relation to breast cancer survival and tumor characteristics

Women with lower levels of serum selenium (Se) may have a worse survival in breast cancer than women with higher levels, despite no difference in incidence of the disease. Our study was conducted to test whether Se is associated with the aggressiveness of breast tumors. Both the risk of having a tumor characteristic associated with worse prognosis, as well as the overall and breast cancer-specific

A facile one-stage treatment of critical bone defects using a calcium sulfate/hydroxyapatite biomaterial providing spatiotemporal delivery of bone morphogenic protein-2 and zoledronic acid

Bone morphogenic proteins (BMPs) are the only true osteoinductive molecules. Despite being tremendously potent, their clinical use has been limited for reasons including supraphysiological doses, suboptimal delivery systems, and the pro-osteoclast effect of BMPs. Efforts to achieve spatially controlled bone formation using BMPs are being made. We demonstrate that a carrier consisting of a powder o

Altered Acylcarnitine Metabolism Is Associated With an Increased Risk of Atrial Fibrillation

Background Atrial fibrillation (AF) is the most common cardiac arrhythmia, but the pathogenesis is not completely understood. The application of metabolomics could help in discovering new metabolic pathways involved in the development of the disease. Methods and Results We measured 112 baseline fasting metabolites of 3770 participants in the Malmö Diet and Cancer Study; these participants were fre

Drug use disorder and risk of incident and fatal breast cancer : a nationwide epidemiological study

Purpose: Breast cancer is one of the most common cancer forms in women and it is often detected by screening. However, women with drug use disorders (DUD) are less likely to be reached by screening programs. In this study, we aimed to investigate breast cancer incidence, mortality and stage at time of diagnosis among women with DUD compared to the general female population in Sweden. Methods: We p

Circulating bioactive adrenomedullin as a marker of sepsis, septic shock and critical illness

Background: Biomarkers can be of help to understand critical illness and to identify and stratify sepsis. Adrenomedullin is a vasoactive hormone, with reported prognostic and potentially therapeutic value in sepsis. The primary aim of this study was to investigate the association of circulating bioactive adrenomedullin (bio-ADM) levels at intensive care unit (ICU) admission with mortality in sepsi