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High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus

OBJECTIVES: To investigate associations between a high genetic disease risk and disease severity in patients with systemic lupus erythematosus (SLE).METHODS: Patients with SLE (n=1001, discovery cohort and n=5524, replication cohort) and healthy controls (n=2802 and n=9859) were genotyped using a 200K Immunochip single nucleotide polymorphism array. A genetic risk score (GRS) was assigned to each

On norovirus outbreaks and transmission in hospitals

Abstract Noroviruses are now the leading cause of gastroenteritis worldwide. Noroviruses are effectively transmitted due to a low infectious dose, viral shedding in high concentrations, environmental stability, and they induce only a limited immunity after infection. Especially, the norovirus variants of genotype II.4 (GII.4) have seemed greatly adapted for pandemic spread. The high infectivity of

Empowerment and enablement and their associations with change in health-related quality of life after a supported osteoarthritis self-management programme - a prospective observational study

BACKGROUND: Osteoarthritis is a leading cause of disability worldwide. Current treatment supports coping strategies to improve health-related quality of life (HRQoL). The need to predict response to treatment has been raised to personalise care. This study aims to examine change in HRQoL from baseline to three and nine months follow-up after participating in a Supported Osteoarthritis Self-Managem

Genetic Moderation of the Association of β-Amyloid With Cognition and MRI Brain Structure in Alzheimer Disease

Background and Objectives: There is considerable heterogeneity in the association between increasing β-amyloid (Aβ) pathology and early cognitive dysfunction in preclinical Alzheimer disease (AD). At this stage, some individuals show no signs of cognitive dysfunction, while others show clear signs of decline. The factors explaining this heterogeneity are particularly important for understanding pr

Ophthalmologic Outcome of Extremely Preterm Infants at 6.5 Years of Age : Extremely Preterm Infants in Sweden Study (EXPRESS)

Importance: This follow-up study of extremely preterm (EPT) children (<27 weeks' gestational age [GA] at birth) revealed major eye and visual problems in 37.9% (147 of 388) of all EPT infants and in 55.4% (67 of 121) of the most immature subgroups at 6.5 years of age. These major eye and visual problems were strongly associated with treatment-requiring retinopathy of prematurity (ROP).Objectives:

A preanalytic validation study of automated bone scan index : Effect on accuracy and reproducibility due to the procedural variabilities in bone scan image acquisition

The effect of the procedural variability in image acquisition on the quantitative assessment of bone scan is unknown. Here, we have developed and performed preanalytical studies to assess the impact of the variability in scanning speed and in vendor-specific γ-camera on reproducibility and accuracy of the automated bone scan index (BSI). Methods: Two separate preanalytical studies were performed:

Getting the picture of home lighting: Adding participant photography to the interview

This paper draws attention to the potential benefits of using photographs in combination with interviews, that is to say photo elicitation. As defined by Harper (2002), photo elicitation is “based on the simple idea of inserting a photograph into a research interview” (p. 13). The photographs can be taken by the researcher or the participant to evoke comments. If participants are asked to produce

Cardiovascular efficacy and safety of bococizumab in high-risk patients

Background: Bococizumab is a humanized monoclonal antibody that inhibits proprotein convertase subtilisin-kexin type 9 (PCSK9) and reduces levels of low-density lipoprotein (LDL) cholesterol. We sought to evaluate the efficacy of bococizumab in patients at high cardiovascular risk. Methods: In two parallel, multinational trials with different entry criteria for LDL cholesterol levels, we randomly

Downregulation of growth hormone in postural orthostatic tachycardia syndrome: insights from the SYSTEMA cohort

Background Postural orthostatic tachycardia syndrome (POTS) is a variant of cardiovascular autonomic disorder occurring predominantly in young women. POTS is characterized by an excessive heart rate increase when assuming upright posture accompanied by symptoms of orthostatic intolerance. The pathophysiology of POTS has not been fully established and is believed to be multifactorial. Purpose We a

CYP27A1 expression is associated with risk of late lethal estrogen receptor-positive breast cancer in postmenopausal patients

Background: 27-Hydroxycholesterol (27HC) stimulates estrogen receptor-positive (ER+) breast cancer (BC) progression. Inhibiting the sterol 27-hydroxylase (CYP27A1) abrogates these growth-promoting effects of 27HC in mice. However, the significance of CYP27A1 expression on BC biology and prognosis is unclear. Methods: Intratumoral CYP27A1 expression in invasive BC was measured by immunohistochemist

Alzheimer's pathology targets distinct memory networks in the ageing brain

Alzheimer's disease researchers have been intrigued by the selective regional vulnerability of the brain to amyloid-β plaques and tau neurofibrillary tangles. Post-mortem studies indicate that in ageing and Alzheimer's disease tau tangles deposit early in the transentorhinal cortex, a region located in the anterior-temporal lobe that is critical for object memory. In contrast, amyloid-β pathology

Ligand binding and functional effects of systematic double D-amino acid residue substituted neuropeptide Y analogs on Y1 and Y2 receptor types

In order to identify the signal epitopes of the neuropeptide Y (NPY) molecule, the conformation of the NPY molecule was pertubated by a systematic double D-amino acid replacement of neighbouring residues. These NPY-analogs were examined for receptor affinity and on biological activity. The rat cerebral cortex and hippocampus were used for binding characteristics on Y1 and Y2 binding sites, respect

COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss

Genetic factors play an important role in the pathogenesis of osteoporosis but the genes that determine susceptibility to poor bone health are defined incompletely. Previous work has shown that a polymorphism that affects an Spl binding site in the COLIA1 gene is associated with reduced bone mineral density (BMD) and an increased risk of osteoporotic fracture in several populations. Data from cros

Sources of parent-offspring resemblance for major depression in a national Swedish extended adoption study

Importance: Twin studies have assessed sibling resemblance for major depression (MD) but cannot address sources of resemblance across generations. Objective: To clarify the relative importance of genetic and rearing effects on the parent-offspring resemblance for MD. Design: This Swedish population register-based study examined parents and children from the following 5 family types: intact (2 041

Cardiometabolic Polygenic Risk Scores and Osteoarthritis Outcomes : A Mendelian Randomization Study Using Data From the Malmö Diet and Cancer Study and the UK Biobank

Objective: To investigate the causal role of cardiometabolic risk factors in osteoarthritis (OA) using associated genetic variants. Methods: We studied 27,691 adults from the Malmö Diet and Cancer Study (MDCS) and replicated novel findings among 376,435 adults from the UK Biobank. Trait-specific polygenic risk scores for low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol

HLA high-resolution typing by next-generation sequencing in Pandemrix-induced narcolepsy

The incidence of narcolepsy type 1 (NT1) increased in Sweden following the 2009-2010 mass-vaccination with the influenza Pandemrix-vaccine. NT1 has been associated with Human leukocyte antigen (HLA) DQB1*06:02 but full high-resolution HLA-typing of all loci in vaccine-induced NT1 remains to be done. Therefore, here we performed HLA typing by sequencing HLA-DRB3, DRB4, DRB5, DRB1, DQA1, DQB1, DPA1

Utilization of Andean grain flours in the development of wheat flour dough

Bread dough was studied in relation to three Andean grain flours, quinoa (Chenopodium quinoa), amaranth (Amaranthus caudatus) and canahua (Chenopodium pallidicaule), as partial replacements for wheat flour with the perspectives of dough and breadmaking. This thesis deals with the understanding of both dough as a complex system, consisting of various water-filled polymers, and dough as a viscoelast

Associations between quantitative [18F]flortaucipir tau PET and atrophy across the Alzheimer's disease spectrum

Background: Neuropathological studies have linked tau aggregates to neuronal loss. To describe the spatial distribution of neurofibrillary tangle pathology in post-mortem tissue, Braak staging has been used. The aim of this study was to examine in vivo associations between tau pathology, quantified with [18F]flortaucipir PET in regions corresponding to Braak stages, and atrophy across the Alzheime

Neuropsychological outcome after cardiac arrest : results from a sub-study of the targeted hypothermia versus targeted normothermia after out-of-hospital cardiac arrest (TTM2) trial

Background: Cognitive impairment is common following out-of-hospital cardiac arrest (OHCA), but the nature of the impairment is poorly understood. Our objective was to describe cognitive impairment in OHCA survivors, with the hypothesis that OHCA survivors would perform significantly worse on neuropsychological tests of cognition than controls with acute myocardial infarction (MI). Another aim was