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Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clini
Axonal injury is a hallmark of traumatic brain injury (TBI) and is associated with a poor clinical outcome. Following central nervous system injury, axons regenerate poorly, in part due to the presence of molecules associated with myelin that inhibit axonal outgrowth, including myelin-associated glycoprotein (MAG). The involvement of MAG in neurobehavioral deficits and tissue loss following experi
Solving the mystery of the origin of chondrules is one of the most elusive goals in the field of meteoritics. Recently, the idea of planet(esimal) collisions releasing splashes of lava droplets, long considered out of favor, has been reconsidered as a possible origin of chondrules by several papers. One of the main problems with this idea is the lack of quantitative and simple models that can be u
Background: Persons with clinical onset of Alzheimer’s disease (AD) before 65 years of age are diagnosed with early-onset AD (EOAD). The prevalence of EOAD is low, but varies among studies from 6% to 16%. Most individuals with EOAD are still working, have an active social life, and might have children living at home. Therefore, the consequences of being diagnosed early with a disease that implies
Introduction: ECG-derived vectorcardiography (VCG) has diagnostic and prognostic value in various diseases. Hypertrophic cardiomyopathy (HCM), a genetic disease with unexplained left ventricular hypertrophy, is one of the most common causes of sudden cardiac death (SCD) in young persons. Genotype positive status is associated with increased risk of systolic dysfunction, heart failure, and (SCD). H
High-risk (HR) human papillomavirus (HPV) infection is an established cause of malignant disease. We used a societal perspective to estimate the cost of HR HPV-related cervical, vulvar, vaginal, anal, and penile precancer and cancer, and oropharyngeal cancer in Sweden in 2006, 1 year before HPV vaccination became available in the country. Materials and methods This prevalence-based cost-of-illness
OBJECTIVE:: Caesarean section (C-section) is associated with various immune-mediated diseases in the offspring. We investigated the relationship between mode of delivery and celiac disease (CD) and CD autoimmunity (CDA) in a multinational birth cohort. METHODS:: From 2004 to 2010 infants from the general population who tested positive for HLA DR3-DQ2 or DR4-DQ8 were enrolled in The Environmental D
Background & Aims Obesity, commonly assessed based on body mass index (BMI), is associated with an increased risk for severe liver disease. It is not known if other measures of body composition are better determinants of risk for severe liver disease, and/or if these differ between women and men. We investigated the body composition measures that best predict the development of severe liver di
BACKGROUND: Diabetes mellitus and hypertension are risk factors for cardiovascular disease, which is the most common cause of death in the world. People with intellectual disability (ID) have been reported to have high rates of both these disorders. The aim of this study was to describe and compare prevalence ratios of diabetes mellitus and hypertension between older adults with ID and their age p
Background: The K3326X variant in BRCA2 (BRCA2∗c.9976A>T p.Lys3326∗rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormonerelated cancers. Methods: Using weighted lo
Purpose The aim of this study was to evaluate the long-term effect of 2 years of adjuvant tamoxifen compared with no systemic treatment (control) in premenopausal patients with breast cancer over different time periods through long-term (> 25 years) follow-up. Patients and Methods Premenopausal patients with primary breast cancer (N = 564) were randomly assigned to 2 years of tamoxifen (n = 276) o
PURPOSE: To compare progressive dynamic, relative quantitative changes in glycans associated with retinal proteins of wild type (wt) and retinal degeneration 1 (rd1) mice during neonatal development and degeneration of retinae. METHODS: Proteins extracted from retinae of postnatal day 2 (PN2), PN7, PN14 wt and rd1 mice were labeled with Cy3-fluorescent dye. Glycome of these proteins was quantified
Purpose: To assess and correlate the levels of inflammatory mediators in the eyes from non-diabetic and diabetic subjects without retinopathy (NDR), with non-proliferative diabetic retinopathy (NPDR) or with proliferative diabetic retinopathy (PDR) to corresponding erum levels. Methods: The levels of interleukin 1β, interleukin-6 (IL-6) and tumour necrosis factor-α (TNF-α) were analysed by an EL
Background: The effects on left and right ventricular (LV, RV) volumes during physical exercise remains controversial. Furthermore, no previous study has investigated the effects of exercise on longitudinal contribution to stroke volume (SV) and the outer volume variation of the heart. The aim of this study was to determine if LV, RV and total heart volumes (THV) as well as cardiac pumping mechani
Industrial biotechnology has been defined as the use and application of biotechnology for the sustainable processing and production of chemicals, materials and fuels. It makes use of biocatalysts such as microbial communities, whole-cell microorganisms or purified enzymes. Although biocatalysts are considered advantageous, since they operate under mild conditions regarding temperature and pH and e
Objective: The objective of this study was to investigate the effect of tumor necrosis factor α inhibitor (TNFi) initiation on the use of antimicrobials among biologic-naïve patients with rheumatoid arthritis (RA). Methods: Information on all biologic-naïve patients with RA was extracted from ICEBIO, a nationwide registry. Each patient was matched on age, sex, and calendar time to five randomly se
Aortic regurgitation (AR) following continuous flow left ventricular assist device implantation (cf-LVAD) may adversely impact outcomes. We aimed to assess the incidence and impact of progressive AR after cf-LVAD on prognosis, biomarkers, functional capacity and echocardiographic findings. In an analysis of the PCHF-VAD database encompassing 12 European heart failure centers, patients were dichoto
BACKGROUND AND OBJECTIVE: The option to treat early colon cancer (CC) with local resection, as well as trials investigating neoadjuvant treatment, has increased the importance of identifying early-stage disease in the workup. Most CC patients are T- and N-staged preoperatively with CT, although its reliability in staging early CC remains elusive. The aim of this study was to investigate CT-staging
BACKGROUND: The long-term course of coronary atherosclerosis has not been studied in large nationwide cohorts. Understanding the natural history of coronary atherosclerosis could help identify patients at risk for future coronary events. METHODS AND RESULTS: All coronary artery segments with <50% luminal stenosis in patients with a first-time coronary angio-gram between 1989 and 2017 were identifi
