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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

Objectives: Increasing incidences of non-typeable Haemophilus influenzae (NTHi) with β-lactam resistance mediated through mutations in penicillin-binding protein 3 (BLNAR or rPBP3) have been observed in the past decades. Recently, an rPBP3 NTHi sequence type (ST) 14 with PBP3 type IIb/A caused a disease outbreak in a nursing home in Sweden with severe outcomes, indicating increased bacterial virul

Purpose: The aim of this study was to assess the performance-based visual ability among independently living elderly subjects and to investigate whether there was any association between visual ability and falls. Subjects and methods: A total of 298 randomly selected subjects aged 70-85 years were invited for an examination including monocular and binocular visual acuity (VA), contrast sensitivity

Purpose The AGO-OVAR 2.29/ENGOT-ov14/PENELOPE prospectively randomized phase III trial evaluated the addition of pertuzumab to chemotherapy in patients with platinum-resistant ovarian carcinoma with low tumor human epidermal growth factor receptor 3 (HER3)mRNA expression. We report the results of the primary efficacy analysis. Patients and Methods Eligible patients had ovarian carcinoma that progr

Purpose: Tasquinimod, a novel oral therapy targeting the tumor microenvironment, significantly improved progression-free survival (PFS) in a randomized, placebo-controlled phase II trial in men with metastatic castration-resistant prostate cancer (mCRPC). This phase III study was conducted to confirm the phase II results and to detect an overall survival (OS) benefit. Patients and Methods: Men wit

Objective: The authors sought to clarify the relationship between marriage and risk for alcohol use disorder. Method: The association between marital status and risk for first registration for alcohol use disorder in medical, criminal, and pharmacy registries was assessed in a population-based Swedish cohort (N=3,220,628) using longitudinal timedependent survival and co-relative designs. Results:

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

Purpose: Various food patterns have been associated with weight change in adults, but it is unknown which combinations of nutrients may account for such observations. We investigated associations between main nutrient patterns and prospective weight change in adults. Methods: This study includes 235,880 participants, 25–70 years old, recruited between 1992 and 2000 in 10 European countries. Intake

OBJECTIVES: Genomewide association studies (GWAS) have identified consistent associations with obesity, with a number of studies implicating eating behavior as a primary mechanism. Few studies have replicated genetic associations with dietary intake. This study evaluates the association between obesity susceptibility loci and dietary intake. METHODS: Data were obtained as part of the Diabetes Prev

Background: TCF7L2 is a central transcription factor in the canonical wingless-type MMTV integration site (WNT) signaling pathway, and genetic variants in TCF7L2 have been found to interact with dietary fiber intake on type 2 diabetes risk. Here, we investigate whether other type 2 diabetes genes could be involved in the WNT signaling pathway and whether variants in such genes might interact with

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

Elevated manganese (Mn) in drinking water has been reported worldwide. While, naturally occurring Mn in groundwater is generally the major source, anthropogenic contamination by Mn-containing fungicides such as mancozeb may also occur. The main objective of this study was to examine factors associated with Mn and ethylenethiourea (ETU), a degradation product of mancozeb, in drinking water samples

Aims To examine the prognostic importance of weight-change in patients with coronary artery disease (CAD), especially following acute myocardial infarction (AMI). Methods and results In 4360 AMI patients (OPTIMAAL trial) without baseline oedema, we assessed 3-month weight-change, baseline body mass index (BMI), demographics, patient history, medication, physical examination, and biochemical analys

Context and Objective: Metabolic and body compositional consequences of GH deficiency (GHD) in adults are associated with a phenotype similar to the metabolic syndrome (MetS). Patients: We assessed MetS prevalence in adult GHD patients (n = 2531) enrolled in the Hypopituitary Control and Complications Study. Prevalence was assessed at baseline and after 3 yr of GH replacement in a subset of 346 ad

OBJECTIVE:: To assess the prognostic value of continuous amplitude-integrated electroencephalogram in comatose survivors after cardiac arrest and treated with hypothermia. DESIGN:: Prospective observational study. SETTING:: General intensive care unit at a university hospital. PATIENTS:: Comatose patients after cardiac arrest and treated with hypothermia. INTERVENTIONS:: Patients were sedated and

OBJECTIVE: Mediolateral knee movement can be assessed visually with clinical tests. A knee-medial-to-foot position is associated with an increased risk of knee injuries and pathologies. However, the implications of such findings on daily tasks are not well understood. The aim of this study was to investigate if a knee-medial-to-foot position assessed during a clinical test was associated with alte

OBJECTIVES: Testicular germ-cell cancer (TGCC) patients are at risk of developing hypogonadism but no risk factors have yet been defined. METHODS: Blood was collected from 143 TGCC patients (after orchidectomy, prior to further therapy (T0) and 6, 12, 24, 36 and 60 months (T6, T12, T24, T36 and T60) after therapy). Biological hypogonadism (BH) was defined as: serum testosterone below 10 nmol/l and

Chromosome banding analysis of 11 short-term cultured gallbladder carcinomas revealed acquired clonal aberrations in seven tumors (five primary and two metastases). Three of these had one clone, whereas the remaining four were cytogenetically heterogeneous, displaying two to seven aberrant clones. Of a total of 21 abnormal clones, 18 had highly complex karyotypes and three exhibited simple numeric