Search results for " Primary"
showing 10 items of 453 documents
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
2015
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine–cytokine pathways, for which relevant therapies exist.
Do Parents’ Causal Attributions Predict the Accuracy and Bias in their Children’s Self‐Concept of Maths Ability? A longitudinal study
2007
The present study investigated the extent to which parents’ causal attributions predict the accuracy of, and bias in, their children’s self‐concept of maths ability. Participants were 207 children and their 182 mothers and 167 fathers, who were assessed during the children’s first and second primary school years. The results showed that the more parents thought that their children succeeded because of ability, the more accurate the children’s self‐concept of maths ability became. In contrast, the more the parents attributed their children’s success to effort, the less accurate and more optimistic the children’s self‐concept of ability became.
Lyapunov graphs for circle valued functions
2018
International audience; Conley index theory is used to obtain results for flows associated to circular Lyapunov functions defined on general compact smooth n-manifolds. This is done in terms of their underlying circular Lyapunov digraphs, which are generalizations of Morse digraphs, by extensively studying their combinatorics, invariants and realizability.
The HOMFLY-PT polynomials of sublinks and the Yokonuma–Hecke algebras
2016
We describe completely the link invariants constructed using Markov traces on the Yokonuma-Hecke algebras in terms of the linking matrix and the HOMFLYPT polynomials of sublinks.
Magnesium deprivation affects development and biomineralization in the sea urchin arba-cia lixula
2018
Skeletogenesis is a key morphogenetic event in the life of marine invertebrates. Marine calcifiers secrete their calcareous skeletons taking up ions from seawater. Marine biominerals include aragonite and calcite, the latter of which in some taxa (e.g. echinoderms, coralline algae) can have a substantial magnesium (Mg) component. Echinoderms have an extensive endoskeleton composed of high magnesian calcite and occluded matrix proteins1. As biomineralization in sea urchin larvae is sensitive to the Magnesium:Calcium ratio of sea water, we investigated the effects of magnesium deprivation on development and skeletogenesis in the Mediterranean sea urchin Arbacia lixula. Microscopic inspection …
Development and initial validation of the macrophage activation syndrome/primary hemophagocytic lymphohistiocytosis score, a diagnostic tool that dif…
2017
OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the i…
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient
2021
Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alc…
CpG islands in MyD88 and ASC/PYCARD/TMS1 promoter regions are differentially methylated in head and neck squamous cell carcinoma and primary lung squ…
2021
Abstract Background Patients with head and neck squamous cell carcinoma (HNSCC) can develop lung squamous cell carcinoma (LuSCC), which could be the second primary tumor or HNSCC metastasis. Morphologically it is difficult to distinguish metastatic HNSCC from a second primary tumor which presents a significant diagnostic challenge. Differentiation of those two malignancies is important because the recommended treatments for metastatic HNSCC and primary LuSCC differ significantly. We investigated if the quantification of the promotor methylation status in HNSCC and LuSCC differs. Methods Primary HNSCC (N = 36) and LuSCC (N = 17) were included in this study. Methylation status in the ASC/TMS1…
Combination Therapy with Oral Treprostinil for Pulmonary Arterial Hypertension:A Double-Blind Placebo-controlled Clinical Trial
2020
Rationale: Oral treprostinil improves exercise capacity in patients with pulmonary arterial hypertension (PAH), but the effect on clinical outcomes was unknown.\ud \ud Objectives: To evaluate the effect of oral treprostinil compared with placebo on time to first adjudicated clinical worsening event in participants with PAH who recently began approved oral monotherapy.\ud \ud Methods: In this event-driven, double-blind study, we randomly allocated 690 participants (1:1 ratio) with PAH to receive placebo or oral treprostinil extended-release tablets three times daily. Eligible participants were using approved oral monotherapy for over 30 days before randomization and had a 6-minute-walk dista…
Expectations among patients and health professionals regarding Web-based interventions for depression in primary care: A qualitative study
2015
Background: One-quarter of the world's population will suffer from depression symptoms at some point in their lives. Mental health services in developed countries are overburdened. Therefore, cost-effective interventions that provide mental health care solutions such as Web-based psychotherapy programs have been proposed. Objective: The intent of the study was to identify expectations regarding Web-based psychotherapy for the treatment of depression in primary care among patients and health professionals that might facilitate or hinder its effects. Methods: The expectations of untreated patients and health professionals were examined by means of interviews and focus groups. There were 43 pa…