Search results for " ASSOCIATION"
showing 10 items of 996 documents
HeterozygousFGF8mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies
2014
Background The acronym VATER/VACTERL association describes the combination of at least three of the following cardinal features: vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. Although fibroblast growth factor-8 (FGF8) mutations have mainly found in patients with Kallmann syndrome, mice with a hypomorphic Fgf8 allele or complete gene invalidation display, aside from gonadotropin-releasing hormone deficiency, parts or even the entire spectrum of human VATER/VACTERL association. Methods We performed FGF8 gene analysis in 49 patients with VATER/VACTERL association and 27 patients …
The small-world of 'Le Petit Prince': Revisiting the word frequency distribution
2016
[EN] Many complex systems are naturally described through graph theory, and different kinds of systems described as networks present certain important characteristics in common. One of these features is the so-called scale-free distribution for its node s connectivity, which means that the degree distribution for the network s nodes follows a power law. Scale-free networks are usually referred to as small-world because the average distance between their nodes do not scale linearly with the size of the network, but logarithmically. Here we present a mathematical analysis on linguistics: the word frequency effect for different translations of the Le Petit Prince in different languages. Compar…
The association of depression and all-cause and cause-specific mortality: An umbrella review of systematic reviews and meta-analyses
2018
Background Depression is a prevalent and disabling mental disorder that frequently co-occurs with a wide range of chronic conditions. Evidence has suggested that depression could be associated with excess all-cause mortality across different settings and populations, although the causality of these associations remains unclear. Methods We conducted an umbrella review of systematic reviews and meta-analyses of observational studies. PubMed, PsycINFO, and Embase electronic databases were searched through January 20, 2018. Systematic reviews and meta-analyses that investigated associations of depression and all-cause and cause-specific mortality were selected for the review. The evidence was g…
Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region.
2014
Genome-wide association studies (GWASs) of follicular lymphoma (FL) have previously identified human leukocyte antigen (HLA) gene variants. To identify additional FL susceptibility loci, we conducted a large-scale two-stage GWAS in 4,523 case subjects and 13,344 control subjects of European ancestry. Five non-HLA loci were associated with FL risk: 11q23.3 (rs4938573, p = 5.79 × 10 -20) near CXCR5; 11q24.3 (rs4937362, p = 6.76 × 10 -11) near ETS1; 3q28 (rs6444305, p = 1.10 × 10 -10) in LPP; 18q21.33 (rs17749561, p = 8.28 × 10 -10) near BCL2; and 8q24.21 (rs13254990, p = 1.06 × 10 -8) near PVT1. In an analysis of the HLA region, we identified four linked HLA-DRß1 multiallelic amino acids at p…
The European Round Table of Industrialists and the restructuring of European higher education
2014
The restructuring of European higher education (EHE) since the 1980s is a widely studied subject. However, this paper argues that previous studies have paid insufficient attention to the role of transnational policy-making groups in this complex and multilevel process. This argument is supported by focusing on how the European Round Table of Industrialists (ERT) has participated in this restructuring since the mid-1980s. This paper's focus is especially in two ERT documents that were published in the 1980s. The main finding is that the current restructuring of EHE reflects interests of the ERT that represents the emerging transnational capitalist class (TCC) at European level.
Overview of the pediatric healthcare system in Romania.
2020
Until 1989, Romania was one of the countries of the communist bloc in Europe and its healthcare system was characterized by centralized planning and severe underfunding, with low performance and low quality healthcare. Since 1998, Romania replaced the Semashko model with a social health insurance system, highly centralized under the management of the Ministry of Health as the central administrative authority. After joining the European Union, quality of life increased in our country and there were efforts to improve the quality of healthcare, including pediatric and neonatal care. Still, Romania has the lowest share of health expenditure of gross domestic product among the European Union Me…
Maternal teaching of reading and children's reading skills in Grade 1: Patterns and predictors of positive and negative associations
2013
Abstract The main aim of the study was to identify subgroups of children based on the associations between the reported frequency of maternal teaching of reading and children's reading skills, and whether these subgroups differ with respect to mother-related (i.e., education, controlling behavior, and emotions in homework situations) and child-related (i.e., reading habits and gender) background factors. Data were gathered from 1460 mother–child dyads. The reading skills of 6- to 7-year-old Finnish-speaking children were measured at the beginning and at the end of Grade 1. Information from mothers was gathered by questionnaires. Regression Mixture Modeling identified four latent subgroups o…
Institutional Influences of Professional Associations and Franchise Organizations on Competitiveness of the Healthcare Clinics
2019
This paper uses insights from the institutional theory to study the competitiveness of the healthcare clinics in Spain. The environment of the healthcare services is highly institutionalized: professional associations are state agents responsible for the extensive regulation. Recently emerged franchise chains become subject for imitation by creating institutionalized routines from within and increasing competitive pressures for other industry players. While the sector is dominated by the independent doctors, franchise organizations are becoming more popular and show steady growth rates. The franchise business model in healthcare is evolving: while the core activity—provision of a healthcare…
A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for…
2014
Abstract Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 single-nucleotide polymorphisms (SNP) among a discovery set of 3,523 EOBC incident cases and 2,702 population control women ages ≤ 51 years. The SNPs with smallest P values were examined in a replication set of 3,470 EOBC cases and 5,475 control women. We also tested EOBC association with 19,684 genes by annotating each gene with putative functional SNPs, and then combining their P values to obtain a gene-based P value. We examined the gene with smallest P value for replication in 1,145 breast cancer cases and 1,142 control …
Extensive molecular analysis of patients bearing CFTR-related disorders.
2012
Cystic fibrosis transmembrane conductance regulator (CFTR)–related disorders (CFTR-RDs) may present with pancreatic sufficiency, normal sweat test results, and better outcome. The detection rate of mutations is lower in CFTR-RD than in classic CF: mutations may be located in genes encoding proteins that interact with CFTR or support channel activity. We tested the whole CFTR coding regions in 99 CFTR-RD patients, looking for gene mutations in solute carrier (SLC) 26A and in epithelial Na channel (ENaC) in 33 patients who had unidentified mutations. CFTR analysis revealed 28 mutations, some of which are rare. Of these mutations, RT-PCR demonstrated that the novel 1525-1delG impairs exon 10 s…