Search results for "servi"

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement

2018

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …

Making sense of big data in health research: {T}owards an {EU} action plan

2016

Genome medicine 8(1), 71 (2016). doi:10.1186/s13073-016-0323-y

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1

2018

Primary ciliary dyskinesia (PCD) is a rare heterogenous condition that causes progressive suppurative lung disease, chronic rhinosinusitis, chronic otitis media, infertility and abnormal situs. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinicians coordinating research from basic science through to clinical care with the intention of developing treatments and diagnostics that lead to improved long-term outcomes for patients. BEAT-PCD activities are supported by EU funded COST Action (BM1407). The second BEAT-PCD conference, and third PCD training school were held jointly in April 2017 in Valencia, Spain. Presentations and w…

Consensus paper on the “executive summary of the international conference on Mediterranean diet and health: a lifelong approach” an Italian initiativ…

2018

The Mediterranean Diet Foundation, in collaboration with the International Menarini Foundation, organized the “International Conference on Mediterranean Diet and Health: A Lifelong Approach.” The Conference was held in Ostuni (Puglia, Italy) from March 30 to April 1, 2017. The event received the endorsement of the American Federation for Aging Research, the Research Consortium “Luigi Amaducci,” the European Nutrition for Health Alliance, the European Union Geriatric Medicine Society, the Clinical Section of the International Association of Gerontology and Geriatrics—European Region, the National Research Council Research Project on Aging, the Italian Society of Gerontology and Geriatrics, a…

Genetic association study of childhood aggression across raters, instruments, and age

2021

AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…

Importance of rotary systems in dental care by undergraduate students in patients of a public health service of Belo Horizonte.

2015

Background: The aim of this study was to evaluate the fracture rates of ProTaper rotary files used in the endodontics extension clinic of the Undergraduate Dentistry Course of the Pontifical Catholic University of Minas Gerais during the prior eight years. Material and Methods: Control record data regarding file usage by students were collected and analyzed by semester. For each period, the total number of patient consultations, the frequency of file use, the occurrence of fractures and the file numbers for which fractures occurred were noted. Descriptive statistics, including frequency of file fractures were calculated for all file types. The chi-square test was used to evaluate difference…

Credibility to attract, trust to stay: the mediating role of trust in improving brand congruence in sports services

2021

This research aims to demonstrate the mediating role of brand trust in the relationship between credibility and users' congruence with a sports services brand. The analysis was carried out using EQS 6.3 to perform the four required steps of the analysis (and the Sobel test was conducted for a public sports service and a private sports service. The results confirm the full mediation effect of brand trust in the case of the private service and a partial mediation for the public service. Therefore, this study confirms that credibility, in the presence of trust, ceases to have an influence on the congruence of users with the brand, which suggests that credibility is important at an initial stag…

Phylogenomics of Mycobacterium africanum reveals a new lineage and a complex evolutionary history.

2021

Coscolla et al.

Editorial: School food provided for free

2016

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

2017

Hypertension represents a major cardiovascular risk factor. The pathophysiology of increased blood pressure (BP) is not yet completely understood. Transcriptome profiling offers possibilities to uncover genetics effects on BP. Based on 2 populations including 2549 individuals, a meta-analyses of monocytic transcriptome-wide profiles were performed to identify transcripts associated with BP. Replication was performed in 2 independent studies of whole-blood transcriptome data including 1990 individuals. For identified candidate genes, a direct link between long-term changes in BP and gene expression over time and by treatment with BP-lowering therapy was assessed. The predictive value of pro…