Search results for " data"
showing 10 items of 7516 documents
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
Dry selection and wet evaluation for the rational discovery of new anthelmintics
2017
Helminths infections remain a major problem in medical and public health. In this report, atom-based 2D bilinear indices, a TOMOCOMD-CARDD (QuBiLs-MAS module) molecular descriptor family and linear discriminant analysis (LDA) were used to find models that differentiate among anthelmintic and non-anthelmintic compounds. Two classification models obtained by using non-stochastic and stochastic 2D bilinear indices, classified correctly 86.64% and 84.66%, respectively, in the training set. Equation 1(2) correctly classified 141(135) out of 165 [85.45%(81.82%)] compounds in external validation set. Another LDA models were performed in order to get the most likely mechanism of action of anthelmin…
Direct and Inverse Comorbidities Between Complex Disorders
2016
Comorbidity and multimorbidity, defined as the presence of more than one disease in individuals, have emerged as a major challenge in the last decade (Valderas et al., 2009). Indeed, researchers, health professionals, healthcare managers and policy makers, and patients and citizens are lagging behind considering the comorbidity scenario, as illustrated by the paucity of documentation concerning interventions in people with multiple conditions (Smith et al., 2012). There is a clear need to better understand disease-disease relationships, in order to better organize and provide care, but also to develop appropriate research models. We can first characterize direct multimorbidity (higher-than-…
Comparing Targeted vs. Untargeted MS2 Data-Dependent Acquisition for Peak Annotation in LC-MS Metabolomics
2020
One of the most widely used strategies for metabolite annotation in untargeted LCMS is based on the analysis of MSn spectra acquired using data-dependent acquisition (DDA), where precursor ions are sequentially selected from MS scans based on user-selected criteria. However, the number of MSn spectra that can be acquired during a chromatogram is limited and a trade-off between analytical speed, sensitivity and coverage must be ensured. In this research, we compare four different strategies for automated MS2 DDA, which can be easily implemented in the frame of standard QA/QC workflows for untargeted LC&ndash
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
2017
Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digi…
2016
Item does not contain fulltext Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transition zone of the primary cilia or the closely associated distal end of centrioles. These two structures are essential for the formation of functional cilia, and for signaling events during development. We report here causal compound heterozygous mutations of KIAA0753/OFIP in a patient with an OFD VI syndrome. We show that the KIAA0753/OFIP protein, whose sequence is conserved in ciliated species, associates with centrosome/centriole and pericentrio…
The Importance of Cerebellar Connectivity on Simulated Brain Dynamics
2020
The brain shows a complex multiscale organization that prevents a direct understanding of how structure, function and dynamics are correlated. To date, advances in neural modeling offer a unique opportunity for simulating global brain dynamics by embedding empirical data on different scales in a mathematical framework. The Virtual Brain (TVB) is an advanced data-driven model allowing to simulate brain dynamics starting from individual subjects' structural and functional connectivity obtained, for example, from magnetic resonance imaging (MRI). The use of TVB has been limited so far to cerebral connectivity but here, for the first time, we have introduced cerebellar nodes and interconnecting…
Reanalysis of Chinese Treponema pallidum samples: all Chinese samples cluster with SS14-like group of syphilis-causing treponemes
2018
[Objective]: Treponema pallidum subsp. pallidum (TPA) is the causative agent of syphilis. Genetic analyses of TPA reference strains and human clinical isolates have revealed two genetically distinct groups of syphilis-causing treponemes, called Nichols-like and SS14-like groups. So far, no genetic intermediates, i.e. strains containing a mixed pattern of Nichols-like and SS14-like genomic sequences, have been identifed. Recently, Sun et al. (Oncotarget 2016. https://doi. org/10.18632/oncotarget.10154) described a new “phylogenetic group” (called Lineage 2) among Chinese TPA strains. This lineage exhibited a “mosaic genomic structure” of Nichols-like and SS14-like lineages.
Quantum clustering in non-spherical data distributions: Finding a suitable number of clusters
2017
Quantum Clustering (QC) provides an alternative approach to clustering algorithms, several of which are based on geometric relationships between data points. Instead, QC makes use of quantum mechanics concepts to find structures (clusters) in data sets by finding the minima of a quantum potential. The starting point of QC is a Parzen estimator with a fixed length scale, which significantly affects the final cluster allocation. This dependence on an adjustable parameter is common to other methods. We propose a framework to find suitable values of the length parameter σ by optimising twin measures of cluster separation and consistency for a given cluster number. This is an extension of the Se…
High fat diets for weight loss among subjects with elevated fasting glucose levels: The PREDIMED study
2020
Abstract Aim We studied fasting plasma glucose (FPG) as a determinant of weight change on high-fat diets in the PREDIMED trial. Methods A total of 3,622 participants were randomized to receive one of two Mediterranean diets (n = 2,616) or a control diet (n = 1,006) for 5 years and had complete data for baseline FPG and body-weight development. Weight change by pre-treatment FPG categories ( Results The two Mediterranean diets contained 41.5 E% fat, 16.5 E% protein, and 40 E% carbohydrate whereas the control diet contained 37.8 E% fat, 16.8 E% protein and 43.2 E% carbohydrate. In the Mediterranean diet groups, participants with FPG≥115 lost 1.04 kg (95% CI 0.68; 1.41, n = 1115) whereas parti…