Search results for "Database"
showing 10 items of 2136 documents
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
2017
AbstractGenetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. We systematically evaluated PMMs by leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection. We found evidence that 11% of published single nucleotide variant (SNV)de novomutations are potentially PMMs. We then developed a robust SNV PMM calling approach that leverages complementary callers, logistic regression modeling, and additional heuristics. Using this approach, we recalled SNVs and found that 22% ofde novomutations like…
Epigenetic outlier profiles in depression: A genome-wide DNA methylation analysis of monozygotic twins
2018
Recent discoveries highlight the importance of stochastic epigenetic changes, as indexed by epigenetic outlier DNA methylation signatures, as a valuable tool to understand aberrant cell function and subsequent human pathology. There is evidence of such changes in different complex disorders as diverse as cancer, obesity and, to a lesser extent, depression. The current study was aimed at identifying outlying DNA methylation signatures of depressive psychopathology. Here, genome-wide DNA methylation levels were measured (by means of Illumina Infinium HumanMethylation450 Beadchip) in peripheral blood of thirty-four monozygotic twins informative for depressive psychopathology (lifetime DSM-IV d…
Hyperlipidaemia prevalence and cholesterol control in obstructive sleep apnoea: Data from the European sleep apnea database (ESADA)
2019
Abstract.Gunduz C, Basoglu OK, Hedner J, et al; onbehalf of the European Sleep Apnoea Databasecollaborators (Biruni University; Ege University;Gothenburg University; Sahlgrenska UniversityHospital; University of Palermo; CNR Institute ofBiomedicine and Molecular Immunology; St. AdolfStift; Hospital de Santa Maria; University of Crete;Antoine-Beclere Hospital; G. PapanikolaouHospital; Institute of Tuberculosis and LungDiseases; University Hospital Brno; St. Ann’sUniversity Hospital; Universite ́ Grenoble Alpes)Hyperlipidaemia prevalence and cholesterolcontrol in obstructive sleep apnoea: Data from theEuropean sleep apnea database (ESADA).J InternMed2019;286: 676–688.Background and objective.…
Prognostic Implications of the Complement Protein C1q in Gliomas
2019
The contribution of the complement system in the pathophysiology of brain cancers has been recently considered in light of its well-known involvement in carcinogenesis. Complement system represents an important component of the inflammatory response, which acts as a functional bridge between the innate and adaptive immune response. C1q, the first recognition subcomponent of the complement classical pathway, has recently been shown to be involved in a range of pathophysiological functions that are not dependent on complement activation. C1q is expressed in the microenvironment of various types of human tumors, including melanoma, prostate, mesothelioma, and ovarian cancers, where it can exer…
The relationship between the dietary inflammatory index and prevalence of radiographic symptomatic osteoarthritis: data from the Osteoarthritis Initi…
2017
Purpose: To investigate whether higher dietary inflammatory index (DII ® ) scores were associated with higher prevalence of radiographic symptomatic knee osteoarthritis in a large cohort of North American people from the Osteoarthritis Initiative database. Methods: A total of 4358 community-dwelling participants (2527 females; mean age 61.2 years) from the Osteoarthritis Initiative were identified. DII ® scores were calculated using the validated Block Brief 2000 Food-Frequency Questionnaire and scores were categorized into quartiles. Knee radiographic symptomatic osteoarthritis was diagnosed clinically and radiologically. The strength of association between divided into quartiles (DII ® ) …
Immunocompromised patients with acute respiratory distress syndrome: Secondary analysis of the LUNG SAFE database
2018
Background: The aim of this study was to describe data on epidemiology, ventilatory management, and outcome of acute respiratory distress syndrome (ARDS) in immunocompromised patients. Methods: We performed a post hoc analysis on the cohort of immunocompromised patients enrolled in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE) study. The LUNG SAFE study was an international, prospective study including hypoxemic patients in 459 ICUs from 50 countries across 5 continents. Results: Of 2813 patients with ARDS, 584 (20.8%) were immunocompromised, 38.9% of whom had an unspecified cause. Pneumonia, nonpulmonary sepsis, and noncardiog…
On the advantages of word-frequency and contextual diversity measures extracted from subtitles: the case of Portuguese
2015
Accepted manuscript. Epub ahead of print, 29 Sep. 2014.
Daily energy expenditure through the human life course
2021
Total daily energy expenditure (“total expenditure”, MJ/d) reflects daily energy needs and is a critical variable in human health and physiology, yet it is unclear how daily expenditure changes over the life course. Here, we analyze a large, globally diverse database of total expenditure measured by the doubly labeled water method for males and females aged 8 days to 95 yr. We show that total expenditure is strongly related to fat free mass in a power-law manner and identify four distinct metabolic life stages. Fat free mass-adjusted daily expenditure accelerates rapidly in neonates (0-1yr) to ~46% above adult values at ~1 yr, declines slowly throughout childhood and adolescence (1-20 yr) t…
Does tinnitus distress depend on age of onset?
2011
Objectives: Tinnitus is the perception of a sound in the absence of any physical source of it. About 5–15% of the population report hearing such a tinnitus and about 1–2% suffer from their tinnitus leading to anxiety, sleep disorders or depression. It is currently not completely understood why some people feel distressed by their tinnitus, while others don’t. Several studiesindicate that the amount of tinnitus distress is associated with many factors including comorbid anxiety, comorbid depression, personality, the psychosocial situation, the amount of the related hearing loss and the loudness of the tinnitus.Furthermore, theoretical considerations suggest an impact of the age at tinnitus o…
Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for …
2015
Background Up-to-date evidence on levels and trends for age-sex-specific all-cause and cause-specific mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries between 1990, and 2013. We used the results to assess whether there is epidemiological convergence across countries. Methods We estimated age-sex-specific all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data. We generally estimated cause of death as in the GBD 2010. Key improvements included…