Search results for "informatics"
showing 10 items of 2542 documents
Association of loss of 1p and alterations of chromosome 14 in meningioma progression
2004
Meningiomas are usually benign tumors; however, they can recur after surgical resection and occasionally show histologic progression to a higher grade II and III malignancy. The second most frequently reported genetic abnormality after 22q loss is deletion of 1p, although alterations in 9q, 10q, and 14q are also implicated in meningioma progression. Fourteen tumors comprising six benign, four atypical, and four malignant meningiomas were examined by means of cytogenetic and fluorescence in situ hybridization analysis. All tumors showed losses in different regions of 1p, with 1p11, 1p13, 1p21, 1p22, 1p32, and 1q21 breakpoints; eight tumors also presented alterations of chromosome 14. Five of…
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits
2015
Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3…
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
2009
The exstrophy-epispadias complex (EEC) comprises a spectrum of urogenital anomalies in which part or all of the distal urinary tract fails to close. The present study aimed to identify microaberrations characterized by loss or gain of genomic material that contribute to the EEC at a genome-wide level. Molecular karyotyping, utilizing 549,839 single nucleotide polymorphisms (SNPs) with an average spacing of 5.7 kilobases, was performed to screen an initial cohort of 16 patients with non-syndromic EEC. A de novo microduplication involving chromosomal region 22q11.21 was identified in one patient with classic exstrophy of the bladder (CBE). Subsequent multiplex ligation-dependent probe amplifi…
pBrain: A novel pipeline for Parkinson related brain structure segmentation
2020
[EN] Parkinson is a very prevalent neurodegenerative disease impacting the life of millions of people worldwide. Although its cause remains unknown, its functional and structural analysis is fundamental to advance in the search of a cure or symptomatic treatment. The automatic segmentation of deep brain structures related to Parkinson's disease could be beneficial for the follow up and treatment planning. Unfortunately, there is not broadly available segmentation software to automatically measure Parkinson related structures. In this paper, we present a novel pipeline to segment three deep brain structures related to Parkinson's disease (substantia nigra, subthalamic nucleus and red nucleus…
Sensor acceptance model:measuring patient acceptance of wearable sensors
2008
Summary Objectives: This project focuses on how patients respond to wearable biomedical sensors, since patient acceptance of this type of monitoring technology is essential for enhancing the quality of the data being measured. There is a lack of validated questionnaires measuring patient acceptance of telemedical solutions, and little information is known of how patients evaluate the use of wearable sensors. Methods: In information systems research, surveys are commonly used to evaluate the user satisfaction of software programs. Based on this tradition and adding measures of patient satisfaction and health-related quality of life (HRQoL), a Sensor Acceptance Model is developed. The model i…
Outcomes after acute myocardial infarction in HIV-infected patients: analysis of data from a French nationwide hospital medical information database.
2013
Background— We aimed to assess in-hospital case fatality and 1-year prognosis in HIV-infected patients with acute myocardial infarction. Methods and Results— From the PMSI (Program de Medicalisation des Systèmes d’informatique) database, data from 277 303 consecutive acute myocardial infarction patients hospitalized from January 1, 2005, to December 31, 2009, were analyzed. Surviving patients were followed up for 1 year after discharge. HIV-infected patients were compared with uninfected patients. Among the cohort, HIV-infected patients (n=608) accounted for 0.22%. All-cause hospital and 1-year mortality rates were lower in the HIV-infected group than in uninfected patients (3.1% versus 8.…
Is recession bad for your mental health? The answer could be complex: evidence from the 2008 crisis in Spain
2018
Abstract Background We explored the impact of 2008 recession on the prevalence of mental health problems in Spain. Methods Repeated cross-sectional survey design. Datasets from 2006 and 2011 were used, and temporal change was examined. The study was conducted on the economically active population (16–64 years old). The two surveys included 29,478 and 21,007 people, obtaining a 96 and 89.6% response rate, respectively. Multiple logistic regression models were adjusted to identify poor mental health risk factors. A standardisation analysis was performed to estimate the prevalence of people at risk of poor mental health (GHQ+). Results The prevalence of GHQ+ following the crisis increased in m…
Physical activity in adulthood: genes and mortality.
2015
AbstractObservational studies report a strong inverse relationship between leisure-time physical activity and all-cause mortality. Despite suggestive evidence from population-based associations, scientists have not been able to show a beneficial effect of physical activity on the risk of death in controlled intervention studies among individuals who have been healthy at baseline. On the other hand, high cardiorespiratory fitness is known to be a strong predictor of reduced mortality, even more robust than physical activity level itself. Here, in both animals and/or human twins, we show that the same genetic factors influence physical activity levels, cardiorespiratory fitness and risk of de…
Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study
2010
Background— Recent genome-wide association studies (GWAS) of myocardial infarction (MI) and other forms of coronary artery disease (CAD) have led to the discovery of at least 13 genetic loci. In addition to the effect size, power to detect associations is largely driven by sample size. Therefore, to maximize the chance of finding novel susceptibility loci for CAD and MI, the Coronary ARtery DIsease Genome-wide Replication And Meta-analysis (CARDIoGRAM) consortium was formed. Methods and Results— CARDIoGRAM combines data from all published and several unpublished GWAS in individuals with European ancestry; includes >22 000 cases with CAD, MI, or both and >60 000 controls; and unifies …