Search results for "heterogeneity"
showing 10 items of 402 documents
Genome-wide association study of motor coordination problems in ADHD identifies genes for brain and muscle function.
2012
Item does not contain fulltext OBJECTIVES: Motor coordination problems are frequent in children with attention deficit/hyperactivity disorder (ADHD). We performed a genome-wide association study to identify genes contributing to motor coordination problems, hypothesizing that the presence of such problems in children with ADHD may identify a sample of reduced genetic heterogeneity. METHODS: Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly…
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
1997
The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3 (FGFR3) in this family. The mutation, P250R, had been previously reported in 10 patients with non-syndromic craniosynostosis. Variable expression of this mutation is evident especially in two additional members of this family, one of whom is severely affected with pancraniosynostosi…
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
2014
International audience; Epileptic encephalopathy (EE) refers to a clinically and genetically heterogeneous group of severe disorders characterized by seizures, abnormal interictal electro-encephalogram, psychomotor delay, and/or cognitive deterioration. We ascertained two multiplex families (including one consanguineous family) consistent with an autosomal-recessive inheritance pattern of EE. All seven affected individuals developed subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Given the similarity in clinical presentation in the two families, we hypothesized that the observed phenotype was due …
Global electrical heterogeneity as a predictor of cardiovascular mortality in men and women
2018
Aims The aim of this study was to investigate the contribution of depolarization and repolarization abnormalities, specially abnormalities in global electrical heterogeneity of heart in cardiovascular disease (CVD) and all-cause mortality. Methods and results Eight hundred and forty men and 911 women, average age of 63 years participated in this study with average follow-up was 14 years. Six electrocardiogram/vector electrocardiogram (ECG/VECG) markers QRS-duration, QTc-interval, QRST-angle, sum of absolute QRST integral (SAI QRST), T-wave roundness, and TV1-amplitude were estimated from VECG measurements. Hazard ratios (HRs) for CVD events (164 deaths) and all-cause mortality (383 deaths) …
Uncontrolled diabetes and health care utilisation:A bivariate latent Markov model approach
2018
Although uncontrolled diabetes (UD) or poor glycaemic control is a widespread condition with potentially life-threatening consequences, there is sparse evidence of its effects on health care utilisation. We jointly model the propensities to consume health care and UD by employing an innovative bivariate latent Markov model that allows for dynamic unobserved heterogeneity, movements between latent states and the endogeneity of UD. We estimate the effects of UD on primary and secondary health care consumption using a panel dataset of rich administrative records from Spain and measure UD using a biomarker. We find that, conditional on time-varying unobservables, UD does not have a statisticall…
Choline PET/CT Features to Predict Survival Outcome in High Risk Prostate Cancer Restaging: A Preliminary Machine-Learning Radiomics Study
2020
Background Radiomic features are increasingly utilized to evaluate tumor heterogeneity in PET imaging but to date its role has not been investigated for Cho-PET in prostate cancer. The potential application of radiomics features analysis using a machine-learning radiomics algorithm was evaluated to select 18F-Cho PET/CT imaging features to predict disease progression in PCa. Methods We retrospectively analyzed high-risk PCa patients who underwent restaging 18F-Cho PET/CT from November 2013 to May 2018. 18F-Cho PET/CT studies and related structures containing volumetric segmentations were imported in the "CGITA" toolbox to extract imaging features from each lesion. A Machine-learning model h…
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
2020
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the c…
Intra-party heterogeneity in policy preferences and its effect on issue salience: Developing and applying a measure based on elite survey data
2017
Quantitative research on party politics often has to assume that parties are unitary actors with homogeneous policy preferences simply because intra-party heterogeneity is difficult to measure. This article proposes a measure of preference heterogeneity based on surveys of party elites. We draw on Comparative Candidates Survey (CCS) data from 28 elections in 21 developed democracies to quantify intra-party heterogeneity and validate this measure. The usefulness of the measure is demonstrated by studying the effects of intra-party heterogeneity on issue salience. We find support for the hypothesis that heterogeneity regarding a policy issue tends to be negatively associated with the emphasi…
Dynamical heterogeneities of rotational motion in room temperature ionic liquids evidenced by molecular dynamics simulations
2018
Room temperature ionic liquids (RTILs) have been shown to exhibit spatial heterogeneity or structural heterogeneity in the sense that they form hydrophobic and ionic domains. Yet studies of the relationship between this structural heterogeneity and the ∼picosecond motion of the molecular constituents remain limited. In order to obtain insight into the time scales relevant to this structural heterogeneity, we perform molecular dynamics simulations of a series of RTILs. To investigate the relationship between the structures, i.e., the presence of hydrophobic and ionic domains, and the dynamics, we gradually increase the size of the hydrophobic part of the cation from ethylammonium nitrate (EA…
Cooperativity Scaling and Free Volume in Plasticized Polylactide
2019
The authors would like to thank the region Haute Normandie for their financial support and the acquisition of the Broadband Dielectric Spectrometer. R.G. acknowledges U.S. National Science Foundation (Grant no. DMR-1725188) for the acquisition of PAL spectrometer. The experimental evidence of the increase of activation energy associated with the super Arrhenius behavior governing amorphous polylactide by free volume variations has been obtained through a combination of calorimetric, dielectric, and positron annihilation lifetime measurements. The amount of free volume in polylactide was controlled by the amount of acetyltributylcitrate plasticizer in the composition. Plasticization is shown…