Search results for " Heterogeneity"

Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD

2008

Contains fulltext : 70183.pdf (Publisher’s version ) (Closed access) Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD - CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD - CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identi…

Inheritance and variable expression in Rubinstein-Taybi syndrome.

2010

Familial Rubinstein-Taybi syndrome (RTS) is very rare. Here we report on the 6th and 7th case of inherited RTS. Family 1 presents with incomplete or mild RTS over three generations; a 13-year-old girl (proband 1) with mild but typical facial features and learning disabilities, her very mildly affected mother (proband 2), and the maternal grandmother (proband 3). Family 2 includes three females with classical RTS (probands 4-6) and their father (proband 7) with broad thumbs and halluces. Proband 5 also had a brain tumor (ganglioglioma) at the age of 3 years. In probands 1-3, direct sequencing identified a novel CREBBP missense mutation, c.2728A > G (predicting p.Thr910Ala), that was absent i…

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

2020

PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome explain no more than 20% of subjects.MethodsTo further decipher the genetic basis of MHID, we performed exome sequencing on a combination of trio-based (33 subjects) or single probands (31 subjects), of which 61 were sporadic.ResultsWe identified eight genes with de novo variants (DNVs) in at least two unrelated individuals (ARID1B, ATP1A1, DLG4, EHMT1, NFIX, NSD1, NUP205 and ZEB2). Using simulation models, we showed that five genes (DLG4, NFIX, …

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

2006

New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and treatability of candidate screening conditions. We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death. In Bavaria, we screened 677,852 neonates for 25 conditions, including MCCD, based on elevat…

Insights on amyloid spherulites structure at molecular level

Exosomes from metastatic cancer cells transfer amoeboid phenotype to non-metastatic cells and increase endothelial permeability: their emerging role …

2017

AbstractThe goal of this study was to understand if exosomes derived from high-metastatic cells may influence the behavior of less aggressive cancer cells and the properties of the endothelium. We found that metastatic colon cancer cells are able to transfer their amoeboid phenotype to isogenic primary cancer cells through exosomes, and that this morphological transition is associated with the acquisition of a more aggressive behavior. Moreover, exosomes from the metastatic line (SW620Exos) exhibited higher ability to cause endothelial hyperpermeability than exosomes from the non metastatic line (SW480Exos). SWATH-based quantitative proteomic analysis highlighted that SW620Exos are signific…

Exploring the relevance and extent of small airways dysfunction in asthma (ATLANTIS): baseline data from a prospective cohort study

2019

BACKGROUND: Small airways dysfunction (SAD) is well recognised in asthma, yet its role in the severity and control of asthma is unclear. This study aimed to assess which combination of biomarkers, physiological tests, and imaging markers best measure the presence and extent of SAD in patients with asthma.METHODS: In this baseline assessment of a multinational prospective cohort study (the Assessment of Small Airways Involvement in Asthma [ATLANTIS] study), we recruited participants with and without asthma (defined as Global Initiative for Asthma severity stages 1-5) from general practices, the databases of chest physicians, and advertisements at 29 centres across nine countries (Brazil, Chi…

Determinants of macroinvertebrate diversity in headwater streams: regional and local influences

2003

Summary 1 Multiscale determinants of diversity and the relationship between regional (RSR) and local richness (LSR) have recently attracted increased attention, yet such studies on stream organisms remain scarce. We studied the relationships among RSR, β-diversity, LSR and local environmental variables in 120 headwater streams in Finland. Approximately similar-sized areas of eight drainage systems were defined as regions, and 15 stream riffles (= locality) per region were sampled. 2 RSR showed a strong positive relationship with mean LSR (R2 = 0·686), and there was no sign of curvilinearity within the observed range of RSR. RSR was also positively, although non-significantly, related to β-d…

Effect of customer heterogeneity on the relationship satisfaction–loyalty

2014

Abstract The need to study the differences among consumers due to their behavioural heterogeneity and the highly competitive consumer markets is recognized. In this paper, we analyse the potential heterogeneous shopping assessment in retail and how that experience may influence on consequent customer loyalty in a different way. The effects of satisfaction on attitudinal and behavioural loyalty and positive word of mouth are estimated by a finite-mixture structural equation model, and unobserved heterogeneity is analysed simultaneously. The results show that there are three latent segments where the strength of causal relationships differs which mean that there is an overestimation of the im…

Occupational exposure to extremely low frequency electric and magnetic fields and Alzheimer disease: a meta-analysis

2008

Background Among potential environmental risk factors for Alzheimer disease (AD), occupational exposures have received some attention, including extremely low frequency electromagnetic fields (ELF-EMF). A systematic review and meta-analysis of published epidemiological studies on this subject was carried out. Methods The search was concluded in April 2006. Bibliographic databases consulted included PubMed, EMBASE, Cochrane Library and NIOSHTIC2. Pooled estimates were obtained using random-effects meta-analysis. Sources of heterogeneity between studies were explored, as was publication bias. Results Fourteen different studies (nine case-control and five cohort studies) accomplished inclusion…