Search results for "comparative"
showing 10 items of 1371 documents
Predictive chromosomal clusters of synchronous and metachronous brain metastases in clear cell renal cell carcinoma
2014
Synchronous (early) and metachronous (late) brain metastasis (BM) events of sporadic clear cell renal cell carcinoma (ccRCC) (n = 148) were retrospectively analyzed using comparative genomic hybridization (CGH). Using oncogenetic tree models and cluster analyses, chromosomal imbalances related to recurrence-free survival until BM (RFS-BM) were analyzed. Losses at 9p and 9q appeared to be hallmarks of metachronous BM events, whereas an absence of detectable chromosomal changes at 3p was often associated with synchronous BM events. Correspondingly, k-means clustering showed that cluster 1 cases generally exhibited low copy number chromosomal changes that did not involve 3p. Cluster 2 cases ha…
Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors.
2007
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. The tumors characteristically harbor KIT or PDGFRA mutations, and mutant tumors respond to imatinib mesylate (Glivectrade mark). Chromosomal imbalances resulting in altered gene dosage are known to have a role in the molecular pathogenesis of these tumors, but the target genes remain to be identified. The present study aimed to identify some of these genes. In total, 35 GIST samples were screened for chromosomal imbalances by array-based comparative genomic hybridization. A cDNA array was used to define the minimal common overlapping areas of DNA copy number change. Eight confirmative, …
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 …
Narrow Band Imaging
2015
Objectives: Narrow band imaging (NBI) is supposed to be a technique for a better visualization of vessel structures in superficial tissue as it selects the wavelengths of hemoglobin. It was hypothesized that, in the regular follow-up examination of patients with recurrent laryngeal papillomatosis, NBI enables a better detection of laryngeal papillomatosis in contrast to normal white light endoscopy. Methods: Eleven patients, 10 with a known recurrent papillomatosis (8 with a relapse, 2 without) and 1 with a primary diagnosis of papillomatosis, were examined with normal white light and NBI endoscopy. Twenty-six video sequences (11 white, 11 NBI, 4 doubled for validity) were generated and ran…
Sex differences in autonomic response and situational appraisal of a competitive situation in young adults.
2017
Competition is a social stressor capable of eliciting physiological responses modulated by the outcome. The main objective of this study was to analyze the psychophysiological changes associated with competition and its outcome in men and women, taking into account the role of situational appraisal. To this end, 112 young people (46 men and 66 women) participated in a laboratory task in a competitive or non-competitive condition, while Blood Pressure (BP), Heart Rate Variability (HRV), and Skin Conductance (SC) responses were measured. Our results indicate that competition elicits higher systolic blood pressure (SBP) than a non-competitive task; in addition, winners presented a greater R-R …
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…
Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization
2007
OBJECTIVE: Exstrophy of the bladder (EB) is part of the bladder-exstrophy-epispadias complex (BEEC). Because familial occurrence of BEEC is rare, exogenous factors are thought to play a major role in the etiology of most BEEC cases. We aimed to investigate a possible genetic basis of BEEC in a consanguineous kindred of Moroccan origin with three members showing the same phenotypic expression of BEEC. PATIENTS AND METHODS: The three affected males (two cousins and their maternal uncle) all presenting with nonsyndromic classic EB, were born in Morocco or The Netherlands. One Moroccan patient had an open bladder surface for 22 years due to late surgical reconstruction, avoided upright posture …
Effects of Acute Stress on Decision Making under Ambiguous and Risky Conditions in Healthy Young Men.
2016
AbstractAcute stress and decision making (DM) interact in life – although little is known about the role of ambiguity and risk in this interaction. The aim of this study is to clarify the effect of acute stress on DM under various conditions. Thirty-one young healthy men were randomly distributed into two groups: experimental and control. DM processes were evaluated before and after an experimental session. For the experimental group, the session consisted of an acute stress battery; and the protocol was similar for the control group but the instructions were designed to minimize acute stress. Cardiovascular variables were continuously recorded 30 minutes before the DM tasks and during the …
Assessing thoraco-pelvic covariation in Homo sapiens and Pan troglodytes: A 3D geometric morphometric approach
2019
[Objectives]: Understanding thoraco-pelvic integration in Homo sapiens and their closest living relatives (genus Pan) is of great importance within the context of human body shape evolution. However, studies assessing thoraco-pelvic covariation across Hominoidea species are scarce, although recent research would suggest shared covariation patterns in humans and chimpanzees but also species-specific features, with sexual dimorphism and allometry influencing thoraco-pelvic covariation in these taxa differently.
Childhood adaptation: Perception of the parenting style and the anxious‐depressive symptomatology
2020
Objectives Childhood adaptation is essential for proper social-emotional development. Children growing up in a family context where they feel supported and protected are less vulnerable in the presence of psychopathology. The aim of this study is analysing the impact of parenting styles and the anxious-depressive symptoms on child adaptation. Design and setting A total of 367 children between the ages of 10 and 12, following a similar distribution by sex. The children completed self-reports assessing parenting styles, child adaptation, and depressive-anxiety symptomatology. Methods The data were analysed using two complementary methodologies: linear regressions and fuzzy-set qualitative com…