Search results for "PROB"
showing 10 items of 8859 documents
BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases
2008
Male breast cancer (MBC) is a rare and poorly known disease. Germ-line mutations of BRCA2 and, to lesser extent, BRCA1 genes are the highest risk factors associated with MBC. Interestingly, BRCA2 germ-line rearrangements have been described in high-risk breast/ovarian cancer families which included at least one MBC case. Germ-line mutations of CHEK2 gene have been also implicated in inherited MBC predisposition. The CHEK2 1100delC mutation has been shown to increase the risk of breast cancer in men lacking BRCA1/BRCA2 mutations. Intriguingly, two other CHEK2 mutations (IVS2+1G>A and I157T) and a CHEK2 large genomic deletion (del9-10) have been associated with an elevated risk for prostate c…
The heterogeneity of changes in incidence and survival among lymphoid malignancies in a 30-year French population-based registry.
2014
Our specialized population-based registry has allowed us to explore changes in incidence and survival by subtype over the last 30 years. Between 1980 and 2009, 4790 cases of lymphoid malignancies were registered using the International Classification of Diseases for Oncology. The incidence rate of lymphoid malignancies was 20.5 per 100,000 inhabitants per year, and ranged from 0.1 to 4 according to subtype. Five-year net survival was 65%, and ranged from 41% to 93% according to subtype. We observed an increase in 5-year net survival between the periods 1980-1989 and 2000-2009 (58% vs. 70%). This was observed in most but not all subtypes. Our long-standing population-based registry allowed u…
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
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…
Numbers and time doubly dissociate
2011
The magnitude dimensions of number, time and space have been suggested to share some common magnitude processing, which may imply symmetric interaction among dimensions. Here we challenge these suggestions by presenting a double dissociation between two neuropsychological patients with left (JT) and right (CB) parietal lesions and selective impairment of number and time processing respectively. Both patients showed an influence of task-irrelevant number stimuli on time but not space processing. In JT otherwise preserved time processing was severely impaired in the mere presence of task-irrelevant numbers, which themselves could not be processed accurately. In CB, impaired temporal estimatio…
Task relevance and recognition of concealed information have different influences on electrodermal activity and event-related brain potentials.
2009
This study aimed at differentiating between memory- and task-related processes and their correlates on the electrodermal and electrocortical level during information concealment. Variations of the Guilty Knowledge Test were implemented in two experiments while we measured skin conductance responses (SCRs) and event-related brain potentials. P300 amplitudes were specifically enhanced for items requiring a deviant behavioral response but they were not sensitive to concealed knowledge. In contrast, N200 amplitudes differed between memorized and irrelevant items in both experiments. SCR measures reflected a combined influence of task relevance and probe recognition, and they provided incrementa…
The what and how of observational learning
2007
Abstract Neuroimaging evidence increasingly supports the hypothesis that the same neural structures subserve the execution, imagination, and observation of actions. We used repetitive transcranial magnetic stimulation (rTMS) to investigate the specific roles of cerebellum and dorsolateral prefrontal cortex (DLPFC) in observational learning of a visuomotor task. Subjects observed an actor detecting a hidden sequence in a matrix and then performed the task detecting either the previously observed sequence or a new one. rTMS applied over the cerebellum before the observational training interfered with performance of the new sequence, whereas rTMS applied over the DLPFC interfered with performa…
Is an attention-based associative account of adjacent and nonadjacent dependency learning valid?
2014
Pacton and Perruchet (2008) reported that participants who were asked to process adjacent elements located within a sequence of digits learned adjacent dependencies but did not learn nonadjacent dependencies and conversely, participants who were asked to process nonadjacent digits learned nonadjacent dependencies but did not learn adjacent dependencies. In the present study, we showed that when participants were simply asked to read aloud the same sequences of digits, a task demand that did not require the intentional processing of specific elements as in standard statistical learning tasks, only adjacent dependencies were learned. The very same pattern was observed when digits were replace…
Exploring the Enjoyment of Playing Browser Games
2009
Browser games--mostly persistent game worlds that can be used without client software and monetary cost with a Web browser--belong to the understudied digital game types, although they attract large player communities and motivate sustained play. The present work reports findings from an online survey of 8,203 players of a German strategy browser game ("Travian"). Results suggest that multiplayer browser games are enjoyed primarily because of the social relationships involved in game play and the specific time and flexibility characteristics ("easy-in, easy-out"). Competition, in contrast, seems to be less important for browser gamers than for users of other game types. Findings are discuss…
Determinants of leisure-time physical activity and future intention to practice in Spanish college students
2009
Few studies analyze determinants and patterns of physical activity among college students, so it has not been possible to carry out effective interventions to promote this practice. The aim of this study was to analyze the associations between some personal, social, and environmental determinants, practice of physical activity and future intention to practice in a sample of 639 university students (321 men and 318 women), mean age 21.43 years (+/- 2.78). Physical fitness self-perception, physical activity history, and coach's support to practice physical activity have a direct effect on the practice of physical activity and an indirect effect on future intention to practice, both in men and…