Search results for "Features"
showing 10 items of 263 documents
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
2016
Background BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
Qualitative differences in the exploration of upright and upside-down faces in four-month-old infants : An eye-movement study
2006
The goal of this study was to test if apprentice readers (6-7 to 7-8 years old) and beginner readers (8-9 to 10-11 years old) perceive syllabic units in written words. The paradigm of illusory conjunctions was used because it can determine the infra-lexical units identified at the first steps of the written stimuli process. Two experiments were conducted on children from the first (6-7 years old) to the last years (10-11 years old) of the learning-to-read process. Results have shown that children perceive syllables in letter sequences as soon as the end of the first year of the learning-to-read process. The perception of these units is the result of two information sources: the syllabic pho…
Action Representation in Patients with Bilateral Vestibular Impairments
2011
During mental actions subjects feel themselves performing a movement without any corresponding motor output. Although broad information is available regarding the influence of central lesions on action representation, little is known about how peripheral damages affect mental events. In the current study, we investigated whether lack of vestibular information influences action representation. Twelve healthy adults and twelve patients with bilateral vestibular damage actually performed and mentally simulated walking and drawing. The locomotor paths implied one (first walking task) and four (second walking task) changes in the walking direction. In the drawing task, participants drew on a she…
Skeletal features in patient affected by maxillary canine impaction
2013
Objective: To analyze the skeletal features of patients with maxillary canine impaction. Material and Methods: The complete pre-treatment records of 1674 orthodontic patients were examined. From the subjects with maxillary impacted canine 12 patients were excluded , remaining 108. The subjects with maxillary impacted canine were divided into two study groups: a palatally displaced canine group (PDCG) (77 patients) and a buccally displaced canine group (BDCG) (31 patients). The values of the skeletal features measured on the lateral cephalometric radiograph were compared with a control group (CG) of 121 subjects randomly selected from the initial sample without maxillary canine impaction. Th…
Is female-male mounting functional? An analysis of the temporal patterns of sexual behaviors in Japanese macaques
2019
Abstract In certain populations of Japanese macaques, adult females mount adult males in the context of heterosexual consortships (i.e., temporary but exclusive sexual associations between a male and a female). Previous research suggested that, in this primate species, female-male mounting (FMM) may be a behavioral adaptation. This functional hypothesis holds that FMM is a (special) courtship behaviour, or a (super) sexual solicitation, that serves the function of focusing the male's attention, preventing him from moving away, and expediting male-female mounting, in the context of high female competition for male mates. In this study, we aimed to test some of the proposed functional feature…
Developmental changes in the microgenesis of face perception revealed by effects of context and inversion
2011
AbstractPresent studies on the development of face perception mechanisms are ambiguous about the question of whether holistic face vision arises early, or in the second decade of life (Crookes & McKone, 2009). Measuring the time course of face matching we assess effects of context and inversion as correlates of holistic processing in the microgenesis of face perception within the first 650ms, and compare among 8- to 10-year-old children and adults. Results for adults indicate dominance of holistic viewing at brief timings, which is gradually replaced by feature selective strategies enabling them to selectively attend either internal or external features, as demanded by instruction. For chil…
Prognostic Role of Mismatch Repair Status, Histotype and High-Risk Pathologic Features in Stage II Small Bowel Adenocarcinomas
2020
Abstract Background Small bowel adenocarcinoma is a relatively rare cancer, often diagnosed in an advanced stage. In localized and resectable disease, surgery alone or in combination with adjuvant chemotherapy is the mainstay of treatment. In the recently published National Comprehensive Cancer Network Clinical Practice guidelines, criteria for selecting patients with stage II small bowel adenocarcinoma to receive adjuvant chemotherapy are provided, and they are mainly extrapolated from studies on colorectal cancer. Patients and Methods In the present study, we aimed to verify whether mismatch repair deficiency phenotype, high-risk pathologic features (including T4, positive resection margi…
The reliability of continuous brain responses during naturalistic listening to music
2015
Low-level (timbral) and high-level (tonal and rhythmical) musical features during continuous listening to music, studied by functional magnetic resonance imaging (fMRI), have been shown to elicit large-scale responses in cognitive, motor, and limbic brain networks. Using a similar methodological approach and a similar group of participants, we aimed to study the replicability of previous findings. Participants' fMRI responses during continuous listening of a tango Nuevo piece were correlated voxelwise against the time series of a set of perceptually validated musical features computationally extracted from the music. The replicability of previous results and the present study was assessed b…
The role of pain and functional impairment in the decision to recommend total joint replacement in hip and knee osteoarthritis: an international cros…
2011
Import JabRef | WosArea Orthopedics; Rheumatology; International audience; Objective: To assess the pain and functional disability levels corresponding to an indication for total joint replacement (TJR) in hip and knee osteoarthritis (OA). Methods: Design: International cross-sectional study in 10 countries. Patients: Consecutive outpatients with definite hip or knee OA attending an orthopaedic outpatient clinic. Gold standard measure for recommendation for TJR: Surgeon's decision that TJR is justified. Outcome measures: Pain (ICOAP: intermittent and constant osteoarthritis pain, 0-100) and functional impairment (HOOS-PS/KOOS-PS: Hip/Knee injury and Osteoarthritis Outcome Score Physical fun…