Search results for "FIX"
showing 10 items of 1335 documents
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…
Neurocognitive processing of auditorily and visually presented inflected words and pseudowords: Evidence from a morphologically rich language
2009
The aim of the study was to investigate how the input modality affects the processing of a morphologically complex word. The processing of Finnish inflected vs. monomorphemic words and pseudowords was examined during a lexical decision task, using behavioral responses and event-related potentials. The stimuli were presented in two modalities, visually and auditorily, to two groups of participants. Half of the words and pseudowords carried a case-inflection. At the behavioral level, the inflected words elicited a processing cost with longer decision latencies and higher error rates. At the neural level, pseudowords elicited an N400 effect, which was more pronounced in the visual modality. In…
Eyes open and eyes closed as rest conditions: impact on brain activation patterns
2003
The patterns of associated brain activations during eyes-open and eyes-closed states in complete darkness considerably differ in fMRI. An "interoceptive" state with the eyes closed is characterized by visual cortex activation, while an "exteroceptive" state with the eyes open is characterized by ocular motor system activity. The impact of the chosen rest condition (eyes open or eyes closed in complete darkness) on the pattern of brain activations during visual stimulation was evaluated in 14 healthy volunteers. During fixation or dim light room illumination, the activation of the visual cortex was larger with the eyes-open rest condition than with the eyes-closed rest condition; however, ac…
Associations of reading posture, gaze angle and reading distance with myopia and myopic progression
2016
Purpose To study the associations of habitual reading posture, gaze angle in reading and reading distance with myopia and changes in myopia among myopic children. Methods A total of 240 myopic schoolchildren (mean age 10.9 years), with no previous spectacles, were recruited during 1983–1984 to a randomized 3-year clinical trial of bifocal treatment of myopia. Three annual examinations with subjective cycloplegic refraction were conducted for 237–238 subjects. A further examination was conducted at the mean age of 23.2 years for 178 subjects. Habitual reading posture was elicited by questionnaire at study outset. Reading distance was measured with a Clement Clark accommodometer and gaze angl…
Generalization gradients for fear and disgust in human associative learning
2021
AbstractPrevious research indicates that excessive fear is a critical feature in anxiety disorders; however, recent studies suggest that disgust may also contribute to the etiology and maintenance of some anxiety disorders. It remains unclear if differences exist between these two threat-related emotions in conditioning and generalization. Evaluating different patterns of fear and disgust learning would facilitate a deeper understanding of how anxiety disorders develop. In this study, 32 college students completed threat conditioning tasks, including conditioned stimuli paired with frightening or disgusting images. Fear and disgust were divided into two randomly ordered blocks to examine di…
The important impact of dental care on haemostatic treatment burden in patients with mild haemophilia
2022
Background: Mild haemophilia (MH) is mainly characterized by haemorrhages secondary to surgery/invasive procedures or trauma. Haemostatic treatment in MH ranges from on demand to short prophylaxis according to the type of bleeding events and the basal clotting factor level. Oral surgery and dental extractions can represent a frequent haemostatic challenge in MH requiring appropriate treatment. However, only few studies on limited numbers of patients are available in the literature regarding the implications of dental management in patients with MH. Objectives: The purpose of the study was to evaluate the impact of dental care on the burden of haemostatic treatment in patients affected by MH…
Accident ahead? Difficulties of drivers with and without reading impairment recognising words and pictograms in variable message signs
2017
A timely and accurate acquisition of the information provided by variable message signs (VMS) can be crucial while driving. In the current study, we assess the difficulties of adults with dyslexia acquiring the information shown in VMS and provide evidence to discuss the controversial use of pictograms as potential countermeasures. Twenty-two adults with dyslexia and 22 matched controls completed a simulated driving session. The legibility of 12 VMS was assessed, including six text messages (e.g. "ACCIDENT") and six single pictograms (e.g. the icon for "accident ahead"). On average, participants with dyslexia started reading text messages when they were closer to the VMS. In addition, while…
Treatment of malar and midfacial fractures with osteoconductive forged unsintered hydroxyapatite and poly-L-lactide composite internal fixation devic…
2013
Purpose To evaluate the internal fixation of malar and midfacial fractures, long-term results, and biocompatibility of osteoconductive internal fixation devices composed of a forged composite of unsintered hydroxyapatite and poly-L-lactide (F-u-HA/PLLA). Materials and Methods From January 2006 to June 2010, 29 patients (24 males and 5 females; age 33 ± 15 years) were included in the present prospective study. The fracture type was malar in 24 patients, midfacial in 5, isolated orbital floor blowout in 2, and frontal sinus, cranial base in 2 patients. The fractures were fixed with internal fixation devices; these were plates and screws composed of F-u-HA/PLLA. The 24 patients with malar frac…
Attentional capture by emotional scenes across episodes in bipolar disorder: Evidence from a free-viewing task
2015
We examined whether the initial orienting, subsequent engagement, and overall allocation of attention are determined exogenously (i.e. by the affective valence of the stimulus) or endogenously (i.e. by the participant's mood) in the manic, depressive and euthymic episodes of bipolar disorder (BD). Participants were asked to compare the affective valence of two pictures (happy/threatening/neutral [emotional] vs. neutral [control]) while their eye movements were recorded in a free-viewing task. Results revealed that the initial orienting was exogenously captured by emotional images relative to control images. Importantly, engagement and overall allocation were endogenously captured by threate…
Inhibitory Control for Emotional and Neutral Scenes in Competition: An Eye-Tracking Study in Bipolar Disorder
2017
This study examined the inhibitory control of attention to social scenes in manic, depressive, and euthymic episodes of bipolar disorder (BD). Two scenes were simultaneously presented (happy/threatening/neutral [target] versus control). Participants were asked either to look at the emotional pictures (i.e., attend-to-emotional block) or to avoid looking at the emotional pictures (i.e., attend-to-neutral block) while their eye movements were recorded. The initial orienting (latency and percentage of first fixation) and subsequent attentional engagement (gaze duration) were computed. Manic patients showed a higher percentage of initial fixations on happy scenes than on the other scenes, regar…