Search results for "Axia"
showing 10 items of 638 documents
Evidence for early, non-lesional cerebellar damage in patients with multiple sclerosis: DTI measures correlate with disability, atrophy, and disease …
2015
Background: Common symptoms of multiple sclerosis (MS) such as gait ataxia, poor coordination of the hands, and intention tremor are usually the result of dysfunctionality in the cerebellum. Magnetic resonance imaging (MRI) has frequently failed to detect cerebellar damage in the form of inflammatory lesions in patients presenting with symptoms of cerebellar dysfunction. Objective: To detect microstructural cerebellar tissue alterations in early MS patients with a “normal appearing” cerebellum using diffusion tensor imaging (DTI). Methods: A total of 68 patients with relapsing–remitting MS (RRMS) and without cerebellar lesions and 26 age-matched healthy controls were admitted to high-resolu…
Encoding of human action in Broca's area.
2009
International audience; Broca's area has been considered, for over a century, as the brain centre responsible for speech production. Modern neuroimaging and neuropsychological evidence have suggested a wider functional role is played by this area. In addition to the evidence that it is involved in syntactical analysis, mathematical calculation and music processing, it has recently been shown that Broca's area may play some role in language comprehension and, more generally, in understanding actions of other individuals. As shown by functional magnetic resonance imaging, Broca's area is one of the cortical areas activated by hand/mouth action observation and it has been proposed that it may …
Cognitive and social cognitive functioning in spinocerebellar ataxia : a preliminary characterization
2006
INTRODUCTION : The spinocerebellar ataxias (SCAs), are rare neurodegenerative disorders caused by distinct genetic mutations. Clinically, the SCAs are characterised by progressive ataxia and a variety of other features, including cognitive dysfunction. The latter is consistent with a growing body of evidence supporting a cognitive as well as motor role for the cerebellum. Recent suggestions of cerebellar involvement in social cognition have not been extensively explored in these conditions. The availability of definitive molecular diagnosis allows genetically defined subgroups of SCA patients, with distinct patterns of cerebellar and extracerebellar involvement, to be tested comparatively u…
A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7.
2010
Over the last decade, studies have implicated the cerebellum not only in motor functioning, but also in cognition and social cognition. Although some aspects of cognition have been explored in the five most common forms of Spinocerebellar Ataxia (SCA), social cognition in these patients has rarely been examined. The present study provides a preliminary characterisation of the severity of cognitive and social cognitive impairments in patients with SCA2, SCA1 and SCA7 using an identical battery to the one previously used in SCA3 and SCA6 patients for comparison. The cognitive profiles of SCA1 and SCA7 patients were comparable to that of SCA6 patients; SCA1 patients had relatively intact profi…
Using Accelerometry for Evaluating Energy Consumption and Running Intensity Distribution Throughout a Marathon According to Sex
2020
The proportion of females participating in long-distance races has been increasing in the last years. Although it is well-known that there are differences in how females and males face a marathon, higher research may be done to fully understand the intrinsic and extrinsic factors affecting sex differences in endurance performance. In this work, we used triaxial accelerometer devices to monitor 74 males and 14 females, aged 30 to 45 years, who finished the Valencia Marathon in 2016. Moreover, marathon split times were provided by organizers. Several physiological traits and training habits were collected from each participant. Then, we evaluated several accelerometry- and pace-estimated para…
Intoxication with a tropenol ester.
2012
BACKGROUND While the effects of medicinal products are investigated in depth before approval, often very little is known about the intermediates occurring during synthesis. The pharmacological properties of these intermediates can differ substantially from those of the end product. AIMS To describe a work accident involving intoxication with such an intermediate, tropenol ester. CASE REPORT A healthy 40-year-old chemical-technical operative erroneously used a scrubbing brush that had just been used to clear up tropenol ester, contaminating his work clothes. Presumably, contact was made with his skin when removing his work clothes later. Shortly thereafter, he developed signs of anticholiner…
A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7
2016
Background The natural history of clinical symptoms in the spinocerebellar ataxias (SCA)s has been well characterised. However there is little longitudinal data comparing cognitive changes in the most common SCA subtypes over time. The present study provides a preliminary longitudinal characterisation of the clinical and cognitive profiles in patients with SCA1, SCA2, SCA3, SCA6 and SCA7, with the aim of elucidating the role of the cerebellum in cognition. Methods 13 patients with different SCAs all caused by CAG repeat expansion (SCA1, n = 2; SCA2, n = 2; SCA3, n = 2; SCA6, n = 4; and SCA7, n = 3) completed a comprehensive battery of cognitive and mood assessments at two time points, a mea…
Biaxial Microincision versus Coaxial Small-Incision Clear Cornea Cataract Surgery
2005
Objective To compare clinical outcomes of biaxial microincision (1.5 mm) and coaxial small-incision (2.75 mm) clear cornea cataract surgery. Design Randomized controlled clinical trial. Participants Seventy eyes of 70 patients were examined at a German university eye hospital. Intervention The 70 patients (70 eyes) were assigned randomly (1:1) to a biaxial or conventional coaxial incision group. Both groups underwent phacoemulsification using pulsed ultrasound energy with variable duty cycles, followed by microincision intraocular lens implantation. Main Outcome Measures Best-corrected visual acuity (BCVA), astigmatism, laser flare photometry value, effective phacoemulsification time (EPT),…
Optical coherence tomography of macular thickness after biaxial vs coaxial microincision clear corneal cataract surgery
2009
PURPOSE To evaluate macular thickness changes after biaxial microincision versus coaxial small incision cataract surgery using optical coherence tomography (OCT). METHODS This prospective, randomized, marked study comprised 70 patients (70 eyes) undergoing biaxial microincision surgery or conventional coaxial phacoemulsification. Patients were evaluated by Stratus OCT preoperatively and 1 day, 4 weeks, and 8 weeks postoperatively. Best-corrected visual acuity (BCVA), phacoemulsification power, and effective phacoemulsification time (EPT) were evaluated. RESULTS In the biaxial group, median foveal thickness changed from 160 microm preoperatively to 168 microm 8 weeks postoperatively (p=0.018…
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …