Search results for "EXPA"
showing 10 items of 820 documents
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
1997
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…
Atraumatic maxillary sinus elevation using threaded bone dilators for immediate implants. A three-year clinical study.
2008
Objective: The aim of this study was to evaluate the efficacy of sinus floor elevation using sequential bone dilators. Materials and Methods: Thirty patients took part in the study (18 women and 12 men) with ages ranging between thirty-six and sixty-three years, selected according to inclusion and exclusion criteria, who showed a bone deficit in the upper posterior alveolar margin of 5-8 mm in height. Sixty expanded platform internal connection implants were placed with diameters of 4/5/4 mm and lengths varying between 10 (n=10) and 11.5 mm (n= 50). Results: Data obtained were analyzed using SPSS 15.0 software. The average intra-sinus bone gain with MP3 biomaterial of porcine origin was 4.1…
Evidence for a white matter lesion size threshold to support the diagnosis of relapsing remitting multiple sclerosis
2018
Abstract Background The number of white matter lesions (WML) in brain MRI is the most established paraclinical tool to support the diagnosis of multiple sclerosis (MS) and to monitor its course. Diagnostic criteria have stipulated a minimum detectable diameter of 3 mm per WML, although this threshold is not evidence-based. We aimed to provide a rationale for a WML size threshold for three-dimensional MRI sequences at 3 T by comparing patients with relapsing-remitting MS (RRMS) to control subjects (CS). Methods We analyzed MR images from two cohorts, obtained at scanners from two different vendors, each comprising patients with RRMS and CS. Both cohorts were examined with FLAIR and T1w seque…
Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: A TMS study
2005
The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT …
Intravenous immunoglobulin in primary and secondary chronic progressive multiple sclerosis: a randomized placebo controlled multicentre study
2007
In patients with relapsing-remitting multiple sclerosis (MS), IVIG was shown to reduce the relapse rate and progression of disability. In patients with chronic progressive MS, a beneficial effect of IVIG was not documented in placebo controlled studies. This trial investigated the influence of IVIG in primary (PPMS) and secondary (SPMS) chronic progressive MS. Two-hundred and thirty-one patients stratified for PPMS ( n = 34) and SPMS ( n = 197) were randomly assigned to IVIG 0.4 g/kg per month or to placebo for 24 months. Primary endpoints were 1) the time to sustained progression of disease identified as worsening of the expanded disability status scale (EDSS) sustained for 3 months, and …
Clinical and magnetic resonance imaging predictors of disease progression in multiple sclerosis: a nine-year follow-up study.
2014
Objective: The objective of this paper is to identify clinical or magnetic resonance imaging (MRI) predictors of long-term clinical progression in a large cohort of multiple sclerosis (MS) patients. Methods: A total of 241 relapsing–remitting (RR) MS patients were included in a nine-year follow-up (FU) study. The reference MRIs were acquired at baseline (BL) as part of a multicenter, cross-sectional, clinical-MRI study. Volumetric MRI metrics were measured by a fully automated, operator-independent, multi-parametric segmentation method. Clinical progression was evaluated as defined by: conversion from RR to secondary progressive (SP) disease course; progression of Expanded Disability Status…
Multiple sclerosis severity score: Using disability and disease duration to rate disease severity
2005
Background: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of the disease. Methods: Using data from two large longitudinal databases, the authors tested whether cross-sectional disability assessments are representative of disease severity as a whole. An algorithm, the Multiple Sclerosis Severity Score (MSSS), which relates scores on the Expanded Disability Status Scale (EDSS) to the distribution of disability in patients with comparable disease durations, was devised and then applied to a collection of 9,892 patients from 11 countries to create the Global MSSS. I…
Exercise Diminishes Plasma Neurofilament Light Chain and Reroutes the Kynurenine Pathway in Multiple Sclerosis
2020
ObjectiveTo examine acute (single-bout) and training effects of high-intensity interval training (HIIT) vs standard exercise therapy (moderate continuous training [MCT]) on plasma neurofilament light chain (pNfL) and kynurenine (KYN) pathway of tryptophan degradation metabolites in persons with multiple sclerosis (pwMS).MethodsSixty-nine pwMS (Expanded Disability Status Scale score 3.0–6.0) were randomly assigned to a HIIT or an MCT group. Changes in pNfL and KYN pathway metabolites measured in blood plasma were assessed before, after, and 3 hours after the first training session as well as after the 3-week training intervention.ResultsAcute exercise reduced pNfL and increased the KYN pathw…
EDSS correlated analysis of median nerve somatosensory evoked potentials in multiple sclerosis
2001
Median nerve somatosensory evoked potentials (SEP) were recorded in 30 patients with multiple sclerosis. The examined patients had an expanded disability status scale (EDSS) between 0 and 6. The primary cortical potential N20, the subcortical potentials P14, N13b, N13a and the peripheral potential P9 were recorded simultaneously. In 5 patients normal SEP were observed (group 1), and in 6 patients there were consecutive disturbances of the somatosensory pathway (group 3). In 19 patients subcortical potentials were abnormal or absent while the following potentials were normal or identified which pattern corresponds to amplification within CNS structures (group 2). The EDSS of groups 1 and 2 w…
Electrophysiological patterns of oropharyngeal swallowing in multiple sclerosis.
2012
Abstract Objective We performed an electrophysiological study of swallowing (EPSS) in multiple sclerosis (MS) to describe oropharyngeal swallowing abnormalities and to analyze their correlations with dysphagia and with overall neurological impairment. Methods Neurological examinations were quantified using the Kurtzke Functional Systems and the Expanded Disability Status Scale (EDSS). Dysphagia was evaluated using the Dysphagia in Multiple Sclerosis (DYMUS) questionnaire, while fiberoptic endoscopic evaluation of swallowing (FEES) was used to establish the degree of aspiration and penetration, graded using the penetration–aspiration scale (PAS). The EPSS measured the duration of suprahyoid/…