Search results for "RESONANCE"
showing 10 items of 6625 documents
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
2021
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Based on a French collaboration, we collected clinical features of 33 patients (21 females, 12 males, median age of 9.9 years) with MCAP carrying mosaic PIK3CA pathogenic variants. MRI images were reviewed for 21 pat…
Lipoprotein hydrophobic core lipids are partially extruded to surface in smaller HDL: "Herniated" HDL, a common feature in diabetes
2016
AbstractRecent studies have shown that pharmacological increases in HDL cholesterol concentrations do not necessarily translate into clinical benefits for patients, raising concerns about its predictive value for cardiovascular events. Here we hypothesize that the size-modulated lipid distribution within HDL particles is compromised in metabolic disorders that have abnormal HDL particle sizes, such as type 2 diabetes mellitus (DM2). By using NMR spectroscopy combined with a biochemical volumetric model we determined the size and spatial lipid distribution of HDL subclasses in a cohort of 26 controls and 29 DM2 patients before and after two drug treatments, one with niacin plus laropiprant a…
Comparison of US Strain Elastography and Entero-MRI to Typify the Mesenteric and Bowel Wall Changes during Crohn’s Disease: A Pilot Study
2017
Purpose. To evaluate and compare the mesenteric and bowel wall changes during Crohn’s disease (CD) on ultrasonography (US) Strain Elastography (SE) and Enterography Magnetic Resonance Imaging (E-MRI). Methods. From July 2014 to September 2016, 35 patients with ileocolonoscopy diagnosis of CD were prospectively examined with E-MRI and in the same time with US and SE. Results. A total of 41 affected bowel segments and 35 unaffected bowel segments in 35 patients were evaluated. US-SE color-scale coding showed a blue color pattern in the fibrotic mesentery and bowel wall in 15 patients and a green color pattern in the edematous ones in 20 patients. The signal of the bowel wall and mesenteric fa…
Treatment response to dimethyl fumarate is characterized by disproportionate CD8+ T cell reduction in MS
2017
Background: The effect of dimethyl fumarate (DMF) on circulating lymphocyte subsets and their contribution as predictors of clinical efficacy have not yet been investigated in multiple sclerosis (MS). Objective: To evaluate lymphocytes and lymphocyte subsets (analyzed 6 months after DMF start) in MS patients with and without disease activity after 1 year of treatment in a retrospective study. Methods: Peripheral blood lymphocyte subsets were analyzed by flow cytometry. Untreated MS patients ( n = 40) were compared to those 6 months after onset of DMF treatment ( n = 51). Clinical and magnetic resonance imaging (MRI) disease activity of DMF-treated patients were assessed in the first year un…
Direction-dependent activation of the insular cortex during vertical and horizontal hand movements
2016
International audience; The planning of any motor action requires a complex multisensory processing by the brain. Gravity - immutable on Earth - has been shown to be a key input to these mechanisms. Seminal fMRI studies performed during visual perception of falling objects and self-motion demonstrated that humans represent the action of gravity in parts of the cortical vestibular system; in particular, the insular cortex and the cerebellum. However, little is known as to whether a specific neural network is engaged when processing non-visual signals relevant to gravity. We asked participants to perform vertical and horizontal hand movements without visual control, while lying in a 3T-MRI sc…
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
2018
Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …
The relative contribution to the plantar-flexor torque of the soleus motor units activated by the H reflex and M response in humans.
2000
Abstract This study proposes a method of quantifying the relative contribution to the plantar-flexor torque of soleus H and M responses evoked by tibial nerve stimulation. For ten subjects, the amplitude of the twitch produced by the H wave was plotted against the corresponding potential, for stimuli producing H without M (i.e. in the ascending portion of the H-recruitment curve). It was then assumed that the contribution of H to twitches produced by M plus H was similar for similar H waves on the curve-descending portion. Hence, the contribution of M was estimated, for the range of M waves including those accompanying H max . The estimated mechanical contributions of H and M wave increase …
Virtual endoscopy of the inner ear and the auditory canal.
2000
To assess the role of virtual endoscopy (VE) in the examination of intracisternal structures and of the inner ear, we studied the anatomy of the labyrinth and internal auditory canal using the original CT slices and VE on the unaffected side in three female and three male patients, age range 3–46 years, with contralateral retrocochlear hearing loss. We also examined seven patients with different pathological findings. VE was performed using an advanced postprocessing program with high- resolution 3D data sets of CT (1–1.5 mm thickness, pitch 1.25) and MRI-CISS-3D (constructive interference in steady state) images of the basal cisterns (1.5 T, slice thickness 0.7–1 mm). VE provides an endosc…
Disturbed brain activation during a working memory task in drug-naive adult patients with ADHD.
2010
Neuroimaging studies in attention-deficit/hyperactivity disorder (ADHD) have shown abnormalities in several brain areas including the frontostriatal circuitry and were mostly conducted in children and adolescents. We investigated 30 never-medicated adult ADHD patients (16 males) and 30 matched healthy control individuals. Functional magnetic resonance imaging was acquired during a working memory paradigm (n-back). Group activation maps and group differences of activation were calculated using voxel-based analyses. The generic activation pattern was more extended in the control group. In ADHD patients, significantly decreased activation was found in the right inferior parietal cortex. Distur…