11 research outputs found
Neurological characteristics and detected changes in brain MRI and PET-CT studies in patients with Wolfram syndrome.
<p>Neurological characteristics and detected changes in brain MRI and PET-CT studies in patients with Wolfram syndrome.</p
Central Nervous System PET-CT Imaging Reveals Regional Impairments in Pediatric Patients with Wolfram Syndrome
<div><p>Wolfram syndrome (WFS) is inherited as an autosomal recessive disease with main clinical features of diabetes mellitus, optic atrophy, diabetes insipidus and deafness. However, various neurological defects may also be detected. The aim of this study was to evaluate aspects of brain structure and function using PET-CT (positron emission tomography and computed tomography) and MRI (magnetic resonance imaging) in pediatric patients with WFS. Regional changes in brain glucose metabolism were measured using standardized uptake values (SUVs) based on images of (<sup>18</sup>F) fluorodeoxyglucose (FDG) uptake in 7 WFS patients aged 10.1–16.0 years (mean 12.9±2.4) and in 20 healthy children aged 3–17.9 years (mean 12.8±4.1). In all patients the diagnosis of WFS was confirmed by DNA sequencing of the <i>WFS1</i> gene. Hierarchical clustering showed remarkable similarities of glucose uptake patterns among WFS patients and their differences from the control group. SUV data were subsequently standardized for age groups <13 years old and>13 years old to account for developmental differences. Reduced SUVs in WFS patients as compared to the control group for the bilateral brain regions such as occipital lobe (−1.24±1.20 <i>vs.</i> −0.13±1.05; p = 0.028) and cerebellum (−1.11±0.69 <i>vs.</i> −0.204±1.00; p = 0.036) were observed and the same tendency for cingulate (−1.13±1.05 <i>vs.</i> −0.15±1.12; p = 0.056), temporal lobe (−1.10±0.98 <i>vs.</i> −0.15±1.10; p = 0.057), parietal lobe (−1.06±1.20 <i>vs.</i> −0.08±1.08; p = 0.058), central region (−1.01±1.04 <i>vs.</i> −0.09±1.06; p = 0.060), basal ganglia (−1.05±0.74 <i>vs.</i> −0.20±1.07; p = 0.066) and mesial temporal lobe (−1.06±0.82 <i>vs.</i> −0.26±1.08; p = 0.087) was also noticed. After adjusting for multiple hypothesis testing, the differences in glucose uptake were non-significant. For the first time, regional differences in brain glucose metabolism among patients with WFS were shown using PET-CT imaging.</p></div
Signal intensity profiles in particular areas of the brain based on hierarchical clustering analysis.
<p>The red bar above the chart represents SUV values observed in the examined individuals.</p
Differences in mean SUVs for selected main brain regions between WFS patients.
<p>and a control group (standardized bilateral data).</p><p>Differences in mean SUVs for selected main brain regions between WFS patients.</p
Differences in FDG uptake in PET-CT scans of the brain between a healthy child (a) and WFS6 patient (b) and small lesions in MRI scans in WFS6 patient in the paraventricular white matter (c) and brain stem (d).
<p>Differences in FDG uptake in PET-CT scans of the brain between a healthy child (a) and WFS6 patient (b) and small lesions in MRI scans in WFS6 patient in the paraventricular white matter (c) and brain stem (d).</p
Mean SUV and SD values (standardized for age) for the right and left cerebellum hemispheres in WFS and control groups.
<p>Mean SUV and SD values (standardized for age) for the right and left cerebellum hemispheres in WFS and control groups.</p
Mean SUV and SD values (standardized for age) for the right and left occipital lobes in WFS and control groups.
<p>Mean SUV and SD values (standardized for age) for the right and left occipital lobes in WFS and control groups.</p
Clinical and genetic characteristics of patients with Wolfram syndrome (16, 30).
<p>*according to Human Gene Mutation Database; accession No: CM 982041.</p>#<p>a patient with a first description in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0115605#pone.0115605-Zmyslowska1" target="_blank">[16]</a>.</p>##<p>a patient with a first description in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0115605#pone.0115605-Zmyslowska2" target="_blank">[30]</a>.</p><p>Clinical and genetic characteristics of patients with Wolfram syndrome (16, 30).</p
Additional file 1: Table S1. of Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Mutations responsible for the TSC phenotype in the study group. Reference sequences for TSC2 (NM_000548.3; NP_000539.2) and TSC1 (NM_000368.4; NP_000359.1) were used. (DOCX 17 kb
Additional file 2: Table S2. of Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications
Univariate comparison results of miRNA expression in patients with tuberous sclerosis (TSC) before treatment and the control group. (XLSX 25 kb