M. Gisele Matheus

Medical University of South Carolina, Charleston, South Carolina, United States

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Publications (12)16.68 Total impact

  • Maria Gisele Matheus · Rebecca K Lehman · Leonardo Bonilha · Kenton R Holden
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    ABSTRACT: X-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylate transporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life with neurodevelopment delays but have pleasant dispositions and commonly have elevated serum triiodothyronine. They also have marked axial hypotonia and quadriparesis but surprisingly little spasticity early in their disease course. They do, however, have subtle involuntary movements, most often dystonia. The combination of hypotonia and dystonia presents a neurorehabilitation challenge and explains why spasticity-directed therapies have commonly produced suboptimal responses. Our aim was to better define the spectrum of motor disability and to elucidate the neuroanatomic basis of the motor impairments seen in MCT8 deficiency using clinical observation and brain magnetic resonance imaging (MRI) in a cohort of 6 affected pediatric patients. Our findings identified potential imaging biomarkers and suggest that rehabilitation efforts targeting dystonia may be more beneficial than those targeting spasticity in the prepubertal pediatric MCT8 deficiency population. © The Author(s) 2015.
    No preview · Article · Apr 2015 · Journal of child neurology
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    ABSTRACT: Background: There are limited data on the specific mechanisms of stroke in patients with intracranial atherosclerotic stenosis (ICAS). We undertook this study to describe infarct patterns and likely mechanisms of stroke in a large cohort of patients with ICAS, and to evaluate the relationship of these infarct patterns to angiographic features (collaterals, stenosis location and stenosis severity). Methods: We evaluated infarct patterns in the territory of a stenotic intracranial artery on neuroimaging performed at baseline and during follow-up if a recurrent stroke occurred in patients enrolled in the Warfarin-Aspirin Symptomatic Intracranial Disease (WASID) trial. We defined the likely mechanism of stroke (artery-to-artery embolism, perforator occlusion, hypoperfusion or mixed) according to the site of ICAS and based on the infarct patterns on neuroimaging. Collaterals were assessed using American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology (ASITN/SIR) grades, and stenosis severity using the WASID trial's measurement technique. We evaluated the association of infarct patterns with angiographic features using χ(2) tests. Results: The likely mechanisms of stroke based on the infarct patterns at baseline in the 136 patients included in the study were artery-to-artery embolism (n = 69; 50.7%), perforator occlusion (n = 34; 25%), hypoperfusion (n = 12; 8.8%) and mixed (n = 21; 15.5%). Perforator-occlusive infarcts were more frequent in the posterior circulation, and mixed patterns were more prevalent in the anterior circulation (both p < 0.01). Most of the mixed patterns in the anterior circulation combined small pial or scattered multiple cortical infarcts with infarcts in border-zone regions, especially the cortical ones. Isolated border-zone infarcts were not significantly associated with a poor grading for collaterals or the severity of stenosis. Among 47 patients with a recurrent infarct during follow-up, the infarct patterns suggested an artery-to-artery embolic mechanism in 29 (61.7%). Conclusions: Artery-to-artery embolism is probably the most common mechanism of stroke in both the anterior and the posterior circulations in patients with ICAS. An extension of intracranial atherosclerosis at the site of stenosis into adjacent perforators also appears to be a common mechanism of stroke, particularly in the posterior circulation, whereas hypoperfusion as the sole mechanism is relatively uncommon. Further research is important to accurately establish the specific mechanisms of stroke in patients with ICAS, since preliminary data suggest that the underlying mechanism of stroke is an important determinant of prognosis.
    No preview · Article · Jul 2014 · Cerebrovascular Diseases
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    ABSTRACT: Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology.
    No preview · Article · Jul 2013 · Journal of child neurology
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    ABSTRACT: Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran patients who carried the same novel homozygous nonsense mutation (c.1309A>T, p.K437X) and ALDH3A2 DNA haplotype, but widely differed in disease severity. One patient exhibited spastic quadriplegia with unusual neuroregression, whereas the other patient had the usual static form of spastic diplegia with neurodevelopmental disabilities. Biochemical analyses showed a similar profound deficiency of fatty aldehyde dehydrogenase activity and impaired fatty alcohol metabolism in both patients' cultured fibroblasts. These results indicate that variation in the neurologic phenotype of Sjögren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or the biochemical defect as expressed in cultured fibroblasts, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.
    No preview · Article · Oct 2012 · Journal of child neurology
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    ABSTRACT: Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly. The duplicated genetic segment was contained entirely within the first intron of LIS1, a segment that often contains inducers of transcription. Normal gyral patterns with mild volume loss were observed at birth. Follow-up cranial imaging revealed further white matter loss, diminished sulcation, and ventriculomegaly, suggesting expanding hydrocephalus ex vacuo. The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined.
    No preview · Article · Dec 2011 · Journal of child neurology
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    ABSTRACT: PURPOSE To examine white matter tract abnormalities related to schizophrenia using a new diffusion MRI technique, called Diffusional Kurtosis Imaging (DKI), which allows for the assessment of non-Gaussian diffusion thereby providing a more detailed analysis of cerebral cyto-architecture. METHOD AND MATERIALS T1-weighted magnetization-prepared rapid gradient echo (MPRAGE) and DKI images were obtained for schizophrenia patients (n = 11; age = 50.8 ± 11.1) and age/gender matched normal controls (n = 8; age = 49.3 ± 13.7) with a 3-Tesla MRI system. DKI data were acquired using an echo planar imaging (EPI) diffusion sequence with six b values (b=0, 500, 1000, 1500, 2000, 2500 s/mm2) and 30 diffusion encoding directions. DKI is an extension of diffusion weighted imaging (DWI) that allows one to obtain both diffusion and kurtosis tensors. In this study we calculate the fractional anisotropy (FA) and mean diffusivity (MD) using both DTI and DKI approaches as well as the mean kurtosis (MK) for comparison. All parametric maps were registered to a template and normalized. Images were smoothed and submitted to voxel-wise analysis with a two sided t-test and with an individual voxel threshold of p = 0.001 and cluster extent threshold of 100 voxels. All image processing and statistical analysis was performed on SPM-8. RESULTS Several brain areas in schizophrenic patients showed decreased MK, FA DTI and FA DKI. FA DKI demonstrated five clusters, which may translate disorganization/dysfunction of connectivity, in the left superior temporal gyrus, basal ganglia and occipital area (Uncinate and Fronto-Occipital tracts topography) and surprisingly right pre-frontal area. There were no significant regions identified by MD. FADKI detected more areas of significantly altered white matter than FADTI using threshold of p=0.001. CONCLUSION This preliminary data demonstrates that DKI (FADKI) is able to identify more areas of significantly altered white matter and may be a more sensitive technique to detect possible cyto-architecture changes than (FADTI). This is expected since a DKI data set sample is acquired with more directions and broad as well as higher ranges of b-values. CLINICAL RELEVANCE/APPLICATION Water diffusivity in complex environments such as brain is non-Gaussian. Therefore, methods that account for this behavior like DKI provide a better understanding of neuronal cyto-architecture.
    No preview · Conference Paper · Nov 2011
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    ABSTRACT: BACKGROUND CTDIvol values (and hence incident radiation) for routine Head CT exams often vary from one scanner to another within an institution. We investigate the effect of varying dose (CTDIvol) on the diagnostic image quality in routine head CT exams. EVALUATION One hundred and twenty head CT images from six different scanners of our department were retrospectively examined. All exams chosen for the study had been interpreted as normal by a neuroradiologist. From each exam, two slices, one at the level of basal ganglia and one at the level of the fourth ventricle were selected for evaluation. For each image, the dose (CTDIvol) was noted from the examination dose report. Images were examined by three experienced neuroradiologists, on a standard reading room workstation. Each reader was shown the 120 images without patient demographic information in a randomized manner. Readers were allowed to change window / level settings as would be done normally during routine image interpretation. Readers assigned a score ranging from 1 to 5 (1 = unacceptable, 2 = barely satisfactory, 3 = satisfactory, 4 = good, 5 = excellent). Once all the images had been evaluated by all readers the scores and corresponding CTDIvol for each image were tabulated for comparison and analysis. 12 average scores (6 scanners x 2 slice locations), were plotted as a function of the CTDIvol for each reader. To assess the average trend, scores from all readers were pooled, averaged and also plotted as a function of CTDIvol. DISCUSSION CTDIvol values for the six scanners ranged from 60 mGy to 75 mGy. 25% of the raw scores had a value of 2 (barely acceptable), while 75% of the scores ranged from 3 to 5 implying a satisfactory to excellent image quality. None of the images had a raw score of 1 (unacceptable). Although increasing the CTDIvol from 60 to 75 mGy (+ 25%) changed the corresponding pooled average score from 3.0±0.8 to 3.3±1.0 (+10%), the uncertainty (standard deviation) in the data, indicates no statistical difference in the two scores. CONCLUSION Reducing the CTDIvol from 75 to 60 mGy maintains diagnostically acceptable image quality while reducing radiation dose to the patient. FIGURE (OPTIONAL) http://media.rsna.org/media/abstract/2011/11012293/11012293_kycn.jpg
    Full-text · Conference Paper · Nov 2011
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    ABSTRACT: Chronic blood transfusion (CBT) is currently the standard of care for primary and secondary stroke prevention in children with sickle cell anemia (SCA). However, the effect of CBT on cerebrovascular pathology is not well known. We reviewed children with SCA receiving CBT for abnormal transcranial Doppler (TCD) [n=12] or cerebrovascular accident (CVA) [n=22]. Baseline cerebral magnetic resonance imaging (MRI) and magnetic resonance angiogram (MRA) were compared with the most recent scans available for each patient and independently scored by a neuroradiologist. Thirty-four patients with a mean age of 6.5years at the time of baseline MRI/MRA were studied. Average elapsed time from baseline to most recent scans was 7.3years. Overall, patients experienced worsening vasculopathy, as measured by mean increases in their baseline MRI and MRA scores of +0.76 and +1.03. There was a significant difference in the mean change of MRI/MRA scores between patients who had CVA and abnormal TCD (MRI; +1.23 vs. -0.08, p=0.001 and MRA; +1.54 vs. +0.08, p=0.02). Patients with abnormal baseline MRA had worsening scores compared to those with normal baseline MRA (54% vs. 9.5%, p=0.01). Also, patients who had CVA were more likely to have an abnormal baseline MRA and worsening scores compared to abnormal TCD patients. We show that children with CVA experience progression of cerebral vasculopathy despite CBT. In contrast, CBT for abnormal TCD confers protection against the development and/or progression of cerebral vasculopathy. This effect appears to be real given our large cohort of patients with longer follow up as compared to previous studies.
    Full-text · Article · Jul 2011 · Blood Cells Molecules and Diseases
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    ABSTRACT: PURPOSE The study goal is to assess the clinical value of standard uptake value (SUV) measurements using [18F] Fluorodeoxyglucose Positron-Emission Tomographic CT (PET-CT) in the assessment of recurrent or residual loco-regional disease in previously treated patients with oral cavity and oropharyngeal squamous cell carcinoma, with the hypothesis that maximal SUV ratios would be more reliable predictors of residual or recurrent disease than maximal primary tumor site SUV. METHOD AND MATERIALS We retrospectively reviewed records of 39 patients referred for PET/CT imaging to evaluate for residual or recurrent cancer of the oral cavity and oropharynx over an eighteen-month period. Maximal SUV were recorded for the primary tumor area and were also normalized to the maximal SUV of the pons. In twenty cases pathology correlations and in nineteen cases clinical follow-up of at least 12 months were available. Imaging data collection was conducted by two observers and discrepancies were resolved by consensus. Mann-Whitney test was used for statistical analysis and results were considered significant when p < 0.05. Receiver operating characteristic analysis provided potential cutoff values for identification of tumor recurrence. RESULTS Maximal primary tumor site SUV and primary tumor site / pons SUV ratios were significantly different between pathology proven recurrent tumors and cases without evidence of disease at pathology or clinical follow-up (respectively Z = 2.633, p< 0.05; Z = 3.883, p< 0.05). There was no significant difference in maximal pons SUV between groups (Z = 1.87, p = 0.061). A threshold value of 0.85 for maximal primary tumor site / pons SUV ratio provided the best combination of sensitivity, specificity and accuracy for the detection of residual/recurrent disease at the primary site (respectively 80 %, 91% and 86%). A threshold of 4.5 for maximal tumor site SUV provided the best combination of sensitivity, specificity and accuracy (respectively 82.5%, 59%, and 61%). CONCLUSION The use of quantitative SUV data and in particular maximal primary tumor site / pons SUV ratios can be a useful adjunct to the interpretation of [18F] PET-CT studies in the detection of residual / recurrent head and neck carcinoma of the oral cavity and oropharynx. CLINICAL RELEVANCE/APPLICATION The use of maximal primary tumor site / pons SUV improves accuracy of 18FDG PET in the diagnosis of residual or recurrent oropharyngeal and oral cavity cancer.
    No preview · Conference Paper · Dec 2009
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    ABSTRACT: We report the case of a young patient with meningovascular syphilis who suffered fatal vertebrobasilar occlusion despite thrombolytic treatment and endovascular interventions. A 35-year-old man without any known medical history presented with an acute ischemic stroke and was initially treated with intravenous tissue plasminogen activator. He was then transferred to the stroke center, where he underwent endovascular recanalization of his occluded vertebrobasilar system. Despite initial successful recanalization, he suffered recurrent vertebrobasilar occlusion, and a second endovascular treatment attempt was unsuccessful. He subsequently developed a pontine hemorrhage and acute hydrocephalus and died secondary to transtentorial herniation. Laboratory findings were suggestive of prior spirochetal infection, and autopsy revealed necrotizing vasculitis and extensive adventitial inflammation involving the basilar and vertebral arteries, supporting the diagnosis of meningovascular syphilis.
    No preview · Article · Sep 2009 · The American Journal of the Medical Sciences
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    ABSTRACT: A plunging ranula is a rare phenomenon that represents mucous extravasation extending through or behind the mylohyoid. The mucous dissects the tissue planes inferiorly and usually manifests as a swelling in the submental or submandibular regions. Some plunging ranulas are believed to result from disruption of excretory ducts that originate from the sublingual gland. The currently accepted definitive treatment of a plunging ranula is resection of the ipsilateral sublingual gland and evacuation of the cyst with removal of the pseudocapsule. There have been no reported cases of "ascending" ranulas into the parapharyngeal or pterygomaxillary space. The following represents the first known case that involved an extensive ascending and plunging ranula in a pediatric patient, which recurred despite complete excision of the ranula and sublingual gland. IRB approval was not required per institutional policy on retrospective case reports.
    No preview · Article · Jul 2009 · Otolaryngology Head and Neck Surgery
  • M. Gisele Matheus · Pierre Giglio · Zoran Rumboldt
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    ABSTRACT: PURPOSE/AIM Purpose: In the past 5 years important and novel findings on DWI, FLAIR and perfusion-weighted imaging that differentiate post treatment related changes and tumor progression have been reported. The purpose of this presentation is to show these findings with a didactic, case based, pictorial approach. CONTENT ORGANIZATION Progression and post treatment related changes of Gliomas Imaging interpretation of the primary tumor emphasising -FLAIR -DWI -SWI -Perfusion -Post contrast T1-weighted images Interpretation of post surgical findings -Significance of the surgical cavity signal intensity -Surgical cavity margins -Post contrast enhancement Interpretation of follow up/post treated gliomas, “key” imaging findings of -Disease progression -Post treatment related changes -Recurrence SUMMARY The major teaching points of this exhibit are: 1- Rational evaluation of post treated gliomas combining findings from multiple MRI sequences. 2- Knowledge of the most common MRI findings related to glioma progression and post treatment related changes to improve patient care.
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