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Caraballo Roberto R Neurology Department, Pediatric Hospital "Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina. Electronic address: - - 2014
We present six patients with epilepsy of infancy with migrating focal seizures (EIMFS) and provide a comprehensive evaluation of potassium bromide therapy. Between February 1, 2007 and July 31, 2012, six patients who met the diagnostic criteria of EIMFS were treated with potassium bromide. Potassium bromide was added to other ...
Higashimoto Ken - - 2012
Gain of methylation (GOM) at the H19-differentially methylated region (H19-DMR) is one of several causative alterations in Beckwith-Wiedemann syndrome (BWS), an imprinting-related disorder. In most patients with epigenetic changes at H19-DMR, the timing of and mechanism mediating GOM is unknown. To clarify this, we analyzed methylation at the imprinting control ...
Gezer Ugur - - 2012
Circulating DNA is present in plasma/serum, mainly complexed with histones as nucleosomes. The detection of circulating nucleosomes (cNUCs) in the peripheral blood may be a diagnostic modality for cancer-associated changes of modified histone tails in blood circulation. In the present study, we investigated the correlation between the trimethylation of H3 ...
Azuara Daniel - - 2012
BACKGROUND: Patients with ulcerative colitis and Crohn's colonic disease are at increased risk of developing colorectal cancer (CRC). The aim of the study was to analyze the methylation status of selected genes as a risk marker for CRC in inflammatory bowel disease (IBD) patients. METHODS: We evaluated the methylation status ...
Nazif Tamim M - - 2012
Anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) is a recently recognized form of autoimmune encephalitis that typically affects young women, often as a paraneoplastic syndrome related to ovarian teratoma. Clinical features include psychiatric and neurological disturbances, central hypoventilation, autonomic instability, and cardiac dysrhythmias. The prevalence, nature, and outcomes of cardiac dysrhythmias in patients ...
Hatzimichael Eleftheria - - 2012
Abstract BIK (bcl2-interacting killer) is the founding member of the BH3-only BCL-2 family of pro-apoptotic proteins, which is found suppressed in various cancers. In multiple myeloma (MM), BIK has been shown to be epigenetically silenced in vitro but there is lack of clinical data. We investigated CpG methylation status of ...
Zhang Yizhuo - - 2012
To study the role of SHP-1 methylation in the pathogenesis of myelodysplastic syndromes (MDS), we detect the methylation status of SHP-1 promoter and STAT3 phosphorylation of MDS patients by the methylation-specific PCR and Western blotting, respectively. It is found that the methylation rate of SHP-1 promoter of high-risk MDS patients ...
Sheng Wei - - 2012
Methylation levels of long interspersed nucleotide elements (LINE-1) are representative of genome-wide methylation status and play an important role in maintaining genomic stability and gene expression. To derive insight into the association between genome-wide methylation status and tetralogy of fallot (TOF), we compared the methylation status of LINE-1 element between ...
Izzi Benedetta - - 2012
Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic defects while PHP-Ia cases present with hormone resistance and characteristic features jointly termed ...
Dammann Gerhard - - 2011
Borderline personality disorder (BPD) is a complex psychiatric disease of increasing importance. Epigenetic alterations are hallmarks for altered gene expression and could be involved in the etiology of BPD. In our study we analyzed DNA methylation patterns of 14 neuropsychiatric genes (COMT, DAT1, GABRA1, GNB3, GRIN2B, HTR1B, HTR2A, 5-HTT, MAOA, ...
Basterra Virginia - - 2011
The Val158Met catechol-O-methyl transferase functional polymorphism has been repeatedly associated to differences in performing the Wisconsin Card Sorting Test in both, patients with schizophrenia and healthy individuals. However, this association has not been consistently replicated for the Trail Making Test part-B (TMT-B). In a sample of 89 patients suffering from ...
Canard Guillaume - - 2011
PURPOSE: The purpose of this study was to assess the efficacy of screening for the detection of Lynch syndrome (LS) in an unselected population undergoing surgery for a colorectal cancer. METHODS: A total of 1,040 patients were prospectively included between 2005 and 2009. LS screening modalities included the Bethesda criteria, ...
Gardiner R Brett - - 2011
BACKGROUND: Characterization of recurrent genetic lesions in childhood acute lymphoblastic leukemia (ALL) has enabled therapeutic stratification with improved outcomes. The tumor suppressor genes, CDKN2A and CDKN2B, encoding p16(INK4a) , p14(ARF) , and p15(INK4b) have been localized to 9p21. Abnormalities of 9p21 have been reported in 10-30% of childhood ALL using ...
Song Jun-Gol - - 2011
Background: Although regional cerebral oxygen saturation (rSO(2)) measurements can detect disturbances in cerebral oxygenation, their usefulness is limited in patients with hyperbilirubinemia. We examined the relationship between rSO(2) and other laboratory variables that may affect interpretation of low rSO(2) in awake patients with end-stage liver disease before liver transplantation surgery. ...
Mahoney Colin J CJ Dementia Research Centre, Institute of Neurology, University College London, London, - - 2011
Tinnitus and hyperacusis are common symptoms of excessive auditory perception in the general population; however, their anatomical substrates and disease associations continue to be defined. with semantic dementia (SemD) frequently report tinnitus and hyperacusis but the significance and basis for these symptoms have not been elucidated. 43 patients with a ...
Ozkurt Sultan - - 2011
Abstract Thromboembolic diseases are accepted as the most important complications in adult nephrotic syndrome, particularly membranous nephropathy. As renal vein thrombosis is usually seen in patients with membranous nephropathy, cerebral venous thrombosis is a very rare condition, which has not been reported previously in adult patients with membranous nephropathy. Although ...
Miteff F - - 2011
BACKGROUND AND PURPOSE: Patients with stroke unsuitable for IV thrombolysis may be considered for endovascular revascularization, particularly when baseline imaging suggests proximal cerebral vessel occlusion associated with minimal established infarction. This retrospective review describes the use of a self-expanding retrievable intracranial stent (Solitaire AB) for thrombectomy in acute ischemic stroke. ...
Imaizumi Toshio - - 2011
BACKGROUND AND PURPOSE: Microbleeds (MBs) are low-intensity spots on gradient echo T2*-weighted MRI frequently associated with cerebral microangiopathies resulting in stroke. MBs can also be caused by cerebral axonal injuries. We compared the location of MBs associated with cerebral microangiopathies with those associated with trauma. METHODS: T2*-weighted MRI identified traumatic ...
Bagepally Bhavani Shankara - - 2011
BACKGROUND AND PURPOSE: Though routine neuroimaging is usually normal in essential tremor (ET) there is clinical evidence of widespread involvement of central nervous system. This study aimed at determining morphological changes in brain of patients with ET using voxel-based morphometry (VBM) analysis and also compare the subtypes of ET. METHODS: ...
Lee Kee Ook - - 2011
BACKGROUND: Antiphospholipid antibodies (aPLs) are associated with vascular occlusive events. Lupus anticoagulant (LA) and anticardiolipin antibody (aCL) are two aPLs commonly used for screening test. However, other aPLs are reported to play a role in the thrombotic events in other disorders, especially autoimmune disease. We investigated the clinical significance of ...
van Lier Francis A T M - - 2011
Background In aneurysmal subarachnoid haemorrhage (SAH), delayed cerebral ischaemia (DCI) is a serious complication that occurs in approximately 30% of patients. Lupus anticoagulant (LAC) is a risk factor for thrombotic events and has been associated with cerebral infarction after SAH. Objective To determine the frequency of LAC in patients with ...
Kwon O-K - - 2011
BACKGROUND AND PURPOSE: In order to prevent unexpected events such as aspiration pneumonia, cerebral angiography has been performed under fasting in most cases. We investigated prospectively the necessity of fasting before elective cerebral angiography. MATERIALS AND METHODS: The study is an open-labeled clinical trial without random allocation. In total, 2554 ...
Talelli Penelope - - 2011
OBJECTIVE: The syndrome of dystonia and cerebellar ataxia (DYTCA) is a recently described condition where cervical dystonia and mild cerebellar ataxia are the major clinical features. Here we attempted to explore the pathophysiology of this condition by comparing measurements of cortical excitability between patients with DYTCA, typical primary dystonia and ...
Förster Alex - - 2011
Background: Recovery from stroke is presumed to be a function of a widespread cerebral network. Chronic white matter lesions (WML) have been proposed to be a predictor of poor outcome after acute stroke. We tested the hypothesis that the extent of WML has an effect on functional recovery in acute ...
Giraldo Elias A - - 2011
BACKGROUND: Patients with stroke symptoms but negative diffusion-weighted imaging (DWI) might have transient ischemic attacks (TIA) or stroke mimics. Brain DWI is important for the diagnosis of cerebral infarction but it is not available before thrombolysis for most patients to avoid treatment delay. This study aimed to evaluate the safety ...
Fagniez Ombeline - - 2011
Hematological disorders (HD) have been estimated to implicate approximately 1% of patients with arterial ischemic stroke. However, previously published studies are mostly retrospective or based on case reports or small series in selected young patients. We herein prospectively included consecutive patients with MRI-confirmed cerebral arterial infarctions among individuals admitted in ...
Virta Jere R - - 2011
Background: Neuropsychological studies have extensively described the presence of cognitive dysfunction in MS patients. One possible pharmacological treatment of the impairment could be based on acetylcholinesterase inhibitors (AChEIs), which have shown efficacy in alleviating cognitive impairment in many other disorders. The findings on the efficacy of AChEI medication in MS ...
Okuda Shiho - - 2011
BACKGROUND: Compared to the patients with early-onset seizures (ES), those with late-onset seizures (LS) have a high risk of epilepsy that is a feared complication after stroke. However, few studies have described detailed clinical features of LS in Japanese patients. METHODS: To elucidate the clinical features of LS, a series ...
Lee Athene K W - - 2011
According to bottom-up/top-down models, impulsivity facets are represented across the cerebral cortex and subcortex. Hypothesized gray matter correlates of motor, attentional and non-planning impulsivity were examined in groups of 35 psychiatric patients characterized by self-control problems and 18 healthy volunteers. Among patients, a positive correlation was found between motor impulsivity ...
Gabarrós Andreu - - 2011
: Microsurgical resection of arteriovenous malformations (AVMs) located in the language and motor cortex is associated with the risk of neurological deterioration, yet electrocortical stimulation mapping has not been widely used. : To demonstrate the usefulness of intraoperative mapping with language/motor AVMs. : During an 11-year period, mapping was used ...
Kim Young Dae - - 2011
BACKGROUND AND PURPOSE: The CHADS(2) score is used for risk stratification of ischemic stroke in patients with nonvalvular atrial fibrillation and high CHADS(2) scores are associated with increased risk of stroke. Most components of the CHADS(2) score are also risk factors for atherosclerosis. Therefore, high CHADS(2) scores can be associated ...
Kozora Elizabeth - - 2011
Brain abnormalities have been documented by neuropsychological assessment as well as a variety of neuroimaging techniques in patients with systemic lupus erythematosus (SLE). Conventional neuroimaging in patients with neuropsychiatric disease (NPSLE) typically discloses periventricular white matter (WM) hyperintensities, infarcts, hemorrhages, and cerebral atrophy. In SLE patients with none of these ...
Cocho D - - 2011
BACKGROUND: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is characterized by recurrent cerebral ischemic episodes of the lacunar subtype usually without traditional vascular risk factors. We investigated the frequency of CADASIL among selected patients with cerebral ischemia of the lacunar subtype. METHODS: we studied patients under 65 ...
Berg Ronan M G - - 2011
Abstract Background. The circulating cholinesterases acetyl- and butyrylcholinesterase may be suppressed and subsequently released from the brain in acute bacterial meningitis. Methods. We report serum activities of acetylcholinesterase and butyrylcholinesterase in paired arterial and jugular venous samples from seven patients with acute bacterial meningitis and eight healthy controls. Paraoxonase 1, ...
Nishida Seiji - - 2011
There has been increasing evidence indicating gray matter abnormalities in patients with obsessive-compulsive disorder (OCD). Several voxel-based morphometry (VBM) studies have reported volume changes in the insular cortex. Although there are distinct differences in the connectivity and functions in the anterior and posterior insular cortices, these two regions have never ...
Tazarourte K - - 2011
Background: Investigation of the feasibility and usefulness of pre-hospital transcranial Doppler (TCD) to guide early goal-directed therapy following severe traumatic brain injury (TBI). Methods: Prospective, observational study of 18 severe TBI patients during pre-hospital medical care. TCD was performed to estimate cerebral perfusion in the field and upon arrival at ...
Jang Sung Ho SH Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, 317-1, Daemyungdong, Namku, Taegu, 705-717, South Korea. - - 2011
We describe here 2 stroke patients who showed activation of the contra-lesional somatosensory cortex without activation of the ipsi-lesional somatosensory cortex during proprioceptive input on the affected hand. One patient with intracerebral haemorrhage (a 52-year-old man), 1 patient with middle cerebral artery infarct (a 54-year-old man), and 8 control subjects ...
Salavert José - - 2011
INTRODUCTION: Several functional neuroimaging studies have demonstrated abnormalities in fronto-limbic pathways when comparing borderline personality disorder (BPD) patients with controls. The present study aimed to evaluate regional cerebral metabolism in euthymic BPD patients with similar measured impulsivity levels by means of 18F-FDG PET during resting state and to compare them ...
Ko Sang-Bae - - 2011
BACKGROUND AND PURPOSE: Delayed cerebral ischemia (DCI) is an important complication after subarachnoid hemorrhage and appears to be associated with clot burden on CT. Quantification of hemorrhage on digitized images may be a more accurate method for predicting DCI than qualitative scales. METHODS: Quantitative analysis of clot burden on CT ...
Grabowski Maciej - - 2011
The data on cerebral embolism prevalence in the course of infective endocarditis (IE) are most probably underestimated. Part of the cerebral embolism episodes are clinically silent. The objective of this study was to assess the prevalence of clinically silent cerebral embolism in the course of IE and to correlate hematological, ...
Aguiar de Sousa D - - 2011
Behçet's disease (BD) is a chronic inflammatory multisystem disorder which can involve the central nervous system (CNS). Cerebral venous thrombosis (CVT) is one of its major neurological manifestations. We aimed to review the epidemiologic and clinical features of CVT in patients with BD, as well as the available data on ...
Dresler Thomas - - 2011
In this report, we present two anxiety disorder patients who spontaneously experienced a panic attack during an fMRI examination and subsequently aborted the measurement. We analyzed the functional data gathered up to that point in relation to the patients' subsequent verbal reports of the course of the panic attacks. Within ...
Giannitti C - - 2011
Central nervous system involvement has been reported in up to 60% of patients with systemic lupus erythematosus (SLE). Cerebral vasculitis in SLE is rare and its incidence in post-mortem studies has been documented from 7% to 15% of cases. Cerebral haemorrhage is described in 0.4-7% of cases and it is ...
Motoyama Yasushi - - 2011
The feasibility and reliability of combined use of transcranial and direct cortical motor evoked potential (MEP) monitoring during unruptured aneurysm surgery were evaluated. Forty-eight patients with unruptured cerebral aneurysms underwent craniotomy and neck clipping accompanied by muscle MEP monitoring. MEPs were elicited successfully by transcranial electrical stimulation in all patients. ...
Kinoshita Kaori - - 2011
Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. In this study, we established a method for evaluating the methylation status of a CpG ...
Krajewski K L - - 2011
Multimodal cerebral monitoring was utilized to examine the relationship between pathological changes in microdialysis parameters and the occurrence of spreading depolarizations (SD) in brain-injured patients. SD are a relatively newly discovered phenomenon in man found to be linked to secondary insults and infarct growth and they can be detected via ...
Chen Shih-Pin - - 2011
Reversible cerebral vasoconstriction syndrome (RCVS) could be complicated by cerebral ischemic events. Hypothetical mechanisms of RCVS involve endothelial dysfunction and sympathetic overactivity, both of which were reported to be related to brain-derived neurotrophic factor (BDNF). The study investigated the association between functional BDNF Val66Met polymorphism and RCVS. Patients with RCVS ...
Kwee Robert M - - 2011
To prospectively assess the relation between carotid plaque characteristics and the development of new cerebral white matter lesions (WMLs) at MRI. Fifty TIA/stroke patients with ipsilateral 30-69% carotid stenosis underwent MRI of the plaque at baseline. Total plaque volume and markers of vulnerability to thromboembolism (lipid-rich necrotic core [LRNC] volume, ...
Cloft Harry J - - 2011
A well-defined rate of adverse events following cerebral angiography in patients with symptomatic intracranial atherosclerosis would be useful to physicians making decisions regarding imaging and treatment of these patients. We report the adverse events associated with angiography in patients who underwent single-vessel cerebral angiography as part of the study protocol ...
Abu Sayeed Abdullah - - 2011
To establish if assessment of malarial retinopathy in adult malaria using ophthalmoscopy by non-ophthalmologists has clinical and prognostic significance, 210 Bangladeshi adults were assessed by both direct and indirect ophthalmoscopy; 20 of 20 healthy subjects and 20 of 20 patients with vivax malaria showed no retinal changes, whereas in patients ...
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