ISRN Neurology最新文献

Coloured filters have been found to reduce visual distortion of text in children with autism spectrum disorders (ASD). We investigated the effect of the overlays on the "mind in the eye" task in children with ASD and controls matched for age, gender, and nonverbal IQ. Children were shown photographs of the periocular region of various faces and were asked to judge which emotion was being expressed in the eyes. In children with ASD, the perception of the emotion was significantly improved when the photograph was covered by a coloured overlay. The improvement was significantly greater than in the controls, who showed no significant effect of the overlay. A perceptual impairment may contribute to the social difficulties shown in ASD.

Purpose. Primary hemorrhage in the ventricular system without a recognizable parenchymal component is very rare. This single-center retrospective study aimed to further characterize the clinical characteristics and early outcome of this stroke subtype. Methods. All patients with primary intraventricular hemorrhage included in a prospective hospital-based stroke registry over a 19-year period were assessed. A standardized protocol with 161 items, including demographics, risk factors, clinical data, neuroimaging findings, and outcome, was used for data collection. A comparison was made between the groups of primary intraventricular hemorrhage and subcortical intracerebral hemorrhage. Predictors of primary intraventricular hemorrhage were identified by logistic regression analysis. Results. There were 12 patients with primary intraventricular hemorrhage (0.31% of all cases of stroke included in the database) and 133 in the cohort of subcortical hemorrhage. Very old age (≥85 years) (odds ratio (OR) 9.89), atrial fibrillation (OR 8.92), headache (OR 6.89), and altered consciousness (OR 4.36) were independent predictors of intraventricular hemorrhage. The overall in-hospital mortality rate was 41.7% (5/12) but increased to 60% (3/5) in patients aged 85 years or older. Conclusion. Although primary intraventricular hemorrhage is uncommon, it is a severe clinical condition with a high early mortality. The prognosis is particularly poor in very old patients.

Background. Studies on the clinical course of multiple sclerosis have indicated that certain initial clinical factors are predictive of disease progression. Regions with a low prevalence for disease, which have environmental and genetic factors that differ from areas of high prevalence, lack studies on the progressive course and disabling characteristics of the disease. Objective. To analyse the long-term evolution to the progressive phase of the relapsing-remitting multiple sclerosis and its prognosis factors in mixed population. Methods. We performed a survival study and logistic regression to examine the influence of demographic and initial clinical factors on disease progression. Among 553 relapsing-remitting patients assisted at a Brazilian reference centre for multiple sclerosis, we reviewed the medical records of 150 patients who had a disease for ten or more years. Results. African ancestry was a factor that conferred more risk for secondary progression followed by age at the onset of the disease and the number of relapses in the year after diagnosis. A greater understanding of the influence of ancestry on prognosis serves to stimulate genetics and pharmacogenomics research and may clarify the poorly understood neurodegenerative progression of MS.

This pilot study evaluated the impact of Bikram Yoga on subjective and objective sleep parameters. We compared subjective (diary) and objective (headband sleep monitor) sleep measures on yoga versus nonyoga days during a 14-day period. Subjects (n = 13) were not constrained regarding yoga-practice days, other exercise, caffeine, alcohol, or naps. These activities did not segregate by choice of yoga days. Standard sleep metrics were unaffected by yoga, including sleep latency, total sleep time, and percentage of time spent in rapid eye movement (REM), light non-REM, deep non-REM, or wake after sleep onset (WASO). Consistent with prior work, transition probability analysis was a more sensitive index of sleep architecture changes than standard metrics. Specifically, Bikram Yoga was associated with significantly faster return to sleep after nocturnal awakenings. We conclude that objective home sleep monitoring is feasible in a low-constraint, real-world study design. Further studies on patients with insomnia will determine whether the results generalize or not.

Telemedicine is an increasingly recognized option for cost-effective management of chronic conditions. We surveyed Sleep Clinic patients about their experiences and preferences regarding different forms of telemedicine. Adult Sleep Clinic patients seen between 2009 and 2011 received a brief survey either by postal mail (n = 156) or, for those with an available email address, electronically (n = 282). The overall response rate was 28.1% (n = 123 responses), with email response rates being higher than postal mail responses. The most commonly reported barriers to in-person physician visits were parking cost (44%), time away from work/school (34%), and cost of gas (26%). Whereas 89% of respondents indicated using telephone and 55% of respondents indicated using email to communicate with providers, none reported experience with video telemedicine. Despite this lack of experience, over 60% reported feeling comfortable or willing to try it. Of those who were uncomfortable about video telemedicine, the two main reasons were that in-person visits feel more natural (48%) and that the doctor might need to perform an examination (24%). More than half of respondents reported willingness to pay a copay for a video visit. Video telemedicine represents a feasible option for chronic sleep disorders management.

Background. Spasticity is prevalent and disabling in persons with multiple sclerosis (MS), and the development of the Multiple Sclerosis Spasticity Scale-88 (MSSS-88) provides an opportunity for examining the perceived impact of spasticity and its association with gait in this population. Purpose. This study examined the association between the perceived impact of spasticity and spatio-temporal parameters of gait in persons with MS. Methods. The sample included 44 adults with MS who completed the MSSS-88 and 4 walking trials on a 26-foot GAITRite(TM) electronic walkway for measurement of spatio-temporal components of gait including velocity, cadence, base of support, step time, single support, double support, and swing phase. Results. The overall MSSS-88 score was significantly associated with velocity (r = -0.371), cadence (r = -0.306), base of support (r = 0.357), step time (r = 0.305), single leg support (r = -0.388), double leg support (r = 0.379), and swing phase (r = -0.386). Conclusions. The perceived impact of spasticity coincides with alterations of the spatio-temporal parameters of gait in MS. This indicates that subsequent interventions might target a decrease in spasticity or its perceived impact as an approach for improving mobility in MS.

We have examined brainstem lesions in patients with refractory epilepsy disorders, including West syndrome (WS), Lennox-Gastaut syndrome (LGS), and dentatorubral-pallidoluysian atrophy (DRPLA). Acetylcholinergic neurons (AchNs) in the pedunculopontine tegmental nucleus (PPN) are involved in mental development, and disruption of neuronal nicotinic acetylcholine receptors can lead to epilepsy. In order to investigate the involvement of lesions of AchNs in refractory epilepsy, we performed immunohistochemical analyses of AchNs in the PPN in autopsy cases who had a past history of WS and/or LGS and in DRPLA cases who showed progressive myoclonic epilepsy. In addition, we performed a preliminary quantification of the levels of acetylcholine, neuropeptides, and monoamine metabolites in the cerebrospinal fluid (CSF) of patients with WS and benign convulsions associated with mild gastroenteritis (CwG). In the PPN analysis, the total number of neurons and the number of AchNs were reduced in WS/LGS and WS cases, while DRPLA cases showed a decrease in the number and percentage of AchNs. In the CSF analysis, WS patients demonstrated a reduction in the levels of inhibitory neuropeptides, while CwG patients showed increased levels of acetylcholine and decreased levels of serotonin metabolites. These data suggest the possible involvement of lesions of AchNs in WS and DRPLA.

While allelic losses and mutations of tumor suppressor genes implicated in the etiology of astrocytoma have been widely assessed, the role of epigenetics is still a matter of study. We analyzed the frequency of promoter hypermethylation by methylation-specific PCR (MSP) in five tumor suppressor genes (PTEN, MGMT, RASSF1A, p14(ARF), and p16(INK4A)), in astrocytoma samples and cell lines. RASSF1A was the most frequently hypermethylated gene in all grades of astrocytoma samples, in cell lines, and in adult secondary GBM. It was followed by MGMT. PTEN showed a slight methylation signal in only one GBM and one pilocytic astrocytoma, and in two cell lines; while p14(ARF) and p16(INK4A) did not show any evidence of methylation in primary tumors or cell lines. In pediatric GBM, RASSF1A was again the most frequently altered gene, followed by MGMT; PTEN, p14 and p16 showed no alterations. Lack or reduced expression of RASSF1A in cell lines was correlated with the presence of methylation. RASSF1A promoter hypermethylation might be used as a diagnostic marker for secondary GBM and pediatric GBM. Promoter hypermethylation might not be an important inactivation mechanism in other genes like PTEN, p14(ARF) and p16(INK4A), in which other alterations (mutations, homozygous deletions) are prevalent.

Parkinson's disease (PD) is the second most common form of neurodegeneration in the elderly population. Clinically, it is characterized by tremor, rigidity, slowness of movement, and postural imbalance. A significant association between low serum vitamin D and PD has been demonstrated, suggesting that elevated vitamin D levels might provide protection against PD. Genetic studies have helped identify a number of proteins linking vitamin D to PD pathology, including the major histocompatibility complex (MHC) class II, the vitamin D receptor (VDR), cytochrome P450 2D6 (CYP2D6), chromosome 22, the renin-angiotensin system (RAS), heme oxygenase-1 (HO-1), poly(ADP-ribose) polymerase-1 gene (PARP-1), neurotrophic factor (NTF), and Sp1 transcription factor. Vitamin D has also been implicated in PD through its effects on L-type voltage-sensitive calcium channels (L-VSCC), nerve growth factor (NGF), matrix metalloproteinases (MMPs), prostaglandins (PGs) and cyclooxygenase-2 (COX-2), reactive oxygen species (ROS), and nitric oxide synthase (NOS). A growing body of evidence suggests that vitamin D supplementation may be beneficial for PD patients. Among the different forms of vitamin D, calcitriol (1,25-dihydroxyvitamin D(3)) is best indicated for PD, because it is a highly active vitamin D(3) metabolite with an appropriate receptor in the central nervous system (CNS).

The feasibility and accuracy of using checklists after every working shift in a bedside computer-based information system for documentation of secondary insults in the neurointensive care unit were evaluated. The ultimate goal was to get maximal attention to avoid secondary insults. Feasibility was investigated by assessing if the checklists were filled in as prescribed. Accuracy was evaluated by comparing the checklists with recorded minute-by-minute monitoring data for intracranial pressure-ICP, cerebral perfusion pressure CPP, systolic blood pressure SBP, and temperature. The total number of checklist assessments was 2,184. In 85% of the shifts, the checklists were filled in. There was significantly longer duration of monitoring time at insult level when Yes was filled in regarding ICP (mean 134 versus 30 min), CPP (mean 125 versus 26 min) and temperature (mean 315 versus 120 min). When a secondary insult was defined as >5% of monitoring time spent at insult level, the sensitivity/specificity for the checklist assessments was 31%/100% for ICP, 38%/99% for CPP, and 66%/88% for temperature. Checklists were feasible and appeared relatively accurate. Checklists may elevate the alertness for avoiding secondary insults and help in the evaluation of the patients. This concept may be the next step towards tomorrow critical care.