关键词： Acoustic Neuroma   Hearing Disorders   Internal Auditory Canal   Cranial Nerves   Cerebellopontine Angle   Patients   Common Neoplasm   Hemorrhage   Tumours  

摘要： Vestibular schwannomas (VS) are the most common tumors involving the cerebellopontine angle (CPA) and the internal auditory canal (IAC). These tumors are usually slow-growing and commonly present with cranial nerve dysfunction such as hearing loss. Repeated intratumoral hemorrhage (ITH) is extremely rare with only four cases previously reported. We report the case of a 30 year old female with a right sided CP angle tumor who presented with vertigo and ataxia due to ITH. Her symptoms initially improved;however, three weeks later, she had acute onset of facial palsy and imaging confirmed rebleeding. Surgical pathology reported typical features of schwannoma. A literature review performed using the PubMed and EMBASE databases yielded four previous reports. A summary of these cases is presented and the features of ITH are discussed. Patients affected by repeated ITH present with sudden headache and ataxia. Rapid worsening of cranial nerve dysfunction such as hearing loss or facial nerve palsy is suggestive of ITH. (C) 2018 Elsevier Ltd. All rights reserved.

关键词： TCF20   22q13   Neurodevelopmental disorders   Smith-Magenis syndrome   Haploinsufficiency   Loss-of-function variants   Deletions  

摘要： BackgroundNeurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) associated. To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity).MethodsGenome-wide analyses by exome sequencing (ES) and chromosomal microarray analysis (CMA) identified individuals with heterozygous, likely damaging, loss-of-function alleles in TCF20. We implemented further molecular and clinical analyses to determine the inheritance of the pathogenic variant alleles and studied the spectrum of *** report 25 unique inactivating single nucleotide variants/indels (1 missense, 1 canonical splice-site variant, 18 frameshift, and 5 nonsense) and 4 deletions of TCF20. The pathogenic variants were detected in 32 patients and 4 affected parents from 31 unrelated families. Among cases with available parental samples, the variants were de novo in 20 instances and inherited from 4 symptomatic parents in 5, including in one set of monozygotic twins. Two pathogenic loss-of-function variants were recurrent in unrelated families. Patients presented with a phenotype characterized by developmental delay, intellectual disability, hypotonia, variable dysmorphic features, movement disorders, and sleep ***20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. Together with previously described cases, the clinical entity of TCF20-associated neurodev

关键词： Autoimmune diseases   Biology and life sciences   Cerebrovascular diseases   Clinical immunology   Clinical medicine   Clinical trials   Critical care and emergency medicine   Diagnostic medicine   Diarrhea   Drug research and development   Gastroenterology and hepatology   Guillain-Barre syndrome   Immunology   Inflammatory diseases   Medicine and health sciences   Neurology   Neurotrauma   Pathology and laboratory medicine   Pharmacology   Prognosis   Randomized controlled trials   Research and analysis methods   Research Article   Signs and symptoms   Stroke   Trauma medicine   Traumatic brain injury   Traumatic injury   Vascular medicine  

摘要： Background Randomized controlled trials (RCTs) pose specific challenges in rare and heterogeneous neurological diseases due to the small numbers of patients and heterogeneity in disease course. Two analytical approaches have been proposed to optimally handle these issues in RCTs: covariate adjustment and ordinal analysis. We investigated the potential gain in efficiency of these approaches in rare and heterogeneous neurological diseases, using Guillain-Barre syndrome (GBS) as an example. Methods We analyzed two published GBS trials with primary outcome 'at least one grade improvement' on the GBS disability scale. We estimated the treatment effect using logistic regression models with and without adjustment for prognostic factors. The difference between the unadjusted and adjusted estimates was disentangled in imbalance (random differences in baseline covariates between treatment arms) and stratification (change of the estimate due to covariate adjustment). Second, we applied proportional odds regression, which exploits the ordinal nature of the GBS disability score. The standard error of the estimated treatment effect indicated the statistical efficiency. Results Both trials were slightly imbalanced with respect to baseline characteristics, which was corrected in the adjusted analysis. Covariate adjustment increased the estimated treatment effect in the two trials by 8% and 18% respectively. Proportional odds analysis resulted in lower standard errors indicating more statistical power. Conclusion Covariate adjustment and proportional odds analysis most efficiently use the available data and ensure balance between the treatment arms to obtain reliable and valid treatment effect estimates. These approaches merit application in future trials in rare and heterogeneous neurological diseases like GBS.

关键词： SLEEP apnea syndromes   NEUROSCIENCES   LETTERS to the editor   HYDROCEPHALUS  

摘要： Magnetic resonance elastography (MRE) is an imaging technique for noninvasively and quantitatively assessing tissue stiffness, akin to palpation. MRE is further able assess the mechanical properties of tissues that cannot be reached by hand including the brain. The technique is a three-step process beginning with the introduction of shear waves into the tissue of interest by applying an external vibration. Next, the resulting motion is imaged using a phase-contrast MR pulse sequence with motion encoding gradients that are synchronized to the vibration. Finally, the measured displacement images are mathematically inverted to compute a map of the estimated stiffness. In the brain, the technique has demonstrated strong test-retest repeatability with typical errors of 1% for measuring global stiffness, 2% for measuring stiffness in the lobes of the brain, and 3-7% for measuring stiffness in subcortical gray matter. In healthy volunteers, multiple studies have confirmed that stiffness decreases with age, while more recent studies have demonstrated a strong relationship between viscoelasticity and behavioral performance. Furthermore, several studies have demonstrated the sensitivity of brain stiffness to neurodegeneration, as stiffness has been shown to decrease in multiple sclerosis and in several forms of dementia. Moreover, the spatial pattern of stiffness changes varies among these different classes of dementia. Finally, MRE is a promising tool for the preoperative assessment of intracranial tumors, as it can measure both tumor consistency and adherence to surrounding tissues. These factors are important predictors of surgical difficulty. In brief, MRE demonstrates potential value in a number of neurological diseases. However, significant opportunity remains to further refine the technique and better understand the underlying physiology.

关键词： Multiple sclerosis   Neutrophil-to-Lympocyte ratio   Monocyte-to-Lympocyte ratio   Brain atrophy   MRI   Patient-reported outcomes  

摘要： Background: Serum hematological indices such as the neutrophil-lymphocyte ratio (NLR) or monocyte-lymphocyte ratio (MLR) have been used as biomarkers of pathogenic inflammation and prognostication in multiple areas of medicine;recent evidence shows correlation with psychological parameters as well. Objectives/Aims: To characterize clinical, neuroimaging, and psycho-neuro-immunological associations with NLR and MLR in persons with multiple sclerosis (MS). Methods: We identified a large cohort of clinically well-defined patients from our longitudinal database that included MS-related outcomes, disease-modifying therapy, patient-reported outcome (PRO) measures, and quantified cerebral MRI at 1.5T. We queried hospital records for complete blood counts within 2months of each clinic visit and excluded those obtained during clinical relapses. Four hundred eighty-three patients, with a mean of 3 longitudinal observations each, were identified who met these criteria. Initial analyses assessed the association between NLR and MLR as the outcomes, and psychological and demographic predictors in univariable and multivariable models controlling for age, gender and treatment. The second set of analyses assessed the association between clinical and MRI outcomes including whole brain atrophy and T2-hyperintense lesion volume, with NLR and MLR as predictors in univariable and multivariable models. All analyses used a mixed effects linear or logistic regression model with repeated measures. Results: Unadjusted analyses demonstrated significant associations between higher (log-transformed) NLR (but not MLR) and PRO measures including increasing depression (p=0.01), fatigue (p<0.01), and decreased physical quality of life (p<0.01). Higher NLR and MLR strongly predicted increased MS-related disability as assessed by the Expanded Disability Status Scale, independent of all demographic, clinical, treatment-related, and psychosocial variables (p<0.001). Lastly, higher NLR and MLR significan

摘要： Hypoxic-ischemic encephalopathy (HIE) is a devastating neurological event that contributes to the prolonged neurodevelopmental consequences in infants. Therapeutic strategies focused on attenuating neuronal apoptosis in the penumbra appears to be promising. Given the increasingly recognized neuroprotective roles of adipokines in HIE, we investigated the potential anti-apoptotic roles of a novel member of adipokines, Chemerin, in an experimental model of HIE. In the present study, 10-day-old rat pups underwent right common carotid artery ligation followed by 2.5 h hypoxia. At 1 h post hypoxia, pups were intranasally administered with human recombinant chemerin (rh-chemerin). Here, we showed that rh-chemerin prevented the neuronal apoptosis and degeneration as evidenced by the decreased expression of the pro-apoptotic markers, cleaved caspase 3 and Bax, as well as the numbers of FluoroJade C and TUNEL-positive neurons. Furthermore, rh-Chemerin reversed neurological and morphological impairments induced by hypoxia-ischemia in neonatal rats at 24 h and 4 weeks after HIE. In addition, chemerin-mediated neuronal survival correlated with the elevation of chemerin receptor 23 (chemR23), phosphorylated calmodulin-dependent protein kinase kinase 2 (CAMKK2), as well as phosphorylated adenosine monophosphate-activated protein kinase (AMPK). Specific inhibition of chemR23, CAMKK2, and AMPK abolished the anti-apoptotic effects of rh-chemerin at 24 h after HIE, demonstrating that rh-chemerin ameliorated neuronal apoptosis partially via activating chemR23/CAMKK2/AMPK signaling pathway. Neuronal apoptosis is a well-established contributing factor of pathological changes and the neurological impairment after HIE. These results revealed mechanisms of neuroprotection by rh-chemerin, and indicated that activation of chemR23 might be harnessed to protect from neuronal apoptosis in HIE.

关键词： reactive astrocytes   calcium signals   epilepsy   Alexander disease  

摘要： Astrocytes are abundant cells in the brain that regulate multiple aspects of neural tissue homeostasis by providing structural and metabolic support to neurons, maintaining synaptic environments and regulating blood flow. Recent evidence indicates that astrocytes also actively participate in brain functions and play a key role in brain disease by responding to neuronal activities and brain insults. Astrocytes become reactive in response to injury and inflammation, which is typically described as hypertrophy with increased expression of glial fibrillary acidic protein (GFAP). Reactive astrocytes are frequently found in many neurological disorders and are a hallmark of brain disease. Furthermore, reactive astrocytes may drive the initiation and progression of disease processes. Recent improvements in the methods to visualize the activity of reactive astrocytes in situ and in vivo have helped elucidate their functions. Ca2+ signals in reactive astrocytes are closely related to multiple aspects of disease and can be a good indicator of disease severity/state. In this review, we summarize recent findings concerning reactive astrocyte Ca2+ signals. We discuss the molecular mechanisms underlying aberrant Ca2+ signals in reactive astrocytes and the functional significance of aberrant Ca2+ signals in neurological disorders.

关键词： 《中文核心期刊要目总览》   文献计量学   神经病学   医学杂志   研究人员   专家评审   精神病学  

摘要： 《中华神经医学杂志》主编:我们谨此郑重通知:依据文献计量学的原理和方法,经研究人员对相关文献的检索、统计和分析,以及学科专家评审,贵刊《中华神经医学杂志》入编《中文核心期刊要目总览》2017年版(即第8版)之“神经病学与精神病学”类的核心期刊。