关键词： Heavy metals  

摘要： In this work, for the first time, the human heavy metal proteome was predicted. According to the results, aluminum, cadmium, mercury and lead metalloproteomes might constitute up to 8.9%, 18.4%, 15% and 4% of the entire human proteome, respectively. The abundance of the predicted heavy metal-binding proteins in various organ-specific proteomes was retrieved from the Human Protein Atlas database showing higher expression profiles for Cd- and Hg-binding proteins in all studied organs (especially in the prostate, heart and pancreas) compared with the other heavy metals. Possible perturbations in cellular trafficking and homeostasis of essential metals by heavy metal proteomes were highlighted. Furthermore, this study showed that molecular linkages between heavy metal proteomes and major neurological disorders or various types of cancer were more significant for Cd followed by Hg, Al and Pb. Interestingly, integrated gene network analysis revealed that Cd and Hg proteomes share so far unknown gene circuits with these two types of disorder.

关键词： Anti-MOG antibody encephalitis   Rett syndrome   MECP2   Mutation   MRI  

摘要： Background: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy. Transient presentation of many autistic features is also commonly seen in RTT. Anti-myelin oligodendrocyte glycoprotein (MOG)-antibody encephalitis is an acquired relapsing demyelinating syndrome characterized by a variety of neuroinflammatory symptoms. Here, we report a case of anti-MOG antibody encephalitis in a patient with genetically confirmed RTT, which mimicked many of the features of RTT. Case report: A three-year-old girl presented with subacute verbal and motor dysfunction, along with involuntary movements and marked irritability. Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent involuntary hand movements in combination with progressive verbal and motor deterioration. Sequencing analysis revealed a known pathogenic mutation in MEPC2, indicating a concurrent diagnosis of RTT. Conclusion: Both RTT and anti-MOG antibody encephalitis are rare conditions. Similarities in disease presentation suggest that anti-MOG antibody encephalitis may mimic many of the symptoms of RTT. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

关键词： Burst fracture   Incomplete neurological deficit   Lumbar   Schanz pedicle screw   Short-segment fixation  

摘要： PURPOSE: We have introduced a method of modified posterior short-segment pedicle screw fixation and evaluated its clinical effects in treating lumbar burst fractures with incomplete neurological deficits. METHODS: The data from 22 patients with lumbar burst fracture and incomplete neurological deficits who had undergone modified posterior short-segment instrumentation with Schanz screw fixation from January 2012 to February 2018 in our clinic were evaluated in the present retrospective study. All Schanz screws were implanted in an oblique downward direction into the vertebrae above and below the injured vertebra (insertion depth, 90%-100%). The implants were removed similar to 1 year after surgery. Neurological function, back pain, anterior and posterior body height ratio, kyphosis angle, percentage of canal compromise, fracture severity, and treatment-related complications were evaluated. RESULTS: Technical success was achieved in all 22 patients. No infection, instrument loosening or failure, or breakage was observed. Statistically significant improvements with regard to the anterior body height (P < 0.05) and posterior body height (P < 0.05) ratios, kyphosis angle, and percentage of canal compromise (P < 0.05) were observed at 1 week postoperatively or the final follow-up visit. No correction loss had occurred at the final follow-up examination. Postoperatively, all patients with neurological deficits had functional improvement equivalent to grade on the American Spinal Injury Association impairment scale and fracture union. Back pain was greatly improved postoperatively. CONCLUSIONS: Short-segment Schanz screw fixation implanted in an oblique downward direction seems to be a promising method for lumbar burst fractures with incomplete neurological deficits because it provided good clinical and radiographic outcomes.

摘要： To determine the relationship between alterations in the activity of the enzymes participating in antioxidative defense system and neurological soft signs (NSS) in schizophrenic patients with the first episode psychosis (S-FE, n = 19), patients in relapse (S-R, n = 46), and healthy controls (HC, n = 20). NSS intensity and enzymatic plasma activities of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPX) were compared between S-FE, S-R and HC subjects and a follow-up correlation analyses between the enzyme activities and NSS intensity was performed. NSS intensity was increased four times in schizophrenic patients compared with healthy controls. Activities of SOD and CAT were 40% decreased in S-FE and these reductions were ameliorated by antipsychotic treatment. GPX activity was 20% decreased in both patient groups compared with controls. A negative correlation between NSS intensity and GPX activity was specifically found in the S-FE patients. The data in this report argue that a reduction of GPX activity might be one of the causes for the emergence of NSS at the onset of schizophrenia, and provide the evidence that antipsychotic therapy can attenuate activity reductions of SOD and CAT, but not the activity reduction of GPX and the intensity of NSS.

关键词： LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO   neurological complication   Review, Systematic   aluminium   Complication  

关键词： nerve conduction study   Sensation   Arsenic   medical examination   Neurologic Examination  

摘要： Chronic arsenic intoxication is known to cause multisystem impairment and is still a major threat to public health in many countries. In Toroku, a small village in Japan, arsenic mines operated from 1920 to 1962, and residents suffered serious sequelae of arsenic intoxication. We have performed annual medical examinations of these residents since 1974, allowing us to characterize participants' long-term health following their last exposure to arsenic. The participants could not be described as having "chronic arsenic intoxication," because their blood arsenic levels were not measured. In this study, we defined them as having "probable arsenic intoxication." Symptoms frequently involved the sensory nervous system, skin, and upper respiratory system (89.1-97.8%). In an analysis of neurological findings, sensory neuropathy was common, and more than half of the participants complained of hearing impairment. Longitudinal assessment with neurological examinations and nerve conduction studies revealed that sensory dysfunction gradually worsened, even after exposure cessation. However, we could not conclude that arsenic caused the long-term decline of sensory function due to a lack of comparisons with age-matched healthy controls. This is the first study to characterize the longitudinal sequelae after probable arsenic exposure. Our study will be helpful to assess the prognosis of patients worldwide who still suffer from chronic arsenic intoxication.

关键词： Music   Intervention   Cognition   Emotion   Aging   Rehabilitation   Stroke   Dementia  

摘要： Music has the capacity to engage auditory, cognitive, motor, and emotional functions across cortical and subcortical brain regions and is relatively preserved in aging and dementia. Thus, music is a promising tool in the rehabilitation of aging-related neurological illnesses, such as stroke and Alzheimer disease. As the population ages and the incidence and prevalence of these illnesses rapidly increases, music-based interventions that are enjoyable and effective in the everyday care of the patients are needed. In addition to formal music therapy, musical leisure activities, such as music listening and singing, which patients can do on their own or with a caregiver, are a promising way to support psychological well-being during aging and in neurological rehabilitation. This review article provides an overview of current evidence on the cognitive, emotional, and neural effects of musical leisure activities both during normal aging and in the rehabilitation and care of stroke patients and people with dementia. (C) 2017 Elsevier Masson SAS. All rights reserved.

关键词： aspiration   children   deglutition   deglutition disorders   evaluation  

摘要： Background The aim of this study was to determine the ability of the Pediatric version of the Eating Assessment Tool-10 (PEDI-EAT-10) to detect aspiration in children with neurological impairments. MethodsKey ResultsTwo hundred and fifty-four children were included. Swallowing function was imaged with videofluoroscopic swallowing study (VFSS). The penetration and aspiration scale (PAS) was used to determine the penetration and aspiration severity. Parents completed the PEDI-EAT-10, which is a 10 item, reliable, and valid dysphagia symptom specific outcome instrument. The mean age of children was 59.9155.33months (min=18, max=315), of which 52.8% were male. The mean PEDI-EAT-10 of children with airway aspiration (PAS>5) was 22.3210.73 (min=0, max=40) and the mean PEDI-EAT-10 of children who did not have aspiration (PAS<6) was 12.35 +/- 8.64 (min=0, max=40). A linear correlation was found between PEDI-EAT-10 and PAS scores of children (r=0.41, P<0.001). The sensitivity of a PEDI-EAT-10 score greater than 12 in predicting aspiration was 77% and the specificity was 54%. A PEDI-EAT-10 score greater than 12 has a positive predictive value of 69% and a negative predictive value of 64%. Conclusions and InferencesThe PEDI-EAT-10 could be used to detect unsafe airway issues to identify and refer children for further instrumental swallowing evaluation. The aim of this study was to assess the ability of the Pediatric Version of the Eating Assessment Tool (PEDI-EAT-10) for detecting aspiration in children with neurological impairments. Results from this study suggest that the PEDI-EAT-10 could be used as a discriminative tool to identify aspiration risk in children with neurological impairments.

关键词： Cardiopulmonary resuscitation   Sudden death   Subarachnoid haemorrhage   Epilepsy   Coronary angiogram  

摘要： Purpose: To explore diagnostic pitfalls and treatment issues in out-of-hospital cardiac arrest of neurological cause (OHCA-NC). Methods: Retrospective analysis of all consecutive patients from the Paris Sudden Death Expertise Centre (France) registry from May 2011 to September 2015 presenting with a sustained return of spontaneous circulation (ROSC) at hospital admission and a final diagnosis of OHCA-NC. Description of the early diagnostic checkup performed to identify the cause of cardiac arrest. Logistic multivariate regression to identify factors associated with immediate coronary angiography (iCAG) in OHCA-NC patients. Results: Among 3542 patients with ROSC, a final diagnosis of OHCA-NC was established in 247 (7%). The early diagnostic check-up consisted in a total of 207 (84%) immediate cranial CT-scan, 66 (27%) iCAG and 25 (10%) chest CT-scan. The brain CT-scan allowed identifying a neurovascular cause in 116 (47%) patients. An iCAG was performed as the first line exam in 57 (23%) patients, in whom a final diagnosis of neurovascular cause for OHCA-NC was later identified in 41 patients. By multivariate analysis, decision for iCAG was independently associated with ST-segment elevation on post-ROSC electrocardiogram (OR, 5.94;95%CI, 2.14-18.28;P = 0.0009), whereas an obvious cause of cardiac arrest on scene was negatively associated with iCAG (OR, 0.14;95%CI, 0.02-0.51;P = 0.01). Conclusions: OHCA-NC is a rare event that is mainly related to neurovascular causes. The initial ECG pattern may be a confounder regarding triage for early diagnostic check-up. Further studies are required to explore the potential harmfulness associated with decision to perform an iCAG in this population.