关键词： Genetic polymorphism   Glutathione S-tranferases   Neurological disorders  

摘要： Glutathione S-tranferases (GSTs) are phase II drug metabolizing enzymes, they play crucial role in detoxification of environmental pollutants, carcinogens, drugs, xenobiotics and oxidative stress products. Genetic differences in expression and activity of GSTs are due to the existence of polymorphic alleles which encode them. Because of genetic polymorphism the GST activity has altered that lead to the increased susceptibility for toxic chemical compounds. GST genetic polymorphism is the main reason for many neurological dysfunctions. GST has over expressed in epileptic brain and pi (π) GST has used to predict stroke;mu (μ) and pi (π) GST are over expressed in Alzheimer's disease (AD). Null and single nucleotide polymorphism of GST has associated with many neurodisorders. Over all, it can be concluded that the GST genetic polymorphism has associated with neurodegenerative diseases. © 2018 Elsevier B.V.

关键词： Aneurysm expansion   Aneurysm growth   Flow diverter   Intracranial aneurysm   Neurological deficit  

摘要： OBJECTIVE: Patients with large and giant intracranial aneurysms (lAs) can experience neurological deterioration within 6 months after successful flow diverter (FD) placement. The purpose of the present study was to assess whether the occurrence of neurological deterioration can he linked to IA expansion within 6 months after FD treatment. METHODS: From 2010 to 2016, 45 FD procedures were performed in 44 patients with a large or giant IA. From this group, we selected all patients (14 patients with 15 lAs) with neurological deterioration within 6 months after FD treatment. All these patients had undergone follow-up imaging studies within the same period. The patients were then divided into 2 groups, those with mass effect-related and those with ischemia-related symptoms. The volumes of all treated lAs were determined through manual segmentation of the available pre- and postoperative imaging studies to determine IA expansion after FD treatment. To rule out false-positive findings, we only considered an IA volume increase of >20% after FD treatment as a true IA volume increase. RESULTS: During the follow-up period, 6 !As increased in volume and 9 lAs did not. More patients presenting with mass effect-related symptoms showed IA expansion (6 of 10 lAs) compared with patients presenting with ischemia-related symptoms (0 of 5 lAs;Fisher's exact test, 2-sided;P = 0.044). CONCLUSION: The volume of large and giant lAs can increase in the first 6 months after FD treatment. More patients presenting with mass effect-related symptoms showed IA expansion than patients with ischemia-related symptoms.

关键词： graduate medical education   qualitative inquiry   quality improvement  

摘要： The goal of medical residency programs is to provide educational opportunities to residents to facilitate their transformation into independent and competent health care practitioners. Despite an abundance of quantitative data on resident performance, qualitative data are lacking in published literature. Our study involved a standardized interview with all graduating child neurology residents to better understand their educational experiences during training. Qualitative data analysis resulted in 5 basic themes experienced by all trainees: (1) appreciation for faculty supportiveness, (2) appreciation for faculty receptiveness to feedback, (3) the difficulty of balancing clinical and academic demands during residency, (4) the benefit of structured mentorship and research, and (5) the value of independent and experiential learning. Our findings demonstrate that qualitative inquiry can be used to better understand the educational experience of child neurology residents. The themes identified through this qualitative analysis were useful targets for programmatic quality improvements.

摘要： An editorial is presented on the development in neurology highlighting the understanding of disease and novel forms of treatment. It explores the improvements in the management and outcome of multiple sclerosis with immunomodulation therapies. It also discusses the consistency of the prevalence of Parkinson's disease internationally.

关键词： diagnostic accuracy   hedge   MEDLINE   neurology   search strategy   systematic review  

摘要： Background and purpose Methods Our aim was to study the quality of the literature search strategies used in recent systematic reviews and to develop and assess the diagnostic accuracy of six new search strategies (i.e. hedges). Six neurological conditions were studied: migraine, stroke, dementia, epileptic seizures, Parkinson's disease and multiple sclerosis. Two reviewers independently assessed the quality of the search strategies used in systematic reviews published in 2015-2016. Complex hedges pertaining to the six conditions for use in Ovid MEDLINE were developed. Their diagnostic accuracy was compared to simple, single-term keyword searches. Results Conclusions Almost 60% of quality criteria for the overall literature search strategy used in 182 systematic reviews were not respected. Over 30% of search strategies relied on a single keyword to identify the neurological condition. The sensitivities of our complex hedges amongst 10 311 articles were between 83% and 95%, significantly higher than the simple keyword searches (as low as 48%). The specificities were greater than 97%. There is great room for improvement in the search strategies used in systematic reviews of neurological conditions. Complex hedges were developed and validated to improve the accuracy of such searches. It is expected that this will lead to higher quality systematic reviews and meta-analyses.

关键词： Bayley Scales of Infant Development   birth weight   gestational age   neuronal development   prematurity   retinal nerve fibre layer  

摘要： Purpose The objective of this study was to investigate the relationship between visual acuity, peripapillary retinal nerve fibre layer (pRNFL), retinal thickness at the fovea and other factors with the neurologic status of former preterm children. Methods Results In this cross-sectional hospital based study in a maximum care tertiary centre, detailed anthropometric and ophthalmological data of former preterm children ranging from 4 to 10 years of age with a gestational age (GA) <= 32 weeks were assessed. Analyses of the correlation between pRNFL and foveal thickness, as well as visual acuity (VA) parameters at 4-10 years of age, with neurological development were evaluated at 2 years of age by Bayley Scales II of Infant Development, including Psychomotor Developmental Index (PDI) and Mental Developmental Index (MDI). Data were available for 106 former preterm children. Univariate analysis revealed a correlation between PDI with pRNFL thickness (B = 0.43;p = 0.013), VA (B = -29.2;p < 0.001), GA (B = 2.7;p = 0.002), retinopathy of prematurity (ROP;B = -16.3;p < 0.001) and intraventricular haemorrhages (IVH;B = -22.9;p < 0.001) but not with strabismus or foveal thickness. In the multivariable analysis, the association remained for visual acuity and IVH, but not for pRNFL thickness or ROP. Mental Developmental Index (MDI) was associated with visual acuity (B = -34.3;p = 0.001), GA (B = 2.53;p = 0.02) and IVH (B = -15.4;p = 0.02), the latter also in the multivariable analysis. Conclusion This study revealed an association between PDI at 2 years of age and lower visual acuity later in childhood. However, there was no correlation between retinal morphology and neurologic outcome in former preterm children after adjusting for several potential confounders.

摘要： Aim Method Infants born preterm are at risk of cerebral palsy (CP) and motor or cognitive developmental delay. For clinicians, it is essential to know the relative predictive accuracy of the most commonly used neuroimaging and neurophysiological tests for the early prediction of adverse neurodevelopmental outcome. The aim of this study was to compare the accuracy of these tests in survivors of a population of infants born very preterm. A retrospective cohort study was performed in 163 children born before 32 weeks gestational age. We compared the accuracy in predicting adverse neurodevelopmental outcome at the age of 2 years 6 months of early and late cranial ultrasound (CUS), magnetic resonance imaging, somatosensory evoked potentials after stimulation of the posterior tibial nerve, and electroencephalography by calculating positive and negative likelihood ratios. Results Interpretation An abnormal early CUS is the best predictor of the presence of CP (positive likelihood ratio 6.09), motor developmental delay (positive likelihood ratio 3.11), and cognitive developmental delay (positive likelihood ratio 5.66). Overall, negative likelihood ratios were poor, ranging between 0.49 and 0.98, meaning that a normal test result had only minimal influence on the probability of adverse neurological outcome. None of the diagnostic tests had a good performance in predicting future neurodevelopmental problems in infants born preterm. A normal test result provided very little clinically useful information. What this paper adds Resumen An abnormal early cranial ultrasound (positive test result) is the best predictor of adverse neurodevelopmental outcome. All negative results have poor predictive value of future neurodevelopmental problems.

摘要： Aim Method To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to analyse candidate genes. This was a case series of children with benign paroxysmal torticollis of infancy (BPTI) diagnosed from 1998 to 2005, at Astrid Lindgren Children's Hospital, Stockholm, Sweden. A neurological examination and a formalized motor assessment were performed from 2005 to 2007. At a second follow-up, in 2014 to 2015, the children and their parents were interviewed and candidate genes analysed. Results Interpretation The mean age of the eight females and three males included in the second follow-up was 13 years 9 months (SD 2y 2mo). All motor assessments were normal. Five had developed migraine, abdominal migraine, and/or cyclic vomiting. Prophylactic treatment or migraine-specific medication during attacks were not needed. No paroxysmal tonic upgaze, benign paroxysmal vertigo, epilepsy, episodic ataxia, or paroxysmal dyskinesia was reported. Rare genetic variants in CACNA1A and ATP1A2 were found in two children. Five had a family history of migraine. BPTI is transient and does not lead to neurological sequelae. Most children afflicted experience either a mild migraine or no paroxysmal disorder at all in their adolescence. Genetic variants in candidate genes were few, indicating potential genetic heterogeneity. What this paper adds Resumen After resolution of their benign paroxysmal torticollis of infancy (BPTI), children display no gross motor delay. Most adolescents who previously had BPTI have not developed migraine. No mutations in candidate genes, known to cause hemiplegic migraine, were found. Associated symptoms are often lacking during episodes of torticollis.

关键词： IDO   kynurenine   pain   Sjogren's syndrome   tryptophan  

摘要： For decades, neurological, psychological, and cognitive alterations, as well as other glandular manifestations (EGM), have been described and are being considered to be part of Sjogren's syndrome (SS). Dry eye and dry mouth are major findings in SS. The lacrimal glands (LG), ocular surface (OS), and salivary glands (SG) are linked to the central nervous system (CNS) at the brainstem and hippocampus. Once compromised, these CNS sites may be responsible for autonomic and functional disturbances that are related to major and EGM in SS. Recent studies have confirmed that the kynurenine metabolic pathway (KP) can be stimulated by interferon- (IFN-) and other cytokines, activating indoleamine 2,3-dioxygenase (IDO) in SS. This pathway interferes with serotonergic and glutamatergic neurotransmission, mostly in the hippocampus and other structures of the CNS. Therefore, it is plausible that KP induces neurological manifestations and contributes to the discrepancy between symptoms and signs, including manifestations of hyperalgesia and depression in SS patients with weaker signs of sicca, for example. Observations from clinical studies in acquired immune deficiency syndrome (AIDS), graft-versus-host disease, and lupus, as well as from experimental studies, support this hypothesis. However, the obtained results for SS are controversial, as discussed in this study. Therapeutic strategies have been reexamined and new options designed and tested to regulate the KP. In the future, the confirmation and application of this concept may help to elucidate the mosaic of SS manifestations.

关键词： Ear disease   epidemiology   eye disease   major depression   neurodevelopment   neurological disease   offspring   population based   Schizophrenia  

摘要： Background. Neurological, visual and hearing deviations have been observed in the offspring of parents with schizophrenia. This study test whether children to parents hospitalized with schizophrenia have increased the likelihood of childhood neurological disorder. Methods. Among all parents in Sweden born 1950-1985 and with offspring born 1968-2002: 7107 children with a parent hospitalized for schizophrenia were compared to 172 982 children with no parents hospitalized for schizophrenia or major depression, as well as to 32 494 children with a parent hospitalized for major depression as a control population with another severe psychiatric outcome. We estimated relative risks (RR) and two-sided 95% confidence intervals calculated from Poisson regression. Results. Children to parents with schizophrenia were more likely than controls to have been hospitalized before the age of 10 with a diagnosis of cerebral palsy, RR = 1.76 (95% CI: 1.15-2.69);epilepsy, RR = 1.78 (95% CI: 1.33-2.40), combined neurological disease, RR = 1.33 (95% CI: 1.11-1.60) and certain diseases of the eye, RR = 1.92 (95% CI: 1.17-3.15) and ear, RR = 1.18 (95% CI: 1.05-1.32). Similar disease-risk-pattern was found for children to parents hospitalized with a diagnosis of major depression. A specific risk increase for strabismus RR = 1.21 (95%CI: 1.05-1.40) was found for off-spring with parental depression. Conclusions. Compared with children to healthy parents, children to parents with schizophrenia have increased risk of a variety of neurological disorders as well as visual and hearing disorders at an early age. The risk increase was not specific to schizophrenia but was also seen in children to parents with a diagnosis of major depression.