关键词： Traumatic brain injury   epidemiology   outcome   Glasgow Outcome Scale   Disability Rating Scale   demographic  

摘要： Primary Objective: We evaluated the neurologic, psychological and vegetative outcome, the health status and changes of the personal and occupational status of patients after traumatic brain injuries (TBIs). Correlations between outcome parameters and basic demographic factors and initial clinical status parameters of the patients were assessed. Research Design: Monocentric, retrospective follow-up analysis. Methods and Procedures: We evaluated the neurologic, psychological and vegetative outcome and health status of patients, who survived TBI with a mean follow-up time of 54 months. Glasgow Outcome Scale (GOS), Disability Rating Scale (DRS) and a questionnaire on Quality of Life were used for outcome measurement. The personal and occupational status, trauma-derived changes to that status and medical and demographic factors that have an impact on the health condition of patients after TBI were assessed. Main Outcomes and Results: With a median GOS of 5.0 and median DRS of 3.0, our patients showed just moderate disabilities. Fifty-six per cent of the patients felt 'very good' or 'good'. Age, gender, the preclinical Glasgow Coma Scale (GCS), state of pupil reaction and surgical treatment did not seem to affect the GOS or DRS. Correlations between body mass index, age and gender and distinct neurologic, psychological and vegetative symptoms were found. The personal status did not change significantly after TBI. Changes to occupational and socioeconomic status were evident. Conclusions: One-third of the patients are heavily affected by neurological, psychological and vegetative symptoms after surviving TBI. Some demographic factors affected this integrity.

关键词： Antibodies   Encephalitozoon cuniculi   Neurological findings   Lagomorphs  

摘要： Encephalitozoon cuniculi, a zoonotic and opportunistic pathogen, can cause latent infection, especially in lagomorphs. Nowadays, this member of the Eukaryotes has drawn significant attention in the fields of veterinary and public health. The purpose of this study was to determine the seroprevalence of infection in a New Zealand rabbit farm that has a clinical history of neurological manifestations including head tilt ataxia, aggressiveness, seizures, and circling and rotational movements around the body length axis, but the general conditions and food intake were normal. Blood samples were taken from 42 breeding rabbits and researched for E. cuniculi anti-bodies. Out of that, 25 (59%) animals resulted positive against the pathogen. The rabbit was found to be sero-positive for E. cuniculi antibodies, but negative for Toxoplasma gondii and Listeria monocytogenes antibodies. Hematological and serum biochemical parameters were measured at reference intervals. No brain tissue impairment was observed the computed tomography (CT) scan. As a result of these histopathological findings, the brain cortex presented severe neuronal degeneration and partial myelin loss, with reactive diffuse gliosis against the parasite spores was observed to the histopathology. These results are possibly related to the early stage of infection because the parasitic infestation comprise long time spreading. E. cuniculi DNA was detected on brain tissues using polymerase chain reaction (PCR), and it partial DNA sequence was identified as E. cuniculi genotype I.

关键词： CEREBROSPINAL fluid   LUMBAR puncture   HIV infections   ALTERED states of consciousness   TRYPANOSOMIASIS  

摘要： Analysis of cerebrospinal fluid (CSF) obtained by lumbar puncture (LP) is an essential step for the diagnostic approach of neurological disorders, in particular neuroinfections. In low-resource settings, it is even often the only available diagnostic method. Despite its key contribution, little is known on the risks and benefits of LP in the large tropical areas where hospital-based neuroimaging is not available. The objectives of this study were to assess the safety and diagnostic yield of LP in a rural hospital of central Africa and to identify predictors of CSF pleocytosis (white blood cell count > 5/mu L) as surrogate marker of neuro-infections. From 2012 to 2015, 351 patients admitted for neurological disorders in the rural hospital of Mosango, Kwilu province, Democratic Republic of Congo, were evaluated using a systematic clinical and laboratory workup and a standard operating procedure for LP. An LP was successfully performed in 307 patients (87.5%). Serious post-LP adverse events (headache, backache or transient confusion) were observed in 23 (7.5%) of them but were self-limiting, and no death or long-term sequelae were attributable to LP. CSF pleocytosis was present in 54 participants (17.6%), almost always associated with neuro-infections. Presenting features strongly and independently associated with CSF pleocytosis were fever, altered consciousness, HIV infection and positive screening serology for human African trypanosomiasis. In conclusion, the established procedure for LP was safe in this hospital setting with no neuroimaging and CSF analysis brought a substantial diagnostic contribution. A set of presenting features may help accurately selecting the patients for whom LP would be most beneficial.

关键词： Nonketotic-hyperglycinemia   Glycine cleavage system   Glycine   Glycine receptors   NMDA receptors  

摘要： Nonketotic-hyperglycinemia (NKH) is an autosomal recessive disorder associated with grave brain malformations and severe neurological symptoms, and also characterized by accumulation of a large amount of glycine in body fluids. NKH is caused by an inherited deficiency of the glycine cleavage system (GCS), which is the main system to degrade glycine in mammalians. These severe symptoms and grave bran malformations are not normally observed in the other amino acid metabolic disorders, suggesting that GCS should have unknown pivotal roles in brain development and function. Interestingly, GCS is indispensable in supplying proliferating cells with 5,10-methylenetetrahydrofolate as a one-carbon donor, which is essential for the synthesis of DNA in cell proliferation. Since GCS is expressed intensely and ubiquitously in the neuroepithelium, the lack of GCS might greatly impair the proliferation of neural stem cells. On the other hand, this system is also very important to regulate extracellular glycine concentrations. Since glycine is an important neurotransmitter, which binds to both glycine receptors and NMDA receptors, high glycine concentrations caused by the deficiency of GCS might cause the aberrant neurotransmission in the patient brains. Considering these unique two faces of GCS functions, proliferation disturbance and aberrant neurotransmission are intricately mixed in the developing brain, leading to the grave brain malformations and sever neurological symptoms. (C) 2018 Published by Elsevier Ltd.

关键词： Traumatic brain injury (TBI)   JDP2   Inflammation   Apoptosis   Caspase-3  

摘要： Traumatic brain injury (TBI) is a major cause of death and disability, also resulting in long-term serious neurological impairment in survivors. However, the pathogenesis of TBI has not been fully understood. Jun dimerization protein 2 (JDP2) is a member of the AP-1 family of transcription factors, containing a basic region-leucine zipper motif. JDP2 plays essential roles in various cellular processes, including differentiation, apoptosis, senescence and aging. In the study, we attempted to explore the effects of JDP2 on TBI progression both in vivo and in vitro. The wild type (WT) and JDP2 knockout (KO) mice were employed in our study and were subjected to TBI. The results showed that JDP2-deficient mice exhibited improved cognitive functions in TBI mice. The inflammatory cytokines, glial amount and apoptosis, as well as the protein of cleaved Caspase-3 were significantly increased after TBI in WT mice, and all these up-regulation were significantly mitigated by JDP2 knockout in mice. We also found that TBI induced JDP2 expression in hippocampus of mice. Lipopolysaccharide (LPS) also stimulated JDP2 expression levels in astrocytes isolated from WT mice, indicating the critical role of JDP2 in TBI. Suppressing Caspase-3 activation could reduce LPS-induced inflammation in astrocytes. Consistent with the results in vivo, LPS-induced inflammatory response and apoptosis were reversed by JDP2 deficiency in cells. Notably, we found that over-expressing JDP2 could further promoted inflammation, apoptosis and Caspase-3 activation induced by LPS. Collectively, JDP2 knockout effectively attenuate TBI in vivo and in vitro through blocking Caspase-3 activation, providing a potential therapeutic target for TBI or even other neurological disorders. (C) 2018 Published by Elsevier Inc.

关键词： PIGS   glycosylphosphatidylinositol   epilepsy   seizures   inherited GPI deficiency   glycosylphosphatidylinositol biosynthesis defect  

摘要： Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that are increasingly recognized as a result of advances in whole-exome sequencing (WES) and whole-genome sequencing (WGS). IGDs cause a series of overlapping phenotypes consisting of seizures, dysmorphic features, multiple congenital malformations, and severe intellectual disability. We present a study of six individuals from three unrelated families in which WES or WGS identified bi-allelic phosphatidylinositol glycan class S (PIGS) biosynthesis mutations. Phenotypes included severe global developmental delay, seizures (partly responding to pyridoxine), hypotonia, weakness, ataxia, and dysmorphic facial features. Two of them had compound-heterozygous variants c.108G>A (***36*) and c.101T>C (***34Pro), and two siblings of another family were homozygous for a deletion and insertion leading to ***439_Lys451delinsArgLeuLeu. The third family had two fetuses with multiple joint contractures consistent with fetal akinesia. They were compound heterozygous for c.923A>G (p.G1u308Gly) and c.468+1G>C, a splicing mutation. Flow-cytometry analyses demonstrated that the individuals with PIGS mutations show a GPI-AP deficiency profile. Expression of the ***36* variant in PIGS-deficient HEK293 cells revealed only partial restoration of cell-surface GPI-APs. In terms of both biochemistry and phenotype, loss of function of PIGS shares features with PIGT deficiency and other IGDs. This study contributes to the understanding of the GPI-AP biosynthesis pathway by describing the consequences of PIGS disruption in humans and extending the family of IGDs.

关键词： Dementia   Epidemiology   Low and middle-income countries   Mortality   Neurological signs  

摘要： Background: Neurodegenerative processes in the elderly damage the brain, leading to progressive, incapacitating cognitive, behavioral, and motor dysfunctions which culminate in dementia. Fully manifest dementia is likely to be preceded by the presence of neurological signs, which could serve as early determinants of dementia and predictors of mortality. The aims of this study were to assess the construct validity of a neurological battery assessed among older adults living in Latin America, and to test the association of groups of neurological signs with dementia cross-sectionally, and mortality longitudinally. Methods: The 10/66 Dementia Research Group collected information on neurological symptoms via the NEUROEX assessment in population based surveys of older adults living in low and middle-income countries. Data from 10,856 adults participating in the baseline assessment of the 10/66 study and living in Cuba, Dominican Republic, Peru, Venezuela and Mexico were analysed. Exploratory and confirmatory analysis were used to explore dimensionality of neurological symptoms. Poisson regression analyses were used to link groups of neurological signs with dementia at baseline. Cox hazard regression models were used to explore the predictive validity of neurological signs with mortality at follow up. Results: Exploratory and confirmatory factor analyses revealed four dimensions of neurological signs, which are associated with lesions of specific brain regions. The identified factors showed consistency with groups of neurological signs such as frontal, cerebellar, extrapyramidal, and more generalized gait disturbance signs. Regression analyses revealed that all groups of neurological signs were positively associated with dementia at baseline and predicted mortality at follow up. Conclusions: Our findings support the construct and predictive validity of the NEUROEX assessment, linking neurological and gait impairments with dementia at baseline, and with mortality at follow

关键词： 神经病学   卒中  

摘要： John Cooke（1756-1838,图1）是英国医生,他对卒中的贡献是在1820-1823年发表了《神经病学》（ATreatiseon Nervous Diseases）两卷一书。该书来自他1820-1822年在当时英国医学会著名的Croonian讲座的手稿,书中总结性地分析了截瘫、偏瘫、单独的神经瘫痪、癫痫、卒中、昏睡和脑积水等疾病的临床状况。

关键词： 教学模式   神经内科   住院医师规范化培训  

摘要： 目的探讨基于案例的学习(CBL)与基于问题的学习(PBL)结合与传统以授课为基础的学习(lecture-based learning,LBL)的教学模式的优劣性比较。方法选取28名在苏州大学附属第二医院神经内科接受住院医师规范化培训的学员,随机分为接受CBL和PBL联合教学组和LBL传统教学组,每组14名,二组均按教学任务完成授课。将出科理论考试、实践技能考核和问卷调查结果作为评估内容。结果二组在年龄、性别、入科考试成绩等方面差异无统计学意义。在理论考试方面,联合教学组的学员平均成绩(82.86±8.94)分,LBL组(76.00±7.95)分,差异有统计学意义(P<0.05)。实践技能考核方面,联合教学组学员平均成绩(84.07±7.34)分,显著优于LBL组(78.07±4.81)分,差异有统计学意义(P<0.05)。问卷调差结果显示联合教学组学员在自我学习能力提升、综合思辨能力提升、谈话沟通技巧提升、分析处理问题能力提升、创新意识培养5个方面评价均高于传统教学组,差异有统计学意义(P<0.05)。结论无论是神经内科出科理论考试、实践技能考核,还是学生的问卷调查,CBL和PBL联合教学均明显优于LBL传统教学方法,显著提高了规培效果。