关键词： cerebrovascular diseases   COVID-19   neuro-invasive mechanism   neurological manifestations   SARS-CoV-2  

摘要： Background and purpose Infections with coronaviruses are not always confined to the respiratory tract and various neurological manifestations have been reported. The aim of this study was to perform a review to describe neurological manifestations in patients with COVID-19 and possible neuro-invasive mechanisms of Sars-CoV-2. Methods PubMed, Web of Science and COVID-dedicated databases were searched for the combination of COVID-19 terminology and neurology terminology up to 10 May 2020. Social media channels were followed up between 15 March and 10 May 2020 for postings with the same scope. Neurological manifestations were extracted from the identified papers and combined to provide a useful summary for the neurologist in clinical practice. Results Neurological manifestations potentially related to COVID-19 have been reported in large studies, case series and case reports and include acute cerebrovascular diseases, impaired consciousness, cranial nerve manifestations and autoimmune disorders such as the Guillain-Barre syndrome often present in patients with more severe COVID-19. Cranial nerve symptoms such as olfactory and gustatory dysfunctions are highly prevalent in patients with mild to moderate COVID-19 even without associated nasal symptoms and often present in an early stage of the disease. Conclusion Physicians should be aware of the neurological manifestations in patients with COVID-19, especially when rapid clinical deterioration occurs. The neurological symptoms in COVID-19 patients may be due to direct viral neurological injury or indirect neuroinflammatory and autoimmune mechanisms. No antiviral treatments against the virus or vaccines for its prevention are available and the long-term consequences of the infection on human health remain uncertain especially with regard to the neurological system.

关键词： COVID-19   stroke   symptoms  

关键词： ALS   Huntington's disease   Parkinson's disease   Alzheimer's disease   Ischemia   Seizure   Glutamate   Dopamine   System xc   Cocaine   Alcohol   Opioid  

摘要： Ceftriaxone is a beta-lactam antibiotic that increases the expression of the major glutamate transporter, GLT-1. As such, ceftriaxone ameliorates symptoms across multiple rodent models of neurological diseases and substance use disorders. However, the mechanism behind GLT-1 upregulation is unknown. The present review synthesizes this literature in order to identify commonalities in molecular changes. We find that ceftriaxone (200 mg/kg for at least two days) consistently restores GLT-1 expression in multiple rodent models of neurological disease, especially when GLT-1 is decreased in the disease model. The same dose given to healthy/drug-naive rodents does not reliably upregulate GLT-1 in any brain region except the hippocampus. Increased GLT-1 expression does not consistently arise from transcriptional regulation, and is likely to be due to trafficking changes. In addition to altered transporter expression, ceftriaxone ameliorates neuropathologies (e.g. tau, amyloid beta, cell death) and aberrant protein expression associated with a number of neurological disease models. Taken together, these results indicate that ceftriaxone remains a strong candidate for treatment of multiple disorders in the clinic.

摘要： Dialysis disequilibrium syndrome (DDS) is a clinical syndrome of neurologic deterioration resulting from cerebral edema seen in patients undergoing dialysis [[1]-[5]]. Although previous case series have documented increases in ICP via invasive monitoring during hemodialysis, particularly in patients with traumatic brain injury [[7], [25]], there is sparse evidence regarding ICP thresholds that may be necessary to undergo dialysis successfully without neurological sequelae in patients with DDS. Further reports correlating ICP responses to the volume of CSF drained in the peritoneal dialysis period are needed to delineate optimal CSF diversion in patients with DDS. [Extracted from the article]

关键词： ubiquitin   viral oncogenesis   oncoproteins   tumor suppressors   Angelman syndrome   autism   small molecules   imprinting   E3 ligase   chromosome 15q  

摘要： The HECT (Homologous to the E6-AP Carboxyl Terminus)-family protein E6AP (E6-associated protein), encoded by theUBE3Agene, is a multifaceted ubiquitin ligase that controls diverse signaling pathways involved in cancer and neurological disorders. The oncogenic role of E6AP in papillomavirus-induced cancers is well known, with its action to trigger p53 degradation in complex with the E6 viral oncoprotein. However, the roles of E6AP in non-viral cancers remain poorly defined. It is well established that loss-of-function alterations of theUBE3Agene cause Angelman syndrome, a severe neurodevelopmental disorder with autosomal dominant inheritance modified by genomic imprinting on chromosome 15q. Moreover, excess dosage of theUBE3Agene markedly increases the penetrance of autism spectrum disorders, suggesting that the expression level of UBE3A must be regulated tightly within a physiologically tolerated range during brain development. In this review, current the knowledge about the substrates of E6AP-mediated ubiquitination and their functions in cancer and neurological disorders is discussed, alongside with the ongoing efforts to pharmacologically modulate this ubiquitin ligase as a promising therapeutic target.

关键词： Personality   Behavior   Lesion   Neurological event  

摘要： Research on changes in personality and behavior following brain damage has focused largely on negative outcomes, such as increased irritability, moodiness, and social inappropriateness. However, clinical observations suggest that some patients may actually show positive personality and behavioral changes following a neurological event. In the current work, we investigated neuroanatomical correlates of positive personality and behavioral changes following a discrete neurological event (e.g., stroke, benign tumor resection). Patients (N = 97) were rated by a well-known family member or friend on five domains of personality and behavior: social behavior, irascibility, hypo-emotionality, distress, and executive functioning. Ratings were acquired during the chronic epoch of recovery, when psychological status was stabilized. We identified patients who showed positive changes in personality and behavior in one or more domains of functioning. Lesion analyses indicated that positive changes in personality and behavior were most consistently related to damage to the bilateral frontal polar regions and the right anterior dorsolateral prefrontal region. These findings support the conclusion that improvements in personality and behavior can occur after a neurological event, and that such changes have systematic neuroanatomical correlates. Patients who showed positive changes in personality and behavior following a neurological event were rated as having more disturbed functioning prior to the event. Our study may be taken as preliminary evidence that improvements in personality and behavior following a neurological event may involve dampening of (premorbidly) more extreme expressions of emotion.

关键词： 神经系统疾病   诊疗  

ISBN: (纸本)9787547849897

摘要： 《病证结合神经病学》以现代神经病学疾病病名诊断为纲，以中国医药学辨证治疗为目，病证结合阐述临床常见神经疾病的辨识要点、临床决策、治疗推荐、常用药物、思路拓展。撰著思路新颖，内容独具一格，是一部临床价值较高的中西结合神经病学专著。病证结合临床诊疗模式是辨病与辨证相结合理论的突破与发展，将继续引领我国中医中西结合神经病学临床诊疗取得更加辉煌业绩。通过阅读本书可望提高中医、西医、中西结合临床医师的神经病诊疗水平。

关键词： Carrier testing   confidentiality   consent   diagnostic testing   genetic testing   genomics   MRCP   neurogenetics   neurology   next-generation sequencing   pre-symptomatic testing  

摘要： Genetic testing is now an integral part of most areas of medicine, including Neurology. This article aims to guide clinicians on the pathways for genetic testing, including ethical dilemmas that can arise in the care of families with a confirmed or suspected genetic condition. The new UK National Health Service Genomic Medicine Service will alter the way genomic services are offered across the country. As genetics becomes mainstream, it is increasingly important for non-geneticists to keep abreast of developments, and be aware of potential pitfalls and when to seek specialist advice. We explain patterns of inheritance, their complexities and the important distinctions between pre-symptomatic, diagnostic and carrier testing. We explore the ethical framework for testing, including confidentiality and consent, and testing in children and at-risk relatives. We outline the core technologies for genetic and genomic testing and the importance of liaison with clinical genetics services and medical genetics laboratories to remain up to date with the availability and appropriateness of any genetic test. © 2020

关键词： Genetic testing   Genetics research   Neurological disorders  

摘要： A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment. We used whole-exome sequencing as a first-line diagnostic tool in 83 Palestinian and Israeli Arab families with suspected neurogenetic disorders and were able to establish a probable genetic diagnosis in 51% of the families (42 families). Pathogenic, likely pathogenic or highly suggestive candidate variants were found in the following genes extending and refining the mutational and phenotypic spectrum of these rare disorders: ACO2, ADAT3, ALS2, AMPD2, APTX, B4GALNT1, CAPN1, CLCN1, CNTNAP1, DNAJC6, GAMT, GPT2, KCNQ2, KIF11, LCA5, MCOLN1, MECP2, MFN2, MTMR2, NT5C2, NTRK1, PEX1, POLR3A, PRICKLE1, PRKN, PRX, SCAPER, SEPSECS, SGCG, SLC25A15, SPG11, SYNJ1, TMCO1, and TSEN54. Further, this cohort has proven to be ideal for prioritization of new disease genes. Two separately published candidate genes (WWOX and PAX7) were identified in this study. Analyzing the runs of homozygosity (ROHs) derived from the Exome sequencing data as a marker for the rate of inbreeding, revealed significantly longer ROHs in the included families compared with a German control cohort. The total length of ROHs correlated with the detection rate of recessive disease-causing variants. Identification of the disease-causing gene led to new therapeutic options in four families.