关键词： COVID-19   Epilepsy   Focal seizures with impaired awareness   Encephalitis  

摘要： We report here the first case of a young individual otherwise healthy, who presented with frequent focal seizures with impaired awareness as a possible long-term complication of severe acute respiratory syndrome coronavirus-2 infection. Seizures were documented by electroencephalography and responded clinically and neuro-physiologically to antiseizure therapy. The patient underwent an extensive investigation including cerebrospinal fluid examination, conventional and quantitative brain magnetic resonance imaging, and 18-FDG positron emission tomography. Beyond the clinical interest, this case contributes to clarify the possible pathways by which SARS-CoV-2 may enter the central nervous system and cause long-term neurological complications.

关键词： healthcare utilization   population study   rare diseases   rare neurological diseases  

摘要： Background There has been increasing attention focused on the epidemiology of rare diseases (RDs) in recent years. Rare neurological diseases (RNDs) constitute a significant proportion of RDs;however, relevant research is still lacking. Methods A list of ICD-10 codes corresponding to RNDs was compiled using adaptations from the Orphanet Classification of Rare Diseases, and classified into rare epilepsy, movement-related, neurocutaneous, neuroimmune, neurometabolic and neurodegenerative, neuromuscular and other RNDs. Using the Clinical Data Analysis and Reporting System, which holds public hospital healthcare records of Hong Kong anonymously, we calculated the prevalence and healthcare utilization of RND patients between 2014 and 2018. The list of RNDs was also used to review relevant pharmacological trials within the International Clinical Trials Registry Platform between 2009 and 2018. Results The prevalence of RNDs in Hong Kong is 3.6 in 1,000 individuals. Patients with RNDs had frequent emergency department, outpatient and inpatient healthcare utilization. The average annual cost per patient is estimated at HKD 182,075 (euro 19,688). Different categories of RNDs showed different patterns of healthcare utilization. Moreover, there were only 677 RND-related pharmacological trials during the study period, and no trial was found for 78% of RNDs. Conclusions This is one of the first population studies on the prevalence and healthcare utilization patterns of RNDs, with comprehensive reviews of RND-related pharmacological research. It shows high healthcare utilization rates among patients with RNDs, as well as a wide research gap in many RNDs. We call for better attention and tailored healthcare for these patients.

关键词： Evoked potential   Fracture   Acetabulum  

摘要： Objectives: To identify the value of the evoked potential as an adjuvant predictive tool in pelvic ring and acetabulum fractures focusing on the neurological deficit. Material and methods: Adhering to PRISMA guidelines, we performed a systematic review with a priori design to identify randomized controlled trials, retrospective and prospective cohort studies, and casecontrol studies of interventions in acetabular and pelvic ring injuries. The search strategy included the use of Title/Abstract related to: ("somatosensory" or "evoked potential" or"electrophysiology") and("randomized controlled trials" or "clinical studies" or "controlled clinical trial" or "systematic literature review" or"meta-analysis" or"review" or"overview") and("complications"). From01/1985to12/2019, we searched MEDLINE, PubMed, EMBASE, and Cochrane, Centre for Reviews and Dissemination, reference lists and journals. The PRISMA checklist was adopted to evaluate reporting quality. Two reviewers independently selected studies and extracted data. Statistical analysis was conducted to assess the probability of evoked potential tests performed on random samples, with the assumption of normal distribution of the populations from which they were derived and knowledge of the parametric variance. Results: Five articles fulfilled eligibility criteria. Conclusion: Evoked potential tests can quickly and accurately detect imminent neurological impairment during surgery of acetabular and pelvic ring injuries. This results in significantly better surgical outcomes, although in some cases the irreversible nature of the injury cannot be prevented. (C) 2021 Published by Elsevier Ltd.

关键词： 28-day mortality   mNUTRIC score   neurological intensive care unit   NUTRIC score   nutrition risk  

摘要： Background Critically ill patients who are hospitalized in a neurological intensive care unit (NICU) are largely susceptible to nutrition risk. However, only a limited number of studies have investigated the applicable assessment tool in NICUs. Methods This was a prospective observational study conducted at a single-center NICU. A total of 140 adult patients who were hospitalized for >24 hours were enrolled. The Nutritional Risk Screening 2002, Nutrition Risk in the Critically ill (NUTRIC), and modified NUTRIC (mNUTRIC) scores were applied for the assessment of nutrition risk. Analyses of multivariable logistic regression were performed by considering a 28-day mortality as the outcome of interest. Results Nutrition risk was commonly identified in NICU patients. Multivariate analysis revealed that age >= 60 years, hospital infection, mechanical ventilation, and high nutrition risk (mNUTRIC score >= 5) independently increased 28-day mortality in NICU patients. For subgroups of patients with a prolonged length of stay, high nutrition risk (mNUTRIC score >= 5) has always been an independent risk factor of 28-day mortality. Both NUTRIC and mNUTRIC scores were able to predict 28-day mortality, with area under the receiver operating characteristic curves of 0.857 (95% CI, 0.786-0.928) and 0.856 (95% CI, 0.786-0.927), respectively. Conclusion The mNUTRIC scoring system is not only a useful tool for nutrition risk assessment but also, and more importantly, it is independently related to the risk of 28-day mortality in NICU patients. Therefore, mNUTRIC scoring is an appropriate tool for nutrition risk assessment and prognosis prediction of NICU patients.

关键词： Dyskinesia   Movement disorders   Epilepsy   Mouse model   Paroxysmal disorders  

摘要： Paroxysmal kinesigenic dyskinesia is an episodic movement disorder caused by dominant mutations in the proline-rich transmembrane protein PRRT2, with onset in childhood and typically with improvement or resolution by middle age. Mutations in the same gene may also cause benign infantile seizures, which begin in the first year of life and typically remit by the age of 2 years. Many details of PRRT2 function at the synapse, and the effects of mutations on neuronal excitability in the pathophysiology of epilepsy and dyskinesia, have emerged through the work of several groups over the last decade. However, the age dependence of the phenotypes has not been explored in detail in transgenic models. Here, we report our findings in heterozygous and homozygous Prrt2 knockout mice that recapitulate the age dependence of dyskinesia seen in the human disease. We show that Prrt2 deletion reduces the levels of synaptic proteins in a dose-dependent manner that is most pronounced at postnatal day 5 (P5), attenuates at P60, and disappears by P180. In a test for foot slippage while crossing a balance beam, transient loss of coordination was most pronounced at P60 and less prominent at age extremes. Slower traverse time was noted in homozygous knockout mice only, consistent with the ataxia seen in rare individuals with biallelic loss of function mutations in Prrt2. We thus identify three age-dependent phenotypic windows in the mouse model, which recapitulate the pattern seen in humans with PRRT2-related diseases.

关键词： COVID-19   nerves   neurological   neuropathy   SARS-CoV-2  

关键词： Arachidnoic acid   Cardiovascular disease   Docosahexaenoic acid   FABPs   FAT   CD36   FABPpm   n-3   n-6 Fatty acids   Long-chain fatty acids   Neurology   NEFAs   Toll-like receptors   VEGF   Alzheimer's disease   Inflammation   LCPUFAs   Blood brain barrier   FATPs   Endothelium   COX   Prostaglandins   Cancers   Brain  

摘要： The dysregulation of fat metabolism is involved in various disorders, including neurodegenerative, cardiovascular, and cancers. The uptake of long-chain fatty acids (LCFAs) with 14 or more carbons plays a pivotal role in cellular metabolic homeostasis. Therefore, the uptake and metabolism of LCFAs must constantly be in tune with the cellular, metabolic, and structural requirements of cells. Many metabolic diseases are thought to be driven by the abnormal flow of fatty acids either from the dietary origin and/or released from adipose stores. Cellular uptake and intracellular trafficking of fatty acids are facilitated ubiquitously with unique combinations of fatty acid transport proteins and cytoplasmic fatty acid-binding proteins in every tissue. Extensive data are emerging on the defective transporters and metabolism of LCFAs and their clinical implications. Uptake and metabolism of LCFAs are crucial for the brain's functional development and cardiovascular health and maintenance. In addition, data suggest fatty acid metabolic transporter can normalize activated inflammatory response by reprogramming lipid metabolism in cancers. Here we review the current understanding of how LCFAs and their proteins contribute to the pathophysiology of three crucial diseases and the mechanisms involved in the processes.

关键词： telehealth   chronic disease   neurology   rural population   patient satisfaction  

摘要： Background Patients with chronic disease in rural and remote regions endure limited access to specialised medicine. Telehealth has addressed this issue with demonstrable benefits such as a reduction in costs to patients. Aims To explore the patient satisfaction of telehealth in Australia. Methods Patients from all around Australia, including Queensland, Victoria, Tasmania, South Australia, Australian Capital Territory and even Western Australia were referred to a Sydney-based neurologist. After their initial face to face consultation, review consultations were performed by telehealth. All had chronic diseases (trigeminal neuralgia, facial pain or Parkinson disease) and received a standardised questionnaire comprising of demographics, satisfaction of technical aspects and quality of the consultation. The questionnaires were administered by the Practice Manager to remove observer bias. Results Twenty-nine patient questionnaires were completed by 13 patients who had follow-up telehealth consultations. One hundred per cent of patients reported satisfaction with the overall telehealth experience and would use it again. All were satisfied with the specialist and the privacy. The majority were satisfied with the voice quality (86%), visual quality (79%), ease of connectivity (93%) and length of the consultation (97%). In total, they saved nearly $17 000 in travel costs and on average, each patient avoided 937 km and saved $550. Conclusion Telehealth has proven to have multiple advantages, including improved access to healthcare, decreased costs, reduced inconvenience and improved management of chronic and complex conditions. The positive results advocate the use of telehealth for follow up of rural and remote patients with chronic disease.

摘要： Background: Increased coronavirus disease 2019 (COVID-19) incidence and mortality in hospitalised patients with psychiatric and neurologic disorders have been reported. Methods: The clinical records of 198 patients with psychiatric and neurological disorders hospitalised in the Dr Rafael Serrano Psychiatric Hospital in Puebla during the peak of the first wave of the COVID-19 pandemic in Mexico were analysed for psychiatric or neurologic diagnosis, gender, age, medical diagnosis, and COVID-19 prevalence. For patients with COVID-19, the effects of gender, and medical diagnosis were explored. Results: There was an increased COVID-19 prevalence in the studied population (43.94%), compared with the national Mexican (similar to 0.21% to 0.63%) and worldwide average in the general population (similar to 0.13% to 4.28%). However, the mortality rate (5.75%) was lower than that reported in Mexico (11.28%-13.55%), which was higher than the worldwide average (2.95%-4.98%). We detected increased COVID-19 prevalence in patients with comorbidities (odds ratios [OR] 0.4;95% CI: 0.2-1, P = .0447). Moreover, patients with schizophrenia spectrum disorders have a decreased predisposition to COVID-19 (OR 0.4, 95% CI: 0.2-0.8;P = .0250), as opposed to patients with intellectual disability that are predisposed to COVID-19 (OR 2.2, 95% CI: 0.2-0.8;P = .0434), in comparison with the rest of the hospital population. Conclusion: The prevalence of COVID-19 in hospitalised patients with psychiatric disorders is increased compared with that of the general population;however, a lower mortality rate was detected. Also, an increased risk of COVID-19 was detected in patients with comorbidities. Interestingly, the observed variation in COVID-19 prevalence in patients with schizophrenia and intellectual disability was not associated with age or other specific medical diagnoses.