关键词： carpal tunnel syndrome   electrodiagnosis   electromyography   nerve conduction study   neuromuscular ultrasound   personalized medicine   precision medicine  

摘要： See article on pages 661–667 in this issue.

摘要： This commentary is on the original article by Burgess et al. on pages 576–583 of this issue.

关键词： clinical genetics   ethics   genomics   informed consent   neurodevelopmental disorder   next generation sequencing   paediatric neurology   variant of uncertain significance  

摘要： Genetic tests are an efficient and effective diagnostic tool in paediatric neurology, and are increasingly incorporated into the diagnostic work-up of our patients. Significant advances in genetic technologies in recent years has expanded both the scale at which genetic testing can be done, and the speed with which results can be returned. However, there is no “perfect” genetic test which will identify all clinically relevant genetic variants. Understanding the appropriate application of each test type is therefore key to securing a diagnosis. It is vital that consent to genetic testing is freely given and adequately informed. In this article, using clinical vignettes, we will discuss the strengths and limitations of each genetic test, and give an overview of how to take informed consent. Our ability to identify variants has outstripped our ability to interpret them reliably so caution should be exercised. We describe the challenges of variant interpretation, and the importance of Clinical Genetics expertise in this process. © 2021 Elsevier Ltd

关键词： Hospitals   Heart arrest   Cardiopulmonary resuscitation   Hospital mortality  

摘要： Aim: We aimed to evaluate neurological profiles of patients with in-hospital cardiac arrest (IHCA) from early time points to long-term follow-up periods. Methods: For this prospective cohort study, we established a neurological rapid response team, and serially evaluated the neurological status of patients with IHCA from the initial resuscitation to 12 months after the onset of IHCA. The primary outcome was good neurological status defined as a Clinical Performance Category score of 1 similar to 2 at 12 months after IHCA. The secondary outcomes included the awakening and neurological recovery during the first week, the survival and neurological status at hospital discharge, and the survival at 12 months. Results: A total of 291 adult patients with IHCA were included. On the first day and during the first week after IHCA, the awakening was achieved in 61 (21.0 %) and 119 patients (40.9 %), respectively;and neurological recovery in 12 (4.1 %) and 46 patients (15.8 %), respectively. Epileptic seizures developed in 9.7 % following restoration of spontaneous circulation. At hospital discharge, 106 patients (36.4 %) had survived;among them, 63.2 % showed good neurological status. At 12 months, 63 (21.6 %) patients survived;among them, 81.7 % showed good neurological status (17.0 % among all patients with IHCA). Of patients without awakening during the first 3 and 7 days, 2.7 % and 1.2 % showed good neurological status at 12 months, respectively. Conclusions: Among patients with IHCA, awakening and neurological recovery were remarkable throughout the first week. Survival and good neurological status were substantial at 12 months after IHCA.

关键词： Natural products   mitochondrial dysfunction   oxytosis   ferroptosis   aging   neurological disorders   neuropharmacology   drug discovery  

摘要： Mitochondria are the primary source of energy production in the brain thereby supporting most of its activity. However, mitochondria become inefficient and dysfunctional with age and to a greater extent in neurological disorders. Thus, mitochondria represent an emerging drug target for many age-associated neurological disorders. This review summarizes recent advances (covering from 2010 to May 2020) in the use of natural products from plant, animal, and microbial sources as potential neuroprotective agents to restore mitochondrial function. Natural products from diverse classes of chemical structures are discussed and organized according to their mechanism of action on mitochondria in terms of modulation of biogenesis, dynamics, bioenergetics, calcium homeostasis, and membrane potential, as well as inhibition of the oxytosis/ferroptosis pathway. This analysis emphasizes the significant value of natural products for mitochondrial pharmacology as well as the opportunities and challenges for the discovery and development of future neurotherapeutics. (c) 2020 Elsevier Inc. All rights reserved.

摘要： Patients with coronavirus disease 2019 (COVID-19) can present with distinct neurological manifestations. This study shows that inflammatory neurological diseases were associated with increased levels of interleukin (IL)-2, IL-4, IL-6, IL-10, IL-12, chemokine (C-X-C motif) ligand 8 (CXCL8), and CXCL10 in the cerebrospinal fluid. Conversely, encephalopathy was associated with high serum levels of IL-6, CXCL8, and active tumor growth factor beta 1. Inflammatory syndromes of the central nervous system in COVID-19 can appear early, as a parainfectious process without significant systemic involvement, or without direct evidence of severe acute respiratory syndrome coronavirus 2 neuroinvasion. At the same time, encephalopathy is mainly influenced by peripheral events, including inflammatory cytokines. ANN NEUROL 2021

摘要： Aim To determine the prevalence of long-term mechanical insufflation-exsufflation (MI-E) and concomitant mechanical ventilation in children with neurological conditions, with reported reasons behind the initiation of treatment. Method This was a population-based, cross-sectional study using Norwegian national registries and a questionnaire. Results In total, 114 of 19 264 children with a neurological condition had an MI-E device. Seventy-three of 103 eligible children (31 females, 42 males), median (min-max) age of 10 years 1 month (1y 5mo-17y 10mo), reported their MI-E treatment initiation. Overall, 76% reported airway clearance as the main reason to start long-term MI-E. A prophylactic use was mainly reported by children with neuromuscular disorders (NMDs). Prevalence and age at initiation differed by diagnosis. In spinal muscular atrophy and muscular dystrophies, MI-E use was reported in 34% and 7% of children, of whom 83% and 57% respectively received ventilator support. One-third of the MI-E users were children with central nervous system (CNS) conditions, such as cerebral palsy and degenerative disorders, and ventilator support was provided in 31%. The overall use of concomitant ventilatory support among the long-term MI-E users was 56%. Interpretation The prevalence of MI-E in a neuropaediatric population was 6 per 1000, with two-thirds having NMDs and one-third having conditions of the CNS. The decision to initiate MI-E in children with neurological conditions relies on clinical judgment.

关键词： Children   Liver transplantation   Living-donor liver transplantation   Neurological complications   Tacrolimus  

摘要： Aim: Liver transplantation (LT) has been used as a definitive management for children with end-stage liver disease or acute liver failure. Living-donor LT (LDLT) has been a common type of LT performed in Asian countries, including Japan, where deceased donors are rarely available. However, the neurological complications (NCs) associated with LDLT remain unknown. The purpose of this study was to clarify the characteristics of NCs in children after LDLT. Methods: This study is a retrospective observational study carried out at a tertiary children?s hospital in Japan. We studied children who had undergone LDLT between January 2001 and January 2020. Results: We examined 602 cases of LT, of which 559 were LDLT cases (92.9%). NCs after LT were present in 21 cases (3.8%). The most common neurological symptoms were seizure (n = 17), whereas disturbance of consciousness without seizure was observed in four cases. The frequency of NCs for each of the indications was 12.2% for fulminant hepatic failure, 6.5% for metabolic liver disease, and 0.7% for cholestatic liver disease. Interpretation: We report the characteristics of NCs after LDLT in children. The frequency of NCs after LT was high in cases of fulminant hepatic failure and metabolic diseases, who might have had neurological symptoms or impaired consciousness before LT. (C) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.