关键词： Brain stem involvement   Children   Striatonigral degeneration   VAC14 related neurological disease  

摘要： VAC14 related childhood-onset striatonigral degeneration was first defined in 2016 in two unrelated children with sudden onset neurological disease and regression of developmental milestones. Up to now, 11 cases have been reported. VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate (PI (3, 5)P2) and PI (3, 5)P2 is critical for the survival of neural cells. Pathogenic VAC14 variants result in striatonigral degeneration chacterised by prominent vacuolation of neurons in basal ganglia. Here, we present a patient with a homozygous pathogenic VAC14 variant, whose symptoms started at an early age and who had both basal ganglia and brain stem involvement. Our case is one of the youngest patients in literature and involvement of the brain stem is defined for the first time in VAC14 related neurological disease.

关键词： logic programming   answer set programming   rule-based systems   deductive reasoning   neural networks   neurological disorders   machine learning   declarative formalisms   bioinformatics  

摘要： Deductive formalisms have been strongly developed in recent years;among them, answer set programming (ASP) gained some momentum and has been lately fruitfully employed in many real-world scenarios. Nonetheless, in spite of a large number of success stories in relevant application areas, and even in industrial contexts, deductive reasoning cannot be considered the ultimate, comprehensive solution to artificial intelligence;indeed, in several contexts, other approaches result to be more useful. Typical bioinformatics tasks, for instance classification, are currently carried out mostly by machine learning (ML)-based solutions. In this paper, we focus on the relatively new problem of analyzing the evolution of neurological disorders. In this context, ML approaches already demonstrated to be a viable solution for classification tasks;here, we show how ASP can play a relevant role in the brain evolution simulation task. In particular, we propose a general and extensible framework to support physicians and researchers at understanding the complex mechanisms underlying neurological disorders. The framework relies on a combined use of ML and ASP, and is general enough to be applied in several other application scenarios, which are outlined in the paper.

关键词： chronic disease   COVID-19   human   neurology   practice guideline  

摘要： Background and purpose The recent SARS-CoV-2 pandemic has posed multiple challenges to the practice of clinical neurology including recognition of emerging neurological complications and management of coexistent neurological diseases. In a fast-evolving pandemic, evidence-based studies are lacking in many areas. This paper presents European Academy of Neurology (EAN) expert consensus statements to guide neurologists caring for patients with COVID-19. Methods A refined Delphi methodology was applied. In round 1, statements were provided by EAN scientific panels (SPs). In round 2, these statements were circulated to SP members not involved in writing them, asking for agreement/disagreement. Items with agreement >70% were retained for round 3, in which SP co-chairs rated importance on a five-point Likert scale. Results were graded by importance and reported as consensus statements. Results In round one, 70 statements were provided by 23 SPs. In round two, 259/1061 SP member responses were received. Fifty-nine statements obtained >70% agreement and were retained. In round three, responses were received from 55 co-chairs of 29 SPs. Whilst general recommendations related to prevention of COVID-19 transmission had high levels of agreement and importance, opinion was more varied concerning statements related to therapy. Conclusion This is the first structured consensus statement on good clinical practice in patients with neurological disease during the COVID-19 pandemic that provides immediate guidance for neurologists. In this fast-evolving pandemic, a rapid response using refined Delphi methodology is possible, but guidance may be subject to change as further evidence emerges.

关键词： Botulinum neurotoxin type A   Chronic sialorrhea   IncobotulinumtoxinA   Pediatric  

关键词： Resident education   Graduate medical education   Assessment   Clinical competency   Professional development  

摘要： Background: The Educational Milestones developed by the Accreditation Council for Graduate Medical Education (ACGME) are a construct used to evaluate the development of core competencies during residency and fellowship training. The milestones were developed to create a framework for professional development during graduate medical education. The first iteration of milestones for the child neurology residency was implemented in 2015. In the years that followed, the ACGME received and reviewed feedback about the milestones and set out to revise them. Methods: A committee was assembled to review the original milestones and develop a new set of milestones. The group was also encouraged to not only consider the child neurology residency graduate of today but also the graduate of tomorrow, taking into account growing fields such as genetics and technology. Results: A diverse group of 12 individuals, including 10 child neurologists (all of whom were current or previous program directors or associate program directors), one child neurology resident, and one nonphysician program coordinator, were recruited from programs of varying size across the country. Conclusions: The committee developed a revision to the child neurology milestones. All changes made were with a focus on how the milestones can be useful to trainees, program directors, and clinical competency committee members. Implementation and further feedback should help guide future revisions. These changes should help trainees, clinical competency committee members, and program directors find more meaning from their use. (C) 2020 Elsevier Inc. All rights reserved.

关键词： Ischemic stroke   Leukocyte   Microglial activation   Motor-coordination recovery   Neurodegeneration   Thromboinflammation  

摘要： Sepsis predisposes for poor stroke outcome. This association suggests that sepsis disturbs post-ischemic tissue survival and brain remodeling. To elucidate this link, we herein exposed mice to 30 min intraluminal middle cerebral artery occlusion (MCAO) and induced a sepsis-like state at 72 h post-ischemia by intraperitoneal delivery of Escherichia coli lipopolysaccharide (LPS;three doses of 0.1 or 1 mg/kg, separated by 6 h), a major component of the bacterium's outer membrane. Neurological recovery, ischemic injury, brain remodeling and immune responses were evaluated over up to 56 days post-sepsis (dps) by behavioral tests, immunohistochemistry and flow cytometry. Delivery of 1 mg/kg but not 0.1 mg/kg LPS reduced rectal temperature over 48 h by up to 3.4 +/- 3.1 degrees C, increased general and focal neurological deficits in the Clark score over 72 h and increased motor-coordination deficits in the tight rope test over up to 21 days. Notably, 1 mg/kg, but not 0.1 mg/kg LPS increased intercellular adhesion molecule-1 abundance on ischemic microvessels, increased microvascular thrombosis and increased patrolling monocyte and T cell infiltrates in ischemic brain tissue at 3 dps. Infarct volume was increased by 1 mg/kg, but not 0.1 mg/kg LPS at 3 dps (that is, 6 days post-MCAO), as was brain atrophy at 28 and 56 dps. Microglial activation in ischemic brain tissue, evaluated by morphology analysis of Iba1 immunostainings, was transiently increased by 0.1 and 1 mg/kg LPS at 3 dps. Our data provide evidence that neurological recovery and brain remodeling are profoundly compromised in the ischemic brain post-sepsis as a consequence of cerebral thromboinflammation.

摘要： We recently read with interest the article titled "Sarcoidosis with cutaneous perineural granulomas and neurological manifestations: A potential mimicker of leprosy."1 In this case report, the authors describe a case of systemic sarcoidosis with cutaneous involvement that demonstrated the rare finding of perineural granulomas on histopathology.1 The clinicopathologic mimicry of this sarcoidosis case to tuberculoid leprosy is particularly remarkable. We would like to emphasize the relative regularity of perineural granulomas in sarcoidosis and to further muddy the pathologic distinction between cutaneous sarcoidosis and tuberculoid leprosy. In stark contrast to the scarcity of the literature concerning perineural granulomas, our findings seem to indicate that perineural granulomas in sarcoidosis are not uncommon; this particular histopathologic feature has been either overlooked or under-reported. [Extracted from the article]

关键词： brain tumor   ethics   neurooncology   residency training   outcome   pediatric  

摘要： Neuro-oncology is a rapidly evolving subspecialty that involves the management of patients with primary or metastatic central and peripheral nervous system neoplasms, as well as any other disorders or complications affecting the nervous system that result either directly or indirectly from central nervous system or systemic malignancies and related treatment. Neurologists serve a critical role in the multidisciplinary management of these complex patients. As leaders of the Child Neurology Society Special Interest Group in NeuroOncology, we propose ways to provide sufficient exposure, minimize knowledge gaps, and optimize training experiences in neuro-oncology for child neurology residency programs.

关键词： Simulation   Neurology education   Graduate medical education   OSCE   Assessment  

摘要： Background: The purpose of this study was to implement an objective structured clinical examination for child neurology trainees for formative feedback regarding communication skills. Effective communication skills are essential and teachable, but tools to formally assess them are limited. An objective structured clinical examination is one such tool, but these examinations have not been developed for child neurology residents. Methods: We developed nine standardized scenarios that highlighted communication challenges commonly encountered in child neurology. Child neurology trainees participated in three objective structured clinical examination events with three scenarios each over three academic years. Standardized patients portrayed patients or their parents. Each trainee-standardized patient encounter was evaluated by an observing faculty member using a modified Gap-Kalamazoo Communication Skills Assessment Form, the standardized patient who provided direct feedback, and by the participating trainee. Results: We refined the process of case writing, standardized patient training, and trainee evaluation throughout the three-year pilot. Results indicated rater agreement ranging from 32% to 56%. Trainees reported that the cases were challenging and reflective of real life and that the experience helped improve their communication skills. Conclusions: An objective structured clinical examination can provide a standardized setting for formative feedback regarding communication skills in child neurology residency programs. The communication challenges posed by common clinical scenarios involving critically ill children, children with undetermined prognosis, and the triad of parent, child, and physician can be realistically modeled in an objective structured clinical examination. We developed cases and a process that were valuable and that we plan to sustain for resident education related to communication skills. (C) 2020 Elsevier Inc. All rights reserved.

关键词： Epileptic spasms   Hypsarrhythmia   Infantile spasms   Treatment  

摘要： Justification West syndrome is one of the commonest causes of epilepsy in infants and young children and is a significant contributor to neurodevelopmental morbidity. Multiple regimens for treatment are in use. Process An expert group consisting of pediatric neurologists and epileptologists was constituted. Experts were divided into focus groups and had interacted on telephone and e-mail regarding their group recommendations, and developed a consensus. The evidence was reviewed, and for areas where the evidence was not certain, the Delphi consensus method was adopted. The final guidelines were circulated to all experts for approval. Recommendations Diagnosis should be based on clinical recognition (history/home video recordings) of spasms and presence of hypsarrhythmia or its variants on electroencephalography. A magnetic resonance imaging of the brain is the preferred neuroimaging modality. Other investigations such as genetic and metabolic testing should be planned as per clinico-radiological findings. Hormonal therapy (adrenocorticotropic hormone or oral steroids) should be preferred for cases other than tuberous sclerosis complex and vigabatrin should be the first choice for tuberous sclerosis complex. Both ACTH and high dose prednisolone have reasonably similar efficacy and adverse effect profile for West syndrome. The choice depends on the preference of the treating physician and the family, based on factors of cost, availability of infrastructure and personnel for daily intramuscular injections, and monitoring side effects. Second line treatment options include anti-epileptic drugs (vigabatrin, sodium valproate, topiramate, zonisamide, nitrazepam and clobazam), ketogenic diet and epilepsy surgery.