关键词： Case report   Diabetic ketoacidosis   Diffusion restriction   Rhabdomyolysis   Polyneuromyopathy   Critical illness myopathy and neuropathy  

摘要： Introduction This case series highlights rare reversible neurological complications encountered in two children who presented with diabetic ketoacidosis (DKA) and were critically ill. Case reports The first child was a 5-month-old baby with transient neonatal diabetes who had prolonged coma, atypical findings of diffusion restriction on neuroimaging and later quadriplegia due to rhabdomyolysis when he presented with DKA. The second child was a 16-year-old boy with classical type 1 diabetes mellitus who developed quadriplegia due to rhabdomyolysis and polyneuromyopathy. Both the children were critically ill with hemodynamic compromise, renal impairment and dyselectrolytemia. Both had full recovery on follow-up at the end of 1 month and 10 months, respectively. Conclusion The severity of DKA at presentation with altered sensorium and/or hemodynamic compromise with renal involvement and dyselectrolytemia and a coexistent infection may have more propensity for such complications. Strict implementation of DKA management guidelines and a multidisciplinary approach to deal with the critically ill child is needed to optimize the outcome in such situations.

关键词： Lead   Occupational   Exposure   Neurological   Damage   Neurotoxic   Systematic review   Association  

摘要： Lead (Pb) is one of the most toxic and abundant elements in the earth's crust, which is pointed out that the intoxication caused by it may damage biological systems. This systematic review with meta-analysis aimed to evaluate the association between Pb exposure and neurological damage. This work was executed according to PRISMA guidelines, and seven online databases were consulted. Based on the PECO strategy, studies presenting humans as participants (populations) exposed to Pb (exposure) compared to non-exposed to Pb (control) evaluating the neurological impairment (outcome) were included. The quality and risk of bias were verified by Fowkes and Fulton checklist. Two meta-analyses were conducted considering Digit Symbol and Profile Mood tests. The certainty of the evidence was evaluated with the GRADE tool. This review identified 2019 studies, of which 12 were eligible according to the inclusion criteria. Eight were considered with a low risk of bias. All the studies elected showed that exposure to Pb is associated with neurological damage, but the meta-analysis did not show any difference for the evaluated tests, and the certainty of the evidence was considered very low. Nevertheless, the included studies showed that Pb occupational exposure is associated with neurological damage, and the main parameters evaluated for possible neurological damage were related to mnemonic aspects, reaction time, intelligence, attention disorders, and mood changes. Thus, our results revealed that a definitive demonstration of an association of Pb and neurological changes in humans is still a pending issue. Future studies should take into consideration more confident methods to answer this question.

关键词： adverse effect   demyelinating disease   safety   SARS‐   CoV‐   2  

摘要： The coronavirus disease 2019 caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has become a pandemic with people infected in almost all countries. The most efficient solution to end this pandemic is a safe and efficient vaccine. Classic platforms are used to develop vaccines including live-attenuated vaccine, inactivated vaccine, protein subunit vaccine, and viral vector. Nucleic acid vaccine uses next-generation platforms for their development. Vaccines are now rushing to the market. Eleven candidates are in advance development. These comprise inactivated vaccines, viral vector vaccine, nucleic acid vaccine, and the protein subunit vaccine platform, which are now quite advanced in trials in various geographic and ethnic populations. The reported severe adverse effects raised the worries about their safety. It becomes critical to know whether these vaccines will cause neurologic disorders like previously recognized vaccine-related demyelinating diseases, fever-induced seizure, and other possible deficits. We reviewed the most promising COVID-2 vaccines with a particular interest in mechanism(s) and adverse effect(s). We exemplify potential neurological problems these vaccines could cause by looking at previous studies. The current evidence indicated a minor risk of the acute neurological disorders after the application. The observation of the long-time effect is still needed.

关键词： Rabies   recovery   survivor   intravenous immunoglobulin   cerebrospinal fluid   serology  

摘要： An 18-year-old girl presented with headache, vomiting, dysarthria, diplopia and ataxia following a stray dog bite 20 days prior to presentation. The dog was killed by her neighbours. She received three doses of anti-rabies vaccine and one dose of rabies immunoglobulin (RVIG) before presentation. Diagnosis of rabies was confirmed based on four-fold rise in serum and CSF rabies virus neutralizing antibodies (RVNA) by rapid fluorescent focus inhibition test (RFFIT) titres coupled with history of dog-bite and a normal MRI. With supportive care and empirical administration of IVIG her condition improved over months and at her final visit to hospital at five years, she was physically independent with mild persistent dysarthria. Ours is one of the longest followed cases of rabies survivor in whom we had used IVIG empirically and could demonstrate the decline in the RVNA level in CSF and verify the steady neurological recovery over five years.

关键词： Neuro-telehealth   Televisit   Telemedicine   Teleneurorehabilitation   COVID-19   Neurology  

摘要： Background Lombardy was severely hit by the COVID-19 pandemic since February 2020 and the Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before the pandemic, Televisits were neither recognized nor priced. Methods At the Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient clinics to deliver Neuro-telemedicine services, including Televisits and Teleneurorehabilitation, since March 2020. A dedicated Working Group prepared the procedure, tested the system, and designed satisfaction questionnaires for adults and children. Results After a pilot phase, we prepared a procedure for Telemedicine outpatient clinics which was approved by hospital directions. It included prescription, booking, consenting, privacy and data protection, secure connection with patients (Teams Microsoft 365), electronic report preparation and delivery, reporting, and accountability of the services. During the March-September 2020 period, we delivered 3167 Telemedicine services, including 1618 Televisits, to 1694 patients (972 adults, 722 children) with a wide range of chronic neurological disorders. We successfully administered different clinical assessment and scales. Satisfaction among patients and caregivers was very high. Conclusions During the dramatic emergency, we were able to take care of more than 1600 patients by organizing Neuro-telehealth in a few weeks, lessening the impact of the pandemic on fragile patients with chronic neurological disorders;this strategy is now stably embedded in our care pathways. In Italy, Telehealth is at present recognized and priced and is becoming a stable pillar of the health system.

关键词： Gastrostomy   Neurologically impaired   Gastroesophageal reflux   Child  

摘要： Purpose To evaluate the necessity of preoperative screening for gastroesophageal reflux (GER) prior to gastrostomy in neurologically impaired children. Methods Medical records of neurologically impaired children, who have undergone laparoscopic gastrostomy between January, 2004 and June, 2018, were retrospectively reviewed. Before the year of 2014, all patients who required gastrostomy had been routinely screened for GER pre-operatively, but after the year of 2014, only the ones with GER-related symptoms were tested. The characteristics and outcomes of Routine Screening (RS) and Selective Screening (SS) periods were compared. Results There were 55 and 54 patients in the RS and SS periods, respectively. Demographics, primary pathologies, and mean follow-up durations (> 2 years) were similar. The rate of GER screening was significantly lower in the SS period (29.6% vs. 63.6%). The rate of Laparoscopic Nissen Fundoplication (LNF) combined with gastrostomy was significantly lower in the SS period (14.8% vs. 38.2%). During follow-up, the rates of new-onset GER symptoms (13% vs. 11.7%) and LNF requirement later on (6.5% vs. 8.8%) were statistically similar between the two periods. Conclusion Routine screening for GER is not necessary prior to gastrostomy in neurologically impaired children. Symptom-selective screening algorithm is safe and efficient in the long term.

关键词： Velopharyngeal dysfunction   Velopharyngeal insufficiency   Non-cleft VPD   22q11  

摘要： Objective: A significant proportion of the referrals made to a speech investigation clinic in a cleft unit include patients with non-cleft velopharyngeal dysfunction (VPD). This study aims to quantify the underlying diagnoses of these patients and describe the investigative pathway and diagnostic information subsequent to presentation in our clinic. Materials and methods: The case notes of 136 consecutive patients with non-cleft VPD who attended our Velopharyngeal Investigation (VPI) clinic from July 2014-December 2019 were reviewed. Results: In the paediatric group (n = 118) the most common cause was 22q11 chromosomal anomalies (n = 46), while post palatal tumour resection was the commonest cause of acquired non-cleft VPD in adults (n = 8). Fiftynine patients were referred to the clinic with a known underlying pathology such as a syndromic diagnosis. Of those presenting without a known aetiology, fifty-eight were referred onto our genetics and/or neurology colleagues. Although a genetic or neurological cause could not be identified in some of those patients, thirty-one patients received a new diagnosis, with subsequent implications for ongoing care. Conclusion: There are a wide range of diagnoses resulting in non-cleft VPD, but there are very few large-scale studies focusing on investigating these patients for an underlying aetiology. This study highlights the role of genetics and neurology in the diagnosis and management plan for this cohort of patients.

关键词： biomarker counseling   dementia   diagnostic disclosure   mild cognitive impairment   postdiagnostic support  

摘要： Background and purpose Careful counseling through the diagnostic process and adequate postdiagnostic support in patients with mild cognitive impairment (MCI) is important. Previous studies have indicated heterogeneity in practice and the need for guidance for clinicians. Methods A joint European Academy of Neurology/European Alzheimer's Disease Consortium panel of dementia specialists was appointed. Through online meetings and emails, positions were developed regarding disclosing a syndrome diagnosis of MCI, pre- and postbiomarker sampling counseling, and postdiagnostic support. Results Prior to diagnostic evaluation, motives and wishes of the patient should be sought. Diagnostic disclosure should be carried out by a dementia specialist taking the ethical principles of "the right to know" versus "the wish not to know" into account. Disclosure should be accompanied by written information and a follow-up plan. It should be made clear that MCI is not dementia. Prebiomarker counseling should always be carried out if biomarker sampling is considered and postbiomarker counseling if sampling is carried out. A dementia specialist knowledgeable about biomarkers should inform about pros and cons, including alternatives, to enable an autonomous and informed decision. Postbiomarker counseling will depend in part on the results of biomarkers. Follow-up should be considered for all patients with MCI and include brain-healthy advice and possibly treatment for specific underlying causes. Advice on advance directives may be relevant. Conclusions Guidance to clinicians on various aspects of the diagnostic process in patients with MCI is presented here as position statements. Further studies are needed to enable more evidence-based and standardized recommendations in the future.

关键词： adverse effect   blood blot   safety   SARS-CoV-2  

关键词： COVID-19   Neuropathogenesis   NF-κ   B   Nrf2   Oxidative stress  

摘要： The severity of COVID-19 infection is surging day by day. With the cases increasing daily, it is becoming more and more essential to understand the pathogenic mechanisms underlying the severity of the disease. It is now well known that the infection manifests itself primarily as respiratory, but the involvement of the other organ systems has now been documented in many studies. SARS-CoV-2 can invade the nervous system by a multitude of proposed mechanisms that have been discussed in this review. NF-kappa B and Nrf2 are transcription factors that regulate genes responsible for inflammatory and anti-oxidant response respectively. Specific focus in this review has been given to NF-kappa B and Nrf2 pathways that are involved in the cytokine storm and oxidative stress that are the hallmarks of COVID-19. As the immune injury is an important mechanism of neuro-invasion and neuroinflammation, there is the possible involvement of these two pathways in the neurological complications. The crosstalk mechanisms of these signaling pathways have also been discussed. Immuno-modulators both synthetic and natural are promising candidates in catering to the pathologies targeted in the aforementioned pathways.