关键词： Cervical myelopathy   Decompression   Laminoplasty   Spinal cord compression  

摘要： Objective To compare the neurological recovery between patients with adequate and inadequate immediate spinal cord expansion after sufficient decompression in degenerative cervical myelopathy (DCM). Methods Twenty-seven patients subjected to French-door laminoplasty underwent the guidance of intraoperative ultrasound (IOUS) and were prospectively included. The modified Japanese Orthopedic Association (mJOA) score was evaluated before surgery and at 12 months postoperatively. The maximum spinal cord compression (MSCC) after sufficient decompression was calculated on the IOUS image;patients were divided into adequate (MSCC >= 0.95) and inadequate (MSCC < 0.95) expansion groups according to the MSCC. The mJOA score, spinal cord hyperechogenicity, age at surgery, symptom duration, occupational rate of the spinal canal, and the minimum anteroposterior diameter of the spinal cord between the two groups were compared. Results Initially, 2 cases showed residual compression on IOUS;after further decompression, all patients acquired sufficient decompression. All patients achieved improvements in mJOA scores with an average recovery rate of 68.6 +/- 20.3%. The recovery rate of the mJOA score of the inadequate expansion group was significantly inferior to that of the adequate expansion group (59.2 +/- 21.7% versus 76.2 +/- 16.2%, p = 0.028). The spinal cord hyperechogenicity was more common in the inadequate expansion group, while the spinal cord anteroposterior diameter of the inadequate expansion group was significantly smaller than that of the adequate expansion group. Conclusions The application of IOUS in French-door laminoplasty could help to confirm sufficient decompression for the treatment of DCM. Inadequate spinal cord expansion after sufficient decompression had the high possibility of predicting less satisfactory neurological recovery of DCM.

关键词： Nervous system   Coronavirus (CoV)   SARS-CoV-2   COVID-19   Neuropathogenesis   ACE2   Multiple sclerosis   Cerebrovascular disease   Guillain-Barré   syndrome (GBS)  

摘要： The coronavirus disease 2019 (COVID-19) pandemic is an issue of global significance that has taken the lives of many across the world. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the virus responsible for its pathogenesis. The pulmonary manifestations of COVID-19 have been well described in the literature. Initially, it was thought to be limited to the respiratory system;however, we now recognize that COVID-19 also affects several other organs, including the nervous system. Two similar human coronaviruses (CoV) that cause severe acute respiratory syndrome (SARS-CoV-1) and Middle East respiratory syndrome (MERS-CoV) are also known to cause disease in the nervous system. The neurological manifestations of SARS-CoV-2 infection are growing rapidly, as evidenced by several reports. There are several mechanisms responsible for such manifestations in the nervous system. For instance, post-infectious immune-mediated processes, direct virus infection of the central nervous system (CNS), and virus-induced hyperinflammatory and hypercoagulable states are commonly involved. Guillain-Barre syndrome (GBS) and its variants, dysfunction of taste and smell, and muscle injury are numerous examples of COVID-19 PNS (peripheral nervous system) disease. Likewise, hemorrhagic and ischemic stroke, encephalitis, meningitis, encephalopathy acute disseminated encephalomyelitis, endothelialitis, and venous sinus thrombosis are some instances of COVID-19 CNS disease. Due to multifactorial and complicated pathogenic mechanisms, COVID-19 poses a large-scale threat to the whole nervous system. A complete understanding of SARS-CoV-2 neurological impairments is still lacking, but our knowledge base is rapidly expanding. Therefore, we anticipate that this comprehensive review will provide valuable insights and facilitate the work of neuroscientists in unfolding different neurological dimensions of COVID-19 and other CoV associated abnormalities.

关键词： Ischemic stroke   MicroRNA-532-5p   BTB and CNC homology 1  

摘要： Objective: MicroRNA (miR)-532-5p has been reported to protect against ischemic stroke (IS), while the underlying mechanism of miR-532-5p targeting BTB and CNC homology 1 (BACH1) in IS remains unknown. Thus, we aim to detect the role of miR-532-5p in IS via targeting BACH1. Methods: Blood samples were collected from IS patients and healthy controls. Rat middle cerebral artery occlusion (MCAO) models were established and intracerebrally injected with altered miR-532-5p or BACH1 plasmid vectors to reveal their roles in neurological function, brain tissue pathology and inflammation in MCAO. Expression of miR-532-5p and BACH1 in patients' blood samples and rat brain tissues was assessed, and the targeting relationship between miR-532-5p and BACH1 was confirmed. Results: MiR-532-5p was downregulated and BACH1 was upregulated in IS. BACH1 was targeted by miR-532-5p. Restored miR-532-5p or inhibited BACH1 improved neurological function and inhibited inflammation and apoptosis in MCAO rats. On the contrary, miR-532-5p reduction or BACH1 overexpression had totally opposite effects on MCAO rats. The protective role of miR-532-5p for MCAO rats was reversed by upregulated BACH1. Conclusion: MiR-532-5p upregulation protects against neurological deficits after IS through inhibition of BACH1.

关键词： TiO2/MXene-PVA/GO hydrogel   Electrochemical sensor   Voltammetry   Urinary norepinephrine   Neurological disorder  

摘要： A hydrogel based on titanium dioxide/MXene with polyvinyl alcohol/graphene oxide (TiO2/MXene-PVA/GO) composite was successfully formulated and applied to modify a screen-printed carbon electrode (SPCE) for urinary norepinephrine (NE) detection. The characterization confirmed that a nanocomposite hydrogel structure of TiO2/MXene-PVA/GO was formed. The as-prepared hydrogel substantially enhanced the sensor performances due to electrocatalytic activity of TiO2, high conductivity of MXene, and auto-sample preconcentration via PVA/GO hydrogel. The electrochemical behavior of NE was investigated by cyclic voltammetry and amperometry. Under optimized conditions, the TiO2/MXene-PVA/GO hydrogel/SPCE response due to the oxidation of NE at +0.4 V (vs. Ag vertical bar AgCl) is proportional to the concentration of NE over 0.01 to 1.00 mu M (R-2 = 0.9968) and 1.00 to 60.0 mu M (R-2 = 0.9936) ranges with a detection limit (3 sigma) of 6 nM without interferent effect from common interferences in urine. Furthermore, this sensor was employed for urinary NE determination and validated by high performance liquid chromatography (HPLC) with a UV detector at 280 nm;the average recovery was found to be 97.6 to 102%, with a relative standard deviation (RSD) less than 4.9%. This device was sensitive enough to evaluate an early stage of neurological disorder via detecting clinically relevant NE level. Eventually, it was integrated with pantyliners which could be a potential wearable sensor in the near future.

关键词： health-related quality of life   neurologically impaired   cochlear implantation  

摘要： Objectives Evaluate health-related quality-of-life (HRQoL) measures in noncommunicative, neurologically impaired, developmentally delayed (NCNIDD) children compared to normally developing children (ND) who undergo cochlear implantation (CI). Study Design Cross-sectional survey of parents of NCNIDD and ND children who underwent CI. Setting Two tertiary care medical centers. Methods Questions comprising the Children With Cochlear Implants: Parental Perspectives survey were used in analysis. Average responses were calculated within 8 domains (communication, general functioning, self-reliance, well-being and happiness, social relationships, education, effects of implantation, and support the child). Groups were compared using Wilcoxon rank-sum test. Impact of individual and collective socioeconomic/family covariates was assessed using analysis of variance. Results Surveys were returned from 17 of 42 (40%) patients with NCNIDD and 35 of 131 (27%) patients with ND. There were no statistically significant differences between groups in survey response rate, age, sex, age at implantation, current age, or duration of implant use. Overall, parents of children with ND responded more favorably in all domains vs children with NCNIDD. Parents of children with NCNIDD answered neutrally or favorably in all domains, except "support the child" and "self-reliance" domains. Differences between groups in mean domain scores, univariably and almost universally when adjusting for socioeconomic and family variables individually and collectively, were statistically significant. Conclusions This study suggests that HRQoL benefits of CI are perceived in most domains by parents of children with NCNIDD, albeit less strongly than children with ND. A survey sensitive to challenges of children with NCNIDD may better capture benefits that may not be apparent in this study.

关键词： complication   gastroesophageal reflux disease   gastrostomy   neurological impairment   prognostic nutritional index  

摘要： Background Neurological impairment (NI) is responsible for most conditions that require a permanent gastrostomy tube. The present study assessed the occurrence of short- and long-term complications after video-assisted gastrostomy (VAG) in patients with NI. Methods The incidence of short- (<6 months) and long-term (over 2 years) complications of VAG were analyzed in a retrospective study. The differences between the incidence of the complications of VAG according to the age at surgery (<= 15 years vs. >= 16 years) were also evaluated. The short- and long-term complications observed were granulation tissue formation, infection requiring antibiotic treatment, skin problems, perigastrostomy leakage, vomiting, accidental tube dislodgement, dumping syndrome, ileus, and peritonitis. Results Eighty-two patients were evaluated for short- and long-term complications. The long-term complication rate was significantly lower than the short-term complication rate (P = 0.0026). Onodera's prognostic nutritional index before VAG in patients with long-term complications was significantly lower than in patients without such complications (P = 0.046). The incidence of long-term granulation tissue formation, infection, and vomiting were significantly lower than those of similar short-term complications. Long-term skin problems were associated with short-term skin problems (odds ratio: 18.95;95% confidence interval: 4.53-92.98;P < 0.001). The number of patients >= 16 years old with short- and long-term skin problems was significantly higher than in patients <= 15 years old (P = 0.0014 and P = 0.0073, respectively). Conclusions The incidence rate of granulation tissue formation and infection after VAG were lower in the long term than in the short term. However, patients >= 16 years old presented with persistent complications.

关键词： COVID-19   Neuroimmunology   Cerebrovascular disease   Critical illness  

摘要： Coronavirus Disease 2019 is predominantly a disorder of the respiratory system, but neurological complications have been recognised since early in the pandemic. The major pathophysiological processes leading to neurological damage in COVID-19 are cerebrovascular disease, immunologically mediated neurological disorders and the detrimental effects of critical illness on the nervous system. It is still unclear whether direct invasion of the nervous system by the Severe Acute Respiratory Syndrome Coronavirus 2 occurs;given the vast numbers of people infected at this point, this uncertainty suggests that nervous system infection is unlikely to represent a significant issue if it occurs at all. In this review, we explore what has been learnt about the neurological complications of COVID-19 over the course of the pandemic, and by which mechanisms these complications most commonly occur.

关键词： cerebrotendinous xanthomatosis   clinical heterogeneity   neurological involvement   newborn screening   tendon xanthomas  

摘要： Background Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. Neurological symptoms are considered to be a clinical hallmark of untreated adult patients. We describe a 'milder CTX phenotype', without neurological involvement. Methods We performed a retrospective patient file study in 79 genetically confirmed Dutch patients with CTX (55 patients aged >= 21 years) to study the clinical heterogeneity of CTX. We studied the frequency of adult patients with CTX without neurological involvement at diagnosis, in our Dutch cohort, and included a family from South Africa and patients from Italy, USA, Chile and Asia from the literature. Results In total, we describe 19 adult patients with CTX from 16 independent families, without neurological symptoms at diagnosis. A relatively small percentage (21%, n = 4) had a history of cataract. The majority, 84% (n = 16), presented with tendon xanthomas as the sole or predominant feature. The majority of patients showed increased plasma cholesterol levels. No correlation was found between this 'milder phenotype', the cholestanol levels and the CYP27A1 genotype. In addition, we describe three novel mutations in the CYP27A1 gene. Conclusions This study shows the clinical heterogeneity of CTX, highlighting the existence of a 'milder phenotype', that is without neurological involvement at diagnosis. Adult patients with CTX may present with tendon xanthomas as the sole or predominant feature, mimicking familial hypercholesterolemia. It is important to realize that the absence of neurological symptoms does not rule out the development of future neurological symptoms. As CTX is a treatable disorder, early diagnosis and initiation of treatment when additional clinical signs occur is therefore essential.

关键词： Congenital nephrotic syndrome   Genetics   Galloway-Mowat syndrome   Pierson syndrome   Charcot-Marie-Tooth   Microcephaly  

摘要： Genetic studies of hereditary nephrotic syndrome (NS) have identified more than 50 genes that, if mutated, are responsible for monogenic forms of steroid-resistant NS (SRNS), either isolated or syndromic. Most of these genes encode proteins expressed in the podocyte with various functions such as transcription factors, mitochondrial proteins, or enzymes, but mainly structural proteins of the slit diaphragm (SD) as well as cytoskeletal binding and regulator proteins. Syndromic NS is sometimes associated with neurological features. Over recent decades, various studies have established links between the physiology of podocytes and neurons, both morphologically (slit diaphragm and synapse) and functionally (signaling platforms). Variants in genes expressed in different compartments of the podocyte and neurons are responsible for phenotypes associating kidney lesions with proteinuria (mainly Focal and Segmental Glomerulosclerosis (FSGS) or Diffuse Mesangial Sclerosis (DMS)) and central and/or peripheral neurological disorders. The Galloway-Mowat syndrome (GAMOS, OMIM#251300) associates neurological defects, microcephaly, and proteinuria and is caused by variants in genes encoding proteins of various functions (microtubule cytoskeleton regulation (WDR73), regulation of protein synthesis via transfer RNAs (KEOPS and WDR4 complexes)). Pierson syndrome (OMIM#609049) associating congenital nephrotic syndrome and central neurological and ophthalmological anomalies is secondary to variants in LAMB2, involved in glomerular and ocular basement membranes. Finally, Charcot-Marie-Tooth-FSGS (OMIM#614455) combines peripheral sensory-motor neuropathy and proteinuria and arises from INF2 variants, resulting in cytoskeletal polymerization defects. This review focuses on genetic syndromes associating nephrotic range proteinuria and neurological involvement and provides the latest advances in the description of these neuro-renal disorders.