关键词： Neurological softs signs   Akathisia   Parkinsonism   EPMS   Antipsychotics   Schizophrenia spectrum disorders  

摘要： Neurological soft signs (NSS) have garnered increasing attention in psychiatric research on motor abnormalities in schizophrenia spectrum disorders (SSD). However, it remains unclear whether the assessment of NSS severity could have been confounded by current antipsychotic dosage. In this study, we recruited 105 patients with SSD that underwent a comprehensive motor assessment evaluating NSS and extrapyramidal motor symptoms (EPMS) by means of standardized instruments. Current antipsychotic dosage equivalence estimates were determined by the classical mean dose method (doses equivalent to 1 mg/d olanzapine). We used multiple regression analyses to describe the relationship between NSS, EPMS and antipsychotic medication. In line with our expectations, current antipsychotic dosage had no significant effects on NSS total score (p = 0.27), abnormal involuntary movements (p = 0.17), akathisia (p = 0.32) and parkinsonism (p = 0.26). Further, NSS total score had a significant effect on akathisia (p = 0.003) and parkinsonism (p = 0.0001, Bonferroni corr.), but only marginal effect on abnormal involuntary movements (p = 0.08). Our results support the notion that NSS are not significantly modulated by current antipsychotic dosage in SSD. The associations between NSS, akathisia and parkinsonism, as revealed by this study, support the genuine rather than medication-dependent origin of particular motor abnormalities in SSD. (C) 2019 Elsevier B.V. and ECNP. All rights reserved.

关键词： ischemic stroke   alteplase   randomised trial   computed tomography perfusion imaging   penumbral mismatch   thrombolysis   thrombolytic therapy   time window   wake-up stroke  

摘要： Background EXtending the time for Thrombolysis in Emergency Neurological Deficits (EXTEND) is a randomized, multicenter, double-blinded, placebo-controlled phase 3 trial to test the hypothesis of extending the thrombolysis time window to 9 h from stroke onset and in wake-up stroke (WUS) patients. Objective To formulate the detailed statistical analysis plan for the EXTEND trial prior to database lock. This statistical analysis plan is based on the published and registered EXTEND trial protocol and is developed by the blinded steering committee and management team. Results The developed EXTEND statistical analysis plan is transparent, verifiable, and predetermined before the database lock. It is consistent with reporting standards for clinical trials and provides for clear and open reporting. Conclusions Publication of a statistical analysis plan serves to reduce potential trial analysis and reporting bias and outlines pre-specified analyses to quantify the benefits and harms of extending the thrombolysis time window to 9 h from stroke onset and in wake-up stroke patients. Trial registration: *** number NCT00887328 registered 23/Apr/2009 and NCT01580839 (EXTEND International) registered 19/Apr/2012

关键词： ataxia   cerebellar ataxia   cerebellum   diagnostic testing   exome   gait disorders   genetics   genomics   neurogenetics   spastic paraparesis   spastic paraplegia   spinocerebellar ataxia  

摘要： Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this method remains ill-defined, hindering efforts to address the remaining diagnostic gap. To further assess the role of rare coding variation in ataxic disorders, we reanalyzed our previously published exome cohort of 76 predominantly adult and sporadic-onset patients, expanded the total number of cases to 260, and introduced analyses for copy number variation and repeat expansion in a representative subset. For new cases (n = 184), our resulting clinically relevant detection rate remained stable at 47% with 24% classified as pathogenic. Reanalysis of the previously sequenced 76 patients modestly improved the pathogenic rate by 7%. For the combined cohort (n = 260), the total observed clinical detection rate was 52% with 25% classified as pathogenic. Published studies of similar neurological phenotypes report comparable rates. This consistency across multiple cohorts suggests that, despite continued technical and analytical advancements, an approximately 50% diagnostic rate marks a relative ceiling for current WES-based methods and a more comprehensive genome-wide assessment is needed to identify the missing causative genetic etiologies for cerebellar ataxia and related neurodegenerative diseases.

关键词： Neuron-specific enolase   Cardiac arrest   Neurological prognosis   Targeted temperature management  

摘要： Introduction and objectives: To analyze neuron-specific enolase (NSE) kinetics as a prognostic biomarker of neurological outcome in cardiac arrest survivors treated with targeted temperature management. Methods: We performed a retrospective analysis of patients resuscitated from in- or out-of-hospital cardiac arrest admitted from September 2006 to May 2018 in a single tertiary care center and cooled to 32 degrees C to 34 degrees C for 24 hours. Blood samples for measurement of NSE values were drawn at hospital admission and at 24, 48, and 72 hours after return of spontaneous circulation (ROSC). Neurological outcome was evaluated by means of the Cerebral Performance Category (CPC) score at 3 months and was characterized as good (CPC 1-2) or poor (CPC 3-5). Results: Of 451 patients, 320 fulfilled the inclusion criteria and were analyzed (80.3% male, mean age 61 +/- 14.1 years). Among these, 174 patients (54.4%) survived with good neurological status. Poor outcome patients had higher median NSE values at hospital admission and at 24, 48 and 72 hours after ROSC. At 48 and 72 hours after ROSC, NSE predicted poor neurological outcome with areas under the receiver-operating characteristic curves of 0.85 (95%CI, 0.81-0.90) and 0.88 (95%CI, 0.83-0.93), respectively. In addition, delta NSE values between 72 hours after ROSC and hospital admission predicted poor neurological outcome with an area under the receiver-operating characteristic curve of 0.90 (95%CI, 0.85-0.95) and was an independent predictor of unfavorable outcome on multivariate analysis (P < .001). Conclusions: In cardiac arrest survivors treated with targeted temperature management, delta NSE values between 72 hours after ROSC and hospital admission strongly predicted poor neurological outcome. (C) 2019 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.

关键词： biomarkers   cardiac arrest   mass spectrometry   plasma   prognostication   proteomics  

摘要： Neurological Prognostication After Cardiac Arrest: Can Novel Biomarkers Improve the Clarity of Our Crystal Ball? In the discovery phase of the study by Distelmaier et al ([3]), laser-capture mass spectrometry was used to identify candidate biomarkers in 10 patients with good ( I n i = 5) or poor ( I n i = 5) neurologic recovery. This point is relevant to the work by Distelmaier et al ([3]), as they would have assessed this theoretical patients' proteomic biomarker profile in the 'poor outcome' group, but the patient actually had a favorable neurologic recovery. [Extracted from the article]

关键词： Cerebral palsy   Malnutrition   Pressure ulcer   Pneumonia   Mid-upper arm circumference   Vitamin D deficiency  

摘要： Background and aims: Malnutrition is common in neurologically impaired (NI) children. It is, however, ill-defined and under-diagnosed. If not recognized and treated, it increases the burden of comorbidities and affects the quality of life of these children. The aim of this study was to characterize the nutritional status of a cohort of children followed up at a reference center for cerebral palsy (CP) in Brussels, Belgium, and to investigate possible links with the occurrence of comorbidities. Material and methods: We conducted a single-center retrospective study including all the children followed up at the Inter-university Reference Center for Cerebral Palsy ULB-VUB-ULg. The data were obtained by reviewing medical files. Anthropometric measurements as well as the etiology of neurological impairment, comorbidities, feeding patterns, and laboratory test results were collected. The children were assigned a nutritional diagnosis according to the World Health Organization and Waterlow definitions. Results: A total of 260 children with cerebral palsy were included, 148 males and 112 females. Their mean age was 10.9 +/- 4.3 years. The gross motor function classification system (GMFCS) level was I for 79 children, II for 63 children, III for 35 children, IV for 33 children, and V for 50 children. Of the children, 54% had a normal nutritional status, 34% showed malnutrition, and 8% were obese;38% had oropharyngeal dysphagia. The sensitivity of mean upper arm circumference of < p10 to detect severe malnutrition was 95%. Specific growth charts for CP were neither sensitive nor specific for predicting the risk of comorbidities. Malnutrition was associated with an increased risk of comorbidities (relative risk of 2.4 [1.7;3.4]). It was also associated with the occurrence of pneumonia, pressure ulcers, and pathological bone fracture. Discussion and conclusion: Children who are NI should be systematically and thoroughly screened for malnutrition, in the hope of offering early nu

关键词： Methodology research   quality   specialization   workforce organization  

摘要： Objective: Differentiate high- versus low-volume radiologists who interpret neurological (Neuro) MRI or musculoskeletal (MSK) MRI and measure the proportion of Neuro and MSK MRIs read by low-volume radiologists. Methods: We queried the 2015 Medicare Physician and Other Supplier Public Use File for radiologists who submitted claims for Neuro or MSK MRIs. Radiologists were classified as high-volume versus low-volume based on their work relative value units (wRVUs) focus or volume of studies interpreted using three different methodologies: Method 1, percentage of wRVUs in Neuro or MSK MRI;Method 2, absolute number of Neuro or MSK MRIs interpreted;and Method 3, both percentage and absolute number. Multiple thresholds with each methodology were tested, and the percentage of. Neuro or MSK MRIs interpreted by low-volume radiologists was calculated for each threshold. Results: With Method 1, 33% of Neuro MRI and 50% of MSK MRI studies were interpreted by a radiologist whose wRVUs in Neuro or MSK MRI were less than 20% (Method 1). With Method 2, 22% of Neuro MRIs and 37% of MSK MRIs were interpreted by radiologists who read fewer than the mean number of Neuro or MSK MRIs interpreted by an "average full-time radiologist" whose wRVUs in Neuro or MSK MRI were approximately 20%. With Method 3, 38% of Neuro MRIs and 57% of MSK MRIs were interpreted by "low-volume" radiologists. If instead a 50% wRVU threshold is used for Methods One, Two, and Three, then 70%, 58%, and 77% of Neuro MRIs and 86%, 80%, and 90% of MSK MRIs are read by low-volume radiologists. Discussion: A large number of radiologists read a low volume of Neuro or MSK MRIs;these low-volume Neuro or MSK MRI radiologists read a substantial portion of Neuro or MSK MRIs. It is unknown which of the methods for distinguishing low-volume radiologists;combined with which threshold, may best correlate with high-performing or low-performing radiologists. Copyright (C) 2019 American College of Radiology

关键词： Anti-SOX1antibody   Lambert-Eaton myasthenic syndrome   paraneoplastic neurological syndromes   small cell lung cancer  

摘要： Paraneoplastic neurological syndromes (PNS) are rare disorders affecting any part of the central, peripheral or autonomic nervous system that occur in association with cancer. Among cancer patients, less than 1% overall develop PNS. Anti-SOX1 antibodies' positive paraneoplastic neurological disorders are rare and are usually associated with small cell lung cancer (SCLC). Here, we report a case of a 61-year-old male patient who presented with an unusual anti-SOX1 positive PNS. The right tibialis anterior showed noticeable low-amplitude motor unit potentials and high amplitude motor potentials in electrodiagnostic study, suggesting the presence of Lambert-Eaton myasthenic syndrome (LEMS). Typical MRI and PET-CT found a hyperintense lesion with contrast enhancement in the thorax in front of 5-6 centrum of vertebrae, and thoracoscopic biopsy revealed pathological findings for SCLC. The patient underwent several lines of chemotherapy and radiotherapy and survived for 15 months after the diagnosis of SCLC.

关键词： nervous system disorders   biological markers   brain