Analysis of Smooth Cepstral Peak Prominence in Hypokinetic Dysarthria Associated With Parkinson’s Disease

Smoothed cepstral peak prominence(CPPs)is a measurement of the distance from the prominent cepstral peak to the linear regression line directly beneath it.Variations of CPPs data acquisition and analysis lead to the complexity of the clinical cut-off values,and there are no agreeable values for a specific voice disorder,such as hypokinetic dysarthria associated with Parkinson’s disease(PD).This study examined the CPPs in people with hypokinetic dysarthria associated with PD compared with healthy participants.Results demonstrated significant differences in speech tasks of sustained vowel and connected speech,with CPPs of connected speech more sensitive to dysphonia and gender difference in PD participants.Males in PD participants presented higher CPPs for sustained vowels and lower CPPs for connected speech than females.It is implied that a consistent clinical application protocol is necessary,and multiple acoustic measures are needed to ensure the accuracy of clinical decisions.

Vanishing cerebral vasculitis in a patient with Lewy pathology

Immune-mediated mechanisms are involved in the pathogenesis of both cerebral vasculitis and Parkinson’s disease（PD, brainstem-predominant Lewy pathology）, but the presentation of cerebral vasculitis with comorbid Lewy pathology has not yet been reported. Here we present a case of pathologically confirmed vasculitis in a 73-year-old male patient whose postmortem examination revealed Lewy pathology diagnostic of PD. This case study suggests a comorbidity of cerebral vasculitis and Lewy pathology, as well as potential pathogenic interactions between these two disorders with immune-mediated mechanisms.

脑叶酸缺乏综合征患者体内抗叶酸受体自身抗体的研究

In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MT HF) levels in the cerebrospinal fluid are low, but folate levels in the serum an d erythrocytes are normal. We examined serum specimens from 28 children with cer ebral folate deficiency, 5 of their mothers, 28 age-matched control subjects, a nd 41 patients with an unrelated neurologic disorder. Serum from 25 of the 28 pa tients and 0 of 28 control subjects contained highaffinity blocking autoantibodi es against membrane-bound folate receptors that are present on the choroid plex us. Oral folinic acid normalized 5MTHF levels in the cerebrospinal fluid and led to clinical improvement. Cerebral folate deficiency is a disorder in which auto antibodies can prevent the transfer of folate from the plasma to the cerebrospinal fluid.

培养氧化磷酸化缺陷患者皮肤成纤维细胞进行免疫染色的诊断学价值

In the last decades,a large variety of oxidative phosphorylation (OXPHOS) defects have been reported,expressed as an increasing variety of clinical phenotypes. With the expanding number of genes and proteins involved,new screening techniques leading to more effective diagnostic routes are in ever-increasing demand. Cultured skin fibroblasts from a cohort of patients with various OXPHOS defects,previously recognized by enzyme activity studies and blue native PAGE,were investigated with an immunocytochemical technique. Cytospins of cultured fibroblasts were air dried,fixed,and stained with antibodies specifically directed against subunits of each OXPHOS complex. Control cells stained homogeneously and strongly. In fibroblasts from five out of seven patients with a severe deficiency of one of the OXPHOS complexes,a homogeneous reduction of cytoimmunore activity of the affected complex was observed. In five out of seven fibroblast strains harboring a mitochondrial tRNA mutation,a mosaic pattern of staining was observed for both complexes I and IV,reflecting the heteroplasmic nature of the defect. The proportion of deficient fibroblasts varied considerably between cell strains from different subjects. The method described offers a convenient and rapid approach to first-line screening of OXPHOS defects. In association with routine assays of enzyme activity,the technique is helpful in orienting molecular investigation further.

胎龄为25～30周的新生儿的睡眠周期特点研究

Previous sleep studies of preterm neonates describe the rudimentary expression of sleep state cyclicity after 30 wk postconceptional age (PCA), with stability over multiple cycles only after 36 wk PCA. The research objective for this study was to determine whether sleep state cyclicity was expressed in neonates of 25-30 wk PCA, using two criteria for state identification. Our neonatal sleep consortium includes a total cohort of 359 children who were healthy and medically ill neonates who were recruited from three obstetric-neonatal services and received multiple-hour EEG sleep studies. A subset of the 33 youngest preterm infants were selected to evaluate the first of serial 2-to 3-h EEG-sleep recordings to assess the presence of sleep state cyclicity. One neonatal neurophysiologist visually assigned EEG-sleep characteristics for each record. Rapid eye movement (REM) counts and EEG discontinuity were specifi-cally chosen to assess whether sleep cyclicity was expressed. A combined measure of REM and EEG discontinuity were used in an autocovariance analysis to assess cycling and mean cycle duration. A mean cycle duration of 68 ± 19 min with a range of 37-100 min was determined from the REM-EEG discontinuity state for 24 neonates. The remaining nine infants had absent or poor sleep cyclicity. Sleep state cyclicity is expressed for a majority of neonates between 25 and 30 wk PCA, reflecting an ultradian biologic rhythm during the early perinatal stage of brain development.

磁源成像定位结节性硬化症患儿的致痫区

The authors assessed whether magnetoencephalography/magnetic source imaging (MEG/MSI) identified epileptogenic zones in patients with tuberous sclerosis complex (TSC). In six TSC children with focal seizures, ictal video-EEG predicted the region of resection with 56%sensitivity, 80%specificity, and 77%accuracy (p = 0.02), whereas interictal MEG/MSI fared better (100%, 94%, and 95%, respectively; p < 0.0001). Interictal MEG/MSI seems to identify epileptogenic zones more accurately in children with TSC and focal intractable epilepsy.

脊柱裂和ChiariⅡ型畸形患儿快速动眼的研究

Background: Saccades are essential for optimal visual function. Chiari type I I malformation (CII) is a congenital anomaly of the cerebellum and brainstem, as sociated with spina bifida. Objective: To investigate the effects of CII on sacc ades and correlate saccadic parameters with brain MRI measurements. Methods: Sac cades were recorded in 21 participants with CII, aged 8 to 19, using an infrared eye tracker. Thirty- nine typically developing children served as controls. Pa rticipants made saccades to horizontal and vertical target steps. Nineteen parti cipants with CII had MRI. Regression analyses were used to investigate the effec ts of spinal lesion level, number of shunt revisions, presence of nystagmus, and midsagittal MRI measurements on saccades. Results: Saccadic amplitude gains, as ymptotic peak velocities, and latencies did not differ between the control and C II groups (p > 0.01). No significant differences were found between saccadic gai ns, asymptotic peak velocities or latencies, and spinal lesion level, number of shunt revisions, presence of nystagmus, or MRI measurements. Conclusions: Saccad es were normal in most participants with Chiari Ⅱ malformation (CII). Neural c oding of saccades is robust and is typically not affected by the anatomic deform ity of CII.

Recent aspects of ketogenic diet in neurological disorders

The ketogenic diet(KD)is a high-fat,low-carbohydrate diet,in which fat is used as the primary energy source through the production of ketone bodies(KBs)in place of glucose.The KD was formally introduced in 1921 to mimic the biochemical changes associated with fasting and gained recognition as a potent treatment for pediatric epilepsy in the mid-1990s.The clinical and basic scientific knowledge that supports the anti-seizure efficacy,safety,and feasibility of using the KD in patients with epilepsy is huge.Additionally,the International Ketogenic Diet Study Group’s consensus guidelines provide practical information in 2009 and 2018.The KD is a broad-spectrum therapy for drug resistant epilepsy and is gaining attention as a potential therapy for other neurological disorders.This article will review recent aspects on the use of the KD,including its mechanisms of action,KD alternatives,expanding its use across different age groups and regions,its use as a treatment for other neurologic disorders,and future research subjects.

Towards creation of national cerebral palsy registries in Arab countries:what is missing?

Cerebral palsy(CP)is a global,complex and lifelong health issue with a relatively high disease burden in low-resource countries.The benefits of a national disease registry in general and a national CP registry in particular are twofold,namely the public health and the clinical disease-related benefits.A national CP quality registry has the potential to inform health planning and spending at national,regional and continental levels.In turn,this can help allocate and manage the relevant material and human resources in a more predictable and efficient manner.

A survey on pediatric anti-N-methyl-D-aspartate-receptor encephalitis treatment strategies in China

To the Editor:Currently,there is no standardized treatment protocol for the pediatric anti-N-methyl-D-aspartate receptor(NMDAR).There are two surveys by Kahn et al[1]and Bartolini et al[2]that aimed at determining the treatment strategies that are used for pediatric NMDAR encephalitis in other parts of the world rather than China.Bartolini et al[2]performed a worldwide survey involving 199 participants:61 adult neurologists,86 pediatric neurologists,and 52 pediatric rheumatologists.Their survey investigated the differences in anti-NMDAR encephalitis treatment strategies,according to medical specialty,years in practice,and geographical location.[2]The survey of Kahn et al[1]involved 151 pediatric neurologists and focused on identifying the indications for the initiation of immunotherapy,type of the used immunotherapy,length of the first-line immunotherapy,time for the initiation of the second-line immunotherapy,and the preferable options for the second-line immunotherapy.Additionally,they investigated the indications and time for adding a disease-modifying therapy,and how long should patients continue with the immunotherapy once returned to their neurologic baseline.[1]Both surveys did not sufficiently focus on identifying the utility of the modified Rankin Scale(mRS),dosages and duration of the treatments(including the duration of oral prednisone),the utility of Cluster of Differentiation 19 positive(CD19+)B cells in adjusting the dosages of rituximab,the necessity of long-term immunosuppressive treatment(for relapse prevention),and the indications for stopping the immunotherapy.

Prominent myalgia-an important clue in the diagnosis of a muscle disorder

Adevelopmentally normal,15-year-old boy presented with complaint of gait abnormalities since 8 years of age.The child complained of difficulty in climbing stairs and running.He could not climb stairs without the support of railing.There was no problem with rising from sitting or lying down position.

Analysis of human brain tissue derived from DBS surgery

Background:Transcriptomic and proteomic profiling of human brain tissue is hindered by the availability of fresh samples from living patients.Postmortem samples usually represent the advanced disease stage of the patient.Fur-thermore,the postmortem interval can affect the transcriptomic and proteomic profiles.Therefore,fresh brain tissue samples from living patients represent a valuable resource of metabolically intact tissue.Implantation of deep brain stimulation(DBS)electrodes into the human brain is a neurosurgical treatment for,e.g.,movement disorders.Here,we describe an improved approach to collecting brain tissues from surgical instruments used in implantation of DBS device for transcriptomics and proteomics analyses.Methods:Samples were extracted from guide tubes and recording electrodes used in routine DBS implantation procedure to treat patients with Parkinson’s disease,genetic dystonia and tremor.RNA sequencing was performed in tissues extracted from the recording microelectrodes and liquid chromatography-mass spectrometry(LC-MS)per-formed in tissues from guide tubes.To assess the performance of the current approach,the obtained datasets were compared with previously published datasets representing brain tissues.Results:Altogether,32,034 RNA transcripts representing the unique Ensembl gene identifiers were detected from eight samples representing both hemispheres of four patients.By using LC-MS,we identified 734 unique proteins from 31 samples collected from 14 patients.The datasets are available in the BioStudies database(accession number S-BSST667).Our results indicate that surgical instruments used in DBS installation retain brain material sufficient for protein and gene expression studies.Comparison with previously published datasets obtained with similar approach proved the robustness and reproducibility of the protocol.Conclusions:The instruments used during routine DBS surgery are a useful source for obtaining fresh brain tis-sues from living patients.This approach overcomes the issues that arise from using postmortem tissues,such as the effect of postmortem interval on transcriptomic and proteomic landscape of the brain,and can be used for studying molecular aspects of DBS-treatable diseases.

Is Autonomic Nervous System Involved in the Epileptogenesis in Preterm Neonates?

Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures;occurring during their ictal,interictal,or postictal states.International League Against Epilepsy Seizure Classification Manual defines autonomic seizures as a distinct alteration of autonomic nervous system function involving cardiovascular,pupillary,gastrointestinal,sudomotor,vasomotor,and thermoregulatory functions.Autonomic seizures represent a great challenge for neonatologists and neurophysiologists;and distinguishing between ictal and non-ictal autonomic changes in neonates is rarely straightforward,especially in the premature ones.To avoid overdiagnosis and overtreatment,International League Against Epilepsy and the American Clinical Neurophysiology Society currently require electrographic correlation for any seizure diagnosis,including preterm neonates.There is very little scientific evidence about the pathophysiology of autonomic seizures.The data reporting on their incidence,clinical features,and diagnostic pathway is also insufficient.In this paper,we hypothesize that in the developing brain of preterm neonates,seizures involving deeper autonomic networks and subcortical structures might not propagate sufficiently to the cortex,and therefore the association of the seizures with specific ictal electrographic changes on surface electroencephalogram might be lacking.We propose considering autonomic seizures in the differential diagnosis of unexplained autonomic changes in neonates,especially preterm neonates,even in the absence of clear initial electrographic correlation.Unexplained autonomic changes could therefore be thought of as a“seizure alarm”in this population.

新生儿的非癎样运动(摘译)

新生儿易出现各种非癎样运动如颤动、惊跳和良性新生儿睡眠性肌阵挛。而其他的异常运动如新生儿惊跳病就较为少见。然而这些运动的大多数预后良好,不会影响新生儿远期的神经发育。但临床医生对新生儿出现的一些惊跳现象仍需高度警惕,需与病理性惊跳鉴别，必要时行特殊的检查和治疗。