注意缺陷多动障碍儿童执行功能的评估与干预

ADHD儿童认知障碍的主要特征之一是执行功能损害,涉及包括前额叶皮层在内的特定脑区域及多层级脑网络异常。执行功能按照功能性分为冷-热两方面:冷执行功能损害主要表现于反应抑制、工作记忆以及认知灵活性等;热执行功能损害通常涉及延迟满足、赏罚相关决策、自我调节及情绪调节等。ADHD儿童的执行功能评估应基于可信范式进行文化适应性调整。临床干预不能单一聚焦于冷执行功能,需关注儿童的身体发育以及热执行功能(情绪社会方面)的发展进程,结合其他共病与心理状况,进行全面的动态随访与干预,以达到最佳的长期疗效。     

Non-alcoholic fatty liver disease and neurological defects

Introduction and ObjectivesNonalcoholic fatty liver disease (NAFLD) can be considered one of the most common causes of liver disease in our days and is regarded as one of the newest vascular risk factors for cerebrovascular and other neurological diseases.Materials and methodsWe studied a group of neurological outpatients, divided into two homogenous groups based on the presence or absence of NAFLD.Results and conclusionsWe testified an independent relationship between NAFLD and common vascular risk factors (age, sex, educational level, BMI, cholesterol and lipid assessment, Hb1ac). At the same time, we ascertained an independent relationship between NAFLD and more recently recognized vascular risk factors, such as lack of folate, vitamin B12 and vitamin D-OH25, and increased levels of homocysteine. Finally, we have documented that NAFLD showed worse executive and frontal functions, and behavioral changes, such as depressive mood and anxiety, and apathy.     

Electrophysiological differences between upper and lower limb movements in the human subthalamic nucleus

ObjectiveFunctional processes in the brain are segregated in both the spatial and spectral domain. Motivated by findings reported at the cortical level in healthy participants we test the hypothesis in the basal ganglia of Parkinson’s disease patients that lower frequency beta band activity relates to motor circuits associated with the upper limb and higher beta frequencies with lower limb movements.MethodsWe recorded local field potentials (LFPs) from the subthalamic nucleus using segmented “directional” DBS leads, during which patients performed repetitive upper and lower limb movements. Movement-related spectral changes in the beta and gamma frequency-ranges and their spatial distributions were compared between limbs.ResultsWe found that the beta desynchronization during leg movements is characterised by a strikingly greater involvement of higher beta frequencies (24–31 Hz), regardless of whether this was contralateral or ipsilateral to the limb moved. The spatial distribution of limb-specific movement-related changes was evident at higher gamma frequencies.ConclusionLimb processing in the basal ganglia is differentially organised in the spectral and spatial domain and can be captured by directional DBS leads.SignificanceThese findings may help to refine the use of the subthalamic LFPs as a control signal for adaptive DBS and neuroprosthetic devices.     

康复治疗配合化痰祛瘀汤对脑梗死患者纤溶系统、神经功能及血液流变学的影响

目的:探究康复治疗配合化痰祛瘀汤对脑梗死患者纤溶系统、神经功能恢复及血液流变学的影响。方法:选取收治的150例脑梗死患者作为研究对象并分为2组,对照组75例行康复治疗,观察组75例在对照组基础上联合化痰祛瘀汤治疗。比较2组治疗效果及纤溶系统指标、神经功能缺损评分、血液流变学指标。结果:观察组总有效率高达93.33%,高于对照组的77.33%(P<0.05)。2组治疗后纤溶系统指标、神经功能评分及血液流变学指标均有所改善(P<0.05);治疗后组间比较,观察组纤溶酶原激活物(t-PA)及血小板聚集率(PAR)均高于对照组(P<0.05),组织纤溶酶原抑制物(PAI)、血浆黏度(PV)、全血黏度(WBV)均低于对照组(P<0.05)。结论:化痰祛瘀汤联合康复治疗有利于维持脑梗死患者纤溶系统动态平衡,促进神经功能恢复及改善血液流变学。     

1p31.1 microdeletion including only NEGR1 gene in two patients

Neuronal growth regulator 1 (NEGR1), a member of the immunoglobulin superfamily cell adhesion molecule subgroup IgLON, has been involved in neuronal growth and connectivity. Genetic variants, in or near the NEGR1 locus, have been associated with obesity and, more recently, with learning difficulties, intellectual disability, and psychiatric disorders.Here, we described the only second report of NEGR1 gene disruption in 1p31.1 microdeletion in two patients. Patient 1 is a 14-year-old female with neurological and psychiatric features present also in her family. Patient 2 is a 5-month-old infant showing global hypotonia as unique neurological features till now. This patient also carries 7p22.1 duplication, of paternal origin, that could be responsible for some malformations present in the child.We hypothesize a role of NEGR1 in producing the phenotype of our patients and compare them with other cases previously reported in the literature and DECIPHER database to better identify a possible genotype-phenotype correlation.     

Calidad del sueño y déficit de memoria en el envejecimiento sano

ObjectiveTo study the relationship between sleep quality and memory in healthy ageing.MethodsThe study included 99 people older than 50 years (69 women and 30 men; mean age, 68.74 ± 7.18 years) with no associated diseases. Patients completed digital versions of the Word Learning and Visual Paired Associates tests and the Pittsburgh Sleep Quality Index questionnaire to assess the quality of sleep.ResultsPittsburgh Sleep Quality Index score was negatively correlated with Visual Paired Associates and Word Learning test performance. Performance in these 2 memory tests decreased in line with sleep quality. In addition, performance in Visual Paired Associates test was negatively correlated with subjective sleep quality, duration, and sleep disturbances. Performance on the Word Learning test was negatively correlated with subjective sleep quality and efficiency. Participants’ sex showed a weak effect on Visual Paired Associates performance and sleep latency.ConclusionsMedical professionals working with elderly patients should take into consideration the effect of poor sleep quality on memory. Cognitive impairment in these patients may be a manifestation of a neuroendocrine imbalance due to a disrupted circadian rhythm. More research is needed to prove this hypothesis.     

Does perturbation in the mitochondrial protein folding pave the way for neurodegeneration diseases?

Mitochondria, which are cell compartments that are widely present in eukaryotic cells, have been shown to be involved in a variety of synthetic, metabolic, and signaling processes, thereby playing a vital role in cells. The mitochondrial unfolded protein response (mtUPR) is a response in which mitochondria reverse the signal to the nucleus and maintain mitochondrial protein homeostasis when unfolded and misfolded proteins continue to accumulate. Multiple neurodegeneration diseases, including Alzheimer's disease (AD), Parkinson’s disease (PD), and familial amyotrophic lateral sclerosis (fALS), are public health challenges. Every year, countless efforts are expended trying to clarify the pathogenesis and treatment of neurological disorders, which are associated with mitochondrial dysfunction to some extent. Numerous studies have shown that mtUPR is involved in and plays an important role in the pathogenesis of neurological disorders, but the exact mechanism of the disorders is still unclear. Further study of the process of mtUPR in neurological disorders can help us more accurately understand their pathogenesis in order to provide new therapeutic targets. In this paper, we briefly review mtUPR signaling in Caenorhabditis elegans (C. elegans) and mammals and summarize the role of mtUPR in neurodegeneration diseases, including AD, PD and fALS.     

活血通络汤治疗痰瘀阻络型缺血性脑卒中临床研究

目的:探讨活血通络汤治疗痰瘀阻络型缺血性脑卒中的临床疗效和安全性。方法:选取82例痰瘀阻络型缺血性卒中患者作为研究对象,按照其治疗方法分为对照组40例和观察组42例,对照组予以常规西药治疗,观察组患者在对照组治疗基础上予以活血通络汤治疗,两组患者均治疗2周,治疗结束后比较两组患者临床疗效、中医症候积分、神经功能、日常生活能力、血液流变学指标水平及不良反应。结果:经治疗2周后,观察组患者临床治疗总有效率为97.62%,显著高于对照组临床总有效率82.50%(P<0.05); 两组患者治疗前中医症候积分、NIHSS及BI评分比较,差异无统计学意义,治疗后两组患者中医症候积分和NIHSS评分均较治疗前下降,而BI评分显著上升,但治疗后观察组患者中医症候积分和NIHSS评分下降和BI评分上升程度均显著高于对照组患者(P<0.05); 两组患者治疗前全血高切黏度、全血低切黏度、纤维蛋白原及血浆黏度水平比较,差异无统计学意义,治疗后两组患者全血高切黏度、全血低切黏度、纤维蛋白原及血浆黏度水平均较治疗前明显下降,但治疗后观察组患者血液流变学指标水平均低于对照组患者,差异有统计学意义(P<0.05); 两组患者均未出现不良事件。结论:活血通络汤可提高痰瘀阻络型缺血性脑卒中患者临床疗效,改善其症状体征、神经功能及血液状态,提高日常活动能力。