新生儿缺氧缺血性脑病血清心肌酶活性的变化

目的：探讨新生儿缺氧缺血性脑病（ＨＩＥ）患儿血清心肌酶活性的变化及其临床意义。方法：对４２例ＨＩＥ患儿分设轻度组、中度组、重度组、分别于入院２４ｈ内及ｄ７检测其血清ＧＯＴ、ＣＫ、ＬＤＨ、α－ＨＢＤＨ的活性,并作对比分析。结果：ＨＩＥ患者血清ＧＯＴ、ＣＫ、ＬＤＨ、α－ＨＢＤＨ浓度均升高,且重度组高于中度组,中度组高于轻度组（Ｐ〈０．０５,Ｐ〈０．０１）,治疗后７ｄ且的心肌酶浓度均下降,轻至中度组已基     

氟乙酰胺中毒性脑病5例报告

观察了5例氯乙酰胺灭鼠药致中毒性脑病患者。均为自消化道摄入者,主要临床表现为精神症状、意识模糊及癫痫（强直一阵挛性发作）。头颅CT检查正常。治疗使用解毒剂已酰胺,辅以抗癫痫药物、抗精神药物及对症治疗,预后良好。     

APP17肽对糖尿病小鼠脑Tau蛋白的影响

应用免疫组化方法 ,观察对照组、糖尿病组和糖尿病APP1 7肽治疗组小鼠脑内Tau蛋白的分布 ,以探讨APP1 7肽对糖尿病小鼠脑神经元Tau蛋白表达的影响。结果 :用Tau 1单染 ,正常小鼠脑及APP1 7肽治疗的糖尿病小鼠脑压后颗粒皮质及海马阳性反应神经元数目多。糖尿病小鼠只有用蛋白磷酸酯酶 (PP 2B)脱磷酸后阳性反应神经元数目及染色程度才与正常组接近。提示 :糖尿病小鼠脑内正常Tau蛋白表达障碍 ,有过度磷酸化 ,而APP1 7肽可改善Tau蛋白过度磷酸化     

新生儿窒息与相关疾病心肌酶活性的变化

目的为了探讨新生儿窒息合并新生儿缺氧缺血性脑病(HIE)、新生儿颅内出血和新生儿肺炎时血清肌酸激酶及其同功酶(CK、CK-MB)、乳酸脱氢酶(LDH)、α-羟丁酸(α-HBDH)的活性变化及之间关系.方法新生儿窒息32例,其中合并新生儿肺炎15例,合并HIE、新生儿颅内出血17例,分别测定血清中CK、CK-MB、LDH、α-HBDH的活性,并做对比分析.结果两组间CK值合并HIE和新生儿颅内出血组高于合并新生儿肺炎组(P＜0.05),有显著差异,其它心肌酶无显著差异.结论心肌酶活性的增高与HIE、新生儿颅内出血疾病本身无直接关系,其活性增高可能是新生儿窒息的结果.有脑损伤史的患儿CK值增高可能是其同功酶CK-BB活性增高所致.     

负荷量苯巴比妥预防新生儿缺氧缺血性脑病及颅内出血

观察重度窒息儿静注苯巴比妥预防新生儿缺氧缺血性脑病及颅内出血的效果。方法：选择本院产科出生的重度窦息儿６０例为观察对象,随机分为用药组和对照组各３０例。用药组转入我科后即给予苯巴比妥钠荷量２０ｍｇ／ｋｇ,１２小时后给予维持量５ｍｇ／ｋｇ．ｄ,共７天。     

脑电图结合CT预测一氧化碳中毒迟发性脑病

探讨预测一氧化碳中毒迟发性脑病的检查方法,以及高压氧治疗时间与脑病的关系。方法用脑电地形图和头颅ＣＴ分析２９３例一氧化碳中毒不同程度、不同高压氧治疗时间与一氧化碳中毒迟发性脑病发生的关系。结果中重度中毒脑电地形图与轻度中毒异常率比较差异显。     

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

PurposeMissense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability.MethodsBy international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro.ResultsIn accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.ConclusionBy identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.     

Placental tissue stem cells and their role in neonatal diseases

Neonatal diseases such as hypoxic ischemic encephalopathy, diseases of prematurity and congenital disorders carry increased morbidity and mortality. Despite technological advancements, their incidence remains largely unabated. Stem cell (SC) interventions are novel therapies in the neonatal world. In pre-clinical models of neonatal diseases, SC applications have shown encouraging results. SC sources vary, with the bone marrow being the most utilized. However, the ability to harvest bone marrow SCs from neonates is limited. Placental-tissue derived SCs (PTSCs), provide an alternative and highly attractive source. Human placentas, the cornerstone of fetal survival, are abundant with such cells. Comparing to adult pools, PTSCs exhibit increased potency, decreased immunogenicity and stronger anti-inflammatory effects. Several types of PTSCs have been identified, with mesenchymal stem cells being the most utilized population. This review will focus on PTSCs and their pre-clinical and clinical applications in neonatology.     

The pathogenesis and modulation of the post-treatment reactive encephalopathy in a mouse model of Human African Trypanosomiasis

Drug treatment of late-stage human African Trypanosomiasis (HAT) in which the central nervous system (CNS) is involved may be complicated by a severe post-treatment reactive encephalopathy (PTRE) which can be fatal in up to 10% of cases. In order to understand the immunopathogenesis of this complication, an experimental mouse model has been developed that mirrors many of the pathological features of the PTRE in humans, and which allows various anti-inflammatory therapeutic regimes to be evaluated. Following the development of the PTRE in this model a number of cytokines are increased within the CNS including tumour necrosis factor (TNF) alpha, interleukins 1, 4 and 6, and macrophage inflammatory protein (MIP)-1. These cytokines appear at the same time as astrocyte activation which is an early event occurring before the development of the marked meningoencephalitic inflammatory response. The immunosuppressant drug azathioprine prevents but does not reduce the severity of an established PTRE and has a minimal effect on astrocyte activation. The ornithine decarboxylase inhibitor eflornithine prevents the induction, and ameliorates the severity, of the PTRE, and also reduces the degree of astrocyte activation. The Substance P antagonist RP-67,580 ameliorates the severity of an established PTRE, and also reduces astrocyte activation, indicating an important role of SP in the generation of the inflammatory response. Continued use of this mouse model should lead to further enhancement of our understanding of the pathogenesis of the PTRE and to improved drug regimes to prevent and/or treat it.     

简化门体性肝性脑病指数及其临床应用

目的：本文通过分析苯二氮　类受体抑制剂氟马西尼对临床型肝性脑病患者精神状况的改善情况和乳果糖对亚临床肝性脑病（ＳＨＥ）患者数字连接试验（ＮＣＴ）和脑诱发电位的改善作用,旨在探讨氟马西尼的中枢促清醒作用和乳果糖汁ＳＨＥ的疗效以及推广简化门体分流指数的应用。结果发现（１）氟马西尼治疗前后精神状况级别评分比较有显著性差异（ Ｐ＜０．０５）,临床有效率达１０／１２（８３．３％）,明显高于醒脑静组的２／１０（２０％）;（２）乳果糖治疗后,临床总有效率为９１．６７％（１／１２）,ＮＣＴ和脑诱发电位改善分别为８０％（８／１０）和６６．６７％（６／９）,治疗前后门体性肝性脑病指数（ＰＳＥ Ｉｎｄｅｘ）比较有显著性差异（Ｐ＜０．０５）。结果提示氟马西尼对肝性脑病有显著的促清醒作用,乳果糖对ＳＨＥ有显著的改善作用,简化ＰＳＥ　Ｉｎｄｅｘ可在临床推广使用。