左乙拉西坦、丙戊酸钠、苯巴比妥预防大鼠反复热性惊厥疗效观察

目的：比较左乙拉西坦、丙戊酸钠、苯巴比妥对大鼠反复热性惊厥的预防作用的差异,指导临床选药。方法：60只Wistar大鼠,随机分为4组,分别每日灌服左乙拉西坦（200 mg/kg）、丙戊酸钠（250 mg/kg）、苯巴比妥（30 mg/kg）及生理盐水（8 mL/kg）。连续灌服5 d后,用热水浴（45℃）诱导热性惊厥,观察其热性惊厥潜伏期、惊厥持续时间、惊厥严重程度改变情况。结果：大鼠用药后,3个药物干预组惊厥潜伏期延长、惊厥持续时间缩短,惊厥严重程度也明显减轻,与对照组比较差异有统计学意义（P＜0.05或0.01）,其中苯巴比妥组惊厥持续时间最短,惊厥严重程度最轻;左乙拉西坦组与丙戊酸钠组差异无统计学意义。结论：左乙拉西坦与丙戊酸钠、苯巴比妥比较均能有效预防大鼠反复热性惊厥,其中苯巴比妥疗效较好,左乙拉西坦与丙戊酸钠疗效无差异。［中国当代儿科杂志,2010,12（7）：573-575］     

SCN9A基因突变引起阵发性剧痛症1例

对2019年3月广东三九脑科医院诊断的1例阵发性剧痛症(PEPD)患儿的临床资料进行回顾性分析。患儿,男,首次就诊年龄7月龄,出生后5个月开始反复出现四肢强直发作,伴面部发红或发绀,反复出现,按照癫痫予丙戊酸钠口服液及左乙拉西坦口服液治疗,效果不佳。视频脑电图检查提示,患儿强直发作时同步脑电图未见癫痫样放电,且患儿出现...     

左乙拉西坦的国产仿制药替换治疗儿童癫痫的疗效及安全性研究北大核心CSCD

目的评价左乙拉西坦的国产仿制药替换原研药进口左乙拉西坦治疗儿童癫痫的疗效及安全性。方法回顾性分析2019年5月至2020年12月在广东省人民医院住院或门诊接受左乙拉西坦的国产仿制药替换治疗的154例癫痫患儿的临床资料,分析比较左乙拉西坦的国产仿制药替换原研药治疗的效果及安全性。结果154例患儿基线期癫痫控制率为77.3%(119/154),替换治疗6个月后癫痫控制率达83.8%(129/154),差异有统计学意义(P<0.05)。基线期与替换治疗6个月后癫痫发作频率比较差异无统计学意义(P>0.05)。替换治疗后无效患儿出现难治性癫痫比例高于有效患儿(P<0.05)。替换治疗前,仅1例患儿(0.6%)出现嗜睡;替换治疗后,3例患儿(1.9%)观察到轻度药物不良反应,包括头晕、嗜睡、易激惹、脾气暴躁,与替换治疗前比较差异无统计学意义(P>0.05)。结论左乙拉西坦的国产仿制药替换原研药进口左乙拉西坦治疗儿童癫痫是安全有效的,值得推广,但是需要更多的前瞻性随机对照试验来证实。     

良性癫痫伴中央颞区棘波变异型的临床特点及治疗策略

目的 探讨儿童良性癫痫伴中央颞区棘波(BECT)变异型的临床特点及治疗策略.方法 回顾分析2010年1月至2015年1月就诊于本院的15例BECT变异型患儿的临床资料.结果 15例BECT变异型患儿的起病年龄中位数为5岁7个月(1岁1个月~10岁);病程9个月~7年.87.0%(13/15例)患儿符合BECT变异型Ⅰ型的临床表现.88.0%(10/12例)随访儿童存在一定程度的学习障碍,所有患儿脑电图均显示一侧或双侧中央、顶区和(或)中、后颞区(Rolandic区)散在的棘慢波或棘波发放,睡眠后明显增多.33%(5/15例)患儿合并不典型失神,47%(7/15例)患儿清醒期可监测到负性肌阵挛的发作,同期可明确发现相应的脑电图改变.丙戊酸钠加用左乙拉西坦、丙戊酸钠加用氯硝西泮和丙戊酸钠加用左乙拉西坦及氯硝西泮为较为常用的抗癫痫药物组合.对于口服抗癫痫药物无效的患儿可予甲泼尼龙冲击治疗.结论 BECT变异型均伴有明显的脑电图恶化,认识其临床和脑电图变化的特点及规律,可提高对BECT变异型的诊断.抗癫痫药物目的不仅是控制临床发作,更重要的是减少脑电图的异常放电.     

左乙拉西坦对儿童良性癫(癎)伴中央颞区棘波伴睡眠中癫(癎)性电持续状态疗效观察

目的 探讨左乙拉西坦对儿童良性癫(癎)伴中央颞区棘波(benign childhood epilepsy with centro-temporal spikes,BECT)伴睡眠中癫(癎)性电持续状态(electrical status epilepticus during sleep, ESES)的疗效.方法 将2010年6月至2013年6月在我院癫(癎)门诊和住院就诊的35例BECT伴ESES患儿分为两组:ESES前期组和ESES组,分别用抗癫(癎)药左乙拉西坦治疗,观察左乙拉西坦对ESES前期和ESES患儿的癫(癎)发作频率、放电指数及神经心理的影响,通过比较治疗前后和不同时期疗效,探讨左乙拉西坦对ESES的预防作用和治疗作用.结果 ESES前期组患儿的临床控制率为55.00％,总有效率为85.00％,脑电图改善率60.00％;ESES组患儿的临床控制率为26.67％,总有效率为73.33％,脑电图改善率46.67％,但两组比较差异无统计学意义.左乙拉西坦治疗后患儿认知功能(语言智商:90.29±13.47;操作智商:93.83 ±11.12;总智商:94.26±10.96)和视觉注意力(反应控制商:100.77±7.91;注意商:94.66±7.22)较治疗前(语言智商:83.97±10.20;操作智商:87.03±11.15;总智商:86.71 ±11.29;反应控制商:87.40±9.68;注意商:79.46±12.52)明显改善,差异均有统计学意义(P均＜0.05).结论 左乙拉西坦可作为治疗BECT伴ESES和ESES前期的抗癫(癎)药物,且ESES前期治疗效果更佳,对ESES有一定预防作用.     

左乙拉西坦对癫患儿血清超敏C反应蛋白、S100B蛋白的影响

目的探讨左乙拉西坦对癫患儿血清超敏C反应蛋白(hs-CRP)、S100B蛋白的影响。方法 60例癫患儿随机分为对照组30例,观察组30例。对照组采用丙戊酸钠治疗,观察组采用左乙拉西坦治疗。于治疗前和治疗6个月测定患儿血清hs-CRP和S100B蛋白的表达。结果 2组临床疗效比较,观察组控制9例,显效18例,无效3例,总有效率为90.0%;对照组控制5例,显效17例,无效8例,总有效率为73.3%,2组比较差异有统计学意义(P<0.05)。观察组治疗后患儿血清hs-CRP和S100B蛋白分别为(1.38±0.61)mg.L-1和(0.516±0.204)μg.L-1,对照组治疗后分别为(2.96±1.42)mg.L-1和(0.674±0.216)μg.L-1,2组均较治疗前下降,且观察组降低程度较对照组更明显(P<0.05)。结论左乙拉西坦可通过降低hs-CRP和S100B蛋白的表达,减轻癫患儿炎性反应,从而减轻脑损伤,效果优于丙戊酸钠。     

儿童Jeavons综合征4例报告

目的探讨儿童Jeavons综合征的临床、脑电图特征及药物治疗效果。方法回顾性分析4例儿童Jeavons综合征患儿的临床、脑电图特征及治疗效果等临床资料。结果 4例患儿中女性3例、男性1例,起病年龄1~6岁。临床表现为反复特征性眼睑肌阵挛,伴或不伴失神发作。视频脑电图(VEEG)监测发作期脑电图,2例为全导对称同步3~6 Hz棘慢波或多棘慢波阵发,以闭眼诱发明显;2例为全导3.0~3.5 Hzδ节律发放。采用丙戊酸治疗2例、左乙拉西坦1例、丙戊酸联合左乙拉西坦1例。结果发作控制1例,发作减轻2例,发作仍频繁1例。结论 Jeavons综合征是一种特发性全面性癫综合征,发作主要为眼睑肌阵挛伴或不伴失神。VEEG对明确诊断有重要价值,丙戊酸钠或左乙拉西坦对控制发作有效。     

SCN8A基因突变相关癫痫性脑病2例报告并文献复习

目的探讨SCN8A基因突变相关癫痫性脑病的临床特点和诊治。方法回顾分析2例确诊SCN8A基因突变相关癫痫性脑病患儿的临床资料,并复习相关文献。结果 2例患儿均为男性,均以抽搐起病,同时伴有精神运动发育落后;经基因检测均证实有SCN8A基因突变。例1患儿生后3.5个月起病后,因左乙拉西坦治疗致发作增加而改用妥泰和中药,但抽搐控制不理想;2岁9个月时抽搐频繁,同时伴有严重的语言和运动发育倒退及吞咽功能差;加用拉莫三嗪口服后发作停止,吞咽功能,以及运动和语言恢复至抽搐频繁发作前水平。例2生后2个月起病后,服用妥泰发作减少,但未完全控制;后突然抽搐频繁,同时因在夏季出汗减少和体温增高,逐渐停用妥泰换用左乙拉西坦,但发作次数有增多趋势;遂停用左乙拉西坦换用丙戊酸钠,抽搐发作减少;联合应用奥卡西平后发作完全控制,随访2年半未再发作;例2患儿自出生至今全面发育落后、吞咽功能差。结论 SCN8A基因突变所致癫痫起病年龄早,常合并智力障碍/发育迟缓,同时伴有语言落后,发作严重时出现吞咽功能异常;对钠离子通道阻滞剂反应较好。     

奥卡西平联合左乙拉西坦治疗对癫痫患儿脑电图及血清S-100β蛋白、胶质纤维酸性蛋白水平的影响北大核心CSCD

目的探讨奥卡西平联合左乙拉西坦治疗对癫痫患儿脑电图及血清S-100β蛋白、胶质纤维酸性蛋白（GFAP）水平的影响。方法选取2016年3月至2017年5月驻马店市中心医院收治的110例癫痫患儿作为研究对象,采用随机数字表法分为联合组55例（奥卡西平联合左乙拉西坦治疗）和对照组55例（仅予奥卡西平治疗）。对比2组患儿治疗后的临床效果、脑电图背景活动情况、血清S-100β、GFAP水平变化。结果联合组控制率为69.09%,显效率为18.18%,有效率为9.09%,无效率为3.64%;对照组控制率为52.73%,显效率为20.00%,有效率为20.00%,无效率为7.27%,2组比较差异有统计学意义（Z＝－2.012,P＝0.044）。治疗前及治疗后2组患儿的脑电背景活动均以α波活动为主,2组患儿的α波、θ波及δ波活动率比较差异均无统计学意义（均P〉0.05）。治疗前,2组患儿血清S-100β、GFAP水平比较差异均无统计学意义（均P〉0.05）;治疗后,联合组和对照组血清S-100β[（0.415±0.086） μg/L、（0.473±0.091） μg/L]、GFAP[（2.60±0.44） ng/L、（2.93±0.40） ng/L]均较治疗前显著降低,差异均有统计学意义（t＝6.339、6.703、3.001、3.364,均P〈0.05）;治疗后,联合组血清S-100β、GFAP水平均显著低于对照组,差异均有统计学意义（t＝3.435、4.116,均P〈0.05）。结论奥卡西平联合左乙拉西坦治疗癫痫患儿的效果优于单用奥卡西平,可降低血清S-100β、GFAP水平,值得临床应用。     

左乙拉西坦治疗儿童癫癎的系统评价

目的：左乙拉西坦已经广泛应用于儿童癫癎的治疗中,但尚无高质量证据证明其安全性和有效性。本研究系统评价左乙拉西坦治疗儿童癫癎的有效性和安全性。方法：计算机检索Pubmed、 Embase、Cochrane数据库和中国生物医学文献光盘数据库、万方和维普中文数据库,检索时间截止2009年3月。纳入左乙拉西坦治疗儿童癫癎的随机和半随机试验,用meta分析方法对数据进行处理和系统评价。结果：纳入2个随机对照试验。一篇为左乙拉西坦（n=101）与安慰剂对照（n=91）添加治疗儿童难治性癫癎的多中心随机双盲试验,共198名患儿,左乙拉西坦和安慰剂发作完全缓解率分别为6.9%,1%（P<0.01）。与安慰剂组比较,左乙拉西坦治疗明显减少了癫癎发作频率（P<0.01）。另一篇为左乙拉西坦（n=21）与奥卡西平（n=18）单药治疗儿童中央颞区棘波癫癎随机对照试验。共39名患儿。左乙拉西坦和奥卡西平两组发作完全缓解率分别为90.5%,72.2%（P=0.410）。左乙拉西坦治疗相关副反应发生率与安慰剂组和奥卡西平两组差异无统计学意义。结论：目前证据表明,左乙拉西坦治疗儿童癫癎有效,但仍需更多实验数据支持。［中国当代儿科杂志,2010,12（2）：128-131］     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Overcoming surfactant inhibition with polymers

Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration.     

Understanding infant formula

The World Health organisation recommends breast feeding infants for the first six months of life. When this breast feeding does not occur either through parental choice or medical need, infant formulas will be required. There is a bewildering array of formulas on the UK market for many different requirements. When faced with an unsettled infant many parents (and healthcare professionals) will experiment with the infant formula available and then attend the paediatric clinic looking for help and advice. It is therefore essential that paediatricians understand what milks are available and what the key differences between different products are. This review attempts to provide a simple guide through many of the formulations currently available in the UK; and offers advice for the dietary management of the child with extra calorie requirements, infants with cow's milk protein allergy, gastro oesophageal reflux disease, apparent unresolved hunger and infantile colic. Whatever the underlying condition, there is likely to be an infant formula that is suitable in this generation of ever expanding formulations.