生酮饮食治疗儿童难治性癫痫的疗效和不良反应

生酮饮食系一种高脂肪、低碳水化合物和适量蛋白质的特殊饮食,生酮饮食疗法是近年来治疗儿童难治性癫痫安全有效的重要措施,不但疗效确切,而且不良反应较少且多为一过性,一般预后良好。文章综述了生酮饮食治疗儿童难治性癫痫的有效率、依从性和不良反应及其产生原因。     

酮体在生酮饮食治疗癫痫中的研究进展

生酮饮食疗法是一种脂肪高比例、碳水化合物低比例、蛋白质和其他营养素合适的配方饮食,主要用于儿童难治性癫痫的治疗。生酮饮食疗法治疗期间体内的主要代谢变化是产生大量酮体,酮体不仅可以供能,而且对脑内异常兴奋信号传递的抑制起重要作用。但酮体在生酮饮食疗法抗癫痫作用的机制目前仍不十分清楚,部分临床研究发现血酮水平与癫痫控制效果不一致。现从生酮饮食疗法中酮体的合成、监测、有效浓度范围及其与疗效的关系等几个方面的最新研究进展进行综述,以期为临床开展生酮饮食时血酮水平的控制提供参考。     

生酮饮食治疗儿童难治性癫痫

儿童难治性癫痫(intractable/refractory epilepsy)是指经2种或2种以上抗癫痫药物正规治疗,仍不能完全控制发作的癫痫[1-2],也称为小儿药物难治性癫痫。生酮饮食(ketogenic diet,KD)是目前治疗儿童难治性癫痫的重要方法之一。KD是一种模拟禁食状态下代谢过程的高脂肪、     

钾离子通道KCNQ2基因突变相关性早发性癫痫脑病2例临床报道

目的探讨KCNQ2基因突变相关性早发性癫痫脑病患儿临床特征,以早期诊治,改善预后。方法收集2014年8月至2016年12月在华中科技大学同济医学院附属武汉儿童医院神经内科收治的早发性癫痫脑病患儿,筛选出KCNQ2基因突变阳性的患儿,并除外已知与早发性癫痫脑病发病相关的其他基因。结果共收集2例KCNQ2基因突变阳性,均为新发错义突变,均为男性,均为新生儿期起病。1例为大田原综合征,后期转变为婴儿痉挛症;1例为非综合征类早发性癫痫脑病。初期脑电图表现1例多量多灶性棘波、尖波、棘慢波发放,睡眠期增多;1例大量多灶性棘波、尖波、尖慢波发放。2例应用钠通道阻滞剂效果差,癫痫发作难以控制。其中1例患儿添加生酮饮食治疗有效,癫痫发作控制,但智力运动功能损害严重。结论 KCNQ2基因突变相关性早发性癫痫脑病,可在新生儿期起病,脑电图初期多表现为多灶性放电。生酮饮食添加治疗可能有效。     

钾离子通道KCNQ2基因突变相关性早发性癫痫脑病2例临床报道

目的　探讨KCNQ2基因突变相关性早发性癫痫脑病患儿临床特征，以早期诊治，改善预后。方法　收集2014年8月至 2016年12月在华中科技大学同济医学院附属武汉儿童医院神经内科收治的早发性癫痫脑病患儿，筛选出KCNQ2基因突变阳性的患儿，并除外已知与早发性癫痫脑病发病相关的其他基因。结果　共收集2例KCNQ2基因突变阳性，均为新发错义突变，均为男性，均为新生儿期起病。1例为大田原综合征，后期转变为婴儿痉挛症；1例为非综合征类早发性癫痫脑病。初期脑电图表现1例多量多灶性棘波、尖波、棘慢波发放，睡眠期增多；1例大量多灶性棘波、尖波、尖慢波发放。2例应用钠通道阻滞剂效果差，癫痫发作难以控制。其中1例患儿添加生酮饮食治疗有效，癫痫发作控制，但智力运动功能损害严重。结论　KCNQ2基因突变相关性早发性癫痫脑病，可在新生儿期起病，脑电图初期多表现为多灶性放电。生酮饮食添加治疗可能有效。     

生酮饮食在儿童癫痫治疗中的应用进展

用含脂肪比例高、蛋白质和碳水化合物比例低的饮食配方，通过脂肪分解代谢产生酮体模拟身体对饥饿的反应治疗癫痫等疾病，这种饮食治疗方法称为生酮饮食疗法。目前生酮饮食治疗癫痫的确切机制尚不清楚。有关生酮饮食治疗儿童难治性癫痫的疗效，系统分析显示无发作的病例达到15．6％（95％CI为10．4％-20．8％），33％（95％CI为24．3％-41．8％）病例获得发作减少50％以上的效果。且该方法不良反应少。因此成为儿童难治性癫痫治疗的主要方法之一。本文就生酮饮食的可能机制、高效、适应证及禁忌证等进行介绍。     

生酮饮食治疗儿童难治性癫痫的进展

儿童难治性癫痫是指经2种以上抗癫痫药物的正规治疗,发作仍不能完全控制的癫痫。而生酮饮食(KD)作为一种特殊饮食(高脂肪、低碳水化合物、适量蛋白质的饮食),是治疗儿童难治性癫痫的重要方法。实施KD前,需排除某些代谢性疾病。虽然KD的治疗机制尚未完全明确,但已取得一定的临床疗效。多种因素影响KD的疗效。KD治疗中的不良反应大多为一过性,经积极预防和处理,一般预后良好。     

葡萄糖转运子Ⅰ缺乏综合征相关癫痫临床与分子遗传学研究

葡萄糖转运子Ⅰ缺乏综合征是一种可治的神经代谢性疾病,由SLC2A1基因突变所致,呈常染色体显性遗传,散发病例为主。SLC2A1基因缺陷导致葡萄糖不能有效通过血脑屏障,使脑组织缺乏能量供应,产生一系列神经系统症状。主要表现为早发难治性癫痫,其他症状尚包括发育落后、共济失调、阵发性运动诱发的运动障碍等。脑脊液葡萄糖降低、脑脊液葡萄糖与血糖比值低下是本病的特征性改变。生酮饮食可显著改善患者预后。     

生酮饮食的临床应用进展

生酮饮食疗法最早用于治疗难治性癫痫,对Dravet综合征、Doose综合征、West综合征、Lennox-Gastaut综合征及其他类型难治性癫痫都有一定的疗效.近年来的深入研究发现,生酮饮食是葡萄糖载体蛋白1缺陷症及丙酮酸脱氢酶缺陷症的首选治疗方法,而且对多种疾病,如神经退行性疾病、脑(脊髓)损伤、孤独症等可能有一定的效果,随着深入的研究,有待于临床的广泛应用.     

SZT2基因突变所致儿童难治性癫痫3例报告

目的报道3例SZT2基因突变所致难治性癫痫患儿的临床表现及预后。方法分析总结3例SZT2基因突变所致难治性癫痫患儿的临床资料及随访结果。结果男2例,女1例,分别于4月龄、10月龄及18月龄时出现难治性癫痫,伴有智力运动发育落后、特殊面容(高前额、睑裂下斜、眼睑下垂、弓形眉)、四肢肌张力低下、头围增大等,均有严重的癫痫性脑病表现,其中1例男性患儿(10月龄发病)因反复惊厥死亡。3例患儿基因检测结果均提示SZT2基因突变。结论对无明显诱因出现难治性癫痫伴有智力运动发育落后的患儿应尽早完善基因检测,以明确诊断。     

胶原成分在儿童系膜增生性肾小球肾炎中的变化

目的观察系膜增生性肾小球肾炎（ＭｓＰＧＮ）系膜区胶原成分的变化。方法应用链菌素亲生物素过氧化酶连接法观察了３０例轻度ＭｓＰＧＮ肾穿刺活组织标本和正常的肾小球系膜区Ⅳ型胶原及其α链（α１、α３、α５链）、Ⅵ型胶原及Ⅰ型胶原的变化。结果（１）正常肾脏组织中，Ⅳ型胶原及其α１（Ⅳ）链分布于系膜区和基底膜，α３（Ⅳ）、α５（Ⅳ）链分布于基底膜，Ⅵ型胶原分布于系膜区、肾小球基底膜和间质，Ⅰ型胶原仅分布于肾间质。（２）在轻度ＭｓＰＧＮ时，系膜区内Ⅳ型胶原及其α１链、Ⅵ型胶原含量较正常对照明显增多（Ｐ＜０．０１）；当系膜区系膜细胞超过４个时，Ⅰ型胶原开始在肾小球内出现，且在硬化肾小球内Ⅰ型胶原均呈阳性；α３（Ⅳ）、α５（Ⅳ）链与正常对照比较无明显变化，硬化肾小球α３（Ⅳ）、α５（Ⅳ）染色呈阳性。结论系膜区胶原成分增多可先于系膜细胞增生，并随系膜细胞增生而增多，间质胶原成分Ⅰ型胶原，不但出现于硬化肾小球内，而且出现于系膜细胞增生较重时     

Breastfeeding perceptions in communities in Mangochi district in Malawi

Aim: To investigate mothers’ perceptions of breastfeeding and influences from their social network. Methods: A cross‐sectional survey was carried out in Mangochi district, Malawi where questionnaire data from 157 rural and 192 semi‐urban mother–infant pairs were obtained. Results: The proportion of mothers who thought that exclusive breastfeeding should last for 6 months and those who reported to have actually exclusively breastfed were 40.1% and 7.5% respectively. Of those who reported practising exclusive breastfeeding for 6 months, 77.5% stated that exclusive breastfeeding should last for 6 months. This opinion was independently associated with giving birth in a Baby‐Friendly facility, OR = 5.22; 95% CI (1.92–14.16). Among the mothers who thought that exclusive breastfeeding should last for less than 6 months, 43.9% reported having been influenced in their opinion by health workers. Infant crying was the most common (62.4%) reason for stopping exclusive breastfeeding. Conclusion: The findings illustrate the positive impact health workers can have, as well as the need to raise awareness of the benefits of exclusive breastfeeding among both health workers and mothers. Furthermore, continued counselling of mothers on how to deal with stressful infant behaviour such as crying may assist to prolong exclusive breastfeeding.     

Cardiomyopathy in children in Ahmedabad

A clinical study and follow up of 20 children with cardiomyopathies upto age of 16 years are presented. The DCM was most common variety followed by RCM and HCM in pediatric age group. SHMD presenting with cardiomyopathy were common in infancy and early childhood. Cardiomyopathies presented most frequently between 2–5 years and 10–16 years age group with DCM having almost equal distribution. Clinical presentation of various types is described, despite of vigorous decongestive and vasodilator treatment in advanced cases, course was rapidly downhill and prognosis is poor in general.     

北京地区2007年儿童A群轮状病毒腹泻的流行病学研究

目的 研究北京地区急性腹泻儿童中A群轮状病毒(RV)感染的流行病学特点.方法 收集2007年4月至12月我院肠道门诊就诊的2039例急性腹泻患儿的粪便标本,采用标记金的A群RV单克隆抗体,以免疫层析双抗体夹心法定性检测A群RV抗原.结果 2039份粪便标本中,621份检测到A群RV,总检出率为30.5%(621/2039),其中男430例(69.2%),女191例(30.8%).RV感染者中,以6个月～2岁年龄段的患儿为最多,共571例(91.9%).检出率以10～12月份最高,均在30%以上,其中高峰出现在11月份,达43.4%.北京地区18个区县的统计数据显示,距市区较近的区县RV抗原检出率较低,边远区县较高.少部分患儿合并肠道细菌感染.结论 A群RV为北京地区2岁以下儿童急性腹泻病的主病原,6个月～2岁婴幼儿是A群RV的易感人群,10～12月份为北京地区的流行高峰.在流行季节对肠道细菌感染患儿常规进行A群RV抗原检测有助于避免漏诊和进行更合理的治疗.     

Achalasia in siblings in infancy

Achalasia is rare in children, more so familial. We report two siblings with familial achalasia who presented in their infancy with vomiting and failure to thrive. Achalasia can be misdiagnosed as upper gastrointestinal obstruction as happened in one of our siblings. Esophageal contrast roentgenography is diagnostic. Both the children were treated successfully by transabdominal esophagomyotomy with fundoplication.     

哮喘大鼠气道重塑中尾加压素-的表达变化

目的：研究哮喘大鼠气道重塑血清和支气管肺泡灌洗液（BALF）中尾加压素 Ⅱ（U-II）含量的变化及其作用。方法：32只雄性Sprague-Dawley大鼠随机分为正常对照组、哮喘2周组、哮喘4周组和哮喘8周组,每组8只。以卵清白蛋白(OVA)致敏与激发建立哮喘大鼠气道重塑模型,图像分析技术测量大鼠支气管壁总面积和平滑肌面积,计算单位基底膜周径(Pbm)的支气管壁厚度(Wat)和平滑肌厚度(Wam),ELISA法测定血清和BALF中U-II的含量。结果：哮喘各组Wat及Wam均明显高于正常对照组（P<0.01）;哮喘组血清和BALF中U-II含量均显著高于正常对照组（P<0.01）,其中哮喘8周组血清和BALF中U-II含量显著高于哮喘4周组和哮喘2周组（P<0.01）,哮喘4周组也显著高于哮喘2周组（P<0.01）。各组大鼠BALF中的U-II含量与Wat及Wam呈正相关,BALF与血清中U-II含量亦呈正相关。结论：哮喘大鼠气道重塑血清和BALF中U-II含量增加;且U-II含量的变化与气道重塑相关。［中国当代儿科杂志,2010,12（4）：287-289］     

Poisoning in children in Japan

The Japan Poison Information Centre (JPIC) received 31510 inquiries about poisoning in children under 6 years old being exposed to poison in the fiscal year 1995. The most frequently implicated products were tobacco (20%) and the peak age for ingestion of household products was 1 year and younger (83.3%). Especially, the inquiries related to children less than 1 year old were 35.7% of the cases. In contrast, the American Association of Poison Control Centers (AAPCC) data showed that the most common poisonings were due to pharmaceutical products and the inquiries related to children less than 1 year old were only 12.1%. The objective of this report was to find out the poison exposure in children in Japan and to compare the data with that of AAPCC.     

转流术治疗小儿精索静脉曲张

目的 采用转流术治疗小儿精索静脉曲张，重新建立精索静脉通道，使静脉回流受阻立即得到改善，消除因睾丸淤血而造成的损害，以利睾丸的正常发育。方法 对28例30侧(左侧26例，双侧2例)精索静脉曲张与腹壁下静脉进行吻合，通过腹壁下静脉，髂静脉转流，手术在放大镜下应用显微外科技术进行，其中28侧用精索静脉主干，2侧结扎一条属支，用另一条静脉进行吻合。结果 通畅率为100％。术后扩张迂曲静脉团消失，阴囊下坠感消失。术后随访24例，时间为3个月-10年。除1例二次手术证实为一条静脉属支漏扎而复发外，另23例全部治愈。结论 精索静脉曲张转流术效果明显优于结扎术，可减少因睾丸淤血对其造成的进一步损害，且术后复发率低。     

Rotavirus infection in children in Japan

Currently, a high morbidity of rotavirus diarrhea has been seen in children in developed and developing countries. Improvement of the vaccines is necessary in order to reduce the burden of diarrhea caused by rotavirus. A survey of rotavirus infection from diarrheal stool specimens in children of seven regions in Japan was conducted from 1984 to 1999. The present study discusses the survey results and reviews the national and international data of more than 23 papers and congress proceedings about rotavirus infection in Japan. We analyze the prevalence of rotavirus infection in acute diarrheal in- and outpatients, the distribution of rotavirus G-serotypes and surveillance data for seasonality and age groups in Japan. The data indicated that rotavirus is the most important cause of diarrhea in Japan among young children, with the prevalence ranging from approximately 9.7 to 88%. The most common rotavirus strains belonged to serotype G1, specifically since 1993. Serotypes G2, G3 and G4 had also been documented to be predominantly based in the area and year before 1992. However, untypeable rotavirus strains had been found each year, with a prevalence up to 56.7% which suggests that rare serotypes (except G1-4) or new serotypes might exist. Unexpectedly, in Tokyo and Sapporo from 1998 to 1999, G9 was found to be the first most prevailing serotype with a high prevalence of 52.9 and 71.4%, respectively. Despite these data from different geographic areas, the year under investigation was relatively clear in respect to seasonality, with a peak of rotavirus activity in late winter (February) through early spring (March). Age distribution had also characterized that the infection was predominant among children aged 1-2 years of age, although it was also common in children of 2-3 years. In addition, mixed infection with bacteria was documented.