婴幼儿期确诊的杜氏肌营养不良一例并文献复习

进行性肌营养不良(progressive muscular dystrophy,PMD)根据遗传方式等因素,可分为六种主要的亚型,其中以杜氏肌营养不良(Duchenne muscular dystrophy,DMD)最常见。DMD主要是由抗肌萎缩蛋白基因突变引起的X连锁隐性遗传病,已知抗肌萎缩蛋白基因是目前人类最大的基因.     

儿童进行性脊髓性肌萎缩的诊断与鉴别诊断

儿童进行性脊髓性肌萎缩(spinal muscular atrophy,SMA)是常见的基因遗传病之一,为常染色体隐性遗传病,其发病率为0.8/10万[1]。病理改变仅限于脊髓前角细胞,不累及上运动神经元,是下运动神经元变性导致进行性、对称性肌萎缩和肌张力减低;病变可从肢体进行性肌无力、肌萎缩及肌     

儿童型脊髓性肌萎缩症致病基因的研究进展

脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一组以脊髓前角细胞(有时也累及脑干运动神经元)变性和缺失的遗传性疾病,临床表现为肌无力和肌萎缩,人群发病率为1／6000～1／10 000,携带频率为1／40～1／60,是儿童期常染色体隐性遗传性疾病。     

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进行性肌营养不良(progressive muscular dystrophy,PMD)是一组原发于肌肉组织的遗传代谢性疾病,其临床特点为进行性加重的肌萎缩和肌无力,患者最终完全丧失运动功能。本文从常规生化和肌肉病理检查等方面早期诊断1例婴儿PMD,现报道如下。     

儿童型脊髓性肌萎缩症SMN-T和SMN-C拷贝数定量分析

脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一组由脊髓前角细胞变性所致的肌无力和肌萎缩的遗传性神经肌肉疾病。本研究通过对我院1997～2001年间临床及病理确诊的儿童型SMA进行SMN-T(端粒侧运动神经元生存基因)及SMN-C(着丝粒侧运动神经元生存基因)拷贝数的定量测定,以探讨临床及病理诊断为SMA,     

脊髓性肌萎缩症呼吸管理专家共识(2022版)

脊髓性肌萎缩症(spinal muscular atrophy,SMA)本文特指5q-SMA,属常染色体隐性遗传病,临床特征为脊髓前角α运动神经元退行性病变和神经肌肉接头发育异常导致的肌无力和肌萎缩。SMA常累及呼吸系统,引起呼吸系统病理生理改变,导致低通气、咳嗽减弱、痰液堵塞等一系列呼吸问题。呼吸衰竭是SMA患儿最常...     

《脊髓性肌萎缩症新生儿筛查专家共识（2023版）》解读

<正>2023年7月，由中国研究型医院学会神经科学专业委员会、中国出生缺陷干预救助基金会神经与肌肉疾病防控专项基金牵头，组织国内专家制定并发表了《脊髓性肌萎缩症新生儿筛查专家共识(2023版)》^[1](以下简称共识)。共识围绕脊髓性肌萎缩症(spinal muscular atrophy,SMA)新生儿筛查流程与相关问题、SMA筛查后确诊流程与相关问题、筛查确诊SMA新生儿的疾病管理等提出了相应建议。     

Duchenne肌营养不良患儿抗肌萎缩蛋白基因突变的检测

Duchenne肌营养不良(Duchenne muscular dystrophy,DMD)是X连锁隐性遗传引起的严重的神经肌肉疾病,男性新生儿的发生率为1/3500.临床表现以进行性肌肉无力和萎缩为特征,通常在12岁左右不能行走,20岁左右死于呼吸或心脏衰竭.目前认为DMD是由于基因突变致dystrophin(抗肌萎缩蛋白)表达障碍引起的.Dystrophin基因是人类最大的基因之一,定位于Xp21,全长约2.5 Mb,编码79个外显子,具有突变频率高且突变形式多样的特点[1].通常使用的方法实施高效、准确及快速诊断较为困难.     

脊髓性肌萎缩症1例报道

脊髓性肌萎缩症（spinal muscular atrophy,SMA）是一种常染色体隐性遗传病,是由于脊髓前角细胞变性导致的肌肉萎缩,研究表明其发病与SMN基因有关,国外报道发病率为1／6000～1／10000,携带者频率为1／40～1／60。现将我院门诊诊断的1例患儿报道如下,以期提高临床医师对该病的认识。     

脊髓性肌萎缩症治疗研究进展

脊髓性肌萎缩症(spinal muscular atrophy, SMA)是一种常染色体隐性遗传性神经肌肉病, 主要特征是脊髓前角运动神经元变性导致的四肢近端进行性肌无力和肌萎缩, 可累及呼吸、消化及骨骼等多个系统。未经治疗的严重1型SMA患儿通常在2岁内死亡。近年来, SMA的治疗获得飞速发展, 多种药物已获批上市, 患者有望从中受益。然而, 现有的任何一种治疗药物和方案都不能达到完全治愈的效果, 因此不同治疗策略、不同作用机制药物的联合治疗以及潜在药物的研究开发成为未来SMA治疗的发展方向。该文就SMA的治疗药物及联合治疗最新研究进展进行综述, 为SMA的治疗实践提供参考。     

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.