The challenge of pain assessment in children with cognitive disabilities: Features and clinical applicability of different observational tools

Children with cognitive disabilities are at greater risk of experiencing pain. It has been shown that this paediatric population often receive inadequate pain management. Pain may be very difficult to assess, especially in a defined subgroup with non‐communicating intellectual disability or severe cognitive disability. Accordingly, several observational pain assessment tools have been proposed to overcome this issue. Due to the absence of an ideal measurement tool, accurate pain assessment requires, after a case‐by‐case analysis, selecting the more appropriate tool or a variety of combined instruments. The aim of this work is to provide a comprehensive review of the pain assessment tools commonly used in cognitively impaired children. Critical discussion on features and clinical applicability may suggest how to overcome this difficult challenge. Furthermore, this review will help further research aiming to design new instruments and to improve already‐in‐use tools.     

Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: {"type":"entrez-nucleotide","attrs":{"text":"NM_005687.4","term_id":"743405629","term_text":"NM_005687.4"}}NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.     

骨髓增生异常综合征患者细胞遗传学检测临床意义

目的研究骨髓增生异常综合征患者细胞遗传学异常表型及其与MDS患者转归关系。方法采用骨髓细胞直接法或24~48小时培养法制备染色体,用RHG技术进行核型分析。结果MDS患者异常染色体出现率46%,主要有 8、-7、5q-、11q-、20q-,并有复杂异常核型。复杂异常核型患者急性白血病转化率明显高于核型正常者。结论MDS患者有异常核型者易转为急性白血病,异常染色体出现与该类患者转归有直接关系,核型分析对MDS患者预后判断有重要价值。     

慢性肺源性心脏病急性加重期98例糖代谢异常分析

目的:探讨慢性肺源性心脏病(肺心病)急性加重期糖代谢异常变化及其原因。方法:选择无糖尿病病史的肺心病急性加重期患者98例进行糖耐量试验(OGTT),并同健康对照组相比较。结果:肺心病患者血糖峰值为(8.46±0.61)mmol/L,显著高于对照组(7.59±0.50)mmol/L(P<0.01);平均高峰时间为(0.60±0.18)小时,而对照组为(0.75±0.24)小时,2组差异有显著性意义(P<0.05)。结论:肺心病患者糖代谢异常,可能与胰岛素分泌不足和胰岛素灭活障碍有关。     

孤独症谱系障碍儿童发育倒退的影响因素

孤独症谱系障碍(ASD)是一组以不同临床表现为主要特征的神经发育性障碍。近年来,ASD儿童的发育倒退(DR)受到越来越多的关注,并被认为可能是ASD的一种特殊亚型。目前关于ASD儿童DR的影响因素尚不清楚,综合文献分析主要是由遗传、环境及其交互作用共同引起。本文拟从遗传和环境两方面对目前报道的ASD儿童DR影响因素进行总结,为该部分ASD患儿的临床早期识别和干预提供参考。     

麦冬水浸提液对大鼠胚胎/胎儿发育毒性研究

目的:观察麦冬水浸提液对SD大鼠胚胎/胎儿的发育毒性。方法:采用SD孕鼠,分为溶媒对照组、麦冬组,每组20只交配成功动物,于妊娠第6~17天经口灌胃给予麦冬水浸提液26.9 g.kg-1,每天1次,于妊娠第20天解剖。观察母体动物的临床症状、体重变化、黄体数、着床数、胚胎生存死亡情况、生存胎仔的体重、性别、外观、内脏及骨骼检查等指标。结果:麦冬水浸提液对SD大鼠的母体及胚胎/胎儿发育各项指标未见明显影响。结论:在本实验条件下,麦冬水浸提液未见明显的母体毒性与胚胎/胎儿发育毒性。     

三联术治疗发育性髋关节脱位的临床研究

目的:探讨使用三联术治疗发育性髋关节脱位的方法及疗效。方法:2002年5月~2007年8月,采用三联术治疗发育性髋关节脱位76例(105髋),男9例,女67例;年龄1~5.5岁(平均2.7岁),手术方式全部采用三联术,分别于术后5周、3个月、6个月随访,以后每年随访1次,对髋关节功能(Mckay标准)和X线片(Severin标准)进行复查。结果:7例失访,余69例(96髋)获3~8年随访(平均4.7年)。按Mckay标准评定髋关节功能,术后优良率达95.83%。按Sever-in标准评定X线表现,术后优良率达93.75%。结论:三联术手术疗效满意,为治疗儿童发育性髋关节脱位的一种有效术式。     

Analysis of etiology,chromosome and prognosis for small left heart system development in 69 fetuses

Objective: To provide a basis for evaluating the prognosis of small left heart system development in fetuses, we analyzed its related factors.

Methods: The fetal echocardiogram was performed in 3859 pregnant women, and then small left heart system development was identified in 69 fetuses. The data of prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, chromosome and autopsy after induced labor were analyzed in the 69 fetuses.

Results: Except 1320 cases losing follow-up, 2539 cases had complete data. Among the 2539 cases, small left heart system development was identified in 69 fetuses. Of the 69 fetuses, 12 had hypoplastic left heart syndrome, 20 premature closure of foramen ovale, 13 total anomalous pulmonary venous drainage, 2 common pulmonary vein lumen atresia, 21 aortic coarctation or interruption and 1 right pulmonary hypoplasia. Among the 69 fetuses, chromosome abnormality was found in 7.

Conclusion: There are many etiological factors causing small left heart system development. The prognosis is poor in the fetuses with hypoplastic left heart syndrome, common pulmonary vein lumen atresia, pulmonary hypoplasia, other malformations or/and chromosome abnormality. Fetal echocardiography combined with chromosome examination can provide important bases for making diagnosis and evaluating the prognosis regarding small left heart system development.