Reliability of subjective estimates of exercise capacity after total repair of tetralogy of Fallot

Sixty-nine patients (age 10 × 3.5 years, median 9.7 years) operated on for tetralogy of Fallot, underwent excercise testing 5.1 × 2.5 years after total correction. Aerobic capacity was assessed by the ventilatory threshold method. After the exercise test, parents completed a validated standardized questionnaire to evaluate the habitual level of physical activity of their child. They were then asked to place their child into one of three groups, describing their child's activity level, compared to normals (below average, average and above average). In the average and above-average groups, 73% and 65% of the patients were misclassified when compared to objective exercise testing. However, in the below-average group, no misclassifications were found. Subjective estimates of activity level, and consequently exercise tolerance, were poorly associated with objective measurements of exercise performance in these patient groups. Our results question the reliability of self-reported estimates of physical activity level and consequently exercise capacity in children after surgical correction of tetralogy of Fallot.     

术中判断肠活力三种方法的比较

术中准确地评价肠活力是外科医师面临的一个普遍问题。应用兔肠缺血模型，比较静脉荧光素、表面血氧测定和激光多普勒三种技术判断肠活力的精确性。结果：诊断效率静脉荧光素法为７８％，表面血氧测定为６８％，激光多普勒为９５％。后者精确度显著优于前二者，且操作简便、迅速，具有临床应用前景。     

婴幼儿法乐四联症手术治疗近期疗效的影响因素

目的 探讨影响婴幼儿法乐四联症手术治疗近期疗效的各相关因素.方法 将2003年8月至2011年2月经作者一期手术纠治的117例年龄≤3岁的法乐四联症患儿分为疗效良好、疗效较差两组.分析手术时患儿年龄、体重、术前HCT值、McGoon指数、EDVI、主动脉阻断时间、转流时间、室间隔缺损大小、升主动脉与肺动脉干直径比、...     

高通量测序数据分析和临床诊断流程对新生儿多发畸形候选变异的筛选准确性研究

目的构建应用于遗传性疾病诊断的基因组二代测序数据分析流程,为候选变异筛选提供参考流程。方法复旦大学附属儿科医院(我院)新生儿出生缺陷生物样本库中的87例多发畸形样本,以美国贝勒外显子组测序分析流程(贝勒流程)为参考标准进行候选变异筛选,同一批样本以我院建立的全外显子组测序分析流程(复旦流程)也行候选变异筛选,以染色体的位置和突变的碱基作为突变位点的标识符对贝勒和复旦流程检出变异逐行比较。结果 87例新生儿多发畸形样本共检出变异7 820 777个,复旦流程经质量控制、公共数据库的变异频率筛选、内部数据库的变异频率筛选、变异类型的筛选和关注与孟德尔遗传病相关的变异数筛选,平均单个病例180~210个变异作为最终候选变异行临床诊断分析;贝勒流程检出候选变异15 242个,复旦流程检出候选变异15 660个,2个流程均检出候选变异15 137个,复旦流程比贝勒流程多检出的候选变异523个,105个候选变异贝勒流程检出复旦流程未检出,复旦流程敏感度、特异度、阳性预测值和阴性预测值均高于96.66%。结论虽然复旦流程候选变异筛选能真实有效地模拟贝勒流程对WES数据进行筛选,并寻找候选变异的过程;复旦流程所展现的注释和筛选只是粗略的框架,但提供了WES应用于临床时不可或缺的筛选程序。     

小儿孟氏骨折脱位扣眼畸形的病理认识以及环状韧带重建术的探讨

目的 对小儿盂氏骨折脱位及陈旧性盂氏骨折的传统治疗方法、创伤病理解剖、治疗结果及发生漏、误诊、误治的病例进行研究,以找到解决问题的方法,提高疗效。方法 对170例盂氏骨折脱位患儿的致病原因、治疗方法、术中所见、手术方式以及治疗效果等进行研究、分析。结果 83例中,优59例,良15例,一般9例,差5例,结论 （1）盂氏骨折脱位的定义应为：尺骨干骨折合并桡-肱及桡-尺脱位,合并/或不合并桡骨上1/3骨折、桡骨颈骨折、桡骨头骨折脱位;（2）尺骨鹰嘴骨折合并肘关节脱位不应诊断为盂氏骨折;（3）提出“超伸直型”盂氏骨折的概念;（4）尺骨骨折的稳妥治疗及坚强内固定是治疗盂氏骨折的关键;（5）桡骨颈骨折既要对位好,更要对线好,以免以后发生旋转障碍;（6）急诊患儿可行环状带修补术及关节囊紧缩术,晚期患儿应行关节囊紧缩术,不主张行环状韧带重建术。     

Pathogenesis of retinopathy of prematurity

Retinopathy of prematurity (ROP) is a blinding disease, initiated by delayed retinal vascular growth after premature birth. There are both oxygen-regulated and non-oxygen-regulated factors, which contribute to both normal vascular development and retinal neovascularization. One important oxygen-regulated factor, critical to both phases of ROP, is vascular endothelial growth factor (VEGF). A critical non oxygen-regulated growth factor is insulin-like growth factor (IGF-1). In knockout mice, lack of IGF-1 prevents normal retinal vascular growth, despite the presence of VEGF, important to vessel development. In vitro , low IGF-1 prevents vascular endothelial growth factor-induced activation of Akt, a kinase critical for vascular endothelial cell survival. Premature infants who develop ROP have lower levels of serum IGF-1 than age-matched infants without disease.
Conclusion : IGF-1 is critical to normal vascular development. Low IGF-1 predicts ROP and restoration of IGF-1 to normal levels may prevent ROP.     

单眼眼内期视网膜母细胞瘤168例疗效及生存质量分析

背景 视网膜母细胞瘤(Rb)是儿童期最常见的恶性肿瘤,在90％Rb患儿所在的发展中国家,减少死亡仍是一个挑战,且患儿的生存质量较少受到关注.目的 总结单眼眼内期Rb患儿疗效、安全性及生存质量,为优化治疗方案和提高治疗安全性及有效性提供证据.设计回顾性非随机对照研究.方法 回顾性分析2009年11月6日至2019年9月5...     

主动脉缩窄的治疗研究进展

主动脉缩窄(coarctation of aorta,CoA)是主动脉的局限性狭窄,狭窄最常见于峡部,是一种常见的先天性心血管畸形,占所有先天性心脏病的5％ ～8％.缩窄导致上肢血压升高,下肢血压降低,并可引起心功能下降,未经治疗的CoA预后不佳.治疗方式包括外科治疗及经皮介入治疗,不同治疗方式的并发症发生率不同,术后长期监测其并发症、心功能是评估预后的重要指标.该文对主动脉缩窄的治疗方式及术后并发症、心功能情况的研究进展作一综述.     

Principles of psychosocial assessment of adolescents

Psychosocial and mental health problems are quite prevalent among adolescent worldwide, some data reporting up to 20% of adolescents having such problems. A number of risk factors, familial, individual and societal, have been indentified as contributing to these problems in adolescents. There are also many factors, such as family and societal connectedness,that protect adolescents from engaging in health risk behaviors that lead to psychosocial and mental health problems. A careful psychosocial assessment should be an essential part of adolescent health care. This paper provides a brief review of the principles of psychosocial assessment of adolescents.     

Outcome of the Treatment of Inborn Errors of Metabolism

The use of specific dietary restrictions, cofactor administration, mobilisation of insoluble substances, environmental modifications, product replacement and selective enzyme inhibition are now established for the treatment of some inborn errors of metabolism. There is no generally accepted application for enzyme administration, cytopharmacology (manipulation of the cytoskeleton) or for cell transplantation except for bone marrow transplantation in disorders where the bone marrow is primarily at fault. The other uses of bone marrow transplantation which have been proposed require further evaluation. Results of recent research suggest that the scope of this approach is gradually being widened. There is also scope for development in the field of organ transplantation taking advantage of recent technical¹ and immunological progress. The treatment of inborn errors of metabolism by genetic modification is not yet on a practical clinical level; more laboratory and animal studies are needed before this can be attempted in man. Adenosine deaminase deficiency appears to be the disease in which this will be first attempted using a retroviral vector to insert the gene into the genome of pluripotential bone marrow cells.     

再生障碍性贫血发病机制的研究进展

再生障碍性贫血是一种获得性骨髓造血功能衰竭综合征.主要表现为骨髓造血功能低下、全血细胞减少以及贫血、出血、感染综合征.其发病机制尚未完全明确,主要涉及造血干/祖细胞缺陷、免疫功能紊乱、骨髓造血微环境异常三个方面.近年来各国学者对再生障碍性贫血进行了大量的临床以及实验研究,对其发病机制有了更进一步的认识,该文对此方面的研究进展做简要综述.     

The influence of patency of the vaginal process on the efficacy of hormonal treatment of cryptorchidism

To investigate the effects of patency of the vaginal process (processus vaginalis testis) on the efficacy of hormonal treatment of cryptorchidism, we carried out a blind, controlled, prospective study in which all patients underwent inguinal herniography. The sample comprised 310 boys with true cryptorchidism (244 unilateral, 66 bilateral) and without symptomatic hernia/hydrocele or other pathologies. Patient age ranged from 8 months to 11 years 5 months. All patients were treated with human chorionic gonadotropin (twice-weekly intramuscular injections for 5 weeks; total dose 2500 lU for patients less than 1-year-old, 5000 IU for 1- to 6-year-olds, 10000 IU for 6- to 11-year-olds). Following treatment, 37% (139/376) of the testes descended. The incidence of descent was highest for testes initially in caudal positions. Considering only non patent (i.e., normal) vaginal processes, the incidence of testis descent was 49.5% (139/281); none of the 95 testes associated with a patent vaginal process descended in response to hormone treatment.     

哮喘个体化治疗的药物遗传学

哮喘是一种多基因遗传病,不同哮喘患儿对药物的治疗反应具有明显的个体差异,主要与个体的基因多态性有关。相关基因包括：β2-肾上腺素能受体基因(ADRB2)、糖皮质激素受体基因(NR3C1)及白三烯合成酶基因(LTC4S和ALOX5)等。药物基因组学的运用是实现哮喘个体化治疗的重要因素,降低入院率和病死率,减少治疗费用。该文对儿童哮喘相关的药物基因组学研究进行综述,以期为哮喘的个体化治疗提供帮助。     

Treatment of retinopathy of prematurity

Retinopathy of prematurity is a potentially blinding disorder of premature infants. Retinal ablation of the avascular retina originally described using cryotherapy but now most commonly undertaken with laser photocoagulation, reduces the unfavourable structural outcomes and improves the functional visual acuity outcome. The CRYO-ROP study showed the long-term benefit of treatment of threshold disease compared with no treatment, however even with cryoablation 44.4% of treated eyes had a visual acuity of 6/60 or worse at 10 year follow-up. The ETROP study of earlier treatment for high-risk pre-threshold disease, rather than treatment at threshold, has shown that pre-threshold treatment of type 1 disease produces a significantly improved outcome. Despite treatment some infants develop retinal detachment for which various surgical treatments have been described, although not always with a good functional outcome. Future treatment modalities may include the use of anti-VEGF therapies.     

Evaluation of the Efficacy of Treatment of Kawasaki Disease before Day 5 of Illness

We evaluated the efficacy of treating Kawasaki disease earlier than Day 5 of illness with a standard dose of immunoglobulin and aspirin. We performed a case–control study of patients with Kawasaki disease admitted to Princess Margaret Hospital from 1994 to 1999. Patients with pretreatment coronary aneurysm or those treated after day 10 of illness were excluded. All patients received immunoglobulin (2 g/kg) and aspirin (80–100 mg/kg/day) until fever subsided for 48 hours. Immunoglobulin retreatment was given for persistent fever 48 hours after the first dose of immunoglobulin or recrudescent fever. The case group consisted of 15 patients who received treatment earlier than day 5 of illness, and the control group consisted of 66 patients who were treated on or after day 5. Patients sex, age, duration of posttreatment fever, need for additional immunoglobulin, and coronary artery status were noted. Treatment efficacy was assessed by the duration of posttreatment fever and the prevalence of coronary artery aneurysms. Eighty-one patients were included in this study. There were 15 patients in the case group and 66 in the control group. No significant difference was noted in age and sex between the case and control groups. Thirty-three percent (5/15) and 8% (5/66) of the case and control groups, respectively, had persistent/ recrudescent fever 48 hours after the first dose of immunoglobulin that required retreatment (p = 0.017). Thirteen percent (2/15) and 5% (3/66) of the case and control groups, respectively, had coronary aneurysms (p = 0.158). Treatment of Kawasaki disease before day 5 of illness was associated with persistent/recrudescent fever that required retreatment. However, there was no significant increase in the prevalence of coronary aneurysm if retreatment was given. Poster presented at the third World Congress of Pediatric Cardiology and Cardiac Surgery, Toronto, Ontario, Canada, 2001     

哮喘儿童生活质量评定结果的分析

目的：评价支气管哮喘患儿的生活质量。方法：根据儿童哮喘生活质量访谈问卷,采用交谈的方式,对近1周有哮喘发作的患儿进行评分,并计算频度、均分、总均分和因子总均分。结果：哮喘组各因子总均分在哮喘症状、活动受限、对刺激原反应、心理功能状态及对自身健康关心等方面均较对照组高,差异有显著性(P<0.01 或 0.05)。结论：支气管哮喘损害儿童生活质量。     

Review of Some Causes of Stillbirth

Stillborn fetuses commonly demonstrate three mechanisms of death: hydrops, asphyxia, or shock. For each mechanism, the autopsy can discover any of multiple etiologies. This paper reviews the etiologies and pathogeneses of fetal death from that perspective. Received November 3, 2000; accepted April 19, 2001.     

Impact of implementation of Integrated Management of Childhood Illness on improvement of health system in China

AIM: To explore the impact of implementation of the Integrated Management of Childhood Illness (IMCI) strategy on the Chinese health system. METHODS: Pre- and post-intervention field surveys, based on the adapted World Health Organization protocol of health facility surveys and follow-up assessment tools, respectively. Three hundred and forty-five health facilities were investigated pre intervention and 74 health facilities post intervention. Observation of case management of health workers, interviews with mothers and systematic checking of equipment and drug supplies were conducted in both pre- and post-intervention surveys. RESULTS: There were significant improvements demonstrated with implementation of the IMCI strategy in terms of rational use of drugs, provision of basic equipment and drug supplies of both township and village facilities. The inappropriate use of drugs significantly decreased: injection/IV (from 43.6% to 2.7%), antibiotics (from 59.3% to 6.2%) and hormones (from 4.9% to 0). The availability of basic equipment and supplies of health facilities was improved greatly: children's scales (from 27.8% to 90.5%), timing devices (from 89.3% to 97.3%) and utilities for mixing oral rehydration salts (ORS) (from 36.5% to 100.0%). The supply of all recommended drugs increased, with ORS, vitamin A/D, iron, tetracycline eye ointment, vitamin B complex and diazepam increased greatly. CONCLUSIONS: The IMCI strategy has been shown to contribute to the improvement of the health system, promoting the efficient management of medical care at township and village level, as well as improving the relationship between doctors and patients.     

影响早产儿视网膜病变的多因素分析

目的探讨早产儿视网膜病变(ROP)发病的相关因素。方法对东南大学医学院附属盐城医院NICU完成整个诊疗随访过程的早产儿308例行眼底检查,对各相关因素进行临床分析。结果对308例早产儿行单因素分析得出,出生体质量、胎龄、蓝光照射时间、黄疸程度、吸氧时间、低碳酸血症、低氧血症、颅内出血与ROP发病呈明显相关性(P<0.05)。Logistic回归分析结果显示低胎龄、酸中毒、低碳酸血症及感染是影响ROP发生的显著因素,治疗过程规范用氧后,ROP仅发生在1、2期病变。结论预防早产、防治早产儿各种并发症发生、规范用氧是预防ROP的关键。     

发育性髋脱位闭合复位术前磁共振预判因素分析

目的探讨2岁以内发育性髋关节脱位(developmental dislocation of the hip,DDH)患儿术前磁共振相关因素对手术方式的预判。方法回顾性分析2013年7月至2017年2月收治的57例(60髋)符合条件的发育性髋关节脱位患儿资料,其中男9例,女48例。术中根据Bowen造影标准将患儿分为3组,闭合复位成功为A组(26例),闭合复位失败为B组(24例),无法复位为C组(7例)。在磁共振上测量三组患儿术前关节囊前入口角(anterior access angle,AAA)、下入口角(inferior access angle,IAA)、冠状位最大入口直径(coronal maximal access diameter,CMAD)、轴位最大入口直径(axial maximal access diameter,AMAD)、轴位股骨头直径(axial femoral head diameter,AFHD)、冠状位股骨头直径(coronal femoral head diameter,CFHD)、冠状位口径比(CMAD/AFHD)及轴位口径比(AMAD/CFHD)等指标,比较三组数据的差异有无统计学意义。Logistic多因素回归分析性别、侧别、年龄、脱位程度、负重时间等和治疗方式的相关性,受试者工作特征曲线(Receiver operating characteristic curve,ROC曲线)评估闭合复位组指标的灵敏度、特异度及拐点。结果3组数据的AAA、CFHD、AFHD等方面的差异无统计学意义(P>0.05)。A组IAA角为(108.2±9.8)°,显著大于B组(98.8±11.2)°和C组(91.7±6.9)°,三组差异具有统计学意义(P<0.05);A组与B组,A组与C组在CMAD、AMAD、CMAD/AFHD等的差异具有统计学意义(P<0.05)。A、B两组AMAD/CFHD的差异有统计学意义,A、C两组差异无统计学意义。B、C两组CMAD、AMAD、CMAD/AFHD、AMAD/CFHD的差异均无统计学意义(P>0.05)。根据Logistic多因素回归分析结果,性别、侧别、脱位程度、负重时间等和治疗方式的差异无统计学意义(P>0.05),年龄有相关性。A、B两组差异具有统计学意义的5组数据ROC曲线下最大面积为AMAD/CFHD(0.848),确定AMAD/CFHD的敏感度(74.1%)、特异度(92.3%)及拐点(0.515)。结论术前磁共振指标IAA、CMAD、AMAD、CMAD/AFHD、AMAD/CFHD可作为术前预判因素。当AMAD/CFHD比值>0.515时,建议行闭合复位治疗。