行为问题儿童的生活质量及其影响因素调查

目的:探讨行为问题儿童的生活质量及影响因素.方法:采用Conners量表和儿少主观生活质量问卷调查2087例少年儿童的行为问题和生活质量,然后将问题儿童与正常儿童的结果做比较.结果:行为问题儿童的生活质量明显低于正常儿童,相关分析显示儿少主观生活质量问卷与Conners量表父母问卷和教师评定量表的部分因子存在不同程度的相关.逐步回归显示儿童的学业、行为问题、家庭经济、父亲性格、年龄、父母对不良行为的处理方式、独生共7个变量影响着儿童的生活质量.结论:行为问题儿童生活质量下降,需要得到学校、家庭、同伴、社会等多方面的关怀帮助.     

解剖钢板结合连续被动运动功能锻炼治疗胫骨平台骨折

目的 评价解剖钢板结合连续被动运动(CPM)功能锻炼在治疗胫骨平台骨折中的应用价值.方法 2003年5月至2005年10月本院34例胫骨平台骨折行解剖复位、解剖钢板内固定并在术后进行CPM功能锻炼.结果 术后对患者行X线检查示骨折实现解剖复位或接近解剖复位.23例患者经5～30个月随访骨折均愈合,无植骨坏死发生.CPM功能锻炼后运动功能恢复优良率为82.6%(19/23).结论 采用关节面的解剖复位、解剖钢板及牢固固定后配合术后CPM功能锻炼对于胫骨平台骨折有很好的疗效.     

CT导向下^125I粒子植入治疗肺转移癌15例疗效观察

目的观察CT导向下125I粒子植入治疗肺转移癌的临床疗效。方法15例肺转移癌患者,男8例,女7例,15例病灶数为58个,平均每人3.9个病灶,病灶平均直径为2.5cm。在CT导向下将125I粒子植入肺转移瘤灶内,采用治疗计划系统计算布源;对残留厚度≤1.0cm的肿瘤选择平面植入方法,采用18.5~29.6MBq活度的125I粒子相隔1.0~1.5cm平面播植。结果15例58个病灶,完全缓解31个;部分缓解14个;无变化8个;进展5个。总有效率77.6%。结论放射性粒子植入治疗肺部转移癌临床疗效好,创伤小,并发症发生率低。     

小学生行为问题综合干预效果的研究

目的:观察小学生行为问题综合干预效果.方法:应用自编儿童心理卫生调查问卷、Achenbach儿童行为量表(CBCL),以整群抽样的方法,抽取社区所属的两所小学一年级学生1482人为研究对象,随机选取其中一所小学学生738人为干预组,另一所小学744人为对照组,对干预组进行为期2年的综合干预,前瞻性观察行为问题干预效果.结果:按CBCL的中国常模判断行为问题的标准,干预前符合此标准者干预组109人,检出阳性率为14.8%;对照组113人,检出阳性率为15.2%,两组比较差异无显著性(χ2=0.51,P>0.05).干预前两组家庭环境及父母对子女教育等情况比较,差异无显著性(P>0.05).经过对干预组进行2年综合干预后,对两组再重新进行问卷调查,评估干预效果.干预组儿童行为问题检出阳性率明显下降至8.8%,与干预前比较差异有非常显著性(χ2＝12.58,P<0.01).干预组在干预后父母关系、亲子关系、教育方式等方面均有明显改善,与干预前相比差异有显著性(P<0.05).对照组两年后儿童行为问题检出阳性率为14.1%,前后比较差异无显著性(χ2=0.33,P>0.05).结论:对小学生的行为问题早期进行综合性干预,有助于减少行为问题的发生.     

The cholesteryl ester transfer protein (CETP) locus as a candidate gene in abdominal aortic aneurysm

Abdominal aortic aneurysm (AAA) is a relatively common disease of the elderly presenting as progressive dilatation of the abdominal aorta. The condition shows a pronounced tendency to cluster in families, indicating a genetic component in the disease aetiology. We have screened the cholesteryl ester transfer protein (CETP) gene, which has been proposed as a candidate gene in AAA, by means of SSCP, DNA sequencing and restriction analysis in a cohort of patients with AAA and a matching control group drawn from the Irish population. The analysis has demonstrated sequence variation at four sites in the CETP gene: an A-T transversion in exon 9 (producing a Lys309-Stop codon substitution), a G-A transition in exon 14 (producing a conservative Va1421-Ile substitution), a C-T transition in intron 12 and a G-A transition in intron 15. None of the last three sites corresponded with sites of functional significance in the protein, suggesting that this reflects neutral polymorphism at the CETP locus. Furthermore, the frequencies of these four polymorphisms in the AAA patient and control groups were not significantly different. These data therefore suggest that CETP may be excluded as a candidate gene in abdominal aortic aneurysm.     

Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

It is unclear whether hypothyroidism is present in patients with Prader–Willi syndrome (PWS). This study aimed to clarify the state of the hypothalamic–pituitary–thyroid axis and the effects of growth hormone (GH) treatment on thyroid function in pediatric patients with PWS. We retrospectively evaluated thyroid function in 51 patients with PWS before GH treatment using a thyroid‐releasing hormone (TRH) stimulation test (29 males and 22 females; median age, 22 months). We also evaluated the effect of GH therapy on thyroid function by comparing serum free triiodothyronine (fT3), free thyroxine (fT4), and thyroid stimulating hormone (TSH) levels at baseline, 1 year, and 2 years after GH therapy. TSH, fT4, and fT3 levels were 2.28 μU/ml (interquartile range [IQR]; 1.19–3.61), 1.18 ng/dl (IQR; 1.02–1.24), and 4.02 pg/dl (IQR; 3.54–4.40) at baseline, respectively. In 49 of 51 patients, the TSH response to TRH administration showed a physiologically normal pattern; in two patients (4.0%), the pattern suggested hypothalamic hypothyroidism (delayed and prolonged TSH peak after TRH administration). TSH, fT4, and fT3 levels did not change significantly during 1 or 2 years after GH treatment. The TSH response to TRH showed a normal pattern in most patients, and thyroid function did not change significantly during the 2 years after initiating GH treatment.     

Immunologic events in pigeon breeders'' disease

The immunologic and physiologic status of a group of symptomatic and asymptomatic pigeon breeders was studied in an attempt to define the immunologic events occurring in pigeon breeders' disease. Antibody activity to antigen(s) present in pigeon dropping extract (PDE) and pigeon serum (PS) was detected in the serum of both symptomatic and asymptomatic breeders. Antibody activity, however, tended to be greater in the symptomatic pigeon breeders. When subjects were challenged with PS via aerosol, serum complement activity became depressed only in asymptomatic patients. Cellular hypersensitivity to antigens present in PDE was detected in vitro in peripheral lymphocyte populations of 4 of 5 symptomatic breeders and in none of the asymptomatic breeders; cellular hypersensitivity to antigens in PS was not demonstrated in any of the individuals tested. These findings indicate that cell-mediated hypersensitivity, as well as humoral immunologic processes, may be involved in the pathogenesis of the hypersensitivity pneumonitis found in pigeon breeders.     

腹膜透析病人的焦虑和抑郁水平与其病情变化的相关分析

目的:探讨腹膜透析病人情绪障碍,即焦虑症状和抑郁症状的发生情况,以及与透析相关因素的关系.方法:88例腹膜透析病人,使用Hamilton焦虑量表和Hamilton抑郁量表评估其情绪状况,同时测定其营养状况、残余肾功能和透析充分性、以及炎症水平,记录心脑血管事件发生情况等.结果:本组腹膜透析病人焦虑症状的发生率为44.3%,抑郁症状的发生率为56.8%.具有糖尿病和心脑血管病史者的Hamilton焦虑评分和抑郁评分高于无此类病史者(P<0.05).SGA评分较高的病人Hamilton焦虑评分和抑郁评分也较高;焦虑评分和抑郁评分较高的病人,其血清白蛋白水平、蛋白质摄入水平、体重指数、上臂中段肌肉面积和脂肪面积均较低(r=0.22～0.60,P<0.05或P<0.01).结论:腹膜透析病人焦虑症状和抑郁症状的发生率较高,焦虑症状和抑郁症状与心脑血管系统疾病和糖尿病相关,并可能与营养不良的发生存在一定的关系.     

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms

Gaucher disease, the most prevalent sphingolipidosis, is caused by the deficient activity of acid beta-glucosidase, mainly due to mutations in the GBA gene. Over 200 mutations have been identified worldwide, more than 25 of which were in Spanish patients. In order to demonstrate causality for Gaucher disease, some of them: c.662C>T (p.P182L), c.680A>G (p.N188S), c.886C>T (p.R257X), c.1054T>C (p.Y313H), c.1093G>A (p.E326K), c.1289C>T (p.P391L), c.1292A>T (p.N392I), c.1322T>C (p.I402T), and the double mutants [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), were expressed in Sf9 cells using a baculovirus expression system. Other well-established Gaucher disease mutations, namely c.1226A>G (p.N370S), c.1342G>C (p.D409H), and c.1448T>C (p.L444P), were also expressed for comparison. The levels of residual acid beta-glucosidase activity of the mutant enzymes produced by the cDNAs carrying alleles c.662C>T (p.P182L), c.886C>T (p.R257X), c.1054T>C (p.Y313H), c.1289C>T (p.P391L), and c.1292A>T (p.N392I) were negligible. The c.1226A>G (p.N370S), c.1322T>C (p.I402T), c.1342G>C (p.D409H), c.1448T>C (p.L444P), and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]) alleles produced enzymes with levels ranging from 6 to 14% of the wild-type. The three remaining alleles, c.680A>G (p.N188S), c.1093G>A (p.E326K), and [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]), showed higher activity (66.6, 42.7, and 23.2%, respectively). Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone. These results suggest that c.1093G>A (p.E326K) should be considered a "modifier variant" rather than a neutral polymorphism, as previously considered. Mutation c.680A>G (p.N188S), which produces a mutant enzyme with the highest level of activity, is probably a very mild mutation or another "modifier variant."     

慢性不完全性睡眠剥夺对幼鼠学习记忆的影响

目的：探讨慢性不完全性睡眠剥夺对幼鼠学习记忆能力的影响及其可能机制。方法：建立慢性不完全性睡眠剥夺动物模型，并测定其空间学习记忆能力，同时对幼鼠大脑前额皮质及海马神经元性一氧化氮合酶(nNOS)的表达进行分析。结果：睡眠剥夺组幼鼠完成预定任务所需的时间及发生错误的次数均超过正常对照组。睡眠剥夺组的nNOS在前额皮质区域阳性、强阳性表达面积及在海马区域强阳性表达面积均大于正常对照组。结论：慢性不完全性睡眠剥夺会影响幼鼠的学习记忆能力，而前额皮质及海马中nNOS表达水平的下降可能是慢性不完全性睡眠剥夺影响未成熟脑学习记忆能力的机制之一。