Leisure Activities of Individuals With Prader-Willi, Williams, and Down Syndromes

This study extends laboratory-based profiles to participation in leisure activities for persons with three genetic syndromes. Parents of 223 persons with Prader-Willi, Williams, and Down syndromes filled out a newly developed Leisure Activities Questionnaire. Sixteen items loaded onto five distinct factors: social; visual-spatial; visual-strategy; musical; and physical activities. Individuals with Williams syndrome less often participated in visual-spatial activities, those with Prader-Willi syndrome more often performed both visual-spatial and visual-strategy activities, and those with Williams and Down syndromes more often performed musical activities. With increasing chronological ages, all groups increased in their social activities, while those with Williams and Down syndromes decreased in their visual-spatial activities. In both Prader-Willi and Williams syndrome, decreased maladaptive behaviors related to greater amounts of participation in etiology-related activities. Theoretical and practical implications are discussed.     

晚期肺癌的中医证候研究

目的　探讨晚期肺癌的主要中医证候。方法　采用回顾性与前瞻性相结合的方法进行临床观察。结果　经 χ2 检验 ,不同中医证候的晚期肺癌组之间有显著性差异 (P <0 0 1) ,而血瘀证、气虚证、痰证、阴虚证最为多见 ;晚期非小细胞肺癌与晚期小细胞肺癌的中医证型没有显著性差异。结论　晚期肺癌的中医证候以血瘀证、气虚证、痰证、阴虚证为主 ;晚期非小细胞肺癌与小细胞肺癌的中医证候无明显差异。     

人卵泡液中干细胞因子水平及其对卵泡发育的影响

目的 :探讨人卵泡液中是否存在干细胞因子 (SCF)及其与卵泡发育的关系 .方法 :采用夹心ELISA方法检测 3 0例进行体外受精 胚胎移植 (IVF ET)患者超促排卵前、取卵时血清与卵泡液中SCF的水平 .结果 :①取卵时卵泡液中SCF水平 (5 14± 67)ng·L 1,显著高于同期血清水平 (3 95± 4 9)ng·L 1,差别有显著性 (P <0 .0 5 ) ;②取卵时血清中SCF水平与超促排卵前血清中SCF水平相比 ,差别无显著性 [(3 95± 4 9)ng·L 1,(3 74± 3 6)ng·L 1,P >0 .0 5 ];③高、中反应型组卵泡中SCF水平 [(5 64± 64)ng·L 1,(5 3 2± 5 5 )ng·L 1]与低反应型 (3 5 2± 78)ng·L 1相比 ,差别有显著性 (P <0 .0 1) ,且与卵泡发育数目之间呈正相关 (r =0 .4 12 ,P <0 .0 5 ) .结论 :卵泡液中SCF可能来自于卵泡本身 ,而非血浆渗透 .SCF参与人卵泡发育的调控     

Opposite effects of internal globus pallidus stimulation on pallidal neurones activity.

Besides clinical efficacy, the mechanisms of action of deep brain stimulation (DBS) are still debated. To shed light on this complex issue, we have taken the opportunity to record the response of globus pallidus internus (GPi) neurones to 100 Hz stimulations in a case of Lesch-Nyhan syndrome (LNS) where four pallidal electrodes were implanted. Three types of response were observed, 2/19 neurones were unaffected by DBS. About 7/19 neurones were inhibited during DBS stimulation and 10/19 neurones were excited during DBS stimulation. Both effects ceased when DBS was turned off. Inhibited neurones were situated lower that exited ones on the trajectory (1.25 and 4.65 mm above the center of GPi respectively). These observations suggest that locally DBS induces a reversible inhibition of neurone firing rate while at the same time distantly exciting the main afferents to and/or efferents from the GPi. Both actions would result in a strong GPi inhibition that does not preclude increased outflow from the GPi.     

Tourette综合征患儿体感诱发电位变化的意义

目的探讨Tourette综合征(TS)患儿体感诱发电位(SEP)变化特征及其对脑功能损害程度及定位诊断的价值。方法对76例TS患儿(TS组)、20例精神发育迟滞(MR)患儿(MR组)和22例健康儿童(正常对照组)进行SEP检测,观察各组各波的潜伏期和形态改变。结果与正常对照组儿童相比,TS组N2、P3、N3波潜伏期延长,MR组P2、N2、P3波潜伏期延长,但均无显著性差异(P均>0.05);TS组和MR组与正常对照组儿童比较,N2、P3、N3波有缺失现象,差异有显著性意义(P均<0.01)。TS与MR组患儿的波形缺失均以右侧为甚,但两侧比较差异无显著意义(P>0.05)。结论TS患儿存在皮层及皮下脑功能损害,体感诱发电位可作为TS的辅助诊断指标。     

Noonan syndrome associated with central giant cell granuloma

We report a case of Noonan syndrome associated with central giant cell granuloma. The patient was a 101/2-year-old boy with the chief complaint of proptosis of the right eye. He also had various malformations such as short stature, webbed neck, pectus excavatum, cubitus valgus, pulmonary valve stenosis and patent foramen ovale, a characteristic face appearance and cryptorchidism and so on. Chromosome analysis showed a 46, XY karyotype. A computed tomographic scan and magnetic resonance imaging showed a mass originated from the lateral wall of the right maxillary sinus. The patient underwent Caldwell-Luc operation. Histological examination of the mass showed the characteristics of central giant cell granuloma. This case report describes a patient with the features of the recently described Noonan-like/multiple giant cell lesion syndrome.     

脑立体定向术临床应用

目的：探讨以脑立体定向术治疗震颤麻痹、癫痫、癌性疼痛、慢性精神病及颅内金属异物的方法和疗效。方法：用多功能脑立体定向仪对不同疾病毁损其不同的核团。结果：震颤麻痹１６６例共１８２次手术中治愈１３例次，显效１４５例次，有效１１例次，无效１２例次，死亡１例，有效率达９２９％；癫痫１８例，显效１１例，有效４例，无效３例，有效率达８３３％；癌性痛疼５例均显效；精神病３例，显效２例，有效１例；颅内异物２例均治愈。结论：脑立体定向术对以上疾病均取得了较为满意及良好的疗效，总有效率达９２４％，并且比传统开颅术简便安全     

Delayed sleep phase syndrome: A placebo-controlled cross-over study on the effects of melatonin administered five hours before the individual dim light melatonin onset

In a double-blind placebo-controlled cross-over study, 30 patients with Delayed Sleep Phase Syndrome (DSPS) were included, of whom 25 finished the study. Melatonin 5 mg was administered during two weeks in a double-blind setting and two weeks in an open setting successively or interrupted by two weeks of placebo. The study's impact was assessed by measurements of the 24-h curves of endogenous melatonin production and rectal temperature (n=14), polysomnography (n=22), actigraphy (n=13), sleep log (n=22), and subjective sleep quality (n=25). Mean dim light melatonin onset (DLMO) (±SD), before treatment, occurred at 23.17 hours (±138 min). Melatonin was administered five hours before the individual DLMO. After treatment, the onset of the nocturnal melatonin profile was significantly advanced by approximately 1.5 hour. Body temperature trough did not advance significantly. During melatonin use, actigraphy showed a significant advance of sleep onset and polysomnography, a significant decreased sleep latency. Sleep architecture was not influenced. During melatonin treatment patients felt significantly more refreshed in the morning. These results show that analysis of DLMO of patients suffering from DSPS is important both for diagnosis and therapy. These results are discussed in terms of the biochemistry of the pineal.     

卵巢癌细胞多种细胞因子基因表达的研究

本文应用RT-PCR方法,检测5例刚分离的晚期上皮性卵巢癌患者肿瘤细胞和3例卵巢痛患者腹水中肿瘤细胞IL-2、IL-2R、TNF-a,IL-6、TGF-p、IL-10等细胞因子基因的表达,用免疫学方法检测卵巢癌细胞上清液中IL-6活性。结果发现:卵巢癌肿瘤细胞表达IL-6mRNA和抑制性细胞因子TGF-p、IL-10。腹水中存在较多量lL-6可能来自肿瘤细胞。