伴有LADD综合征的角膜缘干细胞缺乏

泪管-耳-牙-指（趾）（LADD）综合征是一种具有多种表现的常染色体显性遗传疾病。最初在1967年由Levy报道。1例双侧泪液系统缺失、杯状耳、干嘴，以及牙、手臂和指（趾）异常的单发病例。之后一些新发现的临床表现，如肾脏异常、唾液腺缺乏、先天性髋脱位、先天性裂孔疝和横膈疝、感觉性耳聋和传导性耳聋、牙发育不全、四肢异常、口腔干燥和眼干都被报道与此综合征有关。     

除颤仪技术的讨论

本文通过介绍了除颤仪原理、单相波和双相波电流、波形、能量,分析了除颤仪双相波技术的优点。     

试论"自甘风险"原则在审理医疗侵权纠纷案件中的应用

公正的、客观的、完善的法律制度,是调整医患法律关系,规范医疗行为,保障医患双方合法权益的客观需要。随着我国法制建设的迅速发展,目前,患者越来越需要懂得依法维护自己的生命健康权利;医生越来越需要懂得依法进行诊疗,依法履行义务,依法维护自己的切身权利和利益;社会越来越需要有公正健全的法律制度。我国卫生法学领域的“新生代”正是在这种情况下应运而生的。各地涌现出一批兼有医学和法学双学历、勤勉好学、勇于探索、热衷于卫生法学研究的年轻人,将来必有建树。本刊《医与法》栏目就是他们及时发表睿见的一个园地,欢迎来稿。     

Cortical plasticity: effect of high and low intensity conditioning electrical stimulations (100 Hz) on SEPs to painful finger stimulation.

OBJECTIVE: To study the effect of high-frequency (100 Hz) repetitive conditioning electrical stimulation (CES, 10 min) on human somatosensory evoked potentials (SEPs) to evaluate if short-term cortical plasticity could be induced. METHODS: Painful electrical stimulations were applied to thumb (D1) and little finger (D5) fingertips, respectively. The 124-channel EEG was recorded from 10 healthy male volunteers. Peak stages around 34, 45, 212, 331 ms were analyzed with focal maximum amplitude (FA) and area magnitude (AM) of scalp field potential, topography, and equivalent current dipole source localisation, comparing before and after two-level CES (high- vs. low-level) applied to the He-Gu acupoint. RESULTS: After a high-level CES, the positive FA and AM of the current efflux showed a significant increase at the early phase 34 ms, and significantly decreased at 45 ms in D1 SEPs. The negative FA and AM of the current influx were significantly increased at late phase 350 ms of the D5 SEPs. Only 36 ms, the z-axis position of dipole was significantly changed from (x: -15.9 mm, y: 29.6 mm, z: 43.9 mm) to (x: -12.9 mm, y: 29.4mm, z: 51.5mm) for the D5 SEPs. CONCLUSIONS: The high-level CES significantly attenuated the subsequent cortical activation (45 ms peak for D1 stimulation). Both low- and high-level CES significantly enhanced the late activities (226, 350 ms) in D5 stimulation. This may be explained by pain sensation change at the level of subcortical cingulate cortex induced by the site-dependent post-effect of CES. SIGNIFICANCE: This study showed cortical plasticity induced by conditioning somatosensory stimulation.     

孕妇产前心理状态与需求的调查

目的对孕妇产前心理状态及其影响因素进行调查和评定,以探讨心理因素对分娩方式的影响。方法用综合医院焦虑/抑郁情绪测定量表,采用调查问卷法。结果有焦虑/抑郁症状组与无焦虑/抑郁症状组剖宫产率分别为80%和30%,差异有非常显著性(χ2=25.25,P<0.01);两组产后出血和新生儿阿氏评分,差异也有非常显著性,对婴儿的哺乳喂养方式(母乳、混合、人工)两组亦存在显著性差异(χ2=7.36,P<0.05)。结论产前对有焦虑/抑郁障碍的孕妇进行科学、整体的护理,实施有效的心理干预,可以减轻甚至消除焦虑/抑郁情绪,使孕妇处于最佳身心状态,保障母婴平安度过分娩期。     

上海市闵行区性病门诊本地和外来病人的比较研究

目的分析和比较上海市闵行区性病门诊本地与外来病人的流行病学特征。方法对2001~2004年上海市闵行区3家设有标准化性病门诊的公立医院进行门诊病历的回顾性分析。结果外来人口约占全部性病门诊病人的50%,其中女性病例占18.2%,未婚者占23.8%,均高于本地同类人员的比例;外来病人年龄偏低,多重感染者比例较高;男女外来病人与本地病人的首诊原因和症状排位相同,均以淋病感染为主;外来病人随访率(81.2%)较本地病人低(86.0%)。结论性病门诊本地和外来病人在人口学特征、诊疗行为上存在差异,防制措施应有所不同和侧重。     

SYBR Green Ⅰ实时荧光定量RT-PCR测定猴免疫缺陷病毒RNA拷贝数方法的建立

.学者论坛·在动物实验中解决临床难题···························，·······································································……顾玉东(3)基因〕:程     

A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an arginine residue (C90R). No RET gene mutation was detected in this patient.     

Severe community-acquired pneumonia due to Legionella pneumophila Serogroup 6.

Legionella pneumophila is a common cause of sporadic community-acquired pneumonia, but culture-proven legionellosis is rarely diagnosed. There is no laboratory test for Legionnaires' disease that can detect all patients with the disease. Culture is the standard diagnostic method and should be initiated as soon as possible in suspected cases. We describe a rare case of community-acquired pneumonia caused by L. pneumophila serogroup 6. A 77-year-old man was admitted to a tertiary care hospital because of high fever, productive cough, and progressive dyspnea. Chest radiography showed bilateral pneumonia, which led to respiratory failure necessitating mechanical ventilatory support. Despite antibiotic therapy, his condition continued to deteriorate and acute renal failure also developed. Urine was negative for L. pneumophila. Culture of the sputum yielded L. pneumophila serogroup 6, although there was no elevation of the serum antibody titer. Pneumonia resolved gradually and he was extubated after treatment with levofloxacin followed by erythromycin. L. pneumophila other than serogroup 1 should be included in the differential diagnosis of patients with suspected atypical community-acquired pneumonia.