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。     

逍遥散治疗经前期综合征69例

逍遥散出自《太平惠民和剂局方》，由当归、白芍药、柴胡、茯苓、白术、炙甘草、薄荷、煨姜组成。经前期综合征为临床常见的妇科病症，笔者近年来采用逍遥散加减治疗经前期综合征69例，疗效满意，现报道如下。     

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.     

大鼠静脉窦高压致硬膜血管变化的研究

目的探讨大鼠静脉窦高压后硬膜血管变化及其静脉窦高压在硬脑膜动静脉瘘形成中的作用。方法体重200～250g的SD雄性大鼠110只,随机分为静脉窦高压组(85只)和假手术组(25只),将静脉窦高压组85只大鼠闭塞左侧横窦和上矢状窦前1／3,并吻合右侧颈总动脉和颈外静脉,制成静脉窦高压模型。假手术组大鼠单纯解剖相应的颈部血管和硬脑膜窦,但不行吻合或闭塞。术后90d,随机取7只静脉窦高压组大鼠和5只假手术组大鼠,行硬脑膜血管明胶墨汁灌注,观察硬膜血管的状况。结果术后90d静脉窦高压组和假手术组大鼠的硬膜血管数分别为(10.7±1.5)条／mm,(10.3±0.6)条／mm,差异无显著性。在静脉窦高压组中1只大鼠有硬脑膜动静脉瘘,其形态和结构与生理性动静脉短路类似。结论大鼠静脉窦高压一段时间后,颅内硬膜血管无明显增生。颅内硬脑膜动静脉瘘的形成很可能是由动静脉间的短路发展而来。     

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.     

甲状腺~(99)Tc~mO_4~-显像冷结节的临床诊断价值

目的　探讨甲状腺99TcmO-4 显像冷结节对不同性质甲状腺疾病的诊断价值。方法　采用静脉注射99TcmO-4 185MBq ,2 0min后甲状腺前位静态显像 ,采集总计数 1× 10 6。显像显示甲状腺结节局部放射性分布缺损或低于正常甲状腺组织则定性为冷结节。结果　 34 2例甲状腺99TcmO-4 显像发现冷结节 85例 ,发生率为2 4.9% ,85例冷结节中 ,37例 (4 3.5 % )为甲状腺瘤 ,15例为甲状腺癌 (17.6 % ) ,2 0例 (2 3.5 % )为结节性甲状腺肿 ,8例 (9.4% )为甲状腺炎 ,4例 (4 .7% )为单纯性甲状腺囊肿 ,1例 (1.3% )为甲状腺外肿物。结论　冷结节在甲状腺99Tcm O-4 显像时较为常见 ,且不同性质甲状腺疾病的冷结节及其周围组织有一定的特征性表现 ,因此99TcmO-4显像冷结节对甲状腺腺瘤、甲状腺癌、甲状腺囊肿、甲状腺炎等常见疾病具有较高的临床价值。