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。     

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.     

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。     

国产医用聚丙烯酰胺水凝胶对动物内脏器官影响的实验研究

目的对国产医用聚丙烯酰胺水凝胶(奥美定)进行动物的实验研究,以初步证明奥美定是安全的软组织填充剂。方法将56只日本大耳白兔随机分为实验组、对照组和空白组,实验组注射奥美定配制液,对照组注射生理盐水配制液,空白组不行任何注射。分别于注射后的第1、3、6、11、12个月做血常规及肝、肾功能检查,同时将兔的内脏组织行光镜和电镜观察。结果实验组:注射奥美定后1~6个月兔内脏的组织学观察有轻度改变,6个月后逐渐转为“正常”;血常规及肝、肾功能无明显影响。与对照组和空白组比较(P>0.01),差异无显著意义。结论初步认为奥美定是安全的软组织填充剂,但尚需进一步研究及长期的临床观察。     

1例子宫畸形致原发性痛经报告

李×,女,16岁,未婚,待业,初潮13岁(2000年4月),月经3～5/28～30 d,量中,2000年8月第4次行经时出现痛经,后进行性加重.2001年4月10日,月经来感痛经,4 d后疼痛加剧不能忍受3 h急诊入我院,入院查:T37℃、BP100/70 mmHg、心率90次/分,心肺听诊未发现明显异常,下腹压痛,反跳痛明显,处女膜完整,无性生活史,肛查扪及子宫不明显,扪及右附件包块约成人拳头大小,触痛明显.B超:右附件包块性质待查,BR:WBC 27×109/L、HB 120 g/L、尿HCG(-)拟诊右附件肿瘤(巧克力囊肿)破裂并感染,收住院急诊手术,术中发现盆腹腔内均被咖啡样物污染,量约400 mL,双子宫,右子宫增大约孕40 d大小,呈紫红色,右输卵管伞端粘连、壶腹部破裂且与右卵巢包裹在一起,包块约6 cm×6 cm×6 cm大小,左子宫,左附件正常,其父母双签字同意只作右附件切除,拒绝切除右子宫.     

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.