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。     

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。     

晶体玻璃体视网膜联合手术治疗复杂性视网膜脱离

目的探讨玻璃体视网膜手术（ｖｉｔｒｅｒｅｔｉｎａｌｓｕｒｇｅｒｙ，ＶＲ术）联合晶体切除／超声粉碎的效果。方法对８１例（８１只眼）应用晶体玻璃体视网膜联合手术（ｌｅｎｔｉｃｕｌａｒ－ｖｉｔｒｅｏｒｅｔｉｎａｌｓｕｒｇｅｒｙ，ＬＶＲ术）治疗的复杂性视网膜脱离进行回顾性分析。结果解剖性成功者６４只眼（７９．０１％），功能性成功者４５只眼（５５．５６％）；手术成功率显著降低的原因是前部增殖性玻璃体视网膜病变（ｐｒｏｌｉｆｅｒａｔｉｖｅｖｉｔｒｅｏ－ｒｅｔｉｎｏｐａｔｈｙ，ＰＶＲ）（成功率４２．８６％，Ｐ＜０．０１）和术中／术后眼内出血（成功率５８．８２％，Ｐ＜０．０２５）。结论ＬＶＲ术是治疗复杂性视网膜脱离的主要方法；显著影响手术预后的因素是前部ＰＶＲ和术中／术后眼内出血。     

混合Poisson分布及其应用：疾病的统计分布（五）

本文讨论了混合Ｐｏｉｓｓｏｎ分布的性质、应用条件、参数的估计及混合Ｐｏｉｓｓｏｎ分布阶数的确定，指出混合Ｐｏｉｓｓｏｎ分布可用于混合样本的判别归类，并用Ｂａｙｅｓ的思想导出其判别归类方法。模拟试验结果表明：当混合Ｐｏｉｓｓｏｎ分布中各部分的比例相差不大，而各部分的均值相差较大时，抽样效果和拟合效果越好，所得到的估计值越接近理论值；反之效果越差。     

慢性缺氧大鼠肺组织钙调素活性研究

为探讨钙调素在慢性缺氧性肺动脉高压发病中的作用，将４０只Ｗｉｓｔａｒ大鼠随机分为四组，Ｉ组为正常对照组，不接受任何处理。Ⅱ、Ⅲ、Ⅳ组为实验组，分别间断缺氧１、２、３周，而后采用火焰原子吸收分光光度法及磷酸二酯酶法测定四组大鼠肺组织Ｃａ＾２＋含量及ＣａＭ活性。