Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome.

X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand (CD40L) gene with normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE. Liver disease may occur as a clinical manifestation in XHIGM. This complication appears to increase with age. We report an 18-year-old male patient who had recurrent episodes of acalculous cholecystitis (AC) and sclerosing cholangitis (SC). The diagnosis of XHIGM was confirmed by the finding of CD40L expression < 1% of normal and a tyrosine 169 asparaginase (t526a) mutation in exon 5 (the tumor necrosis factor domain) of the CD40L gene. The patient had direct hyperbilirubinemia (direct bilirubin 5.5 mg/dL, total bilirubin 8.7 mg/dL), cholestasis (alkaline phosphatase 1133 U/L, gamma-glutamyl transferase 1019 U/L) and elevated transaminases (aspartate aminotransferase 70 U/L, alanine aminotransferase 101 U/L). Findings on abdominal ultrasound and abdominal computed tomography were compatible with AC. After the fourth episode of cholecystitis, cholecystectomy and liver biopsy were performed. Operative cholangiography revealed poor opacification of the hepatic duct and proximal common bile duct; the upstream intrahepatic bile ducts were not visualized. The biopsy specimen showed marked fibrosis of the portal areas. Enterococcus species was cultured from the bile. Children or adolescents with recurrent AC and SC should be evaluated for an underlying immunodeficiency syndrome such as XHIGM.     

Acute pancreatitis combined with acute Budd-Chiari syndrome as the initial manifestation of small cell lung cancer.

Tumor metastasis to the pancreas is a rare but recognized cause of acute pancreatitis. Autopsy series have reported a 24-40% of pancreatic involvement in small cell lung cancer. However, only a very few cases of tumor-induced acute pancreatitis have been described. Budd-Chiari syndrome complicating lung cancer is a rarely reported condition. We report a 68-year-old woman with extensive small cell lung cancer with the unusual initial presentation of both acute pancreatitis and acute Budd-Chiari syndrome. This patient suffered from progressive epigastralgia for 3 weeks. Severe epigastralgia with radiation to back and progressive jaundice developed 2 days prior to admission. After admission, the liver enlarged rapidly and the ascites increased markedly. Chest roentgenogram showed a mass lesion over the left lower lung field. Poorly differentiated carcinoma cells were found in ascites and bone marrow. The patient died on the ninth day of hospitalization before chemotherapy was initiated. Prompt diagnosis of extensive-stage small cell lung cancer may allow early chemotherapy treatment which favorably influences recovery when the pancreatitis is mild. Although prolonged survival might have been expected had this patient recovered from pancreatitis and received chemotherapy, diagnosis was delayed due to difficulty in immunohistochemical diagnosis of the tumor and the unusual clinical presentation. The use of stains employing antibodies against neurofilament and neuron-specific enolase cell antigens is important for early diagnosis of poorly differentiated metastatic tumor cells.     

Pneumocephalus after thoracoscopic excision of posterior mediastinal tumor.

Pneumocephalus is a very rare complication of video-assisted thoracoscopic surgery (VATS). A 66-year-old man developed pneumocephalus secondary to thoracoscopic excision of a neurogenic tumor in the posterior mediastinum. Pneumocephalus was diagnosed by brain computed tomography. Neurosurgical intervention was performed after conservative therapy had failed. The patient's condition had resolved without any neurologic sequelae 2 years later. When a patient has a relatively large amount of chest tube drainage and neurologic symptoms after VATS, the possibility of pneumocephalus due to cerebrospinal fluid leakage must be considered.     

中药熏洗治疗膝关节骨性关节炎的Meta分析

为运用循证医学方法对中药熏洗治疗膝骨性关节炎（OA）的临床疗效及安全性进行系统评价和Meta分析。全面收集了中药熏洗治疗OA的文献资料。在严格质量评价基础上，对研究结果进行定性分析。合并各篇优、良为阳性结果，中、差为阴性结果。利用RevMan4．1软件对多个研究结果的总体疗效进行固定效应模型的Meta分析，并进行敏感性分析。用漏斗图表示发表性偏倚。结果显示，中药熏洗治疗OA的效应值OR=2．68.95％可信区间为[1．82，3．95]；敏感性分析显示效应值稳定；漏斗图图形不对称；无中药熏洗不良反应的报道。表明中药熏洗治疗OA有一定的疗效，由于漏斗图提示存在发表性偏倚，加上现有临床研究存在的方法学问题，现在的研究结论有一定的局限性，欲得出公认的结论，尚有待进行设计严谨的多中心、随机对照试验。     

Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report.

Monoamine oxidase A gene promoter (MAOA-uVNTR) and catechol-O-methyltransferase V158M (COMT-V158M) gene functional polymorphisms are reported to be associated with impulsive-aggression, but a biological intermediate effect remains to be determined. This study assessed the association of these polymorphisms with cerebrospinal fluid (CSF) monoamine metabolites as endophenotypes. Ninety-eight Caucasian psychiatric subjects were assessed for Axis I and II diagnosis. Subjects were genotyped for the functional polymorphisms, MAOA-uVNTR and COMT-V158M. CSF was obtained by lumbar puncture. Relationships of the two polymorphism to monoamine metabolites: HVA, 5-HIAA, and MHPG were examined. The higher-expressing MAOA-uVNTR genotype was associated with higher CSF-HVA levels in males only (n = 46) (195.80 pmol/ml, SD = 61.64 vs. 161.13, SD = 50.23, respectively; P = 0.042). No association was found with diagnosis. COMT-V158M had no association with CSF monoamine metabolites. The association of MAOA-uVNTR with dopaminergic activity in males is a preliminary finding that needs to be replicated in a larger sample of Caucasian males and relationships sought with clinical phenotypes. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299:1/suppmat/index.html.     

儿童频繁瞬目征的病因及综合治疗

[目的]探讨儿童频繁瞬目征的发病原因及其治疗措施。[方法]随机抽取148例门诊频繁瞬目征患儿，对其生活习惯、眼部情况进行详细询问并进行病因分析及综合治疗。[结果]通过克服不良生活习惯、去除谤因、调节心理和综合治疗措施，148例频繁瞬目征惠患儿经2周～5周的治疗，115例患儿治愈，28例好转，5例无效。[结论]频繁瞬目征与玩电脑、看电视及偏食有一定关系，针对性综合治疗可获得较满意的疗效。     

硬膜外穿刺针外套管在腹腔镜小儿斜疝高位结扎术中的应用

目的探讨硬膜外穿刺针外套管在腹腔镜小儿斜疝疝囊高位结扎中的应用价值。方法2003年4月-2006年5月,我院对230例小儿斜疝手术应用硬膜外穿刺针外套管代替雪橇钩针实施腹腔镜疝内环口荷包高位结扎术。结果230例手术均获得成功,手术时间：单侧161例8-10 min,嵌顿疝39例15-20 min,双侧30例16-20 min;术后未见有阴囊水肿及睾血疼痛及缺血坏死。术后随访2-6个月111例,6-12个月52例,12-24个月37例,24-36个月30例,无复发。结论硬膜外刺针外套管可替代小儿疝囊结扎专用的雪橇钩针,简便,经济,适合在所有基层医院推广。     

氯硝柳胺乙醇胺盐粉剂的应用

消灭钉螺是控制和阻断血吸虫病传播途径、防止血吸虫感染的最有效措施之一,而化学灭螺仍然是我国目前控制和消灭钉螺的主要手段。1953年发现五氯酚钠后,由于其易溶于水,使用方便,杀灭钉螺效果好,很快得到了大规模应用,是国内外使用最广泛的杀螺剂[1]。但由于五氯酚钠对人、畜及     

“黄风湿”系列疗法——火针封闭治疗痛风石的疗效观察

痛风是一种由嘌呤代谢紊乱所致的疾病,日久不愈、反复发作则逐渐形成痛风石沉积。常规治疗对痛风石效果不明显。黄再军医院采用火针封闭疗法治疗痛风石36例,经临床观察治愈率为69.4%,显效率为25.0%,有效率为5.6%,总有效率达100%。