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51.
Sheng-Chieh Lin Shyh-Dar Shyur Yi-Chun Ma Li-Hsin Huang Hung-Chang Lee Wen-I Lee 《台湾医志》2005,104(6):421-426
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. 相似文献
52.
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. 相似文献
53.
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. 相似文献
54.
55.
Gil Zalsman Yung-yu Huang Jill M Harkavy-Friedman Maria A Oquendo Steven P Ellis J John Mann 《American journal of medical genetics. Part B, Neuropsychiatric genetics》2005,(1):100-103
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. 相似文献
56.
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 总被引:3,自引:0,他引:3
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。 相似文献
57.
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 相似文献
58.
59.
支气管结核纤维支气管镜下局部清理、注药与联合微波治疗的疗效比较 总被引:4,自引:0,他引:4
支气管结核患者由于支气管局部的肉芽组织增生、溃疡、干酪性坏死、管腔狭窄阻塞等改变,虽然使用强有力的全身抗痨方案治疗,亦很难将其治愈,常常迁延不愈,局部结构组织破坏明显,引起永久性狭窄、闭塞,导致肺不张、毁损肺等严重的并发症。全身抗痨结合纤维支气管镜清理支气管局部的增生肉芽、坏死组织后注入异烟肼、链霉素的方法可使疗效明显提高。近年来微波技术已逐渐应用于通过纤维支气管镜治疗多种气道疾病。现将我院近5年来确诊的支气管结核用纤支镜局部病灶清理、注抗痨药治疗与同时联合微波热灼治疗的疗效进行分析、报告如下。 相似文献
60.
目的 探讨急性胰腺炎与血浆维生素C、维生素E和 β 胡萝卜素的关系。 方法 采用分光光度比色分析法检测 6 8例急性胰腺炎和 4 0例健康献血员血浆三种维生素含量。结果 急性胰腺炎组维生素C、维生素E、β 胡萝卜素含量较对照组显著降低 (P <0 .0 1) ,且随着禁食时间的延长呈逐渐降低趋势。 结论 急性胰腺炎时患者体内的氧化和抗氧化系统平衡失调 ,补充抗氧化维生素有助于病情的恢复。 相似文献