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131.
本文根据Svennerholm和蒋谷人等的方法略加改良,测定了蚌埠地区113例正常人,71例恶性肿瘤患者和82例非肿瘤疾病患者血清脂质结合唾液酸(LSA)的含量。正常值为12.4mg/dl(SD=±3.6mg/dl),71例不同肿瘤患者的平均值为28.2mg/dl(SD=±9.7mg/dl),阳性率为88.7%,82例非肿瘤疾病患者的平均值为16.82mg/dl(SD=±5.4mg/dl),假阳性率为17%。方法的灵敏度,重复性(平均CV=3.6%)和回收率(平均回收率=101.4%)测定结果是满意的。本研究的初步结果表明,血清LSA测定对肺癌、白血病、胃癌和食管癌具有一定的临床诊断价值。 相似文献
132.
133.
Rose-Mary Boustany 《American journal of medical genetics. Part A》1992,42(4):533-535
My experience with more than 80 cases of the late infantile and juvenile forms of the neuronal ceroid-lipofuscinoses over the last 5 years has led to the following realizations. The 2 variants are neurologically distinct entities and probably are the result of different genetic defects. Treatment includes supportive measures and anticonvulsant medication. Therapy for behavioral and psychiatric disturbances in the juvenile type proves to be particularly challenging as neuroleptic medications tend to worsen parkinsonian like symptoms. Neuropathologic and neuro radiologic explanation of clinical symptomatology correlates best with neuronal loss and not neuronal storage. There is a paucity of neuropathologic documentation of these 2 types; additional reports are encouraged. 相似文献
134.
Enza-Maria Valente Anjum Misbahuddin Francesco Brancati Mark R Placzek Barbara Garavaglia Sergio Salvi Andrea Nemeth Charles Shaw-Smith Nardo Nardocci Anna-Rita Bentivoglio Alfredo Berardelli Roberto Eleopra Bruno Dallapiccola Thomas T Warner 《Movement disorders》2003,18(9):1047-1051
The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases. 相似文献
135.
In a cohort of 3383 men aged 53 to 74 in the Copenhagen Male Study we investigated the association between ischaemic heart disease (IHD) and the Lewis blood group, assigned to chromosome 19. Among men with the Le(a-b-) phenotype, 8% had a history of non-fatal myocardial infarction, among others the frequency was 4%. The corresponding odds ratio was (95% confidence interval: CI) 1.9 (1.2-3.0) P < 0.01, men with Le(a-b-) had a risk-factor profile and pattern of disease resembling that of Reaven's syndrome X. In a subsequent prospective study 343 men with arteriosclerotic stigmas were excluded. The men had their morbidity and mortality recorded over the next 4 years. One-hundred-and-one men suffered IHD; 26 dying from IHD. In total 162 men died. Men with Le(a-b-) had an increased risk of death from IHD compared with others. Adjusted for age, relative risk (RR) (95% CI) was: 4.4 (1.9-10.3), P < 0.001, and for all causes of mortality: RR = 1.6 (1.0-2.6), P < 0.05. Men with the Le(a-b-) phenotype had an increased risk of an IHD event compared to men with other phenotypes (RR = 1.6 (0.9-2.8), P = 0.10) and a significantly higher IHD case fatality rate (RR = 2.8 (1.5-5.2), P = 0.01). The finding that the Le(a-b-) phenotype is a genetic marker of IHD risk may have implications in terms of prevention. The Le(a-b-) phenotype may also contribute to providing an explanation for the substantial ethnic differences found in the incidence of IHD. The similar risk-factor profile and pattern of disease found between Le(a-b-) men and individuals with Reaven's syndrome X is hypothesized to be due to a close genetic relationship on chromosome 19. 相似文献
136.
对57例内膜刮出组织和宫内流出组织均未检出绒毛膜绒毛。用抗血清标记绒毛滋养层的人绒毛膜促性腺激素(HCG)、人胎盘催乳素(HPL)和妊娠特异糖蛋白(SPI),结果18例被标记,37例未被标记。临床证明未被标记的37例为异位妊娠。表明用激素标记子宫内膜可提高异位妊娠的诊断率。 相似文献
137.
138.
肺内小病灶CT表现及其病理基础的研究:附76例分析 总被引:9,自引:0,他引:9
本文对76例肺内小病灶(直径≤3cm)病例进行了CT-病理对照研究。结果表明,短毛刺征,深分叶征、棘状突起征、空泡征、血管集束征,胸膜凹陷征等对于诊断周围型小肺癌有重要临床价值;而尖角征、局限性胸膜肥厚粘连对诊断良性病灶有意义。本文重点讨论了血管集束征的定义,CT表现及病理基础;并就有争议的胸膜凹陷征提出一些粗浅的看法。旨在提高肺内小病灶良恶性诊断的准确率 相似文献
139.
目的:探讨Mirizzi综合征的发病机理、临床表现、影像学诊断及术前诊断的重要价值.方法:查阅了大量的相关资料文献,进行对比、分析、总结归纳.结果:Mirizzi综合征是胆道系统感染的一种特殊类型,临床少见,极易造成漏诊和误诊,在术中造成不必要的胆道损伤和胆总管探查,影像学检查在诊断此综合征方面有较多的独特优势.结论:Mirizzi综合征术前可以通过影像学检查尤其是超声检查明确诊断. 相似文献
140.