Comparison of Marker Intervals and Number of Sib Pairs Used for Linkage Analysis on Simulated Nuclear Family Data

Using a two‐stage global scan design, we analyzed general population replicates 1 and 42 of the Genetic Analysis Workshop (GAW) 12 simulated data set using three methods: revisited Haseman‐Elston (HER), maximum likelihood variance estimation (ML), and variance components (VC). Three marker densities, 5‐, 10‐, and 15‐cM intervals, were examined in the first‐stage scan. We found that the 10‐cM interval appears to be the most cost‐effective approach in genotyping without sacrificing power when using a first stage significance level of 0.01. Subsequently, we performed the second‐stage scan at 1‐cM intervals for those putative positive regions identified in the first‐stage scan at a significance level of 0.01. We also compared the power to detect linkage using different numbers of sib pairs for a genome‐wide scan at a 10‐cM interval and found that power decreases nonlinearly as the number of sib pairs decreases. © 2001 Wiley‐Liss, Inc.     

Ganglioglioma: A clinicopathological study of 10 cases

The clinical, radiological, and pathological features in 10 cases of ganglioglioma are described. The clinical data were derived from the patients' medical records, including a review of the age, sex, details of the presenting symptoms, radiological imagings, surgical intervention, and the clinical outcome. Age ranged from 1 to 66 years (mean 29); there were five males and five females. The tumors were located in the fronto-medial, bifrontal, temporal, temporo-basal, temporo-parieto-occipital, and parietal lobes; the 3rd ventricle; the cervicothoracic spinal cord; and the conus medullaris. The presenting symptoms were focal seizures, headaches, hemiparesis, paraparesis, and tetraparesis. In four patients, gross total resection was achieved and in the remaining six patients only subtotal resection was possible. Tumor recurrence occurred in three patients, 1 year, 14 months, and 2 years after the first operation. The histopathologic appearance of gangliogliomas showed a broad variation of the neuronal, glial, and stromal component. Studying proliferation characteristics, labeling for Ki-67 ranged from 0 to 13.7% (mean 4.1) and for PCNA from 0 to 32.1% (mean 20.4). Due to their favorable prognosis, early recognition and correct diagnosis are important in order to avoid progressive neurological deficits and unnecessary aggressive therapy. The application of immunohistochemistry for both neuronal (synaptophysin, NSE, NFP) and astrocytic (GFAP) cell markers, as well as proliferation markers, are recommended in the diagnostic setting for gangliogliomas. The treatment of choice is total surgical resection. The role of radio- and chemotherapy is still controversial.     

氯丙醇对大鼠的毒性研究

进行氯丙醇对大鼠毒作用研究 ,并进行氯丙醇暴露对健康影响评价的生物效应标志物探讨 ,为进行人群氯丙醇暴露对健康的影响评价提供科学依据。选用健康雄性断乳SD大鼠 1 76只 ,随机分为 8组 ,经口灌胃给予 0、0 2 5、0 5、1 0、2 0、4 0、8 0、1 6 0mg kg的 3 氯 1 ,2 丙二醇 (3 MCDP) 90天 ,进行体重、食物利用率、血液学指标、血生化指标、尿液中N 乙酰 β D 氨基葡萄糖苷酶 (NAG)、γ 谷胺酰转肽酶 (GGT)和总蛋白、精子数目、精子存活率和畸形率、睾丸组织中乳酸脱氢酶 (LDH)和乳酸脱氢酶同工酶 X(LDH X)、脏体比及其病理组织学测定和分析。结果表明 ,不同暴露剂量的氯丙醇对动物体重、食物利用率、血红蛋白、红细胞、白细胞、血丙氨酸氨基转移酶 (AST)、天冬氨酸氨基转移酶 (ALT)、肌酐、尿素氮、血清碱性磷酸酶 (ALP)、乳酸脱氢酶 (LDH)、总蛋白、白蛋白、尿GGT酶和总蛋白及睾丸LDH酶均未见显著影响。在 4 0、8 0和 1 6 0mg kg剂量组 ,动物尿N 乙酰 β D 氨基葡萄糖苷酶 (NAG)活性显著增加 ,肾体比增大 ,并出现肾毒性病理改变 ,精子数目也降低。在 8 0和 1 6 0mg kg剂量组 ,精子存活率和睾丸LDH X显著降低 ,睾丸和附睾出现病理改变 ,3 MCDP无致精子畸变作用。由此可见尿液中NAG酶活性和精子     

鱼腥草的有效成分、药理作用及临床应用的研究进展

鱼腥草中含有癸酰乙醛、癸醛、月桂醛及甲壬酮等成分，其中癸酰乙醛具有抗病原微生物活性．药理研究证明鱼腥草具有抗菌、抗病毒、增强机体免疫、抗炎等作用，故在呼吸科、五官科及消化科疾病中都有广泛的应用．     

血清肿瘤标志物联合检测在肺癌诊断中的应用

目的：探讨血清19片段角蛋白((2YFRA21-1)、神经元特异性烯醇化酶(NSE)、癌胚抗原((CEA)、β2微球蛋白(β2-MG)联合检测提高肺癌的阳性率，为临床提供早期诊断、治疗的依据。方法：采用电化学发光和免疫比浊法检测155例肺癌、72例肺良性疾病和50例正常人血清CYFRA21-1、NSE、CEA和β2-MG的水平。结果：肺癌4项标志物联合检测阳性率明显高于肺良性疾病组和健康人正常对照组，其中CYFRA21-1阳性率以鳞癌最高(77．7％)，与其它型肺癌存在显著差异。NSE阳性率以小细胞性肺癌最高(78．4％)，与其它型肺癌存在显著差异。结论：CYFRA21-1、NSE、CEA、β2-MG是诊断肺癌有价值的肿瘤标志物组合，有助于提高肺癌诊断的阳性率、特异性和准确性。     

Relationship between apoptosis and proliferation in secondary tumors of the brain

A correlation between apoptosis and proliferation in astrocytomas and oligodendrogliomas, but not in glioblastomas, has been previously reported. An index for apoptosis and proliferation was established for each tumor in a series of 20 brain metastases, and its correlation was studied using the Spearman rank correlation test. Apoptosis index (AI) ranged between 1 and 78% (mean ± SD: 11.48 ± 16.4). Proliferation index (PI) ranged between 2.4 and 21% (mean ± SD: 8.23 ± 4.8). When the relationship between AI and PI was studied, a clear correlation was found (r: 0.8965, 95% CI: 0.74–0.95; P < 0.0001). Therefore, it is concluded that a clear correlation exists between proliferation and apoptosis in secondary tumors of the brain.     

生物学标志在产肠毒素性大肠埃希菌同源克隆鉴定中的应用

目的研究多方法、多生物学标志在产肠毒素性大肠埃希菌同源克隆鉴定中的作用。方法在毒力基因检测和分型基础上，首次采用质粒分析法结合多位点酶电泳法，对ＥＴＥＣ同源克隆进行了综合研究。结果７个毒力基因型的２０６株散发ＥＴＥＣ菌株经质粒图谱分型后，共可分成９３个质粒型，有１４０株ＥＴＥＣ具有独特的基因型；进一步用多位点酶电泳分型，２０６株ＥＴＥＣ可被分成１４８个ＥＴ型，３种方法综合，共有１９０株ＥＴＥＣ具有独特的基因型。结论多方法、多生物学标志在同源克隆鉴定中能提供更多、更可靠的信息。     

双抗体夹心法检测胆管癌患者血清中胆管癌相关抗原的临床意义

胆管癌相关抗原（ＣＣＲＡ）是我们从人胆管癌组织中提取的一种新的肿瘤标志物。建立了检测ＣＣＲＡ的ＥＬＩＳＡ方法，检测了４０例正常人及２６８例良恶性疾病病人血清的ＣＣＲＡ浓度，后者包括胆管癌３６例、原发性肝癌４０例、胰腺癌２６例、胃癌３１例、结直肠癌３４例、肺癌１７例、肝硬变２０例、胆石症４０例及胃溃疡２４例。结果显示：４０例正常对照组的血清ＣＣＲＡ浓度为（１４．３８±７．３４）μｇ／ｍｌ（ｘ±ｓ），正常上限为２８．９５μｇ／ｍｌ（ｘ＋２ｓ）；血清ＣＣＲＡ诊断胆管癌的敏感性是７７．７８％，明显高于其它肿瘤组（０～２５）％（Ｐ＜０．００１），特异性是（７５～１００）％。认为对于胆管癌的诊断，ＣＣＲＡ可能是一种较特异的肿瘤相关抗原。     

Changes of hepatic and systemic haemodynamics following somatostatin administration in patients with hepatitis B-related cirrhosis

Abstract Somatostatin has been used to effectively control acute variceal haemorrhage, with conjectured mechanisms on portal hypertension. We, therefore, evaluated the effects of somatostatin on hepatic and systemic haemodynamics in 15 patients with hepatitis B-related cirrhosis and portal hypertension. All patients received an intravenous, continuous infusion of somatostatin 250 μg/h, following a bolus injection of 250 μg. In systemic haemodynamics, the mean arterial pressure (MAP) increased ( P < 0.05), associated with a reflex bradycardia within 3 min following bolus injections, compared with basal values. The right atrial pressure, pulmonary capillary wedge pressure, inferior vena cava pressure, cardiac index, and systemic vascular resistance remained unaffected after drug infusion. In hepatic haemodynamics, the wedge hepatic vein pressure remained unchanged after drug administration. However, there was an increase in free hepatic vein pressure (FHVP; P < 0.05), and a trend toward a decrease in the hepatic vein pressure gradient (HVPG; P = 0.063), within 3 min after bolus injection. Furthermore, the hepatic blood flow decreased significantly at 10 and 30 min after somatostatin infusion ( P < 0.05). The effective sinusoidal perfusion assessed by indocyanine green infusion also decreased progressively at 10 min ( P = 0.057) and 30 min ( P < 0.05). We concluded that somatostatin, at the dose used in this study, caused a transient and bolus-related vasoconstrictive effect, resulting in increases in MAP and FHVP, a decrease in heart rate, and a trend toward lower HVPG. In addition, somatostatin reduced the hepatic blood flow and effective sinusoidal perfusion which may be hazardous to cirrhotic patients during variceal haemorrhage.     

A breathing lung phantom for 81mKr lung ventilation studies its use in dosimetry and quality control

The construction of a breathing lung phantom that can be used to measure the amount of radioactive gas in the lungs as well as to determine the absorbed dose is described. For a lung ventilation study that consists of 6 views of 300 kents each, an effective dose equivalent of 50 Sv was calculated. The phantom is also suitable for comparison of different generator systems.