一个RET原癌基因Met918Thr突变的多发性内分泌腺瘤病Ⅱb家系报道

目的 检测一个多发性内分泌腺瘤病(MEN)Ⅱb家系的RET原癌基因突变。方法 提取患者及其父母的外周血基因组DNA，对RET原癌基因第16外显子进行聚合酶链反应(PCR)，将PCR扩增产物进行直接基因测序和限制性内切酶分析。结果 检测到患者RET原癌基因第16外显子918密码子存在ATG(Met)／ACG(Thr)点突变，而在患者父母中未检测到该突变。结论 通过对MENⅡb患者及其父母的基因筛查发现，该患者点突变是杂合子错义突变。该疾病的诊断达到了基因水平。     

大肠重复癌MMR、p53、Bax、PCNA表达及微卫星不稳定性研究

目的探讨微卫星不稳定性 (MSI)在大肠重复癌与单发癌中的变化规律 ,及MMR、p5 3、Bax、PCNA表达与MSI的关系。 方法采用免疫组化、PCR SSLP法对 38例大肠重复癌患者的 5 1处癌灶及 35例单发大肠癌分别进行MMR、p5 3、Bax、PCNA表达的检测和 5个微卫星位点MSI检测。结果重复癌组复制错误阳性率为 5 3% (2 7/ 5 1) ,单发癌组为 17% (6 / 35 ) ,差异有显著性意义 (χ2 =11 2 5 ,P <0 0 1)。重复癌组中 ,RER 与MMR表达缺失有密切的相关性 ;RER 与 p5 3表达呈负相关 ;RER 组PCNA标记指数显著低于RER-组 ;RER 与低分化、近端大肠癌密切相关。结论MSI在大肠重复癌的发生上起着重要作用 ,MSI可作为预测大肠重复癌发生的重要标志。     

76例轮状病毒性肠炎临床症状观察

目的 :分析 76例轮状病毒 (RV)性肠炎患者的临床症状。方法 :对 76例不同年龄组 RV肠炎患儿的临床症状进行回顾性分析。结果 :1同时出现呼吸系统症状并伴流涕、鼻塞、咳嗽、气促 59例 ;支气管炎 19例 ;肺炎 5例。 2出现抽搐7例。 3生化检查结果门冬氨酸氨基转移酶 (AST)明显增高 76例 ;肌酸激酶 (CK)增高 52例 ;丙氨酸氨基转移酶 (AL T)轻度增高 48例 ;乳酸脱氢酶 (L DH)增高 13例。 4X线胸片肺纹理增粗 8例 ;双肺斑片影 4例。 5心电图表现窦性心动过速 4例 ,T波改变 1例。结论 :RV感染可造成病毒血症 ,且可呈多系统播散 ,使机体各脏器组织损伤 ,致婴幼儿发病。故要对这一弱小群体实行早期预防保健 ,有关部门应引起重视     

增龄过程中心脏径限的变化及其影响因素

为探讨年龄增长及伴随的一些生理性变化对心脏径限的影响,对300余例20—81岁(平均46±16岁)的正常成人进行了超声心动图研究。多元逐步回归及协方差分析表明,左室壁厚度随年龄俱增,而左室舒张未期内径变化不大;室间隔/左室后壁厚度比值亦渐有增长,反映了室间隔的随龄增长稍快于左室后壁,故在增龄过程中,左室流出道稍有缩小;左房、主动脉根部和右室内径均有随年龄而增长的变化。二尖瓣舒张期 EF 斜率随年龄增长渐有下降,可能反映了左室顺应性的降低及二尖瓣弹性的减退。此外,一些心脏测值有性别差异,不少径限尚与体格大小或血压水平有相关关系。对于不同年龄组间心脏径限差异的原因,以及心脏径限彼此间的关系进行了分析和讨论,认为在临床上评价心脏径限正常与否和异常程度时,应考虑年龄、性别、体格大小、血压等因素的影响。     

Cerebrospinal fluid cells in multiple sclerosis and other neurological diseases: an immunocytochemical study

Summary Determinations of mononuclear cell subsets in cerebrospinal fluid (CSF), using monoclonal antibodies against surface antigens which identified pan T-cells, helper/inducer T-cells, cytotoxic/suppressor T-cells and Ia-positive cells, were performed in patients with multiple sclerosis (MS), other neuroimmunological diseases (NID), infectious diseases (INF) of the central nervous system and with other neurological diseases. Whereas there was an elevated helper T/suppressor T ratio in CSF of patients with NID (Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, cerebral vasculitis), no other significant differences could be detected between the different groups of patients. Our results suggest that analysis of these mononuclear cell subsets in CSF is not helpful in discriminating between MS and other neurological diseases and that in MS patients changes in disease activity are not clearly indicated by fluctuations in the different CSF cell subsets. Further studies will be needed to confirm our findings in NID patients and to understand the diagnostic and theoretical implications.     

Fetal behavior in multifetal pregnancies studied by four-dimensional sonography

Rapid improvements in the capacity of data processing due to technological breakthroughs in processor engineering is the basis of spatial imaging. Spatial imaging is the main benefit of three-dimensional sonography and it is used for visualization of fetal anatomy in three dimensions. Modern machines are capable of performing spatial imaging in near real time, called four-dimensional sonography. Four-dimensional sonography in multifetal pregnancies can be used for detection and evaluation of intertwin contacts, because it allows simultaneous visualization of both fetuses and assessment of their motor activity. The main benefits of four-dimensional sonography include: accurate recognition of an isolated motor activity of a single fetus; distinguishing between spontaneous and stimulated motor activity; and spatial visualization of the intertwin area.     

体外膜肺联合血液滤过治疗肺肾衰竭的实验研究

目的 观察体外膜氧合器（ECMO）联合高容量血液滤过（HVHF）对急性呼吸窘迫综合征（ARDS）、急性肾功能衰竭（ARF）的治疗作用。 方法 采用实验犬32只，随机分为A、B、C、D 4组。静脉注射油酸复制ARDS模型及双侧输尿管结扎复制急性肾功能衰竭模型。A组用ARDS呼吸机治疗；B组ARDS用ECMO治疗；C组ARDS＋ARF用HVHF治疗；D组ARDS＋ARF用ECMO联合HVHF治疗。监测血气、血流动力学以及血生化等指标。 结果 治疗后B组氧分压（PaO2）逐步上升，在治疗4 h后高于A组[（95.58±8.14） 比（82.79±12.37） mm Hg，P < 0.05]； C组PaO2治疗中较成模时无明显改善；D组PaO2呈逐渐上升趋势，在各时间点均高于C组（P < 0.05）。各组血流动力学指标在治疗中保持稳定。C、D组HVHF治疗后Scr、BUN明显降低[C组：Scr (320.89±65.42) 比(655.04±181.22) μmol/L，BUN (20.42±6.65) 比（41.53±10.59）mmol/L；D组：Scr (334.15±45.97)比（697.48±101.66） μmol/L，BUN (19.12±6.39) 比（39.10±11.60） mmol/L，P均< 0.01]。 结论 ECMO可以有效地改善ARDS低氧血症，联合HVHF可以提供肺肾功能联合支持。     

Surgical treatment of multiple knee ligament injuries in 44 patients: 2–8 years follow-up results

The purpose of the study was to evaluate the mid-term results of surgical treatment in different groups of patients with multiple knee ligament injuries. Review of our patients’ records revealed that 48 acute and chronic patients were surgically treated for combined knee injury. Due to severe capsular damage in these injuries, open techniques were used. In our treatment protocol, avulsed ligaments and tears of the posterolateral and posteromedial corner were repaired if possible, whereas midsubstance tears of cruciate ligaments and chronic cases were reconstructed with autografts. Postoperatively, an accelerated program of rehabilitation was introduced, aiming to progressively mobilize the joint and improve muscle endurance. For the follow-up evaluation we designed a protocol composed of two parts. In the first part, anatomical lesions were recorded and in the second part, clinical evaluation was performed using the Lysholm score, the Tegner rating system, the IKDC evaluation form, and the KT1000. Student’s t tests and chi-square tests were used for data analysis. Forty-eight patients (mean age 28.6±11.9 years; 41 males) were classified according to the specific anatomical structures involved. Group A included 12 anterior cruciate ligament (ACL) and medial structure injuries, group B included 11 ACL or posterior cruciate ligament (PCL) ruptures combined with posterolateral injuries, and group C consisted of 25 knee dislocations (ACL and PCL ruptures which might be combined with damage of the collateral ligaments). Thirty-eight patients were surgically treated during the acute phase and ten patients were treated chronically. Forty-four patients (91.6%) were followed up at a mean of 51.3±29.9 months. Average Lysholm score was 87±12.3; average Tegner score was 5.09±2.19 before accident and 4.34±2.12 in re-examination; IKDC score was A in 10 cases, B in 22, C in 6, and D in 6. The mean range of motion was 129.9°±12.5°. The average loss of extension and flexion were 1.6°±2.5° and 7.6°±7.9°, respectively. The side-to-side difference in corrected anterior and posterior translation in quadriceps neutral angle and in anterior translation in 30° angle was <3 mm for about 65% of our patients. Surgical treatment of multiple knee ligament injuries, using autografts, provided satisfactory stability, range of motion, and subjective functional results. However, despite the improvement of the quality of life, the preinjury patients’ activity level was not fully obtained in re-examination. Patients underwent surgical treatment during the acute phase had better scores in several points, but finally there was no statistical significance between acute and chronic patients. Moreover, no statistically significant differences were observed among the groups with specific damaged anatomical structures.     

多发性骨髓瘤合并肾功能不全38例临床和预后分析

目的研究多发性骨髓瘤合并肾功能不全的临床特点及肾功能可逆性的相关因素和生存相关因素。方法回顾性分析1999-01~2003-12北京协和医院收治的91例初治多发性骨髓瘤及其中38例多发性骨髓瘤合并肾功能不全患者的临床资料。结果91例初治多发性骨髓瘤中有38例(41·8%)合并肾功能不全。合并肾功能不全的患者病程进展更快,贫血更严重,血乳酸脱氢酶(LDH)和β2-微球蛋白(β2-MG)质量浓度更高,以及尿蛋白量更多,同时对化疗的反应更差及生存时间更短。其中34·2%的患者肾功能不全是可逆的,血肌酐和LDH是肾功能可逆的独立预测因素。肾功能可逆患者的生存时间与肾功能正常患者的生存时间比较差异无显著性意义。Cox生存多因素分析发现肾功能可逆性(B=1·294,EXP(B)=3·647,P=0·001)是与生存惟一相关的因素。结论肾功能不全是多发性骨髓瘤常见并发症,相当一部分患者的肾功能可以恢复正常,血肌酐水平和LDH水平是肾功能可逆的重要因素,肾功能可逆性是独立的生存预后因素。     

多发性硬化皮质脊髓束的扩散张量纤维束成像定量研究

目的利用扩散张量纤维束成像(DTT)定量研究复发-好转型多发性硬化(RRMS)患者的皮质脊髓束分数各向异性(FA)值与正常志愿者之间的差异及其与扩展病残状态评分(EDSS)的相关性。方法对36例正常志愿者和64例RRMS患者进行扩散张量成像检查,重组出皮质脊髓束,计算出该纤维束的平均FA值,比较RRMS组与对照组之间是否存在差异,研究该指标与EDSS和锥体束评分的相关性。结果正常志愿者的皮质脊髓束FA值(男:0.501±0.026,女:0.493±0.024,左侧:0.500±0.031,右侧:0.494±0.024),无性别和侧别差异(P值均>0.05)。RRMS患者皮质脊髓束的FA值(0.472±0.037)明显低于对照组(0.497±0.028),差异有统计学意义(P<0.01)。脑型(0.469±0.038)与脊髓型(0.476±0.035)RRMS患者的皮质脊髓束FA值之间差异无统计学意义(P>0.05)。RRMS患者皮质脊髓束FA值与EDSS(平均3.0分)(r=-0.193,P<0.05)和锥体束评分(平均2.0分)(r=-0.218,P<0.05)存在弱相关性,其中,脑型患者的皮质脊髓束FA值与EDSS(平均3.1分)(r=-0.273,P<0.05)和锥体束评分(平均2.1分)(r=-0.268,P<0.05)的相关性较高,而在脊髓型患者的皮质脊髓束FA值与EDSS(平均2.8分)和锥体束评分(平均1.9分)均无显著相关性(r值分别为-0.080和-0.115,P值均>0.05)。结论RRMS患者皮质脊髓束的FA值存在明显异常,该指标可用作评价脑型RRMS患者的临床功能状态。