热休克蛋白70基因 rs1008438多态性与高原肺水肿的相关性

目的：探讨热休克蛋白（HSP）70基因启动子区 rs1008438位点单核苷酸多态性（SNP）与高原肺水肿（HAPE）之间的关系。方法采用PCR‐DNA直接测序法检测100例HAPE组、200例健康对照组个体基因组rs1008438位点的基因分布,分析不同基因型与HAPE的关系;运用ELISA法检测不同基因型HAPE组和健康对照组白细胞细胞质和细胞核HSP70蛋白含量变化;应用蛋白质芯片技术和 EVIDENCE180全自动芯片仪分析 TNF‐α、IL‐1β、IL‐6表达水平。结果 HAPE组,健康对照组rs1008438的TT、GT、GG的基因型频率分别是76．0％、20．0％、4．0％,93．0％、6．5％、0．5％。统计处理显示,HAPE组TT基因型频率明显低于健康对照组（P＜0．05）;GT、GG基因型患 HAPE的危险性是 TT基因型的4．195倍,G等位基因相对 T等位基因也能明显增加 HAPE的发病风险（OR＝4．178）;ELISA检测结果显示,不同基因型 HAPE组 HSP70含量均高于健康对照组,且HSP70细胞核／细胞质比值TT基因型高于GT／GG基因型;蛋白质芯片检测表明,HAPE组血清中的TNF‐α、IL‐1β、IL‐6表达水平均明显高于健康对照组。结论 rs1008438位点多态性与 HAPE易感性相关,这种相关性可能是由于突变型在基因转录水平通过影响启动子活性而增强HSP70表达,从而导致HAPE的发生。     

一例染色体复杂易位致胎儿多发畸形的遗传学诊断

目的: 对一例染色体复杂易位致多发畸形胎儿进行遗传学分析和诊断。方法: 对一例多发畸形胎儿行G显带染色体核型分析、单核苷酸多态性微阵列（SNP array）及荧光原位杂交（FISH）检测。胎儿父母行外周血染色体核型分析及FISH检测。结果: 胎儿的羊水染色体核型为46,XN,t（12;13）（q22;q32）。SNP array显示胎儿存在1q42.13q44重复（20 192 kb）及15q26.1q26.3缺失（13 293 kb）,核型分析与基因芯片结果不一致。FISH验证了SNP array的结果。母亲外周血FISH结果确认为隐匿性46,XX,t（1;15）（q42.1;q26.1）携带者,而胎儿遗传了其中一条衍生的15号染色体der（15）t（1;15）（q42.1;q26.1）。即胎儿遗传了父亲的t（12;13）（q22;q32）平衡易位及母亲的隐匿性平衡易位形成的衍生15号染色体。结论: 1q42.13q44重复和15q26.1q26.3缺失是导致本例胎儿畸形的遗传学病因,产前诊断时多种遗传学技术联合应用可为临床提供准确的诊断。     

99mTc-DTPA眼眶SPECT/CT对甲状腺相关性眼病泪腺炎症的评估价值

目的：探讨99m锝-二亚乙基三胺五乙酸(99mTc-diethylene triamine pentaacetic acid,99mTc-DTPA)单光子发射型计算机断层显像/计算机断层扫描(single photon emission computed tomography/computed tomography,SPECT/CT)在甲状腺相关性眼病(thyroid associated ophthalmopathy,TAO)患者泪腺炎症中的应用价值。方法：回顾性分析58例TAO患者的临床资料,根据临床活动评分(clinical active score,CAS)标准分为活动期组和非活动期组,同时选取影像学表现阴性的12例为对照组。所有患者行99mTc-DTPA眼眶SPECT/CT,分别在横断面、冠状面图像上测量泪腺横径、长径、体积,勾画泪腺与枕叶脑组织的感兴趣区,测量放射性计数平均值,计算靶/非靶比值(target/non-target ratio,T/NT),比较3组间泪腺参数的差异,并评价各参数对TAO活动性的诊断效能。结果：与对照组比较,除TAO非活动期组冠状面长径和T/NT值外,TAO患者各泪腺参数均明显增长或增高(P<0.05);与非活动组比较,除横断面和冠状面长径外,活动期组其余参数均明显增长或增高(P<0.05);除冠状面长径外,TAO患者泪腺参数均与CAS呈正相关,以横断面T/NT最大值的诊断效能最优(曲线下面积为0.82,P<0.01)。结论：99mTc-DTPA 眼眶SPECT/CT作为一种无创性影像学方法,有助于评估TAO患者泪腺炎症程度及临床活动期分期。     

功能性单心室的外科治疗

目的 为了使更多的先天性心脏病患者得到纠治，回顾性总结手术治疗功能性单心室的临床经验。方法 手术纠治127例功能性单心室患者，年龄7个月－12岁，体重7．5－39kg，其中丰唐手术（Fontan operation)72例，半Fontan术3例，双向上腔静脉肺动脉吻合术51例，肺动脉环缩术1例。结果 早期Fontan术19例，死亡11例；改良Fontan术53例，死亡10例；半Fontan术死亡1例；双向上腔静脉肺动脉吻合术死亡4例；总手术死亡率20．5％。结论 功能性单心室必须早期得到纠治，控制肺动脉血流，预防严重缺氧。双向上腔静脉肺动脉吻合术能减少功能性单心室的容量负荷，保持足够的心排血量。改良Fontan术是功能性单心室的最佳手术方案。     

Peripheral small-sized (2 cm or less) non-small cell lung cancer with mediastinal lymph node metastasis; clinicopathologic features and patterns of nodal spread

Objective: The diagnosis of small-sized (2 cm or less) non-small cell lung cancer (NSCLC) has increased with the development of computed tomography (CT), whereas unexpected extensive multiple-level mediastinal involvement has been occasionally detected in this small-sized lung cancer. To establish the optimal surgical strategy, we retrospectively analyzed the clinicopathologic features, efficacy of preoperative investigations and lobe specific patterns of nodal spread in small-sized NSCLC with mediastinal involvement. Methods: Among 1550 resected lung cancer cases between 1981 and 2000, 267 (17.2%) had peripheral small-sized NSCLC. Of these, 29 patients (10.8%) with mediastinal lymph node involvement who underwent pulmonary resection and systematic nodal dissection were reviewed. Results: Among 29 patients, 27 patients (93.1%) were adenocarcinoma, and 51.7% (15/29) showed no lymph node enlargement on CT (cN0). Surgical pathology revealed multiple-level mediastinal involvement in 65.5% (19/29) of all patients and 60.0% (9/15) of cN0 patients. All of right upper lobe tumors (n=11) showed multiple-level involvement. Thallium-201 single photon emission computed tomography (201Tl-SPECT) was positive for increased focal uptake in the mediastinum in 72.7% (8/11) of patients. Conclusions: The vast majority of cases were adenocarcinoma, and two thirds of them showed multiple-level mediastinal involvement, even in cN0 patients. We thus recommend to perform systematic nodal dissection or meticulous sampling for accurate intrathoracic staging, especially for right upper lobe tumor. 201Tl-SPECT appears to be more sensitive preoperative investigation for mediastinal metastasis compared with CT scan.     

醛固酮瘤CYP11B2基因C-344T位点单核苷酸多态性与其发病关系

目的探讨醛固酮瘤CYP11B2基因启动子区C-344T位点单核苷酸多态性与醛固酮瘤患者发病之间的关系。方法应用RT-PCR检测醛固酮瘤（醛固酮瘤肿瘤组织标本34例,醛固酮瘤肿瘤病理切片标本44例）和正常肾上腺组织（13例）中SF-1基因的mRNA表达水平,PCR-RFLP技术检测醛固酮瘤CYP11B2基因C-344T位点基因型。结果在醛固酮瘤中SF-1基因的表达与正常肾上腺组织的无明显差别（P=0.919）,醛固酮瘤病例中CYP11B2基因启动子区C-344T位点C等位点频率明显高于正常人,差异有统计学意义（χ2=6.876,P=0.009）。结论醛固酮瘤CYP11B2基因启动区C-344T位点中C等位点与类固醇合成因子结合率高于T等位点,C等位点与醛固酮瘤患者高醛固酮血症有关。     

载脂蛋白B和脂蛋白脂酶基因多态性与胃癌根治术后胆囊结石形成的关系

目的 探讨载脂蛋白B（ApoB）Xba Ⅰ位点和脂蛋白脂酶（LPL）HindⅢ位点的基因多态性与胃癌根治术后胆囊结石形成的关系.方法 选取复旦大学中山医院2006年诊断为胃癌的80例患者,采用聚合酶链反应-限制性片段长度多态性的方法检测每例患者ApoB Xba Ⅰ位点和LPL HindⅢ位点的基因型.比较这两个位点不同基因型患者术后2年胆囊结石形成情况.结果 本组患者失访8例.根据基因型检测结果,将72例患者分为X^＋X^-组（10例）和X^-X^-组（62例）,H^-组（27例）和H-缺失组（45例）.X^＋X^-组和X^-X^-组患者的胃癌术后胆囊结石的发生率分别为60.0%和6.5%,差异有统计学意义（P＜0.01）：X^＋X^-组患者手术前后血浆总胆固醇和低密度脂蛋白水平均明显高于X^-X^-组（P＜0.05）,而ApoB水平两组差异则无统计学意义（P＞0.05）.H^-组与H^-缺失组胃癌患者术后胆囊结石发生率分别为14.8%和13.3%.差异无统计学意义（P＞0.05）;H^-组血浆三酰甘油水平在手术前明显低于H^-缺失组（P＜0.05）,但术后两组差异无统计学意义（P＞0.05）.结论 ApoB Xba Ⅰ等位基因与胃癌根治术后患者的胆囊结石形成有关,而LPL HindⅢ等位基因则与其无关.     

Lateral popliteal sciatic nerve block: a single injection targeting the tibial branch of the sciatic nerve is as effective as a double-injection technique

BACKGROUND: Evidence indicating that single- and double-injection techniques for inducing a sciatic nerve block via a posterior subgluteal approach yield a similar success rate prompted us to investigate whether the two anesthetic techniques yield a similar success rate via a lateral approach. We also hypothesized that, owing to the peculiar anatomic features of the sciatic nerve at the popliteal level, a single injection via the lateral approach might induce effective anesthesia by targeting the tibial nerve only. METHODS: Ninety-six patients undergoing popliteal sciatic nerve block via a lateral popliteal approach for foot surgery were randomized to receive a single 30-ml injection of ropivacaine 7.5 mg/ml to block the tibial nerve (TN group, n= 32) or the common peroneal nerve (CPN group, n= 32), or two separate 15-ml injections (TN + CPN group, n= 32), after stimulation to evoke motor responses from the target nerves. RESULTS: The mean time to obtain a complete sensory blockade (surgical anesthesia) was shorter in the TN group than in the CPN and TN + CPN groups (14 +/- 7 min vs. 23 +/- 17 and 21 +/- 14 min, respectively; P < 0.05). The success rate was similar in the TN and TN + CPN groups (94%) and, 25 min after the initial injection, was already better in these groups than in the CPN group (94% vs. 75%; P < 0.05). CONCLUSIONS: A lateral popliteal sciatic nerve block obtained with a single 30-ml injection of ropivacaine 7.5 mg/ml after electrostimulation to locate the tibial nerve is as effective as multiple TN + CPN stimulation and injection, and local anesthesia has a significantly shorter onset time.     

过氧化物酶体增殖物激活受体γC161T基因多态性与糖皮质激素性骨质疏松症的关系

目的 探讨中国人过氧化物酶体增殖物激活受体γ(PPARγ)基因外显子6 C161T多态性与糖皮质激素性骨质疏松症(GIO)的相关关系。方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法测定208例正常健康人（Ⅰ组）、168例非GIO患者（Ⅱ组）和104例GIO患者（Ⅲ组）PPARγ基因外显子6 C161T的基因型。应用双能X线骨密度仪(DEXA)测定股骨、腰椎等部位的骨密度。 结果 外显子6 C161T有CC、CT、TT 3种基因型。GIO组CC基因型频率显著低于正常对照组；CT和TT基因型频率显著高于正常对照组。非GIO组、应用激素组（GIO组＋非GIO组）与正常对照组比较，各基因型频率差异均无统计学意义。正常对照组C161T的CC基因型组各部位的骨密度有高于CT和TT基因型组的趋势，但差异无统计学意义。非GIO组和GIO组C161T的CC基因型组腰椎的骨密度明显高于CT和TT基因型组 (P ＜ 0.05)，分别为非GIO组CC型（1.04±0.17） g/cm2，CT+TT型（1.02±0.07） g/cm2；GIO组CC型（0.94±0.12） g/cm2，CT+TT型（0.83±0.08） g/cm2。经年龄、体重指数等因素校正后，差异仍有统计学意义(P ＜ 0.05）。 结论 PPARγ基因C161T基因型在正常人和应用激素患者之间无明显差异，它可能与肾小球肾炎的发病无关。C161T基因型在GIO组和正常对照组之间差异有统计学意义，它可能与糖皮质激素性骨质疏松症的发病有关。PPARγ基因C161T多态性与应用糖皮质激素患者腰椎的骨密度有关。等位基因C可能是骨量的保护因子，它可能与应用糖皮质激素后骨量的丢失有关。     

Single‐nucleotide polymorphisms within the antioxidant defence system and associations with aggressive prostate cancer

What’s known on the subject? and What does the study add? Prior studies have identified potential interaction effects between antioxidant nutrients and germline gene variants with regards to prostate cancer risk. In particular, the rs4880 gene variant in SOD2 (or MnSOD) has been linked to several cancers, including prostate, and appears to interact with antioxidant status and cancer risk. We identified additional variants in SOD2 and SOD1 that may affect risk of prostate cancer, or interact with selenium status to affect prostate cancer risk.

OBJECTIVE

To study the effects of oxidative stress on prostate cancer development as the exact biological mechanisms behind the relationship remain uncertain. We previously reported a statistically significant interaction between circulating selenium levels, variants in the superoxide dismutase 2 gene (SOD2; rs4880), and risk of developing prostate cancer and presenting with aggressive prostate cancer.

PATIENTS AND METHODS

We genotyped men with localized/regional prostate cancer for 26 loci across eight genes that are central to cellular antioxidant defence: glutathione peroxidase (GPX1, GPX4), peroxisome proliferator‐activated receptor γ coactivator (PPARGC1A, PPARGC1B), SOD1, SOD2, and SOD3, and ‘X‐ray repair complementing defective repair in Chinese hamster cell 1’ (XRCC1). Among 489 men, we examined the relationships between genotypes, circulating selenium levels, and risk of presenting with aggressive prostate cancer at diagnosis, as defined by stage, grade and prostate‐specific antigen (PSA) level (213 aggressive cases).

RESULTS

Two variants in SOD2 were significantly associated with the risk of aggressive prostate cancer (rs17884057, odds ratio 0.83, 95% confidence interval 0.70–0.99; and rs4816407, 1.27, 1.02–1.57); men with A alleles at rs2842958 in SOD2 had lower plasma selenium levels (median 116 vs 121.8 µg/L, P= 0.03); and the association between plasma selenium levels and risk of aggressive prostate cancer was modified by SOD1 (rs10432782) and SOD2 (rs2758330).

CONCLUSION

While this study was cross‐sectional and these associations might be due to chance, further research is warranted on the potential important role of antioxidant defence in prostate cancer.