以肺动脉高压为首发表现的先天性中枢性低通气综合征临床特征和基因分析

目的探讨先天性中枢性低通气综合征(CCHS)的临床和基因变异特征。方法分析1例首发表现为不明原因肺动脉高压的CCHS患儿的临床资料,并总结国内外文献中CCHS病例的临床特点、致病机制和基因变异情况。结果11月龄女婴,主要表现为浮肿、尿少、低血压、嗜睡、发绀、抽搐及颅内压增高。B型脑利钠肽、丙氨酸氨基转移酶升高,凝血酶原时间延长。颅脑磁共振示右侧额叶出血;超声心动图示中重度肺动脉高压。靶向捕获二代测序未发现可能的致病基因。采用Sanger法验证示患儿PHOX 2 B基因第3外显子存在多聚丙氨酸重复扩展变异,基因型为20/25。患儿入院后采用无创通气,睡眠时呼吸浅慢、微弱,伴血氧下降;血气分析提示二氧化碳潴留。随后改用夜间无创通气、降肺压药物治疗。复查肺动脉压力明显下降,生命体征稳定。随访至24月龄,夜间只需较低压力水平的无创通气,生长发育无异常。结论对于不明原因的肺动脉高压伴撤机困难患儿,需警惕CCHS。疑诊者应尽早针对CCHS相关基因进行靶向捕获二代测序及PHOX 2 B基因Sanger法验证。早期给予无创通气有望改善预后。     

鼻咽部神经内分泌癌的病理特征和临床分析

目的 探讨鼻咽部神经内分泌癌（neuroendocrine carcinoma，NEC）的临床病理特征、免疫组化特点、治疗方法及预后。方法 回顾性分析12例NEC患者的临床和病理资料，并复习相关文献。 结果 12例患者中，男性10例，女性2例，平均年龄49.4岁，病理类型均为小细胞型NEC。光镜下可见较小瘤细胞，呈圆形、卵圆形和梭形，核深染，胞浆少，核浆比例高，伴有较明显的病理性核分裂象，染色质细腻。免疫表型：CgA、Syn、CD56和EBERs阳性或部分阳性者分别有6例、10例、9例和3例。临床分期Ⅰ期1例，Ⅱ期1例，Ⅲ期4例，Ⅳ期5例，分期不详1例。所有患者均接受放疗和（或）化疗，至随访结束存活者9例，死亡3例。结论 鼻咽部神经内分泌癌临床上较少见，好发于中老年男性，病理类型以小细胞型为主，易出现颈部淋巴转移，就诊时大部分已处中晚期，治疗以放化疗为主。     

Additional bedtime H2‐receptor antagonist for the control of nocturnal gastric acid breakthrough: A Cochrane systematic review

OBJECTIVES: To assess the effectiveness and safety of additional bedtime H₂‐receptor antagonists (H₂RAs) in suppressing nocturnal gastric acid breakthrough (NAB) via a systematic review. METHODS: Eligible trials were identified by searching the Cochrane Central Register of Controlled Trials (CENTRAL) (Cochrane Library Issue 2, 2004), MEDLINE (January 1966–June 2004), EMBASE (January 1980–June 2004) and CINAHL (January 1982–June 2004). Additional hand‐searching was conducted on the proceedings of correlated conferences, eight important Chinese journals and references of all included trials. All randomized controlled trials evaluating H₂RAs for the control of NAB were eligible for inclusion. The systematic review was conducted using methods recommended by The Cochrane Collaboration. RESULTS: Only two randomized crossover studies, comprising 32 participants, met the inclusion criteria. Because the design, dosage and duration of the treatments were different between the studies, it was not possible to conduct meta‐analysis. There were no consistent conclusions found between the two included studies in evaluating H₂RAs for the control of NAB. CONCLUSIONS: No implications for practice at this stage can be concluded. Appropriately designed large‐scale randomized controlled trials with long‐term follow up are needed to determine the effects of additional bedtime H₂RAs in suppressing NAB.     

缺氧对乳腺癌细胞E-cadherin、cytokeratin、vimentin表达的影响

目的:研究体外缺氧对乳腺癌细胞系MCF7浸润能力及其细胞表面黏附分子E-cadherin和细胞骨架蛋白犤细胞角蛋白(cytokeratin)、波形蛋白(vimentin)犦表达的影响。方法:模拟体外缺氧环境,观察缺氧对乳腺癌细胞MCF7浸润穿透Matrigel的能力;以及采用半定量RT-PCR检测细胞表面黏附分子E-cadherin和cytokeratin、vimentin表达情况。结果:缺氧状态下MCF7细胞的浸润能力明显增强;且在缺氧条件下E-cadherin基因表达下降、cytokeratin、vimentin基因表达升高。结论:缺氧状态下MCF7细胞转移能力和其表面的E-cadherin基因、cytokeratin、vimentin基因表达存在一定关系。     

小颗粒致密低密度脂蛋白氧化特性及对血管内皮细胞脂质过氧化的影响

了解小颗粒致密低密度脂蛋白中抗氧化维生素含量、氧化特性 ,探讨其对血管内皮细胞脂质过氧化的影响。采用二次密度梯度超速离心的方法分离制备小颗粒致密低密度脂蛋白 ,高压液相色谱测定其抗氧化物质维生素A、E和 β 胡萝卜素 ;连续监测小颗粒致密低密度脂蛋白在 2 34nm的吸光度以测定其氧化敏感曲线 ;在血管内皮培养液中分别加入不同浓度的小颗粒致密低密度脂蛋白 ,培养后测定培养液丙二醛的浓度。实验成功分离小颗粒致密低密度脂蛋白 ,与大而轻低密度脂蛋白相比 ,维生素A、E和 β 胡萝卜素等抗氧化物质及总抗氧化能力明显减少 ,只有大而轻低密度脂蛋白的 6 5 %、39%和 2 4 % ,故小颗粒致密低密度脂蛋白氧化的延迟时间只有大而轻低密度脂蛋白的 37.5 % ,但硫代巴比妥酸反应物质值及氧化速率分别是大而轻低密度脂蛋白的 1 .7倍和 1 .2 8倍 ;培养液中丙二醛含量随加入脂蛋白的浓度和作用时间而增高 ,2 4h时小颗粒致密低密度脂蛋白 5 0mg组、1 0 0mg组、1 5 0mg组与相同剂量大而轻低密度脂蛋白组比较丙二醛显著增高 (P <0 .0 5 )。上述结果提示 :小颗粒致密低密度脂蛋白中抗氧化物质及抗氧化能力下降 ,氧化敏感性增高 ,并促进内皮细胞过氧化损伤     

溃疡性结肠炎内镜、病理特点及其临床意义

目的探讨溃疡性结肠炎内镜及病理组织学检查的临床特点及其意义。方法采用分级的方法描述219例活动期溃疡性结肠炎以及53例治疗后临床症状完全缓解者的内镜、病理组织学特点。运用Spearman等级相关系数进行相关分析。结果本组219例活动期溃疡性结肠炎内镜分级主要分布在Ⅱ～Ⅲ级，占59．8％。病理组织学分级主要分布在Ⅲ～Ⅳ级，占79．9％（r=0．1692，P=0．0122）。经治疗后4周～8个月间，53例临床症状完全消失。内镜分级由治疗前的Ⅲ～Ⅳ级向Ⅰ～Ⅱ级转归，而病理组织学分级Ⅳ级为22．7％（r=0．3007，P=0．0287）。内镜分级与病理组织学分级两者间均无相关性。结论本组内镜及病理组织学分级描述溃疡性结肠炎病情以及疗效有不一致性。早期诊断以及近期疗效的判断不仅应依靠临床症状及内镜检查所见，更应结合病理组织学检查。     

肱骨内上髁骨折致尺神经卡压1例

患者,男,17岁,因右肘肿痛,活动受限30min于2005年6月15日来我院就诊。患者于30min前与同学扳手腕时突感右肘内侧疼痛难忍,逐渐肿胀,活动受限,右手各指无麻木。查体:右肘内侧肿胀明显,压痛,可触及骨擦感,右肘伸屈活动及前臂旋转活动受限,右手各指活动良好,感觉正常。X线片示右肱     

hs-CRP、TAS联合血脂检测在早老性痴呆症诊断中的应用研究

[目的]研究超敏C反应蛋白（hs-CRP）、总抗氧化状态（TAS）联合血脂检测在早老性痴呆症诊断中的应用价值：[方法]选择浦东新区精神卫生中心早老性痴呆专科门诊患者54例，作超敏C反应蛋白、总抗氧化状态与血脂检测。[结果]与对照组比较，实验组hs-CRP、TAS差异非常显著，t1=4．55，t2=2．79，P1〈0．001，P2〈0．01；血脂中甘油三酯、低密度脂蛋白胆固醇、载脂蛋白B、Lp（a）差异显著；t1=3.01，P1〈0．01，t2=2．21，P2〈0．05，t3=2．64，P3〈0．01，t4=1．91，P4〈0．05。[结论]超敏C反应蛋白、总抗氧化状态联合血脂（甘油三酯、低密度脂蛋白胆固醇、载脂蛋白B、Lp（a））检测对实验室诊断早老性痴呆症具有较好敏感性和特异性，临床应用前景乐观。     

Implant wear induces inflammation, but not osteoclastic bone resorption, in RANK(-/-) mice.

Signaling of RANK (receptor activator of nuclear factor kappa B) through its ligand RANKL appears critical in osteolysis associated with aseptic loosening (AL). The purpose of this study was to investigate the role of RANK in a murine osteolysis model developed in RANK knockout (RANK(-/-)) mice. Ultra high molecular weight polyethylene (UHMWPE) debris was introduced into established air pouches on RANK(-/-) mice, followed by implantation of calvaria bone from syngeneic littermates. Wild type C57BL/6 (RANK(+/+)) mice injected with either UHMWPE or saline alone were included in this study. Pouch tissues were collected 14 days after UHMWPE inoculation for molecular and histology analysis. Results showed that UHMWPE stimulation induced strong pouch tissue inflammation in RANK(-/-) mice, as manifested by inflammatory cellular infiltration, pouch tissue proliferation, and increased gene expression of IL-1beta, TNFalpha, and RANKL. However, the UHMWPE-induced inflammation in RANK(-/-) mice was not associated with the osteoclastic bone resorption observed in RANK(+/+) mice. In RANK(+/+) mice subjected to UHMWPE stimulation, a large number of TRAP(+) cells were found on the implanted bone surface, where active osteoclastic bone resorption was observed. No TRAP(+) cells were found in UHMWPE-containing pouch tissues of RANK(-/-) mice. Consistent with the lack of osteoclastic activity shown by TRAP staining, no significant UHMWPE particle-induced bone resorption was found in RANK(-/-) mice. A well preserved bone collagen content (Van Gieson staining) and normal plateau surface contour [microcomputed tomography (microCT)] of implanted bone was observed in RANK(-/-) mice subjected to UHMWPE stimulation. In conclusion, this study provides the evidence that UHMWPE particles induce strong inflammatory responses, but not associated with osteoclastic bone resorption in RANK(-/-) mice. This indicates that RANK signaling is essential for UHMWPE particle-induced osteoclastic bone resorption, but does not participate in UHMWPE particle-induced inflammatory response.     

腹腔镜下切口疝补片修补术的临床应用

目的 探讨腹腔镜下腹壁切口疝修补术的手术方法、安全性等问题。方法对2004年3月至2006年5月79例行腹腔镜下补片修补术治疗腹壁切口疝病人的临床资料进行分析。结果 78例（98．7％）手术成功，1例因腹腔内广泛粘连而中转开放修补。平均手术时间为88min，平均术后住院4．6d，18例（22．8％）病人术中发现有1个以上的隐匿性缺损。术后并发症：术后短期内修补区腹壁明显疼痛58例（73．4％）。腹壁缝合点较长时间疼痛6例（7．6％），浆液肿14例（17．7％），无手术死亡，1例术后出现肠瘘，经保守治疗好转，1例腰部切口疝的病人术后复发。结论 多数病人腹壁切口疝可以经腹腔镜行粘连松解及补片修补术，并可在术中发现其他隐性缺损，手术安全性较高。对腹腔内广泛粘连而影响操作器械进入及粘连分离者，应及时中转开腹手术。