Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

Recent experiments in cultured cyst epithelial cells from kidneys of patients with autosomal dominant polycystic kidney disease (ADPKD) have shown that the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is present in the apical surface of these cells and mediates chloride (Cl-) and fluid secretion in vitro. To determine whether the presence of CF with the expression of mutated CFTR proteins modifies cyst formation in ADPKD, we studied a large family with both inherited diseases. ADPKD in this family is linked to PKD1. The family is composed of 26 members; 11 members with ADPKD, 4 members with CF, and 2 members with both diseases. Renal volumes measured by computerized tomography (CT), calculated creatinine clearances, and other clinical parameters in the family members with ADPKD and CF were compared with those in the family members with ADPKD alone, as well as to a large population of patients with ADPKD. The patients with CF and ADPKD, but not the CF heterozygote carriers with ADPKD, had less severe polycystic kidney and liver disease, as indicated by normal renal function; smaller renal volume, even when corrected for height and body surface area; and the absence of hypertension and liver cysts. These observations suggest that the coexistence of CF may reduce the severity of ADPKD.     

咪达唑仑复合氯胺酮应用于小儿基础麻醉的临床探讨

 目的 探讨应用咪达唑仑复合氯胺酮不同给药方法在小儿基础麻醉中的优化方案.方法 200例1～6岁,ASAⅠ～Ⅱ级患儿随机分成以下五组:A组为口服咪达唑仑0.7 mg/kg;B组为口服氯胺酮8 mg/kg;C组为肌注氯胺酮5mg/kg;D组为口服咪达唑仑0.5 mg/kg和氯胺酮4 mg/kg;E组为先口服咪达唑仑0.5 mg/kg,再肌注氯胺酮4 mg/kg.观察各组诱导结果及呼吸循环变化、不良反应.结果 ①A组与B组比较,A组起效更快(P<0.01),合作更好,不良反应较少;②A组、B组均比C组更合作,但不如C组起效更快;③D组和E组相比,患儿更合作,不良反应更少,但起效更慢,两组诱导效果无显著差异(P>0.05).结论 咪达唑仑复合氯胺酮优于单独给药,对循环呼吸影响小;口服给药可行性更佳.     

Challenges in accessing multidisciplinary pain treatment facilities in Canada

PURPOSE: The objective of this survey was to examine the services offered by multidisciplinary pain treatment facilities (MPTFs) across Canada and to compare access to care at these MPTFs. METHODS: A MPTF was defined as a clinic that advertised specialized multidisciplinary services for the diagnosis and management of patients with chronic pain, having a minimum of three different health care disciplines (including at least one medical speciality) available and integrated within the facility. The search method included approaching all hospital and rehabilitation centre administrators in Canada, the Insurance Bureau of Canada, the Workplace Safety and Insurance Board or similar body in each province. Designated investigators were responsible for confirming and supplementing MPTFs from the preliminary list for each province. Administrative leads at each eligible MPTF were asked to complete a detailed questionnaire regarding their MPTF infrastructure, clinical, research, teaching and administrative activities. RESULTS: Completed survey forms were received from 102 MPTFs (response rate 85%) with 80% concentrated in major cities, and none in Prince Edward Island and the Territories. The MPTFs offer a wide variety of treatments including non-pharmacological modalities such as interventional, physical and psychological therapy. The median wait time for a first appointment in public MPTFs is six months, which is approximately 12 times longer than non-public MPTFs. Eighteen pain fellowship programs exist in Canadian MPTFs and 64% engage in some form of research activities CONCLUSION: Canadian MPTFs are unable to meet clinical demands of patients suffering from chronic pain, both in terms of regional accessibility and reasonable wait time for patients' first appointment.     

氯化镧对内毒素诱导巨噬细胞肿瘤坏死因子表达的影响

目的　探讨稀土化合物氯化镧对内毒素效应的影响。　方法　分离培养小鼠腹腔巨噬细胞 (M) ,用内毒素 (lipopolysaccharide ,LPS)对其进行诱导实验。采用ELISA法及SYBRGreen荧光定量RT PCR方法 ,观察氯化镧对LPS诱导的小鼠M肿瘤坏死因子α(TNFα)分泌及TNFαmRNA表达的影响。BALB/C小鼠随机分为 2组 ,分别给予致死量LPS及经氯化镧处理的LPS ,观察 7d内小鼠死亡率。　结果　经氯化镧处理的LPS诱导的小鼠 ,MTNFα分泌量及TNFαmRNA表达水平均明显低于LPS组 (P <0 .0 1)。经氯化镧处理的致死量LPS攻击小鼠 ,其死亡率明显低于LPS对照组。　结论　氯化镧具有降低内毒素毒性、抑制LPS诱导小鼠MTNFα分泌及TNFαmRNA表达的作用     

妊娠与未妊娠患者超排卵周期第10天子宫内膜基因表达差异分析

目的对内膜修整后所取得的内膜组织按妊娠结果的不同分组进行分子水平的分析和检测,寻找合适的内膜发育分子标志物,早期预测辅助生殖技术(ART)患者的妊娠结果。方法随机选择10例接受增殖期子宫内膜修整术患者,其B超及组织学检查结果表明内膜处于相同发育阶段,按妊娠结果分为妊娠组与未妊娠组,抽提每例的子宫内膜组织总RNA,4例妊娠患者和3例未妊娠患者的内膜组织RNA符合芯片检测要求,使用Affymetrix U133 plus 2.0基因芯片进行表达谱分析。结果妊娠组与未妊娠组子宫内膜组织具有218个差异表达基因(≥2倍),其中177个基因在未妊娠组高表达,41个基因在妊娠组高表达。差异基因主要涉及代谢、细胞通讯和胞内过程调控等生物学过程,参与离子结合、信号传导和物质转运等重要功能。结论妊娠组与未妊娠组的增殖期子宫内膜细胞表达在转录组水平上差异明显,某些重要差异表达基因(LAMA4i、ntegrinα6和MMP1)有可能成为便利的早期预测ART患者妊娠结果的分子标志物。     

基因芯片筛选尿道下裂雌激素敏感基因的研究

目的 寻找与尿道下裂发病密切相关的基因,探讨尿道下裂形成机制.方法 ①实验组为12例尿道下裂患儿,年龄6～12个月,平均8个月.尿道下裂中度5例,重度7例.组织标本取自尿道成形手术时切取的尿道板组织.②对照组为6例年龄匹配的男性患儿,留取包皮环切时的正常表皮组织.用Tri-Reagent分别提取总RNA,与含22 000个人类基因的寡核苷酸基因芯片杂交、洗脱、染色、扫描,基因强度变化行方差分析(ANOVA,P＜0.01)和Tukey分析,基因表达强度变化＞2倍作为有意义的基因,比较尿道下裂和正常组织之间基因表达差异.从上调表达的基因中选择雌激素敏感基因行RT-PCR,标本除上述患儿RNA外,再增加年龄配对的3例中度、1例重度尿道下裂和2例年龄配对的RNA作为对照,即对照、中度和重度尿道下裂患者RNA标本各8例,验证芯片结果.结果 尿道下裂组织与正常组织之间存在明显的基因表达差异,共筛选出表达强度变化＞2倍的基因94个,其中中度尿道下裂与正常比较,47个基因上调表达(P＜0.01);重度尿道下裂与正常比较,68个基因上调表达(P＜0.001);重度与中度比较,17个基因上调表达(P＞0.05).上调表达的基因中发现了4个雌激素敏感基因CYR61、结缔组织生长因子、ATF3和GADD45β,基因芯片和RT-PCR均证实其在尿道下裂组织中的表达明显高于正常对照.结论 异常表达的基因与尿道下裂的发生有关,尿道下裂组织中雌激素敏感基因上调表达参与了尿道下裂的发病机制.     

Off pump coronary artery bypass (OPCAB) in critical left mainstem stenosis—Our experience

Background Beating heart surgery has now become the commonest technique of doing Coronary Artery Bypass Graft Surgery (CABG) in our country. It is being used even in such high risk situations like diffuse coronary disease and Critical Left Main stem Stenosis (LMCS) with good results. The aim of this study is to retrospectively review our results in Off-Pump Coronary Artery Bypass Surgery (OPCAB) in patients with critical left main stem stenosis. Methods This study is a retrospective analysis of the data of patients who underwent primary coronary artery bypass surgery. During the period from April 2003 to September 2005 a total of 64 patients underwent OPCAB procedure for critical LMCS. During the same period 10 patients underwent CABG on Cardio Pulmonary Bypass (CPB). The age range was 36–77yrs. The sex distribution was M: F 53∶10. Ten patients were done as emergency. 2 of them were on Intra Aortic Balloon Pump (IABP) support preoperatively. 10 patients were high risk with a Euro score of ≥5. Results Left Internal Mammary Artery (LIMA) was used in 78% of cases. Average grafts per patient was 2.96. The median ventilation time was 5.91 hrs. New IABP insertion in postoperative period was required in 1 patient. One patient was reexplored for bleeding. There was one perioperative myocardial infarction. 57% of patients did not need any blood transfusion. There was no conversion to CPB. There was no operative mortality. Inotropes were used in ten cases. Conclusions OPCAB is a safe method of revascularization in patients with critical LMCS. Preoperative IABP is useful in patients with cardiogenic shock. However, there is a place for CPB in patients needing additional procedures like Mitral Valve repair (MV repair) or Dor's procedure or when the vessels are very diffusely diseased. Those patients who are unstable despite IABP support may be managed by Beating heart On Pump (BHOP) technique.