Is GSN significant for hip BMD in female Caucasians?

Low bone mineral density (BMD) is a risk factor for osteoporosis. Osteoporosis is more prevalent in females than in males. So far, the pathophysiological mechanisms underlying osteoporosis are unclear. Peripheral blood monocytes (PBMs) are precursors of bone-resorbing osteoclasts. This study aims to identify PBM-expressed proteins (genes) influencing hip BMD in humans.We utilized three independent study cohorts (N = 34, 29, 40), including premenopausal Caucasians with discordant hip BMD. We studied PBM proteome-wide protein expression profiles in cohort 1 and identified 57 differentially expressed proteins (DEPs) between low vs. high BMD subjects. One protein gelsolin (GSN), after validation by Western blotting, was subject to follow-up. We compared GSN mRNA level in PBM between low vs. high BMD subjects in cohorts 2 and 3. We genotyped SNPs across GSN in 2286 unrelated Caucasians (cohort 4) and 1627 Chinese (cohort 5) and tested their association with hip BMD in females and males, respectively.We discovered and validated that GSN protein expression level in PBM was down-regulated 3.0-fold in low vs. high BMD subjects (P < 0.05). Down-regulation of GSN in PBM in low BMD subjects was also observed at mRNA level in both cohort 2 and cohort 3. We identified that SNP rs767770 was significantly associated with hip BMD in female Caucasians (P = 0.0003) only. Integrating analyses of the datasets at DNA, RNA, and protein levels from female Caucasians substantiated that GSN is highly significant for hip BMD (P = 0.0001).We conclude that GSN is a significant gene influencing hip BMD in female Caucasians.     

一例双侧肾透明细胞癌患者与家系成员VHL基因的胚系突变分析

目的　对一例家族性双侧肾透明细胞癌患者家系VHL基因的胚系突变进行分析,结合其临床特点探讨可能的分子遗传学发病机制。方法　收集病人家族史、影像学、入院诊疗和随访资料,提取患者及家系直系成员外周血DNA和RNA,采用PCR-DNA测序、荧光定量PCR,RT-PCR片段长度和序列分析等方法进行VHL基因病理性胚系突变位点的筛查和验证。结果　PCR-DNA测序分析结果显示在这家系成员中均没有发现VHL基因编码区的点突变;VHL基因外显子拷贝数的定量分析数据显示VHL基因外显子2拷贝数减少;RT-PCR产物电泳和测序结果表明先证者与其兄二人存在VHL基因第2外显子杂合性缺失所致的病理性胚系突变。结论　家族性肾细胞癌家系中VHL基因的胚系突变筛查可作为一种有效的手段预测患者的预后,并可指导临床。     

转移性恶性肿瘤患者外周血单个核细胞某些生物学特性的比较

目的 :研究血行转移和淋巴结转移恶性肿瘤患者外周血细胞生物学特性的区别。方法 :用流式细胞术对 32 2例血行转移和 2 0 1例淋巴结转移肿瘤患者外周血细胞DNA倍体、细胞凋亡水平和增殖活性进行了对比分析。结果 :血行转移肿瘤患者外周血细胞DNA异倍体检出率、细胞凋亡水平和细胞增殖活性均显著高于淋巴结转移者 ,其检出率及平均值分别为 12 73%、(3 5 7± 2 14) %、(1 2 4±1 0 6 ) %和 1 0 0 %、(1 94± 1 0 9) %、(0 81± 0 5 3) % (P <0 0 5 )。结论 :血行转移和淋巴结转移肿瘤患者血细胞某些生物学特性有明显不同。这可能为恶性肿瘤血行转移的诊断提供参考依据。     

The delicate balance of macrophages in colorectal cancer; their role in tumour development and therapeutic potential

Most tumours are heavily infiltrated by immune cells. This has been correlated with either a good or a bad patient prognosis, depending on the (sub) type of immune cells. Macrophages represent one of the most prominent leukocyte populations in the majority of tumours. Functions of macrophages range from cytotoxicity, to stimulation of tumour growth by secretion of cytokines, growth and angiogenic factors, or suppressing immune responses. In most tumours macrophages are described as cells with immune suppressing, and wound healing properties, which aids tumour development. Yet, increasing evidence shows that macrophages are potent inhibitors of tumour growth in colorectal cancer. Macrophages in this respect show high plasticity. The presence of high macrophage numbers in the tumour may therefore become advantageous, if cells can be reprogrammed from tumour promoting macrophages into potent effector cells. Enhancing cytotoxic properties of macrophages by microbial products, pro-inflammatory cytokines or monoclonal antibody therapy are promising possibilities, and are currently tested in clinical trials.     

不同体位固定方式在乳腺癌放疗中的应用

目的:研究真空垫(VP)、真空垫联合乳腺托架(VB)和发泡胶联合乳腺托架(PB)对乳腺癌放疗中分次间摆位误差、分次内患者移动及剂量学的影响。方法:前瞻性收集2019-2021年在江苏省肿瘤医院接受放射治疗乳腺癌患者共96例,按简单随机法分为VP组、VB组和PB组,每组32例。利用锥形束CT(CBCT)和计划系统获取患者...     

Laparoscopic cholecystectomy as a ‘session’ surgery

Aims: To introduce laparoscopic cholecystectomy to our Day Surgery Unit and assess the implications of a 6 h postoperative stay in unselected patients. Methods: A retrospective analysis of data was performed in which the case notes of a series of 170 consecutive patients undergoing day case laparoscopic cholecystectomy were studied. All patients with symptomatic gallstones were considered for day case laparoscopic cholecystectomy. Patients were excluded if there was major medical co-morbidity but not solely on the basis of age or Body Mass Index (BMI). Surgery was performed in a dedicated Day Surgery Unit and cholangiography was performed selectively. All patients were assessed at 6 h postoperatively for discharge and followed up by telephone at 24, 48 h and 2 weeks postoperatively. Results: Of 170 patients 121 (71.1%) were discharged at 6 h, 116 reported no problems and were satisfied with day case treatment. Two (1.6%) patients required a GP visit at home within 24 h and three (2.5%) patients required readmission. Forty-nine (28.9%) patients required admission, the commonest cause for admission being postoperative pain and nausea (10.6%) in approximately equal proportions. Three were admitted as they had open surgery. One patient required further surgical intervention (laparoscopy). Conclusion: Laparoscopic cholecystectomy as a ‘session’ surgery, with planned discharge 6 h after operation, is successful in the majority of unselected patients even though a significant number of overnight admissions are to be anticipated.     

Facilitators and barriers of Hepatitis B screening and vaccination

BackgroundHepatitis B virus (HBV) infection is the most common cause of liver disease and liver cancer in Singapore, being endemic despite availability of an efficacious vaccine.ObjectiveTo assess the factors associated with HBV screening and vaccination.MethodsUsing mixed methods analysis, focus group discussions were conducted alongside a cross-sectional study amongst 784 Singapore Citizens and Permanent Residents aged 25–69 residing in Housing and Development Board (HDB) flats.ResultsAmongst the respondents, 50.6% were screened and 37.8% were vaccinated. The self-reported prevalence of HBV infection was 3.4% and that of HBsAg seropositivity among those screened was 4.3%. Routine health screening was the most common reason cited for screening (32.9%) while doctors’ recommendation was the most common reason for vaccination (42.7%). For both screening and vaccination, knowledge and cost were the top facilitators and barriers respectively. Multivariable regression models revealed the most significant predictors for not undergoing screening to be poor knowledge (p < 0.001), the presence of stigma (p = 0.040) and not being employed in a healthcare sector (p = 0.022), while factors associated with not undergoing vaccination are that of having not undergone screening (p < 0.001) and the lack of importance placed on the knowledge of the possibility of HBV being a silent killer (p = 0.006).ConclusionSeveral facilitators and barriers are seen to regulate health-seeking behaviour towards HBV infection. Public initiatives including education and financial relief targeting specific population groups should be considered to increase the uptake of HBV screening and vaccination.     

乙醛脱氢酶2基因多态性和饮酒习惯与肝癌发生的关系研究

目的 :研究当地饮酒习惯与乙醛脱氢酶 2 (ALDH2 )基因的多态性对肝癌危险性的影响。方法 :在江苏泰兴市选择 1999年 9月 1日～ 2 0 0 0年 12月 31日新发肝癌病人 88例 ,按性别、年龄和居住地1∶1配对 ,进行流行病学调查研究 ,并应用PCR RFLP方法检测研究对象的ALDH2基因型。统计分析采用EpiInfo软件包。结果 :饮大量高度酒能显著增加ALDH2变异基因型携带者患肝癌的危险性 (OR=7 2 0 ,χ2 =6 6 5 ,P <0 0 1)。结论 :ALDH2基因多态性和饮酒习惯与肝癌的发生有关。