We aimed to unveil the underlying pathogenic mechanisms of skin cancer in relation to metabolic factors and pathway mechanisms. This study utilized the TwoSample Mendelian randomization (MR) method to investigate the causal relationship between 1400 plasma metabolites and skin cancer. The primary method employed was the inverse variance weighting (IVW). Through IVW analysis, we found 105 plasma metabolites associated with Basal Cell Carcinoma (BCC), with the highest association observed for Prolylglycine levels (OR [95

目的 对Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)一家系进行致病基因变异研究.方法 应用目标捕获高通量测序和Sanger 测序技术对1例NF1患者、2例直系亲属进行基因突变分析.结果 在NF1先证者中检测到1个罕见的无义变异NF1c.5305C˃T(p.Arg1769X),其母亲也检测到同样变异,其父亲及200名对照的全外显子组测序数据库中均未检测到上述变异.结论 NF1基因的杂合无义变异c.5305C˃T(p.Arg1769X)可能是该NF1家系的致病原因.

We investigated the role of the lncRNA MSC-AS1 in prostate cancer (PCa) by analyzing its expression in 56 pairs of PCa tissues and adjacent tissues. We examined the relationship between MSC-AS1 expression, clinicopathological indicators, and patient prognosis. In PCa cell lines, we overexpressed or knocked down MSC-AS1 and assessed its impact on cell function using transwell assays and wound healing tests. We explored the interaction between MSC-AS1 and miR-190a-3p using luciferase reporter assays. Our findings showed significantly higher MSC-AS1 expression in PCa tumor specimens compared to adjacent tissues. High MSC-AS1 expression correlated with increased incidence of lymph node and distant metastasis. Overexpressing MSC-AS1 reduced cell invasiveness and migration, while knocking it down enhanced these abilities. We observed decreased miR-190a-3p expression in PCa tissues, negatively correlating with MSC-AS1 expression. Modulating miR-190a-3p expression counteracted the effects of MSC-AS1 on cell invasiveness and migration. In conclusion, our study highlights the association of MSC-AS1 with metastasis and poor prognosis in PCa patients, suggesting its involvement in the malignant progression of the disease via miR-190a-3p modulation. MSC-AS1 holds potential as a prognostic biomarker for PCa and a therapeutic target for novel treatment strategies. Further research is needed to understand the underlying mechanisms and validate the clinical implications of targeting MSC-AS1 and miR-190a-3p in PCa management.

OBJECTIVETo explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1).METHODSTarget capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents.RESULTSThe proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls.CONCLUSIONThe heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.

Bladder cancer is one of the most frequently occurring malignant tumors in the urinary system. Sodium butyrate (NaB) is a histone deacetylase inhibitor and exerts remarkable antitumor effects in various cancer cells. MicroRNAs (miRNAs) and autophagy play crucial roles in cancer occurrence and development. In the present study, we evaluated the anticancer effects, including cell migration inhibition and the apoptotic effects of NaB in human bladder cancer cells. Furthermore, we found that NaB inhibited migration and induced AMPK/mTOR pathway-activated autophagy and reactive oxygen species (ROS) overproduction via the miR-139-5p/Bmi-1 axis. In addition, we found that ROS overproduction contributed to NaB-induced caspase-dependent apoptosis and autophagy. The interplay between autophagy and apoptosis in NaB treatment was clarified. Our findings provide a further understanding of EMT reversion, apoptosis and autophagy induced by antitumor drugs and a novel perspective and alternative strategy for bladder cancer chemotherapy.

目的 探讨分析肾肿瘤患者采用后腹腔镜肾部分切除术治疗的临床效果. 方法 选取2012年3月到2017年4月间在本院就诊的78例肾肿瘤患者,随机将患者分为观察组(39例)、对照组(39例).对照组患者采用开腹肾部分切除术进行治疗,观察组患者采用后腹腔镜肾部分切除术进行治疗.观察并对比两组患者术中指标、术后恢复指标和术后并发症情况. 结果 观察组术中出血量明显比对照组少(P＜0.05),观察组肾蒂阻断时间明显比对照组短(P＜0.05);观察组术后引流管拔出时间、肠道恢复时间和住院时间明显比对照组短(P＜0.05),观察组1周VAS评分和术后引流量明显比对照组少(P＜0.05);观察组患者并发症发生率明显低于对照组(P＜0.05). 结论 肾肿瘤患者采用后腹腔镜肾部分切除术,手术创伤较小,患者术后恢复较快,术后疼痛较轻,且并发症发生率较低,安全可靠,具有较高的临床应用价值,值得应用推广.

The present invention discloses applications of targeted HOTAIR-inhibiting small RNA in preparation of anti-prostate cancer drugs. According to the present invention, the DNA sequence encoding HOTAIR gene is located between the gene HOXC11 and the gene HOXC12 of the chromosome 12, HOTAIR is a spliced polynucleotide transcription product having a length of 2158 nt, and the sequences encoding HOTAIR comprises five short exons and a long exon; the small RNA comprises a variety of siRNA sequences, wherein the small RNA can downregulate the expression of the HOTAIR gene in prostate cancer cells in a targeted manner so as to induce cell cycle arrest and inhibits cell invasion and migration ability, such that the small RNA can be used for the preparation of the anti-prostate cancer drugs; the siRNA of the present invention has characteristics of simple preparation, low cost, less consumption and exact inhibition effect, wherein the good inhibition effect can be achieved only with the 50 nM transfection concentration; and the siRNA inhibits the gene expression while the integrity of the genome can not be damaged.

OBJECTIVE:To investigate the expression of long non-coding RNA-HOTAIR in prostate cancer cells and its effects on the growth and metastasis of the cells.METHODS:Using quantitative reverse-transcription PCR (qRT-PCR), we determined the relative expression of HOTAIR in the normal human prostate epithelial cell line RWPE-I and prostate cancer cell lines PC-3 and DU145. We detected the effects of HOTAIR on the cell cycle and invasiveness of prostate cancer cells by RNA interference, flow cytometry, and Transwell mitration assay.RESULTS:The expressions of HOTAIR in the PC3 and DU145 cells were increased 3.2 and 5.7 times, respectively, as compared with that in the normal RWPE-1 cells. After si-HOTAIR interference, the prostate cancer cells were arrested in the G2 phase and downregulated in the G1 phase. The invasive ability of the prostate cancer cells was evidently inhibited, with the inhibition rates of 32% and 44% of the PC3 cells and 43% and 34% of the DU145 cells for si-HOTAIR1 and si-HOTAIR2, respectively.CONCLUSION:IncRNA HOTAIR is highly expressed in prostate cancer, which is associated with the growth and invasiveness of prostate cancer cells. HOTAIR is potentially a novel marker for the diagnosis and prognosis of prostate cancer.

<正>肾绞痛是泌尿外科常见的急症,主要病因为输尿管结石等各种原因导致输尿管梗阻,临床经解痉、镇痛治疗后多可好转,但积极治疗病因、解除梗阻是缓解症状的根本措施[1]。本院2007年9月至2008年12月,对52位确诊为输尿管结石所致急性肾绞痛患者,急诊行输尿管镜气压弹道碎石术,以观察用此方法缓解急性肾绞痛的疗效。现报告如下。

目的 探讨前列腺术后出现谵妄的相关因素,提高对该并发症的预防和诊治水平.方法 回顾性分析13例前列腺术后出现谵妄患者的临床资料,总结术后发生谵妄的危险因素及其临床表现、诊断和处理.13例患者中行经尿道前列腺电切术(TURP)8例,行经膀胱前列腺切除术5例(包括2例TURP中转开放手术).手术时间100～260min,术中及术后出血100～800 ml.结果 13例患者发生谵妄时间为术后当天至术后6 d,其中12例在术后3 d内.表现为突出的感知障碍、恐怖性幻觉、定向失调、记忆力减退和其他情感反应.所有患者根据病情,积极给予对症处理,症状均于1～3 d消失.结论 除需注意术后谵妄的常见原因外,应重视前列腺增生症术后谵妄的特点,尽量缩短手术时间,注意保护患者隐私,积极处理膀胱刺激症状,大多数谵妄患者是可以完全恢复的。

目的 探讨利用电切镜外鞘输尿管镜直视下气压弹道碎石结合双极等离子电切术治疗良性前列腺增生症(BPH)并膀胱结石的效果.方法 2007年4月至2009年5月收治26例BPH并膀胱结石患者,利用电切镜外鞘输尿管镜直视下气压弹道碎石结合双极等离子电切进行治疗.结果 本组26例患者手术均成功;中位手术时间82.5(55～130)min;术中出血量30～400 ml.除1例出现膀胱内血肿形成外,其余患者均无出血,术后排尿通畅.随访3～20个月,均无尿失禁及尿道狭窄,膀胱内均无结石复发.结论 输尿管镜配合双极等离子电切术治疗BPH并膀胱结石操作可行,安全性好,术中避免了更换镜鞘等操作,尿道损伤更小,是治疗BPH并膀胱结石较为有效的方法.

精囊囊肿是一种罕见的疾病,宁波北仑人民医院成功在腹腔镜下切除精囊囊肿1例,报道如下.