目的 探讨全息影像3D可视化技术辅助腹腔镜肾上腺肿瘤切除术的临床可行性和有效性,并评估其在医患沟通中的效果.方法 收集2018年1月至2022年12月因肾上腺肿瘤行腹腔镜肾上腺肿瘤切除术共72例患者的临床资料.纳入标准:肾上腺良性病变、体重指数(BMI)＜30 kg/m2、肿瘤最大直径＜8 cm、美国麻醉医师协会(ASA)分级为Ⅰ或Ⅱ级.其中32例术前采用全息影像3D可视化技术(观察组),40例术前未行全息影像3D可视化技术(对照组).术前两组均采用64层螺旋CT进行薄层平扫+增强扫描,观察组将CT影像检查图像重建3D可视化数字模型及全息影像,用于术前规划、医患沟通及术中导航.两组患者皆完成疾病认知度和术前沟通满意度问卷调查表的填写.采用独立样本t检验或x2x检验比较两组围术期相关指标及患者疾病认知度和术前沟通满意度问卷调查表得分.结果 本研究手术均顺利完成.观察组在手术时间、术中失血量、肿瘤破裂例数、术区引流管留置时间低于对照组,分别为(53.5±17.9)min和(63.9±19.2)min(F=5.552)、(45.8±7.2)ml 和(49.4±6.6)ml(F=4.623)、0例和 5 例、(2.5±0.4)d 和(2.8±0.6)d](F=6.340),差异均有统计学意义(P＜0.05).两组在术后肠蠕动恢复时间[(1.5±0.7)d和(1.6±0.8)d]、留置尿管时间[(1.8±0.4)d 和(1.9±0.5)d]、术后卧床时间[(1.6±0.4)d 和(1.7±0.4)d]、病理类型、住院时间[(4.6±0.5)d和(4.7±0.6)d]的比较差异均无统计学意义(P＞0.05).观察组与对照组在术前谈话时签同意书所用时间[(23.9±1.1)min和(25.2±2.6)min]、对肿瘤病情了解程度[(7.8±0.4)分和(7.6±0.3)分]、对手术方案和并发症了解程度[(7.9±0.5)分和(7.5±0.4)分]以及对医生术前谈话效果满意程度[(7.9±0.4)分和(7.6±0.2)分]的比较差异有统计学意义(P＜0.05).结论 全息影像3D可视化技术辅助肾上腺肿瘤手术治疗和医患沟通,可以降低手术时间,减少手术风险,提高患者对自身疾病和手术的认知理解度,增加医患沟通效果.

目的 探讨隐丹参酮调节转化生长因子β1(TGF-β1)/Smad3信号通路介导的上皮间质转化(EMT)对前列腺癌小鼠肿瘤生长的影响.方法 50只小鼠右侧腋皮下注射PC-3细胞悬液建立前列腺癌移植瘤小鼠模型,将造模成功的44只小鼠随机分为模型组(10只)、隐丹参酮低剂量组(12只)、隐丹参酮高剂量组(12只)和多西紫杉醇组(10只),另取10只作为正常组.隐丹参酮低和高剂量组小鼠分别腹腔注射隐丹参酮20和40 mg/kg,1次/2 d,多西紫杉醇组小鼠腹腔注射多西紫杉醇0.25 mg/mL,1次/7 d,连续给药42 d.测定肿瘤体积和抑瘤率,ELISA检测血清中白介素(IL)-6、肿瘤坏死因子α(TNF-α)和前列腺特异性抗原(PSA)水平以及超氧化物歧化酶(SOD)活性和丙二醛(MDA),qRT-PCR法检测上皮钙粘蛋白(E-cad)、神经钙粘蛋白(N-cad)和波形蛋白(Vimentin)mRNA水平,蛋白印迹法检测E-cad、N-cad、Vimentin、TGF-β1和p-Smad3蛋白相对表达量.结果 与模型组比较,隐丹参酮低、高剂量组和多西紫杉醇组肿瘤体积减小,IL-6、TNF-α和PSA、MDA水平降低,SOD活性以及E-cad mRNA水平和蛋白相对表达量升高,N-cad和Vimentin mRNA水平和蛋白相对表达量降低,TGF-β1和p-Smad3蛋白相对表达量降低,其中各指标变化以多西紫杉醇组最为显著,其次是隐丹参酮高剂量组和隐丹参酮低剂量组(P<0.05).结论 隐丹参酮可能通过抑制TGF-β1/Smad3信号通路逆转EMT过程,从而抑制前列腺癌小鼠肿瘤生长,降低炎症反应.

Objective To analyze the clinical effect of intrafascial hot acupuncture combined with compound betamethasone in the treatment of knee osteoarthritis and the influence on pain degree and joint function of patients. Methods 120 patients with knee osteoarthritis admitted to our hospital from June 2020 to June 2022 were selected and randomly divided into observation group and control group, with 60cases in each group. The control group was only treated with compound betamethasone, and the observation group was treated with intrafascial hot acupuncture combined with compound betamethasone. The clinical efficacy, pain degree（assessed by VAS score） and knee joint function（assessed by KOOS score） of the two groups were compared. Results The total effective rate of the observation group was91.67%, higher than 73.33% of the control group（P ＜0.05）. Before treatment, no statistical difference shoewed in the VAS and KOOS scores between the two groups（P ＞0.05）. After 4 weeks of treatment, the VAS scores of both groups were lower than those before treatment, and the KOOS scores were higher than those before treatment（P ＜0.05）; The VAS score of the observation group was lower than that of the control group, and the KOOS score was higher than that of the control group（P ＜0.05）. Conclusions Compared with compound betamethasone alone, intrafascial hot acupuncture combined with compound betamethasone has better effect in the treatment of knee osteoarthritis, and can effectively relieve the pain and improve the joint function of patients, which is worthy of clinical promotion.

Objective:To investigate the effect of transurethral needle electrode enucleation combined with immediate intravesical instillation on bladder tumor and its influence on the recurrence rate.Methods:A total of 76 patients with bladder cancer treated in Zhengzhou Central Hospital Affiliated to Zhengzhou University from June 2017 to June 2021 were selected. According to dichromatic sphere method, they were divided into control group and observation group, with 38 cases in each group. The control group was treated by transurethral resection of bladder tumor (TURBT) combined with intravesical instillation, and the observation group was treated by transurethral enucleation of bladder tumor with needle electrode combined with immediate intravesical infusion. The therapeutic effect, the levels of serum factors, complication rate and recurrence rate after 1-year follow-up of the two groups were compared.Results:There was no significant difference in operation time, blood loss, hospital stay between the two groups ( P>0.05). There was no significant difference in levels of serum factors between the two groups before and after treatment ( P>0.05). There was no significant difference in the incidence of complications between the observation group (13.16%, 5/38) and the control group (18.42%, 7/38), P>0.05. After 1-year follow-up, the recurrence rate in the observation group (2.63%, 1/38) was lower than that in the control group (18.42%, 7/38), P<0.05. Conclusions:Transurethral needle electrode enucleation combined with immediate intravesical instillation has good safety in the treatment of bladder tumor, and it can significantly reduce the recurrence rate.

目的:探讨后腹腔镜输尿管切开取石术(RLU)治疗上段输尿管结石对患者疼痛介质、术后并发症的影响.方法:选取郑州大学附属郑州中心医院2019年1月至2022年1月期间收治的60例上尿路结石患者,按随机数字表法分为对照组与观察组,各30例.对照组患者予以经输尿管镜取石术(URL)治疗,观察组患者予以RLU治疗,随访3个月.比较两组患者的术中出血量、手术时间、住院时间、疼痛评分、疼痛介质、炎症指标、肾功能指标、生活质量、一次性结石清除率及并发症.结果:观察组患者的术中出血量较对照组少,手术时间较对照组短,疼痛评分较对照组低,差异具有统计学意义(P＜0.05).两组患者的住院时间比较,差异无统计学意义(P＞0.05).术后观察组患者的前列腺素E2(PGE2)、前列腺素F2α(PGF2α)较对照组低,差异具有统计学意义(P＜0.05).术后观察组患者的C反应蛋白(CRP)、白细胞介素-6(IL-6)、肿瘤坏死因子-α(TNF-α)较对照组低,差异具有统计学意义(P＜0.05).术后观察组患者的血肌酐(SCr)、尿素氮(BUN)较对照组低,差异具有统计学意义(P＜0.05).术后观察组患者的生活质量评分较对照组高,差异具有统计学意义(P＜0.05).观察组患者的并发症发生率为6.67％,较对照组的26.67％低,差异具有统计学意义(P＜0.05).观察组患者的一次性结石清除率为96.67％(29/30),较对照组的73.33％(22/30)高,差异具有统计学意义(P＜0.05).结论:RLU治疗上尿路结石效果更佳,能够减少疼痛介质释放,减轻炎症反应及肾功能损害,一次性结石清除率高,且并发症少,利于改善患者生活质量.

目的:观察和分析体外冲击波(ESW)联合内热针治疗肱骨外上髁炎的临床疗效。方法:纳入符合条件的肱骨外上髁炎患者46例，根据患者选择的治疗方式不同(ESW治疗或联合肱骨外上髁及冈下肌内热针治疗)，按随机数字表法分为ESW治疗组和联合治疗组，每组23例。2组患者均给予肱骨外上髁ESW治疗，治疗参数设置为探头直径15 mm，治疗压力2.5~3.5 bar(1 bar＝100 kPa)、频率8.0 Hz；治疗部冲击约1500~2000次，每周治疗1次，共4周；联合治疗组在此基础上给予肱骨外上髁及冈下肌内热针治疗，每部位每周内热针治疗1次，共治疗2次。分别于治疗前、治疗结束后1周、4周及12周时，采用目测类比法(VAS)疼痛评分、无痛握力(PFG)测试分别对2组患者的疼痛程度评分和握力大小进行评定，并于治疗前及治疗结束后12周时，对2组患者的日常生活活动(ADL)能力进行调查问卷评估。结果:治疗前，2组患者的VAS疼痛评分[ESW治疗组(5.91±2.01)分，联合治疗组(5.85±1.89)分]、PFG值[ESW治疗组(14.10±5.96)kg，联合治疗组(14.54±6.92)kg]以及ADL[ESW治疗组(25.50±2.21)分，联合治疗组(24.75±1.72)分]的组间差异均无统计学意义( P>0.05)。治疗结束后1周、4周及12周时，联合治疗组患者的VAS疼痛评分和PFG值均明显优于同时间点的ESW治疗组( P<0.05)；其中治疗结束后12周时组间比较，联合治疗组的VAS疼痛评分[(1.37±0.56)分]、PFG值[(29.69±11.67)kg]及ADL评分[(30.35±1.56)分]均明显优于ESW治疗组[VAS疼痛评分(2.45±1.02)分]、PFG值[(19.39±6.45)kg、ADL评分(28.75±1.07)分]，且组间差异均有统计学意义( P<0.05)。 结论:ESW联合肱骨外上髁及冈下肌内热针较单用ESW治疗肱骨外上髁炎疗效显著。

目的 探讨多药耐药基因1(MDR1)单核苷酸多态性与癫痫性脑病耐药的相关性.方法 收集2015年12月至2018年3月就诊的癫痫性脑病患儿71例及药物敏感患儿75例,应用PCR技术及DNA测序方法对rsl922242、rs2235048、rs10808072、rs868755、rsl202184单核苷酸位点进行基因分型.结果 5个基因单核苷酸多态性位点等位基因频率比较,P值均＞0.05,差异均无统计学意义.5个基因单核苷酸多态性位点基因型在三种模型:共显性模型、显型模型、隐性模型比较后发现P值均＞0.05,差异也无统计学意义.在SHEsis软件进行单体型分析时发现9种常见的单体型,其中T—T—G—C—A单体型频率风险明显偏高,P=0.002＜0.05,差异有统计学意义,OR值[95％CI]为3.261[1.513～7.030],该单体型可能与癫痫性脑病耐药存在相关性.结论 MDR1基因多态性位点等位基因频率及基因型频率与癫痫性脑病耐药无关.T—T—G—C—A单体型与癫痫性脑病耐药具有相关性.通过MDR1基因单体型分析可以在药物治疗前预测抗癫痫药物的反应.

Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

OBJECTIVE:To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.METHODS:The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology.RESULTS:The proband, a 7-year-and-8-month-old boy, presented with thin curly hair, thin and sparse eyebrow, xerosis cutis, susceptibility to hyperthermia from childhood, hypohidrosis, sharp/sparse/absent teeth, saddle nose, prominent forehead, auricle adulation and seizure. He was found to have a normal chromosomal karyotype, and no abnormality was found by Trio-WES. Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1 (chrX: 68 796 566-69 138 468). As verified by PCR-electrophoresis, the deletion has removed part of the EDA gene. The deletion was derived from his mother with normal hair, mild xerosis cutis, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).CONCLUSION:Both the proband and his mother have carried a Xq13.1 microdeletion involving part of the EDA gene. The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED, for which partial deletion of the EDA gene is probably accountable.

小腿后侧疼痛是中老年人常见的症状,但临床中有些病人并不能得到有效的诊断和治疗.如腓肠肌损伤所致的小腿后侧疼痛并未引起足够的重视,经常会被误诊为腰椎间盘突出症、坐骨神经痛及膝关节退变等而延误治疗 [1].目前国内外关于腓肠肌损伤所致的小腿后侧疼痛的研究并不多见 [2],临床中针对小腿后侧疼痛治疗方法有冷气雾剂冷喷法、局部注射治疗及拉伸康复治疗等.近年来,冲击波对慢性软组织损伤有明显的效果 [3],但尚未见有关治疗腓肠肌慢性损伤导致的小腿后侧疼痛的报道.我科采用冲击波对小腿后侧疼痛病人进行治疗取得了较好地临床效果,现报道如下.

Objective:To evaluate the effect of orexin-A on programmed necrosis during cerebral ischemia-reperfusion (I/R) in rats.Methods:Thirty clean-grade healthy adult male Spraugue-Dawley rats, weighing 280-320 g, were divided into 3 groups ( n=10 each) using a random number table method: sham operation group (Sham group), cerebral I/R group (I/R group) and orexin-A group (OA group). In I/R and OA groups, a rat model of global cerebral I/R injury was established by transesophageal cardiac pacing-induced cardiac arrest and cardiopulmonary resuscitation in anesthetized animals.Orexin-A 30 μg/kg (diluted to 0.5 ml in phosphate buffer solution) was intravenously injected at 10 min before establishing the model in OA group.Phosphate buffer solution 0.5 ml was intravenously injected at 10 min before establishing the model in Sham and I/R groups.The neurological deficit score (NDS) was assessed at 24 h of reperfusion, then the rats were sacrificed, and bilateral hippocampal tissues were obtained.The morphological structure of pyramidal cells in the hippocampal CA1 region was examined after HE staining, and normal pyramidal cells were counted.Western blot was used to detect the expression of receptor-interacting protein 1 (RIP1), RIP3 and mixed-lineage kinase domain-like protein (MLKL). Immuno-histochemistry was used to count RIP1, RIP3 and MLKL positive cells in the hippocampal CA1 region.The activity of superoxide dismutase (SOD) in hippocampi was determined by xanthine oxidase method, and the content of malondialdehyde (MDA) in hippocampi was determined by thiobarbituric acid method. Results:Compared with Sham group, the normal pyramidal cell count in the hippocampal CA1 region was significantly decreased, NDS was increased, the expression of RIP1, RIP3 and MLKL protein was up-regulated, the positive cell count was increased, the content of MDA in hippocampi was increased, and the activity of SOD in hippocampi was decreased in I/R and OA groups ( P<0.05). Compared with I/R group, the count of normal pyramidal cells in the hippocampal CA1 region was significantly increased, NDS was decreased, the expression of RIP1, RIP3 and MLKL protein was down-regulated, the count of positive cells was decreased, the content of hippocampal MDA was decreased, and the activity of hippocampal SOD was increased in OA group ( P<0.05). Conclusion:The mechanism by which orexin-A reduces cerebral I/R injury may be related to inhibiting programmed necrosis in rats.

骨关节炎(osteoarthritis,OA)是中老年人的常见病和多发病,其中膝关节受累最为常见.多种细胞因子在骨关节炎发生发展过程中起重要作用,尤以血管内皮生长因子(vascular endothelial growth factor,VEGF)、白细胞介素-6(Interleukin-6,IL-6)、白细胞介素-1β (Interleukin-1β,IL-1β)和肿瘤坏死因子-α(Tumor necrosis factor-α,TNF-α)最为重要.膝骨关节炎(knee osteoarthritis,KOA)是以关节的疼痛、僵硬肿胀,甚至功能丧失为临床表现的一种慢性退行性疾病[1].目前治疗方法很多,其中关节内激素注射在临床中应用最为广泛,且疗效确切,但由于激素的不良反应及在糖尿病等疾病中应用的限制,迫切需要一种新的治疗方法来替代.

目的 分析并总结结节性硬化症(Tuberous sclerosis,TSC)伴癫痫发作患儿临床及视频脑电图(VEEG)特征.方法 收集郑州儿童医院2016年1月-2019年5月收治的符合2012年修订的TSC诊断标准的30例TSC患儿的临床资料,其中伴癫痫发作患儿29例.对其皮肤病变、影像学、癫痫发作及长程VEEG特征进行回顾性分析.结果 30例患儿,平均年龄(2.88±2.64)岁,男12例,女18例,其中1例腰酸为首发症状,29例以癫痫为首发症状,癫痫发生率较高,且起病年龄多在1岁以内;TSC可对认知造成不同程度的影响;色素脱失或牛奶咖啡斑是低龄儿童最常见的皮肤改变;TSC伴婴儿痉挛症发生率高;＜10岁儿童除神经系统病变外可伴有其他器官的病变(1例),但其他器官病变发生率相对较低.TSC伴癫痫发作患儿大多伴EEG异常放电.结论 TSC伴癫痫发作临床特点具有多样性,早期诊断是关键.

目的 探讨在输尿管结石的临床治疗中,应用钬激光碎石术与体外冲击波碎石术治疗的疗效差别,并为输尿管结石的有效治疗选择提供有力依据.方法 选取2018年1月-2018年8月来郑州大学附属郑州中心医院治疗的输尿管结石患者68例,将患者随机分组,其中采用钬激光碎石术进行治疗患者为观察组,采用体外冲击波碎石术进行治疗患者为对照组,每组均为34例,对两组患者治疗后的结石排净率和并发症进行对比.结果 观察组患者输尿管结石排净情况优于对照组,排净率较高为94.11％,高于对照组的73.53％,P＜0.05差异具有统计学意义;观察组术后并发症发病率较对照组低,为5.88％,优于对照组的32.35％,P＜0.05差异具有统计学意义.结论 钬激光碎石术在输尿管的临床治疗中疗效更好,值得临床广泛推荐、应用.

Objective To evaluate the therapeutic effect by the combination of silver needle and pulsed radiofrequency applied to C2 dorsal root ganglion in the treatment of patients with cervicogenic headache.Methods Eighty-six patients with cervicogenic headache of both sexes,aged 14-71,from October 2013 to August 2015 in the Second Affiliated Hospital of Zhengzhou University,were randomly divided into radiofrequeucy group (43 cases) and combined group (43 cases).Patients were treated with pulsed radiofrequency at C2 dorsal root ganglion in the radiofrequency group.Silver needle treatment was used after the pulsed radiofrequency at C2 dorsal root ganglion in the combined group.VAS and pressure pain threshold (PPT) were evaluated at 1 day,3 months and 12 months after the treatment.Results No differences were found in VAS and PPT before the treatment between the two groups (P＞0.05).Compared with pre-treatment,VAS decreased significantly at 1 day,3 months,12 months after the treatment in the two groups (P＜0.05).VAS was even lower significantly at 3,12 months after the treatment in the combined group than that in the radiofrequency group (P＜0.05).Compared with pre-treatment,PPT increased significantly at 3,12 months after the treatment in the two groups (P＜0.05).PPT and the effective rate were even higher significantly at 3,12 months after the treatment in the combined group than those in the radiofrequency group (P＜0.05).Conclusion Silver needle and pulsed radiofrequency at C2 dorsal root ganglion is effective in the treatment of patients with cervicogenic headache,and its long-term effect is better than C2 dorsal root ganglion pulse radiofrequency therapy alone.

Objective To retrospectively analyse the genetic characteristics, diagnosis, treatment and prognosis of special AT-rich binding protein 2 (SATB2)-associated syndrome. Methods Clinical data of one case of SATB2-associated syndrome diagnosed in Children′s Hospital Affiliated to Zhengzhou University in January 2018, were collected including clinical test, treatment plan, follow-up outcomes. The clinical characteristics of SATB2-associated syndrome were analyzed, and literature review was conducted. Results The female proband, eight-year-old, were admitted with the clinical manifestations including epilepsy seizures, delayed language development, sparse hair, long face, prominent forehead, long nose, lower eyelid cleft oblique, low ear, smooth philtrum, small mandible, sparse teeth arrangement, and lack of some teeth. The intelligence quotient score was 49. The brain magnetic resonance imaging showed myelinated dysplasia. Long-range video-electroencephalography showed spike-wave activity, slow spike-wave discharges in the bilateral middle and posterior temporal regions. The trio whole exome sequencing (trio WES) test showed that the proband carried a heterozygous nonsense mutation c.1300 C>T (p.Gln434Ter) in the SATB2 gene, and the muation was de novo comfirmed by pedigree analysis. Thirty-seven literatures relevant to SATB2-associated syndrome, from January 1989 to June 2019, were retrieved. Threre were 23 overseas literatures and one domestic report, including a total number of 158 cases. There were 49 missense mutations, 38 nonsense mutations, 32 frameshift mutations, seven splicing-site mutations, six translocation mutations, one insertion mutation, 22 gene-deletions and three gene-duplications. Among the 158 reported cases, 90 were male and 62 female, sex was not described in six cases. One hundred and fifty-eight (100.0%) patients had mental retardation, 44 (30.6%) with growth retardation, 107 (84.3%) with facial deformities, 70 (45.5%) with cleft palate, 135 (98.5%) with dental abnormalities, 66 (43.4%) with language retardation, 29 (20.0%) with epileptic seizures, and 50 (46.3%) with neuroimaging abnormalities. Conclusions The main clinical manifestations of SATB2-related syndromes are severe developmental retardation, low intelligence, delayed language development, language deficiency, high palatal arch and cleft palate, rare epilepsy seizures, dental anomalies and scant hair. The study identified a novel nonsense mutation c. 1300 C>T (p. Gln434Ter) in the SATB2 gene, which is responsible for the development of SATB2-associated syndrome.

目的 探讨质量分数10％鸦胆子油乳(Brucea javanica oil emulsion,BJOE)对戈舍瑞林去势抵抗性前列腺癌PC3细胞株化疗敏感性的影响及机制.方法 对数生长期戈舍瑞林去势抵抗性前列腺癌PC3细胞株分为空白组、BJOE组、多西他赛组、多西他赛+BJOE组,细胞培养液中分别加入磷酸盐缓冲液、质量分数10％ BJOE、0.6μg/L多西他赛、质量分数10％ BJOE+0.6 μg/L多西他赛进行干预.培养24、48、72 h时,采用MTT法检测4组细胞增殖抑制率;培养48 h时,采用流式细胞术检测4组细胞凋亡率,采用Hoechst 33258染色观察细胞形态学变化,采用实时荧光定量PCR法检测4组细胞B淋巴细胞瘤-2基因(B-cell lymphoma-2,Bcl-2)、Bcl-2相关X蛋白(Bcl-2 associated X protein,Bax)、caspase-3 mRNA相对表达量,采用Western blot法检测4组细胞Bcl-2、Bax和caspase-3蛋白相对表达量.结果 培养24、48、72 h时,多西他赛+BJOE组、多西他赛组、BJOE组细胞增殖抑制率依次降低(P＜0.05),3组细胞增殖抑制率均随时间延长而增高(P＜0.05);培养48 h时,空白组细胞核圆形或椭圆形,细胞质分布均匀;BJOE组、多西他赛组、多西他赛+BJOE组部分细胞呈不规则状态,染色质固缩、体积缩小,部分出现蓝色凋亡小体,其中多西他赛+BJOE组凋亡现象最明显;培养48 h时,多西他赛+BJOE组、多西他赛组、BJOE组、空白组细胞凋亡率[(28.71±3.15)％、(18.85±2.03)％、(14.62±1.57)％、(9.10±1.02)％]依次降低(P＜0.05),Bcl-2 mRNA和蛋白相对表达量依次增高(P＜0.05),Bax、caspase-3 mRNA和蛋白相对表达量依次降低(P＜0.05).结论 质量分数10％ BJOE与多西他赛联用可抑制戈舍瑞林去势抵抗性前列腺癌细胞增殖,促进细胞凋亡,增强细胞对多西他赛化疗敏感性,可能与下调Bcl-2 mRNA和蛋白表达,上调Bax、caspase-3 mRNA和蛋白表达有关.

尺骨茎突腱鞘炎又名尺侧腕伸肌腱鞘炎,在所有发病的腱鞘炎病人中较为少见,约占5％左右,其临床症状主要表现为尺骨茎突处疼痛,疼痛可沿尺侧向肘部延伸,或延伸至第3至5掌骨手背侧,疼痛性质多表现为钝痛 [1].体格检查发现尺骨茎突处压痛强阳性,前臂旋后、腕关节背伸等动作可加重疼痛.由于较低的发病率及临床医生经验不足,常引起误诊.

目的 探讨Dravet综合征(Dravet syndrome,DS)患儿SCN1A基因片段缺失及重复发生可能性与类型.方法 100例DS患儿,采用PCR扩增方法及基因测序法,提取其DNA,采用PCR-DNA直接测序法和多重连接依赖的探针扩增技术对SCN1A基因突变进行筛查,并利用捕获测序癫痫基因检测包对无SCN1A基因突变的家系实施筛查,分析结果呈阳性的患儿及其父母的外周血DNA和临床资料,筛查SCN1A基因片段缺失与重复情况.结果 100例患儿中,SCN1A基因突变阳性72例,阴性28例;28例SCN1A基因阴性患儿中,SCN1A基因片段缺失或重复10例,其中1-26外显子均缺失2例,部分外显子缺失7例,3-10外显子重复1例,10例中8例可能为新发突变;10例基因片段缺失或重复DS患儿中,发病年龄为4～8个月,首次发作年龄＜7个月者8例,发作持续时间＞15 min患儿9例,24 h内出现热性惊厥≥2次患儿9例.结论 DS基因突变呈阴性患儿中基因片段缺失或重复发生率较低,需行多重连接依赖的探针扩增技术筛查,DS基因突变呈阳性患儿中基因片段缺失或重复发生率较高,常见于4～7个月婴幼儿,且以新发为主.

目的 探讨家族性Dravet综合征家系基因突变情况.方法 90例Dravet综合征患儿及其家属,采用PCR法提取外周血DNA,采用基因测序法和多重连接依赖的探针扩增技术对SCN1A基因突变进行筛查,并采用捕获测序癫痫基因检测包对无SCN1A基因突变的家系进行筛查.结果 90例患儿中62例发生SCN1A基因突变,SCN1A基因突变率68.89％,其中错义突变29例,截断突变26例,剪切位点突变5例,SCN1A基因片段重复或缺失2例;有5个家系携带SCN1A基因突变,其中3个家系属SCN1A遗传性杂合突变,来自母源,母亲临床表型是Dravet综合征或热性惊厥,余2个家系测序结果可能为父母一方为SCN1A突变嵌合体,父母临床表型正常.结论 家族性Dravet综合征多是SCN1A基因突变导致.