专家综述

融合基因分析方法在肿瘤研究中的应用与发展

Development and application of fusion gene analysis methods in tumors research

:1-8
 
融合基因是指两个独立基因的编码区首尾相连所形成的且置于同一套调控序列控制的产物,研究表明许多癌症的发生与融合基因存在密切的联系。融合基因可作为癌症治疗的靶点,在癌症诊断及治疗领域中融合基因的研究具有重要意义。部分融合基因驱动癌症的机制已被初步揭示,但是有些真实存在的在肿瘤发生发展过程中有重要意义的融合基因由于工具和实验技术限制还未被发现。因此,对融合基因的分析预测研究方法逐渐成为关注的热点之一。本文探讨了目前常用的关于融合基因的分析工具及方法,为融合基因在癌症中的研究提供思路。
Fusion genes are the products of two independent genes whose coding regions are linked and controlled by the same set of regulatory sequences.Studies have shown that many cancers are closely linked to gene fusions.Fusion genes can be used as targets for cancer therapy,and the study of fusion genes is of great importance in cancer diagnosis and treatment.Some of the mechanisms of fusion genes driving cancer have been initially revealed,but there are more fusion genes which are important in the process of tumor development have not been discovered due to the limitation of tools and experimental techniques.Therefore,the analysis and prediction methods of fusion genes are becoming a hot topic of interest.In this paper,we discuss the commonly used analytical tools and methods on fusion genes to provide ideas for the study of fusion genes in cancer.
临床诊疗

MRI检查FLAIR序列HVS对MCA供血区域的诊断价值

:94-97
 
目的 探讨MRI液体衰减反转恢复序列(FLAIR)高信号血管征(HVS)对大脑中动脉(MCA)供血区域的诊断价值。方法 选择2021年1月—2022年10月期间我院收治的66例MCA急性脑梗死患者,观察HVS检出情况、HVS检出率与血管狭窄之间的关系及HVS对MCA急性脑梗死患者病情程度及预后的诊断价值。结果 66例MCA急性脑梗死患者中,MRI FLAIR序列检查示有HVS(HVS阳性)40例,无HVS(HVS阴性)26例。轻度狭窄、重度狭窄和闭塞分别为26、24、16例,HVS阳性者的狭窄程度较HVS阴性者严重(P<0.05)。HVS对MCA急性脑梗死患者病情程度的诊断价值:HVS阳性者梗死面积为(86.02±10.26)cm2,大于HVS阴性者的(72.36±9.01)cm2。HVS阳性者在入院时的美国国立卫生研究院卒中量表(NIHSS)评分为(12.87±2.36)分,高于HVS阴性者的(10.28±2.07)分(P<0.05)。结论 MRI FLAIR序列示HVS对判断MCA供血区域梗死有一定价值,有助于MCA供血区急性脑梗死的诊断,对临床预后的评估也具有一定意义。
论著

血清ADPN、CA125及AMH检测在PCOS中的临床分析

Clinical diagnostic value of serum ADPN,CA125 and AMH levels in polycystic ovary syndrome

:79-83
 
目的 探讨血清脂联素(ADPN)、糖类抗原125(CA125)及抗苗勒管激素(AMH)水平检测在多囊卵巢综合征(PCOS)中的临床诊断价值。方法 选取2022年1月—2022年9月在东莞市中医院经鹿特丹诊断标准确诊的100例PCOS患者作为PCOS组;PCOS组通过测定患者体质量指数(BMI)是否大于28 kg/m2分为肥胖组和非肥胖组;测定患者的睾酮水平的高低是否大于80 ng/dL分为高雄激素组和非高雄激素组。另选身体健康、年龄与PCOS组相近的100名健康女性作为对照组。分别测定PCOS组和对照组的ADPN、CA125以及AMH,分析血清ADPN、CA125、AMH在PCOS患者中的检测价值。结果 POCS组的BMI、AMH、CA125、睾酮、ADPN与健康组比较差异均有统计学意义(P<0.05)。与对照组比较,PCOS组的BMI、AMH、CA125、睾酮水平升高、ADPN水平降低。PCOS患者的CA125与AMH水平呈正相关(P<0.05),ADPN与AMH无关(P>0.05)。结论 PCOS 患者血清CA125和AMH水平升高,ADPN水平降低。
Objective To explore the clinical diagnostic value of serum adiponectin(ADPN),carbohydrate antigen 125(CA125)and anti-Mullerian hormone(AMH)levels in polycystic ovary syndrome(PCOS).Method A total of 100 patients confirmed with PCOS in Dongguan Traditional Chinese Medicine Hospital from January 2022 to September 2022 were selected as the study subjects.All patients were diagnosed with PCOS according to the 2003 Rotterdam diagnostic criteria,and served as the PCOS group.The PCOS group was divided into obese and non obese group by measuring the patient’s body mass index(BMI)whether was greater than 28 kg/m2.A high androgen group and a non high androgen group were determined by whether the patient’s testosterone level is greater than 80 ng/dL.A hundred healthy women of similar age were selected as the healthy control group.The levels of ADPN,CA125 and AMH were measured in the experimental and control group,and their detection value were analyzed.Results BMI,AMH,CA125,testosterone and ADPN in the POCS group were statistically different compared to the healthy group(P<0.05).Compared with the PCOS group,the control group showed a significant increase in BMI,AMH,CA125 and testosterone levels,while the PCOS group showed a decrease in ADPN level.There was a positive correlation between CA125 and AMH in patients with PCOS,while there was no correlation between ADPN and AMH.Conclusions The levels of serum CA125 and AMH in PCOS patients significantly increased,while the level of ADPN decreased.The three indicators have good diagnostic value in PCOS and are worth promoting.
论著

小于4 cm胃神经鞘瘤CT误诊与漏诊分析

Gastric schwannomas less than 4 cm:analysis of CT misdiagnosis and missed diagnosis

:46-51
 
目的 探讨小于4 cm的胃神经鞘瘤(GS)的CT误诊与漏诊原因,从而加深影像科医师对GS的认识,提高其CT检出率及诊断准确率。方法 回顾性分析2019年3月—2022年10月经手术切除及病理证实的10例小于4 cm的GS患者的临床、CT及病理资料。在CT图像上评估肿瘤的位置、大小、形态、密度、强化特点及周围淋巴结等情况。结果 术前CT误诊7例,漏诊2例,仅1例正确诊断;10例病灶均起源于胃黏膜下;9例为圆形或类圆形;7例发生于胃体;平扫密度均低于肌肉组织,均呈渐进性强化。结论 小于4 cm的GS术前误诊率很高,且可发生漏诊。当CT检查提示胃体部黏膜下圆形或类圆形占位病变,平扫呈均匀稍低密度,增强呈渐进性强化时应考虑GS的可能,最终确诊需病理及免疫组化检查。
Objective To investigate the causes of CT misdiagnosis and missed diagnosis of gastric schwannomas(GS)smaller than 4 cm in size,and to improve radiologists’ awareness of GS and increase the detection rate and diagnostic accuracy.Methods Clinical,pathological and CT data of ten surgically and pathologically confirmed GS patients were retrospectively reviewed between March 2019 and October 2022.The location,size,shape,attenuation,enhancement features and surrounding lymph nodes of each tumor on CT were analyzed.Results Of the 10 patients,7 cases were misdiagnosed in preoperative CT examination,two cases were missed diagnosed and only one case was correctly diagnosed.All tumors originated from the submucosa in ten cases,and nine cases showed a round or oval shape.Seven lesions were located in the gastric body,and all tumors had homogeneous low attenuation compared to muscle on plain CT images.All cases displayed mild-moderate to obvious enhancement.Conclusions GS smaller than 4 cm have a high rate of misdiagnosis and missed diagnosis preoperatively.When CT examination indicates a submucosa tumor with a round-like shape in the gastric body and homogeneous mild hypoattenuation on plain CT,the possibility of GS should be raised.Pathological and immunohistochemical examinations are necessary to confirm the final diagnosis.
论著

腹主动脉瘤腔内修复术后瘤体直径及体积变化的随访研究

Changes in aneurysm diameter and volume after endovascular aneurysm repair of abdominal aortic aneurysm

:34-39
 
目的 探讨腹主动脉瘤腔内修复术后瘤体直径和瘤体体积的转归以及与术后内漏的关系。方法 回顾性分析2015年—2020年在我院行腹主动脉瘤腔内修复术的83例患者的临床及影像学资料。测量术前和术后各随访时间点瘤体最大直径及体积。CT评价术后内漏发生情况。定义瘤体(直径/体积)扩张/回缩及瘤体(直径/体积)稳定。以术前瘤体最大直径大小和术后内漏发生情况将患者分组,比较组间各随访时点的瘤体直径和体积转归情况。结果 患者术后平均随访时间24(10~62)个月。以瘤体直径<50 mm及≥50 mm分组,术后各随访时间点2组间瘤体体积及瘤体直径比较均无统计学差异。以术后有无内漏分组,术后各随访时间点组间比较瘤体体积变化比较差异均有统计学意义(P<0.05),但瘤体直径变化组间比较差异均无统计学意义。结论 主动脉瘤瘤体体积与直径变化并不存在一致性,监测瘤体体积可以发现那些直径变化不明显的瘤体变化;腹主动脉瘤腔内修复术后内漏可能是导致瘤体增大的因素之一。
Objective To evaluate the outcome of aneurysm diameter and volume,and the role of endoleak after endovascular aneurysm repair of abdominal aortic aneurysm.Methods The clinical and imaging data from 83 patients who underwent endovascular repair of abdominal aortic aneurysm in our hospital from 2015 to 2020 were retrospectively analyzed.The maximum aneurysm diameter and volume were measured at the preoperative and postoperative follow-up time points.CT was used to evaluate the incidence of postoperative leakage.The aneurysm(diameter/volume)expansion/shrinkage and aneurysm(diameter/volume)stability were defined.Patients were divided into different groups according to the maximum preoperative aneurysm diameter and the incidence of postoperative endoleak,and the outcomes of aneurysm diameter and volume were compared at established follow-up points.Results The mean follow-up time was 24(10-62)months.There were no statistically significant differences in postoperative aneurysm volume and diameter at follow-up points between the patients with aneurysm diameter <50 mm and patients with aneurysm≥50 mm.There were statistically significant differences in postoperative aneurysm volume between the patients with postoperative endoleak and patients without postoperative endoleak(P<0.05).However,there were no statistically significant differences in postoperative diameter between the two groups.Conclusions The changes of aneurysm volume and diameter were not closely related,and the detection of aneurysm volume can help to find the aneurysm changes with no obvious diameter changes.The postoperative endoleak after endovascular aneurysm repair may be one of the factors leading to aneurysm enlargement.
论著

丹酚酸B对去卵巢骨质疏松小鼠的生物学变化及机制

Biological changes and mechanism of salvianolic acid B in ovariectomized osteoporosis mice

:23-27
 
目的 丹酚酸B是传统中药丹参的重要生物活性组分,临床应用广泛。新近发现,丹酚酸B具有防治骨质疏松的作用。本研究拟在前期工作基础上,系统地研究丹酚酸B对去卵巢骨质疏松小鼠的作用,探讨其对小鼠间充质干细胞(MSCs)成骨分化的影响。方法 将18只8周龄SPF级别的C57雌性小鼠分为假手术组、骨质疏松组、丹酚酸B治疗组。骨质疏松组和丹酚酸B治疗组行双侧卵巢摘除术。而假手术组则保持正常的卵巢结构,同时去除局部的脂肪。3组均于术后3日内给予抗生素进行抗感染治疗。4周内,丹酚酸B治疗组给予丹酚酸B 2.5 mg/kg腹腔注射,连续12周,2天1次,其余2组在相同的时间内给予等量生理盐水。16周后,在麻醉状态下将所有小鼠处死。应用MicroCT测量了小鼠右后股骨的骨密度。采用qRT-PCR技术,分析小鼠左后股骨骨髓MSCs中Runx2和Osterix的表达。将小鼠右后股骨进行液氮研磨处理,提取蛋白质,用WB法测定OPG和RANKL的含量。结果 骨质疏松组小鼠股骨骨密度比假手术组低(P<0.05),丹酚酸B治疗组小鼠股骨骨密度比骨质疏松组高,但差异无显著性意义(P<0.05)。骨质疏松组小鼠Runx2和Osterix水平低于假手术组(P<0.05),丹酚酸B治疗组小鼠Runx2和Osterix水平比骨质疏松组高(P<0.05)。骨质疏松组小鼠OPG和RANKL蛋白水平低于假手术组(P<0.05),丹酚酸B组小鼠OPG和RANKL蛋白水平比骨质疏松组高(P<0.05)。结论 绝经后骨质疏松症早期对小鼠的骨质疏松具有一定的影响,但还需要更多的实验来验证本研究的结论。
Objective Salvianolic acid B is an important bioactive component of traditional Chinese medicine Salvia miltiorrhiza and is widely used in clinic.Recently,salvianolic acid B has been found to have the effect of preventing osteoporosis.On the basis of previous work,this study intends to systematically explore the effect of salvianolic acid B on ovariectomized mice with osteoporosis,and its effect on the osteogenic differentiation of mouse mesenchymal stem cells(MSCs).Methods Eighteen eight-week-old SPF C57 female mice were divided into sham operation group,osteoporosis group and salvianolic acid B treatment group(6 mice in each group).The osteoporosis group and salvianolic acid B group underwent bilateral ovariectomy.The sham group maintained normal ovarian structure while removing local fat tissue.All three groups were given antibiotics for anti-infection treatment within 3 days after operation.Within 4 weeks,salvianolic acid B treatment group was given salvianolic acid B 2.5 mg/kg intraperitoneal injection for 12 weeks,once every 2 days,and the other 2 groups were given the same amount of saline at the same time.After 16 weeks,all mice were sacrificed under anesthesia.The bone density of the mouse right posterior femur was measured by MicroCT.The expressions of Runx2 and Osterix in the bone marrow of mouse left posterior femur were analyzed by qRT-PCR.The right posterior femur of mice was ground with liquid nitrogen to extract protein,and the contents of OPG and RANKL were determined by WB.Results The bone mineral density of the femur in the osteoporosis group was lower than that in the sham operation group(P<0.05),and the bone mineral density of the femur in the salvianolic acid B treatment group was higher than that in the osteoporosis group,but the difference was not significant(P<0.05).The levels of Runx2 and Osterix in the osteoporosis group were significantly lower than those in the sham operation group(P<0.05),and the levels of Runx2 and Osterix in the salvianolic acid B treatment group were higher than those in the osteoporosis group(P<0.05).The levels of OPG and RANKL protein in the osteoporosis group were significantly lower than those in the sham operation group(P<0.05),while the levels of OPG and RANKL protein in the salvianolic acid B group were higher than those in the osteoporosis group(P<0.05).Conclusions The early stage of postmenopausal osteoporosis has certain effects on osteoporosis in mice,but more experiments are needed to verify the conclusions of this study.
论著

一次性使用电子宫腔镜与可重复使用宫腔镜用于门诊宫腔镜检查的多中心随机对照研究

A multicenter randomized controlled study of single-use digital hysteroscope versus reusable hysteroscope for outpatient hysteroscopy

:16-22
 
目的 比较采用一次性使用电子宫腔镜与可重复使用宫腔镜用于门诊宫腔镜检查的有效性与安全性。方法 采用平行随机对照的方法,在3间临床试验研究机构同时进行,一次性使用电子宫腔镜用于宫腔镜检查者82例为试验组,Storz Bettochi检查镜进行检查者82例为对照组。记录2组患者宫腔影像的临床诊断符合率、操作性能评分、不良事件发生率。结果 试验组临床诊断要求符合率98.8%(80/82),对照组临床诊断要求符合率100%(82/82);试验组与对照组宫腔影像的临床诊断要求符合率的差值为-1.22%,试验组和对照组符合率差值的95%可信区间下限为-3.60%,大于非劣效界值-10.00%。试验组与对照组之间的操作性能评分比较差异无统计学意义(P>0.05)。试验组不良事件发生率11.0%(9例,9件),严重不良事件发生率1.2%(1例,1件);对照组中不良事件发生率9.8%(8例,9件),严重不良事件发生率0%(0例,0件);不良事件发生率和严重不良事件发生率的组间比较差异均无统计学意义(P>0.05)。结论 一次性使用电子宫腔镜用于提供患者子宫内图像,整体性能与可重复使用的电子宫腔镜相当,并且安全性好。试验用一次性使用电子宫腔镜的使用性能可满足临床宫腔镜手术的需求,可作为宫腔镜技术的补充手段。
Objective To compare the efficacy and safety of single-use digital hysteroscope and reusable hysteroscope for outpatient hysteroscopy.Methods A parallel randomized control method was used in three clinical trials institutions.Eighty-two cases of outpatient patients who used single-use digital hysteroscope for hysteroscopy were included in experimental group,and 82 cases who underwent hysteroscopy by reusable hysteroscope(Storz Bettochi)were included in control group.The clinical diagnosis coincidence rate,performance score and incidence of adverse events of uterine imaging were recorded in the two groups.Results The coincidence rate of clinical diagnosis in the experimental group was 98.8%(80/82),1.22% lower than the 100%(82/82)in control group.And the difference of lower limit of 95% confidence interval between the experimental group and the control group was-3.60%,which was greater than the non-inferiority margin-10.00%.There was no significant difference in performance scores between the experimental group and the control group(P>0.05).The incidence of adverse events in the experimental group was 11.0%(9 cases,9 events),and serious adverse events incidence was 1.2%(1 case,1 event).In the control group,the incidence of adverse events was 9.8%(8 cases,9 events),and no serious adverse events occurred(0 cases,0 events).There was no significant difference in the incidence of adverse events or serious adverse events between two groups.Conclusions The overall performance of single-use digital hysteroscope for providing intrauterine images,observation and diagnosis is comparable to that of reusable hysteroscope,and the safety is also comparable.The performance of the single-use digital hysteroscope can meet the needs of outpatient hysteroscopy,and it can be an effective supplementary hysteroscopy technology.
论著

乙型肝炎病毒感染对妊娠期糖尿病孕妇的结局分析

Analysis of outcome in gestational diabetes mellitus pregnant women with hepatitis B virus infection

:11-15
 
目的 探讨慢性乙型肝炎病毒(HBV)感染对妊娠期糖尿病(GDM)孕妇的妊娠并发症、孕晚期生殖道B族链球菌(GBS)感染情况以及妊娠结局的影响。方法 选取2020年1月1日—12月31日在广州市妇女儿童医疗中心定期产检、足月、单胎妊娠的GDM孕妇共583例,其中合并HBV感染者(GDM+HBV组)48例,无合并者(GDM组)535例。比较2组的妊娠期并发症、妊娠晚期(妊娠35~37周)生殖道GBS感染情况、妊娠结局以及阴道分娩者的母儿结局。结果 与GDM组患者相比,GDM+HBV组患者出现妊娠期肝内胆汁淤积症、孕晚期生殖道GBS感染者比例较高,孕期出现胎盘早剥者比例较高,阴道分娩过程中出现产时发热、羊水粪染和新生儿入住NICU者比例均较高(均P<0.05)。结论 与无合并慢性HBV感染的GDM患者相比,合并慢性HBV感染的GDM患者在围产期的母儿风险升高。
Objective To investigate the effects of chronic hepatitis B virus(HBV)infection on pregnancy complications,group B streptococcus(GBS)infection in third trimester and pregnancy outcome in pregnant women with gestational diabetes mellitus(GDM).Methods A retrospective study of 583 pregnant women with GDM,singleton gestation and cephalic presentation delivered at term in Guangzhou Women and Children’s Medical Center was carried out.Including 48 GDM women complicated with chronic HBV infection(GDM+HBV group)and 535 GDM women without HBV infection(GDM group).Pregnancy complications,GBS infection in third trimester(gestation 35-37 weeks),pregnancy outcomes,maternal and neonatal outcomes of vaginal delivery were compared between the two groups.Results GDM+HBV group had a higher proportion of intrahepatic cholestasis of pregnancy(ICP)and GBS infection in third trimester than GDM group,and a higher proportion of placental abruption during pregnancy.GDM+HBV group showed a significantly increased proportion in intrapartum fever,meconium-stained amniotic fluid and neonatal intensive care unit admission during vaginal delivery than GDM group(all P<0.05).Conclusions GDM women with chronic HBV infection are associated with increased maternal and fetal risk during pregnancy and delivery.
综述

白内障超声乳化术对糖尿病患者眼表影响的研究进展

Research progress on the effects of phacoemulsification on the ocular surface in patients with diabetes mellitus

:112-119
 
糖尿病已成为全球最严重的健康问题之一。需要白内障手术的糖尿病患者也日益增多,虽然糖尿病的眼表并发症很常见,但由于糖尿病患者全身和眼部疾病十分复杂,使得眼前段如角结膜和泪腺的糖尿病并发症往往被忽视。糖尿病患者白内障超声乳化术有引发或加重眼前节疾病的风险,包括干眼病(DED)、角膜上皮糜烂、上皮缺损迁延不愈,甚至威胁视力的角膜溃疡。这些风险里最为常见的是DED,并且可能因白内障超声乳化手术而加重。眼科医生需要在手术前预先评估已存在的DED是否需要术前治疗,并且需要注意在已存在 DED 的情况下,各项术前检查数据测量的准确性会降低,以及尽可能减少对眼表造成损害的各种手术因素;并考虑通过管理减少术后 DED。本综述就评估白内障超声乳化术对合并糖尿病的老年性白内障患者的眼表术中的影响因素进行分析。
Diabetes mellitus(DM)has become one of the most serious health problems in the world. The number of diabetic patients requiring cataract surgery is also increasing. Although ocular surface complications of DM are common,the complexity of systemic and ocular disease in diabetic patients makes diabetic complications in the anterior segment,such as the cornea and lacrimal gland,often be overlooked. Phacoemulsification in diabetic patients carries the risk of triggering or exacerbating ocular segment disease,including dry eye disease,corneal epithelial erosion,persistent epithelial defects and even vision-threatening corneal ulcers. The most common of these risks is dry eye disease,and it can be exacerbated by cataract phacoemulsification. Ophthalmologists need to preemptively assess the need for preoperative treatment of pre-existing dry eye disease(DED),be aware of the reduced accuracy of preoperative data measurements in the presence of DED,and minimize surgical factors that can damage the ocular surface;and consider management to reduce postoperative DED. In this review,we analyze the factors that influence phacoemulsification in ocular surface surgery for senile cataract patients with diabetes.
临床诊疗

血清外泌体中GP1BA的表达水平与动脉粥样硬化的相关性分析

:95-100
 
目的 探讨血清外泌体中糖蛋白 Ib 血小板亚基α(GP1BA)的表达水平与动脉粥样硬化的相关性。方法 选取福州市第二医院2022年1月—2023年1月收治的30例心电图提示ST-T改变及冠状动脉造影显示有AS斑块的患者为动脉粥样硬化组;30名健康志愿者为对照组。实时荧光定量(RT-qPCR)法和蛋白质印迹(WB)检测受试人员血清外泌体中GP1BA的表达量,ELISA法检测血清中肿瘤坏死因子α(TNF-α)、白细胞介素-1β(IL-1β)、干扰素-γ(IFN-γ)、高敏心肌肌钙蛋白(hs-cTnT)、血管性血友病因子(vWF)含量。采用Pearson相关系数分析血清外泌体中GP1BA的表达水平与TNF-α、IL-1β、IFN-γ、hs-cTnT、vWF的相关性。结果 动脉粥样硬化组血清外泌体中GP1BA的表达水平高于对照组,血清中TNF-α、IL-1β、IFN-γ、hs-cTnT、vWF含量升高(均P<0.05)。相关性分析发现GP1BA的表达水平与TNF-α、IL-1β、IFN-γ、hs-cTnT、vWF含量均呈较强正相关关系(均P<0.05)。结论 血清外泌体中GP1BA的表达水平与AS存在相关性,并可作为AS的潜在标志物。
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