青少年特发性脊柱侧凸患者雌激素受体基因多态性与骨密度的关系

目的探讨青少年特发性脊柱侧凸患者雌激素受体基因多态性与骨密度的关系。方法取青少年特发性脊柱侧凸女性患者92例,年龄10～19岁,Cobb角25°～134°,应用聚合酶链反应限制性片段长度多态(PCRRFLPs)的方法分析雌激素受体基因型,同时用双能X线骨密度吸收仪分别对其腰椎(L24)和股骨近端(股骨颈、大转子、Wards三角)的骨密度进行测量。结果特发性脊柱侧凸患者雌激素受体基因型PvuⅡ多态性PP,Pp,pp型分别为19.6%,46.7%,33.7%,XbaⅠ多态性XX,Xx,xx型分别为22.8%,33.7%,43.5%;XX型的腰椎、股骨大转子和Wards三角的骨密度明显低于xx型(P<0.05),而PvuⅡ基因的各基因型与骨密度无关;联合分析PvuⅡ和XbaⅠ位点,PPXX基因型的腰椎、股骨大转子和Wards三角的骨密度明显低于Ppxx和ppxx型(P<0.05)。结论雌激素受体XbaⅠ基因多态性与特发性脊柱侧凸患者的骨密度有关,PPXX基因型的骨密度较低,有助于较早发现特发性脊柱侧凸的低骨量者。     

安徽地区绝经后妇女雌激素受体基因多态性与骨密度的相关性研究

目的探讨安徽地区绝经后妇女雌激素受体（ER）基因多态性的分布及其与骨密度的相关性。方法随机选择288名安徽合肥地区健康绝经后妇女，运用双能X线骨密度吸收法（DEXA）测定腰椎和股骨颈、大转子骨密度（BMD），并采用PCR-RFLP（聚合酶链反应-限制性片断长度多态性）法分析ER基因多态性，并分析其相关性。结果安徽地区绝经后妇女ER基因型分布频率PP（13．2％）、Pp（45．8％）、pp（40．9％），XX（5．21％）、Xx（31．6％）、xx（63．2％），联合PvuⅡ和XbaⅠ这两种基因型后得到：PPXX（5．6％），PPXx（3．8％），PPxx（6．3％），PpXX（1．4％），PpXx（23．3％），Ppxx（25％），ppxx（34．7％），未检测到ppXX及ppXx型。PvuⅡ多态性与绝经后妇女腰椎BMD相关，PP基因型腰椎BMD显著低于pp和Pp基因型（P〈0．05），ER基因P等位基因是一种有益于骨量的基因型。XbaⅠ多态性与绝经后妇女各部位BMD间无明显相关性（P〉0．05）。联合分析PvuⅡ和XbaⅠ多态性与绝经后妇女BMD相关性发现，有Px单倍型的妇女腰椎部位的BMD显著低于无此单倍型的妇女（P〈0．01）。结论ER基因PVuⅡ多态性与绝经后妇女腰椎BMD有相关性，PP基因型妇女腰椎BMD减低，而具有Px单倍型的ER基因可能对BMD有不利影响。     

雌激素受体基因多态性与骨密度及骨代谢关系的研究

目的研究中国健康绝经后妇女的雌激素受体estrogenreceptorER基因多态性与骨密度bonemineraldensityBMD、骨代谢的关系。方法选取246名中国健康绝经后妇女,年龄44～78岁,平均61岁。运用双能X线骨吸收法分别对其腰椎L1～4和股骨股骨颈N、Ward区W、大转子T的BMD进行测量,并用生物化学的方法测其血清中钙Ca、磷P、碱性磷酸酶ALP、甲状旁腺激素PTH和降钙素CT的含量,用分子生物学的方法分析内切酶PvuⅡ、XbaⅠ限制性片段长度多态性restrictionfragmentlengthpolymorphism,RFLP,观查ER基因多态性与BMD及骨代谢的关系。RFLP用PpPvuⅡ和Xx(XbaⅠ)来表示。结果PPxx基因型BMD明显低于其它基因型。结论ER基因RFLP与绝经后妇女BMD有关,此即为中国妇女绝经后骨质疏松症发病的原因。     

雌激素受体α基因多态性与新疆维、汉两民族妇女腰椎峰值骨密度的关系

目的探讨新疆地区维吾尔族(维族)、汉族两民族妇女雌激素受体(ER-α)基因多态性与腰椎峰值骨密度的关系。方法分别对乌鲁木齐地区无亲缘关系、年龄20～40岁的160例汉族健康妇女和135例维吾尔族健康妇女进行PCR-RFLP测定雌激素受体α基因XbaI及PvuⅡ多态性,用定量CT(QCT)骨密度仪测定腰椎骨密度(BMD)。结果维、汉族女性骨密度均值比较,差异有显著性(P<0.05)。维、汉族妇女ER-α的基因型及等位基因频率分布均符合Hardy-Weinberg平衡定律;XbaI及PvuⅡ多态性基因型频率及等位基因频率在维、汉两民族妇女中比较,差异均有显著性(P<0.05)。协方差方法分析各基因型与BMD的关系显示:仅PvuⅡ多态性与维族妇女L2-4BMD值显著相关(P<0.05),Pp/pp基因型在L2-4BMD值明显低于PP基因型,差异有显著性(P<0.05)。结论 ER-α基因XbaI多态性对新疆地区维、汉族妇女腰椎峰值骨量无潜在影响;PvuⅡ多态性对维族妇女腰椎峰值骨量的达到和维持有关,与汉族无关。     

雌激素受体α基因PvuⅡ、XbaⅠ遗传多态性与乳腺增生症的关系

目的探讨雌激素受体(ER)α基因PvuⅡ和XbaⅠ遗传多态性与乳腺增生症的相关性。方法应用聚合酶链反应-限制性片段长度多态性分析技术检测89例乳腺增生症患者(研究组)和35例健康体检者(对照组)ERα基因PvuⅡ和XbaⅠ遗传多态性。结果 ERα基因XbaⅠ位点的基因型频率及等位基因频率在研究组和对照组中的分布差异均有统计学意义(P<0.05),等位基因频率的相对风险分析,携带X等位基因者患乳腺增生症的风险是x等位基因的0.551倍;PvuⅡ位点的基因型频率及等位基因频率在研究组和对照组中的分布差异均无统计学意义(P>0.05)。结论 ERα基因XbaⅠ遗传多态性与乳腺增生症发病有关,突变基因增加了乳腺增生症的发病风险。     

骨质疏松相关基因的研究进展

骨质疏松(osteoporosis,OP)在很大程度上受基因的影响。在OP的相关基因中,维生素D受体(VDR)基因、雌激素受体(ER)基因、Ⅰ型胶原基因及转化生长因子基因都是重要的候选基因。VDR基因中BB基因型者比Bb及bb基因型者的腰椎骨密度(bone mineral density,BMD)低,骨丢失率高。FokⅠ基因型与腰椎BMD降低有明显相关性,ff基因型者腰椎BMDXx基因型者>xx基因型者。Ⅰ型胶原基因与骨量呈显著相关性,COLIA1基因突变可致低骨量、骨脆性增加。转化生长因子β(TGF-β)基因对调节骨形成和骨吸收有重要作用,TGF-β基因中可发生碱基丢失,这种变异多见于OP患者。     

雌激素受体α和维生素D受体基因多态性与哈尔滨地区绝经后妇女骨密度的关系

目的探讨哈尔滨市绝经后妇女雌激素受体α(ER-α)基因和维生素D受体(VDR)基因多态性与骨密度的关系。方法对哈尔滨市81例无亲缘关系汉族健康妇女进行PCR-RFLP测定ER-α基因PvuⅡ、XbaⅠ多态性和VDR基因BSMⅠ多态性,用双能X线吸收法测定骨密度(BMD)。结果本研究人群PP、Pp及pp基因型频率分别为13.6%、49.4%、37.0%;XX、Xx及xx基因型频率各为4.9%、40.7%、54.4%;BB、Bb及bb基因型频率各为0%、16.0%、84.0%,t检验分析各基因型与BMD值的关系显示:绝经后妇女中,雌激素受体基因型仅与腰椎骨密度有显著差异。维生素D受体基因型在股骨颈、大转子部位有显著差异。PvuⅡ多态性和BSMⅠ多态性共同作用对骨密度影响更大。结论雌激素受体、维生素D受体基因型分布频率均符合Hardy-Weinberg定律,并且与骨密度有一定的关联,尤其是基因与基因的共同作用与骨密度的关系更为密切。     

骨质疏松相关基因的研究进展

骨质疏松(osteoporosis,OP)在很大程度上受基因的影响。在OP的相关基因中,维生素D受体(VDR)基因、雌激素受体(ER)基因、Ⅰ型胶原基因及转化生长因子基因都是重要的候选基因。VDR基因中BB基因型者比Bb及bb基因型者的腰椎骨密度(bone mineral density,BMD)低,骨丢失率高。FokⅠ基因型与腰椎BMD降低有明显相关性,ff基因型者腰椎BMD<Ff基因型者<FF基因型者,且ff基因型者股骨骨丢失增加。ER基因与OP较密切的是PvuⅡ和XbaⅠ的多态性,PP基因型者腰椎(L1-L4)和股骨上端BMD的Z分值有降低倾向,且PP基因型者<Pp基因型者<pp基因型者;而Xx基因型则为XX基因型者>Xx基因型者>xx基因型者。Ⅰ型胶原基因与骨量呈显著相关性,COLIA1基因突变可致低骨量、骨脆性增加。转化生长因子β(TGF-β)基因对调节骨形成和骨吸收有重要作用,TGF-β基因中可发生碱基丢失,这种变异多见于OP患者。     

雌激素受体α基因多态性与中国妇女特发性卵巢早衰的相关性研究

目的 探讨中国汉族妇女雌激素受体α(estrogen receptor α,ERα)基因多态性与特发性卵巢早衰的关系. 方法 选择中国汉族染色体核型正常的特发性卵巢早衰妇女155名为病例组,155名月经正常者为对照组.应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术分析ERα基因PvuⅡ和XbaⅠ位点的单核苷酸变异. 结果 病例组中PvuⅡ位点PP、Pp、PP三种基因型的分布频率分别为38.1％(59/155)、47.7％(74/155)、14.2％(22/155),XbaⅠ位点xx、Xx、XX型分别为61.3％ (95/155)、35.5％ (55/155)、3.2％ (5/155),病例组和对照组间两个位点的基因型分布均具有显著差异性(P＜0.05);病例组等位基因P、X的阳性率明显高于对照组(P＜0.05);联合分析PvuⅡ和XbaⅠ位点可见,携带单倍体型P-X的妇女患卵巢早衰的风险为单倍体型p-x的1.66倍(P＜0.05). 结论 ERα基因的PvuⅡ和XbaⅠ位点的单核苷酸多态性与中国汉族妇女特发性卵巢早衰发生存在相关性,P、X等位基因及单倍体型P-X可能为其易感因素.     

雌激素a受体Xba Ⅰ和Pvu Ⅱ基因多态性与乳腺癌相关性的研究

目的探讨中国北方地区汉族人群中的雌激素a受体(ERa)的Xba Ⅰ和Pvu Ⅱ基因多态性与乳腺癌的关系。方法选取138例女性乳腺癌患者和140例年龄、性别相匹配的健康对照，应用RFLP方法，对其ERa基因的XbaⅠ和PvuⅡ基因多态性进行鉴定；分析XbaⅠ和PvuⅡ基因多态性与罹患乳腺癌危险性的关系。结果正常中国北方汉族人群：ERa的XbaⅠ和PvuⅡ等位基因频率分别为X：28．9％，P：39．6％；XX和PP基因型频率分别是4．3％和15．0％。乳腺癌组和对照组的Xx基因型频率分别为34．8％和49．3％(P=0．013)，X等位基因携带者(XX和Xx)频率分别为39．1％和53．6％(P=0．016)。与xx基因型相比，杂合子Xx基因型和X等位基因携带者(XX和Xx)的OR分别为0．538(95％CI：0．330～0．879)和0．557(95％CI：0．346～0．897)，二者患乳腺癌的危险性降低。这种差异在绝经后的女性中尤为显著，OR值分别为0．366(95％CI：0．161～0．834)和0．37l(95％CI：0．167—0．823)。PvuⅡ基因型的分布在乳腺癌组和对照组之间没有差异，对绝经前后的患病率也没有明显影响。结论ERa的XbaⅠ基因多态性影响中国汉族女性罹患乳腺癌的危险性，尤其是对绝经后的妇女，X等位基因具有降低乳腺癌危险的作用。ERa的：PvuⅡ基因多态性对女性罹患乳腺癌的危险性没有明显影响。     

2015年乳腺癌辅助化疗进展

【摘要】〓乳腺癌是危害我国女性健康的头号杀手,尽管近年来辅助化疗的研究进展突飞猛进,但临床中仍有不少问题未能明确,如辅助化疗的合适人群、化疗的开始时间、蒽环及紫杉类的地位和用法、强化维持治疗的作用、疗效及预后的生物标志物等。本文结合乳腺癌辅助化疗在临床上的常见问题和2015年各大乳腺癌会议阐述乳腺癌辅助化疗的最新进展。     

西宁地区烧伤病人动脉血气分析观察

对高海拔地区的27例烧伤病人动脉血气变化进行了分析和观察。结果证明:无论是存活病人还是死亡病人伤后均存在有低氧血症问题。并且在死亡病人和烧伤合并吸入性损伤病人其低氧血症的发生早于单纯烧伤病人。提示:吸入性损伤病人应立即行气管切开术以保障氧气供给,单纯烧伤病人可常规吸氧以维持正常血 PaO_2,ARDS 均发生在合并吸入性损伤的病人,高频喷射通气技术对纠正低氧血症有一定效果。     

Alterations in T-Cell Subset Frequency in Peripheral Blood in Obesity

Background: Obesity affects the regulation of immune and inflammatory responses. This study characterizes differences in peripheral blood lymphocyte phenotype in obese humans. Methods: Frequencies of lymphocyte subsets among peripheral blood mononuclear cells were compared between 10 obese (BMI ≥35) and 10 lean subjects, as determined by antibodies directed against cluster differentiation (CD) markers. Results: Obese patients demonstrated an increased frequency of CD3+CD4+ T-cells (mean difference 12%, P=0.004), a decreased frequency of CD3+CD8+ T-cells (mean difference 9.4%, P=0.016) and an increased frequency of CD3+CD8+CD95+ T-cells (mean difference 13.3%, P=0.032). No other differences among T-cell or monocyte subsets were noted. Conclusions: Obesity is associated with alterations in frequencies of peripheral CD4+ and CD8+ T-cells and aberrations in the expression of CD95 among CD8+ T-cells. These data suggest both CD4+ and CD8+ T-cell compartments, as well as the regulation of CD95 expression on CD8+ T-cells, as targets for further study into obesity's effects on the immune system.     

Controversies in Fistula in Ano

Managing a complex fistula in ano can be a daunting task for most surgeons; largely due to the two major dreaded complications—recurrence & fecal incontinence. It is important to understand the anatomy of the anal sphincters & the aetiopathological process of the disease to provide better patient care. There are quite a few controversies associated with fistula in ano & its management, which compound the difficulty in treating fistula in ano. This article attempts to clear some of those major controversies.     

β-半乳糖苷酶在体内外成骨细胞中的表达

目的 研究β—半乳糖苷酶(β—gal)在成骨细胞中的表达状况，为阐明MorquioB综合征的发病机制提供依据。方法 裸鼠各器官和骨组织标本行X-gal染色检测。抽取羊和人骨髓行骨髓基质细胞(BMSCs)培养，分为4组：I：Adv-hBMP-2转染组；Ⅱ：Adv—β—gal转染组；Ⅲ：未转染组；Ⅳ：地塞米松诱导组。分别行X-gal染色和RT-PCR检测β—gal的表达。结果 裸鼠骺板两侧、骨膜内面及松质骨的成骨细胞和破骨细胞可见多量β—gal的表达。未转染BMSCs组有少量β—gal的表达，其他3组细胞的β—gal表达增高。结论成骨细胞和破骨细胞可表达多量β—gal，该两种细胞的β—gal缺乏可能是MorquioB综合征骨骼异常的直接原因。     

Fluid-phase transcytosis in the primate epididymis in vitro and in vivo

Ligated tubules from the corpus epididymidis of men and monkeys were incubated in medium containing horseradish peroxidase (HRP) as a marker for fluid-phase endocytosis. HRP was localized by light and electron microscopy after 0, 15, 30 and 60 min of incubation. Movement between the cells was prevented by tight junctions, but bypass of this barrier was apparently achieved by an intracellular vesicular mechanism leading to a time-dependent appearance of HRP in the lumen. Uptake of HRP into basal cells and capture by the lysosomal apparatus of principal cells were also observed. HRP-filled vesicles also appeared in the basal, mid and apical cytoplasm of epithelial cells in the caput 1 h after injection of the tracer into the epididymal circulation of the monkey, suggesting that this pathway also operates in vivo.     

Surgical management of ductal carcinoma in situ in Australia in 1995

Background: In the present paper we describe the presentation and management of ductal carcinoma in situ (DCIS) of the breast in women in Australia in 1995. This representative, national data set provides a historical comparator for studies examining DCIS management that follow. Methods: Surgeons identified by population‐based cancer registries as having treated a new diagnosis of DCIS between 1 April and 30 September 1995 completed a questionnaire on the presentation and management of each case. Results: Two hundred and five surgeons supplied treatment details on 418 DCIS tumours in 415 women . Half of all tumours were detected at BreastScreen clinics and a further 25% were detected at other mammography centres. Twenty‐six percent of tumours were palpable at presentation, 33% were multifocal and 55% were high grade (including comedocarcinoma). Breast conserving therapy (BCT) rather than mastectomy was utilized in 260 (62%) of cases. Tumours that were of low grade, small in size and not multifocal were more likely to be treated by BCT. Surgeons seeing six or more DCIS cases in the 6‐month period were more likely to utilize BCT. Of the conservatively treated cases, 22% were referred for a radiation oncology consultation. The most common reasons for treating DCIS with mastectomy were that the tumour was too extensive or multifocal (63%), it extended to margins of the specimen (42%), or patient concerns about recurrence (34%). Conclusions: In 1995 the majority of DCIS was treated with breast conserving surgery alone. Surgeons treating more DCIS cases were more likely to perform conservative surgery than surgeons treating only one DCIS case in the study period.     

Single center experience in single-incision laparoscopic surgery in children in Turkey

Purpose

Minimally invasive surgery has evolved into single-incision laparoscopic surgery (SILS) in the recent years. Few reports have addressed the practicality of SILS in children. Our current experience with regard to feasibility and effectiveness of SILS in children is presented.

Methods

A retrospective review of the operative database for patients operated on using SILS in our department from March 2009 to July 2010 was performed. Data regarding the type of the procedure, age, sex, operative performance, hospital stay, and complications were collected.

Main Results

Among 43 patients, cholecystectomy was performed in 11; appendectomy, in 10; unroofing for ovarian cysts, in 5; unroofing for splenic cysts, in 4; oophorectomy, in 6 (ovarian torsion, 2; teratoma, 4); ovary-preserving teratoma excision, in 1; splenectomy, in 1; gonadectomy, in 3; and varicocelectomy, in 2. There were no conversions to standard laparoscopic or open techniques. The only postoperative complication was a wound infection that occurred after an appendectomy.

Conclusion

Although currently more expensive, SILS can be performed in children in almost every pediatric surgical procedure that can be accomplished with conventional laparoscopic techniques. The most significant contribution of SILS procedure is cosmesis. Postoperative pain and length of hospital stay were not improved.