应用Affymetrix SNP Array和FISH技术确认胎儿额外小标记染色体r（4）4p13q13.3

目的 利用AffymetriSNP Array和FISH技术鉴定额外小标记染色体的来源.方法 2013年7月1例38岁高龄孕妇来我院就诊,进行羊水染色体核型分析,G显带检测羊水和脐血胎儿染色体核型,应用AffymetrixCytoScan 750K Array基因芯片技术鉴定额外小标记染色体的片段与来源,然后运用WSH/D4Z1探针的FISH进行确认.结果 胎儿羊水G显带染色体核型为46,XX[15]/47,XX,＋mar[15],脐血G显带染色体核型为46,XX[14]/47,XX,＋mar[16];AffymetrixCytoScan 750KArray基因芯片分析结果为arr 4p13q13.3（41,593,201-72,130,692）X2-3,显示胎儿有4号染色体4p13-着丝粒-q13.3区段30.537 Mb的嵌合性重复;胎儿脐血细胞FISH检测显示28％间期细胞有4号染色体着丝粒的三体性.结论 综合应用染色体G-显带核型分析、FISH技术和AffymetrixCytoScan 750K Array芯片技术能准确确认额外微小标记染色体的来源及其片段的界定.     

低剂量性激素疗法预防绝经后妇女骨量丢失的效果观察

目的探讨低剂量性激素治疗方案对绝经后妇女骨量丢失的影响。方法将2002年3月至2003年3月诊治的90例绝经妇女随机分为3组，A组（31例）：每日服用戊酸雌二醇1mg＋醋酸甲羟孕酮2mg；B组（29例）：每日服用结合雌激素0．45mg＋醋酸甲羟孕酮2mg；C组（30例）：每日服用7-甲异炔诺酮1．25mg，共服药12个月。各组均每日服用元素钙400mg。治疗前后分别测定第2～4腰椎骨（L2-4）骨密度、骨代谢生化指标尿N端交联多肽／肌酐（NTX／Cr）值及血清总碱性磷酸酶（ALP）水平。结果治疗12个月时B组L2-4骨密度上升显著（上升0．039g／cm^2，P〈0．01），A与C组骨密度变化不明显（均P〉0．05）；治疗后L2-4。骨密度B组与A组、C组比较差异均有统计学意义（均P〈0．05），A组和C组之间差异无统计学意义（P〉0．05）。治疗6个月3组尿NTX／Cr值均下降，其巾B组、C组下降明显（均P〈0．05），组间比较差异均无统计学意义（P〉0．05）。治疗12个月时各组血ALP水平均明显下降（P〈0．01）．下降程度相似（P〉0．05）。结论3种低于标准剂量的性激素治疗12个月均可对抗绝经后妇女骨量丢失。     

HPV E6/E7 mRNA和HPV DNA检测技术在宫颈上皮内瘤变中的诊断价值分析

目的比较人乳头瘤病毒(HPV)E6/E7 mRNA和HPV DNA检测技术对宫颈上皮内瘤变(CIN)2级及以上(CIN2+)患者的诊断价值,并评价HPV E6/E7 mRNA检测结果在不同实验室间的一致性。方法采用HPV E6/E7 mRNA和HPV DNA检测技术对212例门诊体检的健康者和住院的宫颈病变患者的宫颈脱落细胞学标本进行检测。以病理诊断结果为金标准,评价两种检测技术诊断CIN2+的灵敏度和特异度。北京市迪安中心实验室和北京市怀柔妇幼保健院实验室均采用HPV E6/E7 m RNA检测技术检测同一批标本,评价实验室间检测的一致性。结果HPV E6/E7 m RNA检测的阳性率为38.7%,与HPV DNA的阳性率43.9%比较,差异无统计学意义(P﹥0.05)。HPV E6/E7 mRNA和HPV DNA的检测阳性率均随着病理分级的升高而增加(P<0.01)。HPV E6/E7mRNA检测CIN2+的灵敏度为92.96%,与HPV DNA的90.14%相比,差异无统计学意义(P﹥0.05),而HPV E6/E7mRNA检测CIN2+的特异度为88.65%,高于HPV DNA的79.43%,差异有统计学意义(P<0.05)。两个实验室采用HPV E6/E7 m RNA检测阳性一致的标本例数为78,阴性一致的标本例数为121,总一致率为93.87%,Kappa=0.872,一致性较好。结论与HPV DNA检测技术相比,HPV E6/E7 mRNA检测宫颈病变的特异度更具优势,实验室间重复性检测的一致率较高,有望成为中国宫颈癌HPV筛查的首选方法。     

SKOV3卵巢癌细胞中雌激素对LRP16的调控作用及其影响

目的：研究雌激素受体ER阳性的卵巢癌细胞系中,E2对LRP16的调控作用以及LRP16对细胞增殖的影响。方法：Northern Blot、Western Blot方法分别检测RNA、蛋白表达水平;生长曲线测定过表达或抑表达LRP16对SKOV3细胞生长特性的影响。结果：雌激素敏感的BG-1细胞系中,E2正调控LRP16的表达;而不同浓度雌激素处理雌激素不敏感SKOV3细胞,LRP16蛋白的表达下降,而ICI182 780对其作用相反;LRP16对SKOV3细胞的生长、增殖有微弱的调节作用。结论：在雌激素不敏感的SKOV3细胞系中,E2对LRP16的调节作用及LRP16发挥的生长调节作用与雌激素敏感的BG-1卵巢癌细胞系及乳腺癌体外研究结果不同。提示雌激素不敏感浆液性卵巢癌中E2对LRP16的调控可能存在新的机制,可能用来解释部分卵巢癌对内分泌治疗敏感性不同的原因。     

Clinical analysis of high-intensity focussed ultrasound ablation for abdominal wall endometriosis: a 4-year experience at a specialty gynecological institution

Objective: To evaluate the long-term clinical effect of high-intensity focussed ultrasound (HIFU) as a non-invasive modality for ablation of abdominal wall endometriosis (AWE) foci.

Methods: All women who were diagnosed with cutaneous endometriosis and underwent HIFU ablation and 4-year follow-up were included. Patient symptoms, imaging performed, HIFU ablation, recurrence, lesion location, size and number were collected and analyzed.

Results: A total of 51 women with 57 painful abdominal wall masses with a median volume of 4.00?cm³ and a mean age of 30.5±2.12 years were treated with HIFU. The main symptoms were a palpable painful abdominal mass (93%), protrusion of the skin (28.1%, 16) or lack of protrusion of the skin (71.9%, 41). Ultrasound was initially performed in 100% (51) of women, whereas 6% (3) required MRI examinations to distinguish the features and range of the masses. Ablation was performed with a median 300?s of sonication time, 40?min treatment time, 150?W of power and 41800?J of total energy to treat lesions that were a median volume of 3.83?cm³. No severe complications occurred, except in one patient with a first-degree skin burn, during the 48-month follow-up period. The pooled recurrence of cutaneous endometriosis occurred in 3.9% (2) of women.

Conclusion: The diagnosis of AWE should be confirmed with imaging of the lesion number, location, size and features before HIFU ablation. HIFU should be the first choice for the treatment of AWE as it is a non-invasive method, with high efficiency and safety and rapid postoperative recovery.     

Anatomic extent of lymph node metastases as an independent prognosticator in node-positive major salivary gland carcinoma: A study of the US SEER database and a Chinese multicenter cohort

BackgroundWe aimed to explore whether the anatomic extent of lymph node metastases (AE-LNM) could independently predict prognosis of node-positive major salivary gland carcinoma (MaSGC).MethodsA total of 376 pathologically node-positive MaSGC patients were identified from the Surveillance, Epidemiology and End Results database and constituted the training cohort. Using the X-Tile program, these patients were divided into three groups based on AE-LNM degrees. Discrimination of overall survival (OS) and disease-specific survival (DSS) was evaluated and compared with the 8th American Joint Committee on Cancer (AJCC) pN classification. The results were externally validated by 220 patients in a Chinese multicenter cohort (Validation cohort).ResultsUsing the training cohort, AE-LNM was divided into Extent 1 (spread to parotid LNs or level I), Extent 2 (spread to level II-IV) and Extent 3 (spread to level V or bilateral LNs or rare LNs). Regarding both OS and DSS, the AE-LNM model revealed clear separation of survival curves, while the pN classification failed to discriminate the prognosis of pN1 and pN2 patients. When we incorporated both the AE-LNM model and AJCC pN classification into the same multivariate Cox analyses, AE-LNM was still an independent prognostic factor, while the AJCC pN classification lost its significance. These results were externally validated by the validation cohort.ConclusionAE-LNM is an independent nodal prognosticator for node-positive MaSGC and may have improved discriminative ability over the current AJCC pN classification. Integration of anatomic extent of LNM into the current AJCC N classification could be considered.     

早期宫颈癌术后每周紫杉醇+顺铂同步3DCRT的Ⅰ期临床研究

目的 明确中国人每周紫杉醇和顺铂同步盆腔放疗早期宫颈癌术后患者的MTD。方法 顺序选择有高中危因素的早期宫颈癌术后患者25例,ECOG≤2。盆腔采用6、10 MV X线4个野3DCRT,照射剂量为40 Gy分20次后予盆腔中央挡铅,宫旁加量10~20 Gy分5~10次;¹⁹²Ir高剂量率腔内照射,参考点为阴道黏膜下0.5 cm,处方剂量为5 Gy/次共2~4次。化疗起始剂量为每周紫杉醇 10 mg/m²、顺铂 20 mg/m²,共6个周期。利用3+3设计方法,每3例患者进行剂量递增直至达到DLT水平。结果 入组患者均在7周内完成外照射和腔内照射。第7剂量组4例患者中2例4周期后出现DLT即3级腹泻。3、4级血液学反应主要为白细胞、中性粒细胞减少,主要发生在4~6周期化疗后。第6剂量组1例出现4级白细胞、中性粒细胞减少,但额外增加的3例未出现4级反应。同步化疗未延迟治疗时间。25例患者中22例完成了6周期化疗。中位随访时间59.5个月,3例患者死于复发转移,1例死于呼吸衰竭。结论 早期宫颈癌术后盆腔照射联合每周紫杉醇和顺铂的同步放化疗安全、耐受性好。中国人的MTD为6周期的每周顺铂35 mg/m²和紫杉醇30 mg/m²。     

Low dose hormone therapy in reproductive endocrinology in China

The human endocrine system normally functions in a balanced physiological state. Any excess or deficiency will cause an endocrine imbalance and result in hyper-or hypo-function, requiring readjustment by hormone suppression or supplementation in order to reestablish a normal physiological balance.     

Clinical assessment for three routes of hysterectomy

Background Hysterectomy is a very common surgery in gynecology. Ideal surgery for hysterectomy is microinvasive with few complications. There are three major routes of hysterectomy that are currently used. The aim of this study was to identify the differences of peri-operative outcome among the patients who underwent the three different approaches.
Methods One hundred and one women undergoing hysterectomy for myoma had the procedure performed by laparoscopic assisted vaginal hysterectomy （LAVH）, total vaginal hysterectomy （TVH） or total abdominal hysterectomy （TAH） in a randomized study. We compared the course of peri-operative and post-operative outcome for the three different approaches. Results were evaluated by linear regression analysis, Fisher＇s exact test and Student＇s t test for independent samples.
Results The operation time among the three procedures was not significantly different （P 〉0.05）. The amount of blood loss in the TVH group was less than in the LAVH and TAH groups （P 〈0.05）. The pain score 3 hours after operation in the LAVH group was significantly lower than in the TAH and TVH groups （P 〈0.001）. The pain scores in the LAVH and TVH groups were lower than in the TAH group at 24 and 48 hours after operation （P 〈0.01）. The women who underwent LAVH and TVH had a shorter hospitalization stay （P 〈0.001）. The highest body temperature after operation in the TAH group was higher than that in LAVH and TVH groups （P 〈0.001）.
Conclusions LAVH and TVH are better procedures for women requiring hysterectomy. The peri-operative and post-operative courses of TVH are better than LAVH, excluding the pain score 3 hours after operation. Vaginal hysterectomy is the most cost-effective approach but the final choice for the route of hysterectomy can depend on many factors such as gynecological disease, patients＇ health status and experiences of the gynecologist.     

甲睾酮联合米非司酮治疗绝经期子宫肌瘤的临床研究

[目的]观察甲睾酮联合米非司酮治疗围绝经期子宫肌瘤的临床疗效。[方法]将60例围绝经期子宫肌瘤的患者随机分为治疗组和对照组,对照组给予口服米非司酮治疗,治疗组在对照组的基础上加服甲睾酮。3个月为1个疗程,连服2个疗程。6个月后随访月经及肌瘤变化情况,评价临床疗效。[结果]经治疗2个疗程后,治疗组临床疗效总有效率(96.7%)高于对照组(80.0%),两组比较差异有统计学意义(P﹤0.05);两组治疗前后子宫和肌瘤的体积比较,差异均有统计学意义(P﹤0.05),说明两组均有缩瘤的作用;治疗后组间比较,差异无统计学意义(P﹥0.05),随访观察治疗组在诱导绝经及缩瘤的疗效稳定性方面优于对照组(P﹤0.05)。[结论]甲睾酮联合米非司酮能有效治疗围绝经期子宫肌瘤。