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1.
目的 评价孕酮受体基因内含子G插入306碱基对多态性(PROGINS)在子宫内膜异位症发病中的意义。方法 2005-06—2006-06中国医科大学附属二院和解放军463医院将66例手术及组织学证实诊断的子宫内膜异位症患者和非子宫内膜异位症对照组56例,通过人末梢血提取白细胞DNA,PCR检测基因型分布频率及等位基因(野生型T1和突变型T2)频率.结果 两组比较突变型T2基因型分布频率分别为子宫内膜异位症组0.14,对照组0.04,OR:4.54(95%C1:1.50—13.78),P=0.004。子宫内膜异位症组有2例纯突变型T2(3.0%):结论 PROG1NS可能与子宫内膜异位症发病有关。  相似文献   

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IntroductionResearch suggests that autism spectrum disorder (ASD) has its origins in utero. This study examines the association between evidence of placental histopathology and ASD.MethodsAdministrative claims data and medical records data were used to identify ASD cases (N = 55) and matched controls (N = 199) born at New York Methodist Hospital between 2007 and 2014 and subsequently seen in affiliated pediatrics clinics. Placentas from all births during this time period were reviewed as part of routine care. Data were analyzed using conditional logistic regression to account for the matched (gender, gestational age, and birth weight) design.ResultsAcute placental inflammation, regardless of type was associated with an increased risk of ASD (odds ratio [OR] = 3.14, 95% CI = 1.39, 6.95). Chronic uteroplacental vasculitis (OR = 7.13; 95% CI = 1.17, 43.38), the fetal inflammatory response in the chorionic plate vessels (OR = 5.12; 95% CI = 2.02, 12.96), and maternal vascular malperfusion pathology (OR = 12.29; 95% CI = 1.37, 110.69) were associated with an increased risk of ASD. Placental villous edema was associated with a decreased risk of ASD (OR = 0.05; 95% CI = 0.0005, 0.42). In subanalyses among male placentas acute inflammation overall, fetal inflammatory response in the chorionic plate vessels, and maternal vascular malperfusion pathology remained significantly associated with an increased risk of ASD whereas placental villous edema remained associated with a decreased risk of ASD.DiscussionHistologic evidence of placental inflammation and maternal vascular malperfusion pathology are associated with ASD.  相似文献   

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Endometriosis is a complex trait, which means that multiple susceptibility genes interact with one another and the environment to produce the phenotype. One of the genes previously implicated in the disease is CYP17; this encodes the enzyme P450c17α, which plays a vital role in steroid biosynthesis in the ovary. The presence of a single nucleotide polymorphism (T→C) in the 5′-promoter region of the gene creates a new recognition site for the restriction enzyme MspA1 producing a mutant allele (A2), which affects circulating estrogen levels. In this study, we compared the frequency of the CYP17 MspA1 polymorphism in two different ethnic populations. DNA was obtained from (1) 94 women with revised American Fertility Society (rAFS) stage III–IV endometriosis and 97 male blood donors in the UK, and (2) 130 women with rAFS stage III–IV endometriosis and 179 female newborn infants in Japan. No significant differences in allele or genotype frequencies were seen in either population. The genotype distribution in the UK population was 33/94 [35.1%] (cases) and 39/97 [40.2%] (controls) for A1A1 (homozygous wild-type); 43/94 [45.7%] (cases) and 44/97 [45.4%] (controls) for A1A2; and 18/94 [19.1%] (cases) and 14/97 [14.4%] (controls) for A2A2. The genotype distribution in the Japanese population was 31/130 [23.9%] (cases) and 57/179 [31.8%] (controls) for A1A1; 73/130 [56.2%] (cases) and 89/179 [49.7%] (controls) for A1A2; and 26/130 [20.0%] (cases) and 33/179 [18.4%] (controls) for A2A2. The CYP17 MspA1 polymorphism is probably not associated with endometriosis in either the UK or the Japanese population.  相似文献   

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Endometriosis is a complex trait, which means that multiple susceptibility genes interact with one another and the environment to produce the phenotype. One of the genes previously implicated in the disease is CYP17; this encodes the enzyme P450c17alpha, which plays a vital role in steroid biosynthesis in the ovary. The presence of a single nucleotide polymorphism (T-->C) in the 5'-promoter region of the gene creates a new recognition site for the restriction enzyme MspA1 producing a mutant allele (A2), which affects circulating estrogen levels. In this study, we compared the frequency of the CYP17 MspA1 polymorphism in two different ethnic populations. DNA was obtained from (1) 94 women with revised American Fertility Society (rAFS) stage III-IV endometriosis and 97 male blood donors in the UK, and (2) 130 women with rAFS stage III-IV endometriosis and 179 female newborn infants in Japan. No significant differences in allele or genotype frequencies were seen in either population. The genotype distribution in the UK population was 33/94 [35.1%] (cases) and 39/97 [40.2%] (controls) for A1A1 (homozygous wild-type); 43/94 [45.7%] (cases) and 44/97 [45.4%] (controls) for A1A2; and 18/94 [19.1%] (cases) and 14/97 [14.4%] (controls) for A2A2. The genotype distribution in the Japanese population was 31/130 [23.9%] (cases) and 57/179 [31.8%] (controls) for A1A1; 73/130 [56.2%] (cases) and 89/179 [49.7%] (controls) for A1A2; and 26/130 [20.0%] (cases) and 33/179 [18.4%] (controls) for A2A2. The CYP17 MspA1 polymorphism is probably not associated with endometriosis in either the UK or the Japanese population.  相似文献   

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The paper compares the results of bipolar coagulation bey means of ERBE ICC 300 diatermy coagulator and WISAP endocoagulator. The results of both types of coagulation were assessed with reference to the changes occurring on peritoneum ligamenti sacro-uterini, Douglas pouch and ovary. The best results of endometriosis foci coagulation were obtained with bipolar ball at 20-30 W; no side effects or feelings of malaise were observed in patients just after the operation or over a longer period of convalescence.  相似文献   

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Objective

This article critically reviews the literature on the association between endometriosis and gynecological cancers and breast cancer, based on epidemiologic data.

Methods

Literature review of the English language literature based on searching in the MEDLINE (PubMed) database and additional collection of reports by systematically reviewing all references from retrieved papers.

Results

Data from large cohort and case–control studies indicate that endometriosis patients only have an increased risk of ovarian cancer among the gynecological malignancies and breast cancer, although most of the observed associations are modest. Data on the association between endometriosis and breast cancer are inconsistent. Endometriosis patients have a reduced risk of cervical cancer, and there is no association between endometriosis and endometrial cancer. Endometriosis-associated ovarian cancer seems to be a distinct clinical entity; patients are younger, diagnosed in earlier stages, have lower grade lesions and a better survival. Further, endometriosis-associated ovarian cancers are predominantly clear cell and endometrioid histologic subtypes.

Conclusions

Endometriosis seems to be a precursor of epithelial ovarian cancer, especially clear cell and endometrioid adenocarcinomas. However, current evidence is insufficient to draw any definitive conclusions whether this association represents causality or the sharing of similar risk factors and/or antecedent mechanisms.  相似文献   

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Objective

This article represents a review of histologic and genetic findings in endometriosis and describes the mechanisms whereby genetic and non-genetic factors potentially contribute to the neoplastic progression of endometriosis.

Methods

Literature review of the English language literature based on searching in the MEDLINE (PubMed) database and additional collection of reports by systematically reviewing all references from retrieved papers.

Results

Atypical endometriosis seems to represent a transition from benign endometriosis to carcinoma. Endometriosis is characterized by genetic instability: like neoplasms endometriosis seems to be monoclonal in origin, several studies have documented loss of heterozygosity (LOH) in endometriosis, data suggest that mutation of the tumor suppressor gene PTEN play a part in the malignant transformation of endometriosis, some studies have revealed TP53 mutations in endometriotic lesions, and mutation of ARID1A seems to be an important early event in the malignant transformation of endometriosis to endometrioid and clear cell carcinomas. Heme and iron induced oxidative stress, inflammation, and hyperestrogenism are possible links between endometriosis and cancer.

Conclusions

The histological and genetic alterations in endometriosis seem to explain why endometriosis can be a precursor of some ovarian cancers, especially clear cell and endometrioid carcinomas. However, the exact molecular mechanisms that may lead to this malignant transformation of endometriosis are not completely understood. More and larger studies are needed to clarify how exactly endometriotic tissue undergoes malignant transformation.  相似文献   

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目的 :研究整合素α4、α5、β1亚单位及αvβ3在子宫内膜异位症中的表达。 方法 :采用免疫组化法分析子宫内膜异位症 2 7例的在位内膜和异位内膜整合素α4、α5、β1及αvβ3的表达 ,并选择同期正常育龄 13例子宫内膜进行对照。 结果 :整合素α4、α5、β1及αvβ3在正常子宫内膜以及内异症患者的在位内膜和异位内膜腺上皮均有不同程度表达 ,α5在内异症中表达显著低于正常子宫内膜 ;而αvβ3在血管内皮细胞中有极显著性的阳性表达 ,以增生期异位灶为甚。结论 :推测内异症中整合素α5的低表达和血管内皮细胞中αvβ3的高表达可能与内异症发病有关。  相似文献   

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Bipolar disorder is relatively rare in obstetrics and gynecology (ob/gyn) practice compared with depressive and anxiety disorders, but there is a high risk for poor outcomes for patients and their offspring. Ob/Gyn physicians are assuming increasing responsibility for the care of these patients in today’s managed care environment, working independently or in collaboration with a psychiatrist. The clinical presentation of bipolar patients may include mania and/or depression, in addition to more minor mood fluctuations that accompany the emotional and physical changes of pregnancy. The key issue in the differential diagnosis is to rule out medical, surgical, medication, and substance etiologies of mania that are potentially reversible. Indications for routine, urgent, and emergent referrals to a psychiatrist are reviewed. Treatment for bipolar women considering pregnancy includes prepregnancy planning education, involving the patient, family, psychiatrist, ob/gyn physician, and maternal-fetal medicine specialist. Treatment for pregnant bipolar women includes an individualized risk/benefit assessment regarding medication, monitoring levels and adherence to medication if it is used, ongoing patient education, and collaboration between the ob/gyn physician, maternal-fetal medicine specialist, and psychiatrist.  相似文献   

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Endometriosis is the leading cause of morbidity among premenopausal women affecting about 1 in 10 females. The features shared by endometriosis and cancer include the ability to evade apoptosis, the stem cell-like ability and angiogenic potential. As such characteristics are encoded by the cell’s genetic constitution, acquired mutations are responsible for the malignant transformation of endometriosis. Indeed, a number of tumour-suppressor genes and proto-oncogenes, such as protein 53 (P53) and B-cell lymphoma 2 (BCL-2) respectively, are mutated and as a result differentially expressed between endometriotic and malignant tissue associated with endometriosis. Moreover, cytokines and macrophages, both of which are inflammatory mediators have been implicated in the transformation process. The angiogenic properties possessed by cancer arising from endometriosis signifies a bad prognosis, while the stem cell-like activity possessed by both endometriosis and cancer has been attributed to the effect of oestrogen. A number of differences between endometriosis and cancer are found at the molecular level. Considering the link between these two pathologies, the three components which fuel the malignant transformation of endometriosis can be embodied in the endometriosis-induced carcinoma (EIC) triangle which shows the intricate relationship between endocrinologic, immunologic and genetic components.  相似文献   

15.
PURPOSE: To investigate the occurrence of ovarian cancer (OC) arising in ovarian endometriosis (OE) diagnosed in our laboratory, and the relation of the disease to patient age. METHODS: Histopathological reports were reviewed in cases of endometriosis and ovarian cancer diagnosed between 1982 and 1989 and in 1997. The occurrence of OE and OC was studied in relation to patient age. RESULTS: Of the 796 OE cases, 36 (4.5%) ovarian cancers were found in the eight-year period, and of the 216 OC cases 36 (16.7%) were associated with OE; 12 patients (1.7%) were under 50 years old and 24 (22.9%) were over 50. In 1997 there were 168 cases of OE, and 4 cases were associated with OC. Of the 60 OC cases 4 cases arose in endometriosis. Two patients were over 50 and two under 50. CONCLUSION: In our report the occurrence of OC arising in OE was most influenced by patient age, the extent of sampling and the consistency of histologic reports about the presence of endometriosis in ovarian adenocarcinoma.  相似文献   

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PTPN22 is currently one of the few known shared-autoimmunity genes and is therefore a candidate marker for endometriosis. Our data show that female carriers of the PTPN22( *)T variant are significantly more susceptible to endometriosis than controls.  相似文献   

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Histologic material from 42 patients with endometrioid carcinomas of the ovary was reviewed. Ovarian endometriosis was present in 11 cases (26%) and 8 of these patients were postmenopausal. The exact site of transition from benign to malignant epithelium was observed in 4 cases. The clinical characteristics of patients with associated endometriosis were not significantly different from those without this finding except that endometriosis was present only in patients with Grade 1 or Grade 2 carcinomas. These data suggest that ovarian endometriosis in the postmenopausal patient has the potential to undergo malignant transformation and, when detected, should be removed surgically.  相似文献   

20.
卵巢子宫内膜异位症与卵巢恶性肿瘤的相关性分析   总被引:1,自引:0,他引:1  
目的卵巢子宫内膜异位症(EM)是常见的妇科良性疾病,具有潜在的恶变可能。本研究通过对卵巢EM恶变、合并EM及未合并EM的卵巢恶性肿瘤病例的分析,了解卵巢EM恶变与卵巢恶性肿瘤的关系。方法 回顾性分析新疆医科大学第一附属医院2003年1月至2010年12月经病理确诊的原发性卵巢恶性肿瘤患者共362例,根据卵巢EM恶变诊断标准及病理结果,将EM恶变的17例患者分为A组,其他仅合并卵巢EM的卵巢恶性肿瘤16例患者分为B组,未合并卵巢EM的卵巢恶性肿瘤329例为C组,从卵巢恶性肿瘤的临床病理资料对三组进行对照分析。同期在本院经手术确诊的卵巢EM患者共1 946例。结果A、B组临床症状多以腹痛为主,其次为盆腔包块;从临床分期来看,A、B组以Ⅱ期居多,分别占70.6%、56.5%,C组以Ⅲ期为多,占47.7%;从组织类型来看,A、B组多为透明细胞癌(分别为70.6%、56.2%),而C组则以浆液性腺癌(50.2%)为主。三组在一般特征、临床分期及病理组织分类的分布差异均有统计学意义。结论卵巢EM恶变的临床症状以腹痛为多,其次为盆腔包块,肿块直径超过9 cm,且CA125水平多在200 U/ml以上;卵巢EM恶变及卵巢恶性肿瘤合并EM病例中早期患者比例较高,具有年轻化(尤其是卵巢内异症恶变患者)的特点,且多为卵巢透明细胞癌和子宫内膜样癌;卵巢EM恶变的诊断与组织病灶程度、临床分期可能有关,卵巢EM病灶恶变可能来源于透明细胞癌和子宫内膜样癌,因此卵巢EM可被认为是卵巢恶性肿瘤的危险因素。  相似文献   

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