中华妇产科杂志最新文献

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[Effect of FCN gene single nucleotide polymorphism on the susceptibility of pre-eclampsia in Han nationality pregnant women]. [FCN基因单核苷酸多态性对汉族孕妇子痫前期易感性的影响]。
中华妇产科杂志 Pub Date : 2024-11-25 DOI: 10.3760/cma.j.cn112141-20240626-00361
J Y Tan, Y L Tan, B Yang, W Yang, C L Yuan, X J Mi, F E Cai, Y J Gan, Y J He
{"title":"[Effect of FCN gene single nucleotide polymorphism on the susceptibility of pre-eclampsia in Han nationality pregnant women].","authors":"J Y Tan, Y L Tan, B Yang, W Yang, C L Yuan, X J Mi, F E Cai, Y J Gan, Y J He","doi":"10.3760/cma.j.cn112141-20240626-00361","DOIUrl":"10.3760/cma.j.cn112141-20240626-00361","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the effect of single nucleotide polymorphism (SNP) of FCN gene on the susceptibility of pre-eclampsia (PE) in Han nationality pregnant women. <b>Methods:</b> A total of 274 PE pregnant women (PE group) and 154 healthy pregnant women (control group) admitted to Boai Hospital of Zhongshan, Affiliated Hospital to Southern Medical University from October 2020 to October 2022 were collected. The general information, medical history, reproductive history, blood pressure, body mass index and blood biochemical indicators before delivery were compared between the two groups. Twenty-three SNP loci of FCN gene family were genotyped by time-of-flight mass spectrometry, and the serum levels of ficolins (ficolin-1, -2 and -3) were detected by enzyme-linked immunosorbent assay. <b>Results:</b> (1) Compared with the control group, the body mass index, mean arterial pressure, gestational age at delivery, blood urea nitrogen, alanine aminotransferase, aspartate aminotransferase, direct bilirubin, albumin, and C-reactive protein in the PE group were significantly higher than those in the control group (all <i>P</i><0.05). The levels of N-terminal pro-B type natriuretic peptide (NT-proBNP), placental growth factor (PlGF) and human soluble vascular endothelial growth factor receptor-1 (sFlt-1) were significantly different between the two groups (all <i>P</i><0.05). (2) Among the 23 SNP loci in FCN gene family, 18 loci were in Hardy-Weinberg genetic equilibrium, including 5 loci in FCN1 gene, 10 loci in FCN2 gene, and 3 loci in FCN3 gene. Five loci that did not conform to Hardy-Weinberg genetic equilibrium were not included in the subsequent analysis. Compared with the control group, the genotype distribution of 3 loci of FCN2 gene (rs7872508, rs11103563, rs73664188) and 1 locus of FCN3 gene (rs3813800) in the PE group were significantly different (all <i>P</i><0.05). After Bonferroni correction, only the genotype distribution of rs7872508 and rs73664188 in FCN2 gene were statistically different between the PE group and the control group (all <i>P</i><0.05). Further analysis showed that for the rs7872508 locus of FCN2 gene, compared with GG genotype, genotype GT (<i>OR</i>=3.025, 95%<i>CI</i>: 1.080-8.471) and TT (<i>OR</i>=4.777, 95%<i>CI</i>: 1.758-12.979) both significantly increased the risk of PE (both <i>P</i><0.05). For rs73664188 locus of FCN2 gene, compared with TT genotype, genotype TC (<i>OR</i>=0.510, 95%<i>CI</i>: 0.334-0.778) significantly reduced the risk of PE (<i>P</i><0.05). (3) Compared with the control group, the serum levels of ficolin-1 and ficolin-2 in pregnant women in the PE group were significantly reduced (both <i>P</i><0.05), while the level of ficolin-3 showed no significant change (<i>P</i>=0.271). Correlation analysis showed that the serum levels of ficolin-2 in pregnant women in the PE group were significantly positively correlated with PlGF level (<i>r</i>=0.321, <i>P</i><0.001), and significantly","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 11","pages":"839-847"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Attention doctor colleagues, please do not discard your tethoscope!] [医生同事请注意,请不要丢弃听诊器!]
中华妇产科杂志 Pub Date : 2024-11-25 DOI: 10.3760/cma.j.cn112141-20240812-00450
J H Lang
{"title":"[Attention doctor colleagues, please do not discard your tethoscope!]","authors":"J H Lang","doi":"10.3760/cma.j.cn112141-20240812-00450","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240812-00450","url":null,"abstract":"","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 11","pages":"817-818"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Chinese expert consensus on enhanced recovery after surgery for pelvic floor reconstructive surgery]. [盆底重建手术术后加强恢复的中国专家共识]。
中华妇产科杂志 Pub Date : 2024-11-25 DOI: 10.3760/cma.j.cn112141-20240610-00323
{"title":"[Chinese expert consensus on enhanced recovery after surgery for pelvic floor reconstructive surgery].","authors":"","doi":"10.3760/cma.j.cn112141-20240610-00323","DOIUrl":"10.3760/cma.j.cn112141-20240610-00323","url":null,"abstract":"","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 11","pages":"829-838"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Value of laser therapy, photodynamic therapy, and follow-up observation in the management of cervical low-grade squamous intraepithelial lesions: a prospective cohort study]. [激光疗法、光动力疗法和随访观察在宫颈低级别鳞状上皮内病变治疗中的价值:一项前瞻性队列研究]。
中华妇产科杂志 Pub Date : 2024-11-25 DOI: 10.3760/cma.j.cn112141-20240725-00414
L Zhang, F T Meng, J N Wu, L Sui, Q Cong
{"title":"[Value of laser therapy, photodynamic therapy, and follow-up observation in the management of cervical low-grade squamous intraepithelial lesions: a prospective cohort study].","authors":"L Zhang, F T Meng, J N Wu, L Sui, Q Cong","doi":"10.3760/cma.j.cn112141-20240725-00414","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240725-00414","url":null,"abstract":"<p><p><b>Objective:</b> To explore the value of CO<sub>2</sub> laser therapy, photodynamic therapy, and follow-up observation in the management of cervical low-grade squamous intraepithelial lesion (LSIL). <b>Methods:</b> Women diagnosed with cervical LSIL and high risk human papillomavirus (HR-HPV) infection through colposcopy-guided biopsy from January 1, 2021 to December 31, 2023 were collected. According to a 1∶1 ratio, 107 cases were included in each of the laser treatment, photodynamic therapy, and follow-up groups. The complete remission rate and HR-HPV clearance rate were compared during the 6-12 months follow-up period. <b>Results:</b> (1) Comparison of clinical data among the three groups before treatment: the median age of the 321 patients was (34.9±8.1) years. Before treatment, cytological abnormalities were present in 51.7% (166/321) of patients, and 35.2% (113/321) had human papillomavirus (HPV) 16/18 infections. The accuracy rate of colposcopic diagnosis was 69.2% (222/321). Age, cytology results, HPV 16/18 infection, and colposcopy diagnosis in the laser group, photodynamic group, and follow-up group were compared, and there were not statistically significant differences (all <i>P</i>>0.05). (2) During the 6-12 months follow-up period, the complete remission rate was 89.7% (96/107) in the laser group, slightly higher than the 86.9% (93/107) in the photodynamic group, with no statistical difference between the two groups (<i>χ</i><sup>2</sup>=0.41, <i>P</i>=0.523). However, both were significantly higher than the 64.5% (69/107) in the follow-up group (<i>χ</i><sup>2</sup>=19.30, <i>P</i><0.001; <i>χ</i><sup>2</sup>=14.63, <i>P</i><0.001). The HR-HPV clearance rates in the laser and photodynamic groups were 73.8% (79/107) and 68.2% (73/107), respectively, both significantly higher than the 32.7% (35/107) in the follow-up group (<i>χ</i><sup>2</sup>=36.34, <i>P</i><0.001; <i>χ</i><sup>2</sup>=26.99, <i>P</i><0.001), but with no statistical difference between the laser and photodynamic groups (<i>χ</i><sup>2</sup>=0.82, <i>P</i>=0.366). <b>Conclusions:</b> CO<sub>2</sub> laser therapy and photodynamic therapy are effective treatments for cervical LSIL, significantly superior to follow-up observation in terms of lesion remission and HR-HPV clearance rates. Individualized treatment plans could be developed based on the patient's age, duration of HR-HPV infection, colposcopic impression, and economic conditions.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 11","pages":"848-855"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma with loss of expression of SMARCA4: clinicopathological features analysis]. [未分化子宫内膜癌/SMARCA4表达缺失的未分化子宫内膜癌:临床病理特征分析]。
中华妇产科杂志 Pub Date : 2024-11-25 DOI: 10.3760/cma.j.cn112141-20240614-00337
W Liu, Y Shi, X J Wang, Y M Cui, T M He, J C Liu, W F Zhu, Q Xu, D Hu
{"title":"[Dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma with loss of expression of SMARCA4: clinicopathological features analysis].","authors":"W Liu, Y Shi, X J Wang, Y M Cui, T M He, J C Liu, W F Zhu, Q Xu, D Hu","doi":"10.3760/cma.j.cn112141-20240614-00337","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240614-00337","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological characteristics of dedifferentiated endometrial carcinoma/undifferentiated endometrial carcinoma (DDEC/UDEC) with loss of expression of SMARCA4. <b>Methods:</b> A total of 10 cases with loss of expression of SMARCA4 were diagnosed at Fujian Cancer Hospital between January 2019 and December 2023. A retrospective analysis was conducted on the clinical characteristics, morphology, immunophenotype, molecular classification, and prognosis. <b>Results:</b> (1) Clinical characteristics: among 10 cases of DDEC/UDEC with loss of expression of SMARCA4, the patients' age ranged from 48 to 65 years, with a median age of 56 years.Five cases were classified as International Federation of Gynecology and Obstetrics (FIGO) stages Ⅰ-Ⅱ, while the remaining five were categorized as stages Ⅲ-Ⅳ. (2) Pathological features: tumor cells exhibited poor cell adhesion, with common intravascular tumor emboli (8/10), occasional vacuolated nuclei (6/10), rhabdoid cells (4/10), and starry sky phenomenon formed by tissue cell phagocytosis apoptosis bodies or fragments (4/10). Six cases (6/10) showed loss of mismatch repair (MMR) protein expression, two cases (2/10) exhibited p53 mutant expression, and five cases (5/10) tested positive for programmed cell death ligand 1 (PD-L1). (3) Molecular subtyping: molecular subtyping revealed POLEmut in 1 case (1/10), mismatch repair deficient (MMR-d) in 5 cases (5/10), p53 abn in 1 case (1/10), and no specific molecular profile (NSMP) in 3 cases (3/10). (4) Prognosis: the follow-up period ranged from 7 to 42 months, with a median of 20 months. Five patients succumbed to the tumor, whereas the remaining five exhibited no recurrence during subsequent postoperative evaluations. The 2-year progression-free survival rates and overall survival rates were 58.3% and 52.5%, respectively. <b>Conclusions:</b> Loss of expression of SMARCA4 occurs in approximately 1/5 of DDEC/UDEC, which presents with an aggressive clinical course and a poor prognosis. About half of them show MMR protein loss expression and PD-L1 positive expression, suggesting that there might be benefit from treatment with immune checkpoint inhibitors.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 11","pages":"856-863"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142709395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Staged operations of acquired lymphangiectasia of the vulva: 10 cases clinical analysis]. [后天性外阴淋巴管扩张症的分期手术:10 例临床分析]。
中华妇产科杂志 Pub Date : 2024-10-25 DOI: 10.3760/cma.j.cn112141-20240419-00231
C Liang, S Xia, Y G Sun, K Chang, J F Xin, X Liu, R An, W B Shen
{"title":"[Staged operations of acquired lymphangiectasia of the vulva: 10 cases clinical analysis].","authors":"C Liang, S Xia, Y G Sun, K Chang, J F Xin, X Liu, R An, W B Shen","doi":"10.3760/cma.j.cn112141-20240419-00231","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240419-00231","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the characteristics, diagnosis and therapeutic effect of acquired lymphangiectasia of the vulva (ALV). &lt;b&gt;Methods:&lt;/b&gt; A retrospective analysis of clinicopathological and follow-up data was conducted on the patients treated in Capital Medical University Affiliated Beijing Shijitan Hospital due to female ALV from July 2009 to July 2023. The patients who completed the staged operations [partial labiectomy and reconstruction + thoracic ductplasty and (or) perineal lymphovenous anastomosis] were included in the study and followed up. The improvement of perineal swelling, blister range, fluid leakage volume and frequency were evaluated through outpatient visits by the symptom rating scale of ALV (hereinafter referred to as the symptom rating scale) before and after surgery. &lt;b&gt;Results:&lt;/b&gt; A total of 48 patients were treated due to ALV from July 2009 to July 2023, of which 98% (47/48) were postoperative pelvic malignant tumors and 94% (45/48) had a history of radiotherapy. A total of 10 patients with ALV who completed the staged operations were included in this study. (1) Clinical characteristics and diagnosis: 10 patients had a median age of 60 years old (50, 63 years old ). The median duration from cervical cancer surgery and radiation therapy to vulvar swelling was 1.5 years (0.0, 2.0 years), and the median duration from vulvar swelling to blister formation and leakage was 0.0 years (0.0, 4.8 years). Seven patients (7/10) had a history of recurrent erysipelas; 7 patients (7/10) had the most severe symptom (widespread blisters, persistent fluid leakage, and large amount of fluid leakage); noncontrast magnetic resonance lymphography (NCMRL) showed edema signals in the perineal region of all the patients, and increase of agent in the perineal region was observed in lymphoscintigram (LS). (2) Surgical treatment and postoperative pathological examination: of the 10 ALV patients who completed staged surgical treatment, 6 cases (6/10) were diagnosed with thoracic duct outlet obstruction and underwent thoracic ductplasty and partial labiectomy and reconstruction. Perineal lymphovenous anastomosis and partial labiectomy and reconstruction were performed in 4 cases (4/10) without thoracic duct outlet obstruction. Postoperative routine pathological examination of 10 patients (10/10) showed dermal papilla lymphangiectasia. Immunohistochemical tests were performed on 5 patients, all of which were positive for D2-40 and negative for CD&lt;sub&gt;34&lt;/sub&gt;. (3) Efficacy: 8 patients completed the postoperative follow-up, and the median follow-up time was 31.0 months (17.5, 78.3 months). The perineal swelling and the blister fluid leakage were all significantly improved after the staged operations. All indexes of the symptom rating scale, including the degree of perineal swelling, blister range, fluid leakage volume and frequency, were significantly improved in 8 follow-up patients, and 3 (3/8) of them were cured; the median symptom ","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 10","pages":"794-801"},"PeriodicalIF":0.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Analysis of perinatal outcomes in pregnant women with the resolution of placenta previa in the second trimester]. [前置胎盘在怀孕后三个月消除的孕妇围产期结局分析]。
中华妇产科杂志 Pub Date : 2024-10-25 DOI: 10.3760/cma.j.cn112141-20240313-00151
C J Gong, S Lu, Y Wang
{"title":"[Analysis of perinatal outcomes in pregnant women with the resolution of placenta previa in the second trimester].","authors":"C J Gong, S Lu, Y Wang","doi":"10.3760/cma.j.cn112141-20240313-00151","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240313-00151","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate perinatal outcomes of pregnant women with the resolution of placenta previa in the second trimester. &lt;b&gt;Methods:&lt;/b&gt; This study was a retrospective cohort study, which included singleton pregnant women who received prenatal care and delivered at Peking University Third Hospital from January 1st 2019 to December 31st 2020. A total of 403 pregnant women diagnosed with placenta previa by ultrasound at 20-24 weeks of gestation and the placental position returned to normal before delivery were included in the study group, and 403 pregnant women with normal placental position matched 1∶1 were the control group. The primary outcome was postpartum hemorrhage rate, and secondary outcomes included postpartum bleeding volume, severe hemorrhage complications, blood transfusion, drug application, the application of instrument or surgical hemostasis measures, gestational week of delivery, and neonatal outcomes. The perinatal outcomes were analyzed by univariate and multivariate logistic regression methods. &lt;b&gt;Results:&lt;/b&gt; (1) Compared with the control group, the incidence of postpartum hemorrhage [10.4% (42/403) vs 17.6% (71/403)], postpartum hemorrhage volume (median: 375 vs 400 ml), the proportion of postpartum hemorrhage≥500 ml [18.6% (75/403) vs 30.5% (123/403)], and the proportion of application of instrument or surgical hemostasis measures [1.7% (7/403) vs 4.5% (18/403)] in the study group were increased, and the differences were statistically significant (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). Neonatal outcomes, including birth weight, small for gestational age, hospitalization in neonatal intensive care unit and incidence of neonatal asphyxia, were compared between the two groups, and there were no statistically significant differences (all &lt;i&gt;P&lt;/i&gt;&gt;0.05). (2) In pregnant women with vaginal delivery, the postpartum hemorrhage rate [31.7% (66/208) vs 17.5% (39/223)], postpartum hemorrhage volume (median: 390 vs 380 ml), the proportion of instrument or surgical hemostasis measures [3.8% (8/208) vs 0.4% (1/223)] of the study group were higher than those of the control group, and the differences were statistically significant (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). There was no significant difference in the rate of postpartum hemorrhage between the study group and the control group who gave birth by cesarean setion (&lt;i&gt;P&lt;/i&gt;=0.545), but the proportion of postpartum hemorrhage≥500 ml in the study group and the control group were 29.2% (57/195) and 20.0% (36/180), and the difference was statistically significant (&lt;i&gt;P&lt;/i&gt;=0.039). (3) The results of multivariate analysis showed that compared with the control group, the risk of postpartum hemorrhage (a&lt;i&gt;OR&lt;/i&gt;=2.042, 95%&lt;i&gt;CI&lt;/i&gt;: 1.313-3.175), the application of drugs (a&lt;i&gt;OR&lt;/i&gt;=1.684, 95%&lt;i&gt;CI&lt;/i&gt;: 1.142-2.484) and the application of instruments or surgical hemostasis measures (a&lt;i&gt;OR&lt;/i&gt;=2.696, 95%&lt;i&gt;CI&lt;/i&gt;: 1.089-6.675) were significantly increased in the study group (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). Among women who","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 10","pages":"757-763"},"PeriodicalIF":0.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age]. [在 3 097 名健康中国育龄人群中扩大 216 种疾病的携带者筛查范围]。
中华妇产科杂志 Pub Date : 2024-10-25 DOI: 10.3760/cma.j.cn112141-20240617-00340
N Hao, K L Yin, H Z Zhang, Q W Qi, X Y Zhou, Y Lyu, Y L Jiang
{"title":"[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].","authors":"N Hao, K L Yin, H Z Zhang, Q W Qi, X Y Zhou, Y Lyu, Y L Jiang","doi":"10.3760/cma.j.cn112141-20240617-00340","DOIUrl":"10.3760/cma.j.cn112141-20240617-00340","url":null,"abstract":"<p><p><b>Objective:</b> To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. <b>Methods:</b> Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum. <b>Results:</b> (1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included <i>GJB2</i>: c.235del, <i>PAH</i>: c.728G>A, <i>ATP7B</i>: c.2333G>T, <i>SLC26A4</i>: c.919-2A>G, <i>GALC</i>: c.1901T>C, <i>POLG</i>: c.2890C>T, <i>SLC22A5</i>: c.1472C>G, <i>USH2A</i>: c.2802T>G, <i>SLC25A13</i>: c.852_855del, <i>GAA</i>: c.761C>T and c.752C>T. <b>Conclusion:</b> This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.</p>","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 10","pages":"764-770"},"PeriodicalIF":0.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Clinical effect of secondary LEEP combined with transcervical resection of endocervical tissue for cervical precancerous lesions with positive internal margin after the first LEEP]. [首次 LEEP 后内缘阳性宫颈癌前病变行二次 LEEP 联合经宫颈内膜组织切除术的临床效果]。
中华妇产科杂志 Pub Date : 2024-10-25 DOI: 10.3760/cma.j.cn112141-20240519-00285
J J Xiao, Y X Sun, Q Wang, L Sui, H W Zhang, Q Cong
{"title":"[Clinical effect of secondary LEEP combined with transcervical resection of endocervical tissue for cervical precancerous lesions with positive internal margin after the first LEEP].","authors":"J J Xiao, Y X Sun, Q Wang, L Sui, H W Zhang, Q Cong","doi":"10.3760/cma.j.cn112141-20240519-00285","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240519-00285","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To preliminarily investigate the clinical outcomes of secondary loop electrosurgical excision procedure (LEEP) combined with transcervical resection of endocervical tissue (i.e., second combined surgeries) in patients with positive endocervical margins following the initial LEEP for high-grade squamous intraepithelial lesion (HSIL) or adenocarcinoma in situ (AIS) of the cervix. &lt;b&gt;Methods:&lt;/b&gt; Patients who underwent second combined surgeries due to positive endocervical margins after the initial LEEP for cervical HSIL or AIS at Obstetrics and Gynecology Hospital, Fudan University between August 2015 and September 2023 were included. Postoperative cytological examinations, high-risk human papillomavirus (HR-HPV) testing, colposcopic biopsy results, and cervical canal length were followed up to evaluate the clinical efficacy of second combined surgeries. &lt;b&gt;Results:&lt;/b&gt; (1) General clinical data: a total of 67 patients were enrolled, including 34 with cervical HSIL (HSIL group) and 33 with AIS (AIS group). In the HSIL group before the time of initial LEEP, the mean age was (41.3±5.3) years, with all patients positive for HR-HPV preoperatively. Preoperative cytology results revealed ≤low-grade squamous intraepithelial lesion (LSIL) in 13 cases and ≥HSIL in 21 cases. The preoperative cervical canal length was (3.71±0.17) cm. Patients in the AIS group before their the first LEEP were at an average age of (39.1±8.7) years old, with preoperative HR-HPV positive. Among them, 16 cases showed preoperative cytological results of ≤LSIL, while 17 cases showed ≥HSIL. The preoperative cervical canal length was (3.64±0.21) cm. (2) Pathological findings and postoperative follow-up of the HSIL group following second combined surgeries:in the HSIL group, the residual rate of HSIL in the endocervical canal tissue (ECT) was 24% (8/34). Out of the 34 HSIL patients, 10 cases (29%, 10/34) remained with positive endocervical margins post-second combined surgeries. Among these 10 patients, 5 cases (5/10) had no lesion detected in ECT, while the remaining 5 cases (5/10) exhibited HSIL in their ECT. Conversely, 24 patients (71%, 24/34) had negative endocervical margins after second combined surgeries. Of these 24 patients, 3 cases (12%, 3/24) were found to have HSIL in ECT, and 21 cases (88%, 21/24) had no lesion in ECT. During follow-ups conducted at 6 and 12 months post-second combined surgeries, the clearance rates of HR-HPV were 91% (31/34) and 100% (34/34), respectively. Notably, among the 29 patients (85%, 29/34) who were followed up for a period of 2 years or longer, all cases maintained a consistently negative HR-HPV status, highlighting the effectiveness of second combined surgeries in achieving long-term HR-HPV clearance (100%, 29/29). (3) Pathological findings and postoperative follow-up of the AIS group following second combined surgeries: the residual rate of AIS in the ECT following second combined surgeries among AIS patients was 15% (","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 10","pages":"786-793"},"PeriodicalIF":0.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Expert consensus on diagnosis and treatment of chronic pelvic pain]. [关于慢性盆腔疼痛诊断和治疗的专家共识]。
中华妇产科杂志 Pub Date : 2024-10-25 DOI: 10.3760/cma.j.cn112141-20240320-00171
H J He, J Chen, Z Hou, H Duan, P Zhang, G J Lu, H J Liu, L J Wang, C L Ma, Y Xue, J L Wang, X H Huang, X Zhao, M Hao, C F Ha, J S Han, S Wang, S Q Li, Z Q Liang, J F Lin, B Ling, J Lu, Y Wan, H Xu, X M Zhang, Y F Zhou, G H Zhu, L Zhu, H Y Guo
{"title":"[Expert consensus on diagnosis and treatment of chronic pelvic pain].","authors":"H J He, J Chen, Z Hou, H Duan, P Zhang, G J Lu, H J Liu, L J Wang, C L Ma, Y Xue, J L Wang, X H Huang, X Zhao, M Hao, C F Ha, J S Han, S Wang, S Q Li, Z Q Liang, J F Lin, B Ling, J Lu, Y Wan, H Xu, X M Zhang, Y F Zhou, G H Zhu, L Zhu, H Y Guo","doi":"10.3760/cma.j.cn112141-20240320-00171","DOIUrl":"https://doi.org/10.3760/cma.j.cn112141-20240320-00171","url":null,"abstract":"","PeriodicalId":10050,"journal":{"name":"中华妇产科杂志","volume":"59 10","pages":"747-756"},"PeriodicalIF":0.0,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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