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Clinical implications of genetic testing for congenital protein C deficiency in pregnancy. 妊娠先天性蛋白 C 缺乏症基因检测的临床意义。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-05 DOI: 10.1111/jog.16138
Tomoka Maehana, Toshiya Nishikubo, Ryo Maekawa, Taeko Hotta, Kyohei Nishikawa, Keita Waki, Yuko Makino, Juria Akasaka, Ryuji Kawaguchi, Fuminori Kimura

Congenital protein C (PC) deficiency is a mostly autosomal dominant hereditary thrombophilia associated with early onset arterial and venous thrombotic diseases. In newborns, PC deficiency results in severe complications such as cerebral hemorrhage, cerebral infarction, and purpura fulminans, leading to death in some cases. We report two cases of deep vein thrombosis diagnosed during pregnancy that prompted genetic testing confirming definitive congenital PC deficiency. One patient with deep vein thrombosis at 30 weeks of gestation underwent anticoagulation therapy with the placement of an inferior vena cava filter. Genetic testing revealed a missense mutation in the PC gene. Another patient developed deep vein thrombosis at 9 weeks of gestation and received anticoagulant therapy, revealing a frameshift mutation in the gene. Genetic testing confirming congenital PC deficiency facilitates tailored postpartum management, including long-term anticoagulation therapy, based on the mother's thrombosis risk. For newborns, early diagnosis allows timely preparation of treatments, such as freshly thawed frozen plasma or PC replacement therapy and ensures closer monitoring through imaging evaluations, enabling early intervention to decrease the severity of potential complications. Given its utility in managing maternal and neonatal outcomes, early genetic testing in suspected cases of maternal PC deficiency is crucial before delivery.

先天性蛋白 C(PC)缺乏症主要是一种常染色体显性遗传性血栓性疾病,与早发性动脉和静脉血栓性疾病有关。在新生儿中,PC 缺乏症会导致严重的并发症,如脑出血、脑梗塞和紫癜,在某些情况下会导致死亡。我们报告了两例在怀孕期间被诊断为深静脉血栓形成的病例,这两例病例通过基因检测确诊为先天性 PC 缺乏症。其中一名患者在妊娠 30 周时出现深静脉血栓,在接受抗凝治疗的同时,植入了下腔静脉过滤器。基因检测发现该患者的 PC 基因存在错义突变。另一名患者在妊娠 9 周时出现深静脉血栓,接受了抗凝治疗,结果发现该基因存在框移突变。通过基因检测确诊先天性 PC 缺乏症后,可根据母亲的血栓形成风险,对其进行量身定制的产后管理,包括长期抗凝治疗。对于新生儿来说,早期诊断有助于及时准备治疗,如新鲜解冻的冰冻血浆或 PC 替代疗法,并确保通过影像学评估进行更密切的监测,从而进行早期干预,降低潜在并发症的严重性。鉴于 PC 缺乏症在控制孕产妇和新生儿预后方面的作用,在分娩前对疑似 PC 缺乏症孕产妇进行早期基因检测至关重要。
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引用次数: 0
Letter to "Humans-written versus ChatGPT-generated case reports". 致 "人类撰写的病例报告与 ChatGPT 生成的病例报告 "的信。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-11-04 DOI: 10.1111/jog.16127
Amnuay Kleebayooon, Viroj Wiwanitkit
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引用次数: 0
Menstrual blood-derived mesenchymal stem cells combining with platelet-rich plasma infusion in endometrium repair. 月经血间充质干细胞结合富血小板血浆注入修复子宫内膜。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-31 DOI: 10.1111/jog.16135
Yang Wang, Wenxin Liu, Hui Xu, Liyuan Dong, Yalou Jiao, Zhe Qiao

Objective: Thin endometrium caused by various factors affects the conception rate of females worldwide; however, current medications are still insufficient. Therefore, a novel approach is needed. We previously reported the effect of menstrual blood-derived mesenchymal stem cells (MenSCs) in ameliorating ethanol-induced endometrial injuries. In the present study, we aimed to investigate whether the effect of MenSCs is enhanced by a combination of platelet-rich plasma (PRP) infusion.

Methods: An endometrial injury mouse model was established by infiltrating 95% ethanol for 15 s into the uterus, followed by MenSCs, PRP, or MenSCs + PRP treatment. Pathological changes were observed by HE staining. The expression of CK18, vimentin, ItgαVβ3, and VEGF was determined using IHC staining and WB blotting.

Results: Compared with the model, MenSCs, PRP, and MenSCs + PRP treatments significantly improved endometrial damage and thickness, with the combined therapy displaying the most pronounced efficacy. The density of CK18-, vimentin-, and ItgαVβ3 positive cells increased most significantly in the MenSCs + PRP group of mice. In addition, the protein expression of CK18, vimentin, and VEGF was significantly upregulated after MenSCs + PRP, MenSCs, and PRP treatment, with MenSCs + PRP therapy showing the best efficacy.

Conclusion: MenSCs + PRP therapy is more beneficial for ameliorating ethanol-induced endometrial damage than MenSCs or PRP alone, providing a basis for the investigation of novel approaches for treating thin endometria.

目的各种因素导致的子宫内膜薄影响着全球女性的受孕率,但目前的药物治疗仍显不足。因此,需要一种新的方法。我们曾报道过经血间充质干细胞(MenSCs)在改善乙醇引起的子宫内膜损伤方面的作用。在本研究中,我们旨在探讨是否结合富血小板血浆(PRP)输注可增强间充质干细胞的作用:方法:将 95% 的乙醇浸润子宫 15 秒,然后用 MenSCs、PRP 或 MenSCs + PRP 治疗,建立子宫内膜损伤小鼠模型。通过 HE 染色观察病理变化。通过 IHC 染色和 WB 印迹检测 CK18、波形蛋白、ItgαVβ3 和 VEGF 的表达:结果:与模型相比,MenSCs、PRP 和 MenSCs + PRP 治疗能显著改善子宫内膜损伤和厚度,其中联合治疗的疗效最明显。MenSCs+PRP组小鼠CK18、波形蛋白和ItgαVβ3阳性细胞的密度增加最为明显。此外,MenSCs + PRP、MenSCs 和 PRP 治疗后,CK18、波形蛋白和血管内皮生长因子的蛋白表达明显上调,其中 MenSCs + PRP 治疗的疗效最好:结论:MenSCs + PRP疗法比单独使用MenSCs或PRP疗法更有利于改善乙醇引起的子宫内膜损伤,为研究治疗薄型子宫内膜的新方法提供了依据。
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引用次数: 0
ZC3H13-induced the m6A modification of hsa_circ_0081723 promotes cervical cancer progression via AMPK/p53 pathway. ZC3H13诱导的hsa_circ_0081723的m6A修饰通过AMPK/p53途径促进宫颈癌的进展。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-30 DOI: 10.1111/jog.16140
Qiong Wei, Yi Yang, Chun Li, Huimin Wang

Background: N6-methyladenosine (m6A) modification and circular RNAs (circRNAs) have been confirmed to participate in cervical cancer (CC) progression. However, the function of a novel circRNA, hsa_circ_0081723, has not yet been explored in CC. Therefore, this study aimed to investigate the potential role of hsa_circ_0081723 and its m6A modification in CC.

Methods: The hsa_circ_0081723 and ZC3H13 expressions were examined by qRT-PCR in the CC tissues, and their prognostic significance was evaluated via Kaplan-Meier Plotter. The role of hsa_circ_0081723 in CC progression was checked by loss-of-function assays. The relative protein levels of AMPK/p53 pathway were determined by western blotting. The interactions of hsa_circ_0081723 and ZC3H13 were verified via MeRIP and RNA stability assays.

Results: The hsa_circ_0081723 expression was elevated in CC samples, and its higher levels indicated high histological grade, high FIGO stage, poor differentiation, and poor prognosis. Functionally, silencing hsa_circ_0081723 impaired the malignant behavior of CC cells and enhanced the protein levels of key molecules of the AMPK signaling pathway. Moreover, ZC3H13 was also elevated in CC samples and demonstrated a positive association with hsa_circ_0081723. The relative enrichment of hsa_circ_0081723 m6A and its stability were enhanced in ZC3H13 overexpressed CC cells. Mechanically, ZC3H13 overexpression partially reversed the antitumor effects caused by hsa_circ_0081723 knockdown in CC cells.

Conclusions: This study innovatively demonstrates that ZC3H13-mediated m6A modification of hsa_circ_0081723 promotes CC progression by modulating AMPK/p53 pathway. Our findings may contribute to the understanding of the molecular mechanisms underlying CC and offer potential therapeutic targets for clinical treatment.

背景:N6-甲基腺苷(m6A)修饰和环状 RNA(circRNA)已被证实参与宫颈癌(CC)的进展。然而,一种新的环状 RNA(hsa_circ_0081723)在宫颈癌中的功能尚未得到探讨。因此,本研究旨在探讨 hsa_circ_0081723 及其 m6A 修饰在 CC 中的潜在作用:方法:通过qRT-PCR检测hsa_circ_0081723和ZC3H13在CC组织中的表达,并通过Kaplan-Meier Plotter评估其预后意义。通过功能缺失实验检测了hsa_circ_0081723在CC进展中的作用。蛋白印迹法测定了AMPK/p53通路的相对蛋白水平。通过MeRIP和RNA稳定性实验验证了hsa_circ_0081723与ZC3H13的相互作用:结果:hsa_circ_0081723在CC样本中表达升高,其较高水平表明组织学分级高、FIGO分期高、分化差和预后差。从功能上讲,沉默hsa_circ_0081723可抑制CC细胞的恶性行为,并提高AMPK信号通路关键分子的蛋白水平。此外,ZC3H13也在CC样本中升高,并与hsa_circ_0081723呈正相关。在ZC3H13过表达的CC细胞中,hsa_circ_0081723 m6A的相对富集度和稳定性都有所提高。从机理上讲,ZC3H13的过表达部分逆转了敲除hsa_circ_0081723对CC细胞的抗肿瘤作用:本研究创新性地证明了 ZC3H13 介导的 hsa_circ_0081723 m6A 修饰通过调节 AMPK/p53 通路促进了 CC 的进展。我们的研究结果可能有助于理解CC的分子机制,并为临床治疗提供潜在的治疗靶点。
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引用次数: 0
Phenotypes and clinical laboratory data for polycystic ovary syndrome cases: A nationwide survey in Japan. 多囊卵巢综合征病例的表型和临床实验室数据:日本全国性调查。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-30 DOI: 10.1111/jog.16136
Hiroki Noguchi, Takeshi Iwasa, Akira Iwase, Haruhiko Kanasaki, Fuminori Kimura, Koji Kugu, Kazuki Saito, Tsuyoshi Baba, Tetsuaki Hara, Toshiya Matsuzaki

Aim: Describe the current phenotypes and clinical laboratory data regarding polycystic ovary syndrome (PCOS) in Japan, taking into account ethnic differences and obesity status.

Methods: Data for 986 PCOS cases and 965 control cases were collected using a nationwide survey in Japan. Obese/overweight (body mass index [BMI] ≥25 kg/m2) and non-obese/overweight (BMI <25 kg/m2) cases were compared.

Results: Japanese PCOS cases predominantly involved non-obese/overweight patients, accounting for 75% of all cases. Among non-obese/overweight PCOS cases, the incidence of both amenorrhea and clinical/biochemical hyperandrogenism was significantly lower than in obese/overweight PCOS cases, whereas the rate of elevated serum luteinizing hormone (LH) level was significantly higher. Even though the incidence of hirsutism in Japan is only 13.5%, the detection rate for hyperandrogenism increased by as much as 30.4% when hirsutism was added to the Japan Society of Obstetrics and Gynecology (JSOG) criteria for the diagnosis of hyperandrogenism in addition to elevated serum total testosterone level. When evaluated based on timing of blood sampling, the LH level and LH/follicle-stimulating hormone ratio determined at the initial consultation involving a chief complaint of irregular menstrual cycle (after confirming the absence of follicles measuring ≥1 cm in diameter) were significantly higher than on days 2-3 or 4-6 of the menstrual cycle.

Conclusions: Ethnic differences, including obesity status, affected the phenotype and clinical laboratory data of Japanese PCOS patients, such as the incidence rates of clinical/biochemical hyperandrogenism and the rate of elevated basal LH level. Adding hirsutism to the JSOG 2024 criteria would enhance the accuracy of PCOS diagnosis and enhance consistency with the Rotterdam 2003 criteria. Measuring basal LH level is useful for assessing the endocrinologic characteristics of Japanese PCOS cases, as well as lean Asian PCOS cases, but the timing of blood sampling can affect the result.

目的:考虑到种族差异和肥胖状况,描述日本多囊卵巢综合征(PCOS)目前的表型和临床实验室数据:方法:通过一项日本全国性调查,收集了 986 例多囊卵巢综合征病例和 965 例对照病例的数据。对肥胖/超重(体重指数 [BMI] ≥25 kg/m2)和非肥胖/超重(体重指数 2)病例进行了比较:结果:日本的多囊卵巢综合症病例主要涉及非肥胖/超重患者,占所有病例的 75%。在非肥胖/超重的多囊卵巢综合征病例中,闭经和临床/生化雄激素过高的发生率明显低于肥胖/超重的多囊卵巢综合征病例,而血清黄体生成素(LH)水平升高的比例则明显高于肥胖/超重的多囊卵巢综合征病例。尽管多毛症在日本的发病率仅为 13.5%,但在日本妇产科学会(JSOG)的多毛症诊断标准中,除了血清总睾酮水平升高外,多毛症的检出率增加了 30.4%。根据采血时间进行评估时,在主诉月经周期不规律的初诊时(在确认没有直径≥1厘米的卵泡后)测定的LH水平和LH/卵泡刺激素比值明显高于月经周期的第2-3天或第4-6天:结论:包括肥胖状态在内的种族差异影响了日本多囊卵巢综合征患者的表型和临床实验室数据,如临床/生化高雄激素的发生率和基础 LH 水平的升高率。将多毛症纳入 JSOG 2024 标准将提高多囊卵巢综合征诊断的准确性,并加强与鹿特丹 2003 标准的一致性。测量基础 LH 水平有助于评估日本多囊卵巢综合症病例以及亚洲瘦弱多囊卵巢综合症病例的内分泌特征,但采血时间会影响结果。
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引用次数: 0
Golden Jubilee 50th volume of the Journal of Obstetrics and Gynecology Research 妇产科研究杂志》金禧 50 卷。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-29 DOI: 10.1111/jog.16029
Rohana Haththotuwa
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引用次数: 0
Navigating the landscape of cervical cancer in India: Epidemiology, prevention, current status, and emerging solutions 了解印度宫颈癌的现状:流行病学、预防、现状和新兴解决方案。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-29 DOI: 10.1111/jog.16030
Krishnendu Gupta, Ranajit Mandal, Puja Chatterjee

Cervical cancer poses a significant health burden for women worldwide, particularly in India. Despite global progress, India's mortality rate, with 79 906 deaths, remains disproportionately high at approximately 11.2 per 100 000 women compared to the global average of 7.1 per 100 000 women. India's NPCDCS and other initiatives focus on VIA screening for women aged 30–65. The National Health Policy 2017 emphasizes primary healthcare enhancement, allocating two-thirds of the budget. Ayushman Bharat promotes universal health coverage, including Health and Wellness Centers and PM-JAY. Initiatives like Ayushman Bharat and the National Cancer Grid offer hope for improved cancer care. Leveraging technology, strengthening infrastructure, integrating services, promoting awareness, and enhancing HPV vaccination are crucial. By addressing barriers, improving access, and fostering collaboration, the cervical cancer burden can be reduced, ensuring better health outcomes for women nationwide.

宫颈癌给全世界妇女,尤其是印度妇女带来了沉重的健康负担。尽管全球都取得了进展,但印度的死亡率仍高得不成比例,每 100 000 名妇女中有 79 906 人死亡,约为 11.2 人,而全球平均水平为每 100 000 名妇女中有 7.1 人死亡。印度的 NPCDCS 和其他倡议重点关注 30-65 岁妇女的 VIA 筛查。2017 年国家卫生政策》强调加强初级保健,拨出了三分之二的预算。Ayushman Bharat 推广全民医保,包括健康与保健中心和 PM-JAY。Ayushman Bharat 和国家癌症网格等倡议为改善癌症护理带来了希望。利用技术、加强基础设施、整合服务、提高意识和加强 HPV 疫苗接种至关重要。通过消除障碍、改善获取途径和促进合作,可以减轻宫颈癌负担,确保全国妇女获得更好的健康结果。
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引用次数: 0
The AOFOG recommendations on human papillomavirus vaccination in the Asia-Pacific region AOFOG 关于亚太地区人类乳头瘤病毒疫苗接种的建议。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-29 DOI: 10.1111/jog.16034
Ka Yu Tse, Ai Ling Tan, Kirtipal Subedi, Shahana Pervin, Krishnendu Gupta, Brahmana Askandar Tjokroprawiro, Yin Ling Woo, Sarikapan Wilailak, Kazunori Ochiai, Pisake Lumbiganon, Christia Padolina

Cervical cancer remains a disease burden in Asia. The Asia and Oceania Federation of Obstetrics and Gynecology envisages a need to produce a set of recommendations on the implementation of human papilloma virus vaccination program for both lower-middle-income countries (LMICs) and high-income countries (HICs), with an attempt to harmonize the practices yet allow flexibility to cater for different cultures, religions, needs and background of individual countries/cities. International guidelines and literature were sought, and recommendations were made in seven selected areas, including (i) the target groups for vaccination, (ii) the doses of vaccination including the use of single-dose vaccination, (iii) the types of vaccines, (iv) suggestions for special populations including those with previous HPV infection, human immunodeficiency virus carriers, and lesbian, gay, bisexual, transgender, questioning/queer group, (v) inter-changeability and the need of revaccination/booster, (vi) novel technologies and vaccines, and (vii) public education.

宫颈癌仍然是亚洲的疾病负担。亚洲及大洋洲妇产科联合会认为有必要为中低收入国家 (LMIC) 和高收入国家 (HIC) 制定一套关于实施人类乳头瘤病毒疫苗接种计划的建议,以协调各种做法,同时又能灵活应对各个国家/城市的不同文化、宗教、需求和背景。我们寻求了国际指南和文献,并在七个选定领域提出了建议,包括 (i) 疫苗接种的目标群体,(ii) 疫苗接种的剂量,包括单剂量接种的使用,(iii) 疫苗的类型、(iv) 对特殊人群的建议,包括既往感染过人类乳头瘤病毒者、人体免疫缺陷病毒携带者、女同性恋者、男同性恋者、双性恋者、变性人、质疑者/同性恋者群体, (v) 互换性和再次接种/加强免疫的必要性, (vi) 新型技术和疫苗,以及 (vii) 公众教育。
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引用次数: 0
Celebrating JOGR's 50th volume of publication 庆祝《日本期刊》第 50 卷出版。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-29 DOI: 10.1111/jog.16002
Hiroaki Kajiyama
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引用次数: 0
Asia Oceania Federation of Obstetrics and Gynecology (AOFOG)'s efforts in the cervical cancer elimination program in the Asia-Pacific 亚洲大洋洲妇产科联合会(AOFOG)在亚太地区消除宫颈癌计划中所做的努力。
IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY Pub Date : 2024-10-29 DOI: 10.1111/jog.16032
Christia S. Padolina, Jean Anne B. Toral

Cervical cancer poses a significant health burden, particularly in low- and middle-income countries, where access to screening and treatment remains limited. Asia Oceania Federation of Obstetrics and Gynecology (AOFOG)'s response, guided by the World Health Organization's global strategy, emphasizes three key targets: achieving high HPV vaccination coverage among girls, ensuring widespread screening with high-performance tests, and guaranteeing timely treatment for precancerous and cancerous lesions. AOFOG supports member countries through initiatives such as educational campaigns, guidelines development, and collaboration with local and international partners. Variations in screening methods across AOFOG member countries reflect diverse socioeconomic contexts and healthcare infrastructures, ranging from HPV testing in countries like Australia and Malaysia to cytology and visual inspection methods in others. Innovations such as HPV self-testing and AI-enhanced screening are emerging to improve accessibility and accuracy, addressing barriers like stigma and resource scarcity. Despite challenges, AOFOG remains committed to reducing cervical cancer incidence and mortality through coordinated regional efforts, aiming for equitable access to preventive measures and treatment across the diverse landscape of the Asia-Pacific region.

宫颈癌对健康造成了重大负担,尤其是在中低收入国家,这些国家的筛查和治疗机会仍然有限。亚洲大洋洲妇产科联合会(AOFOG)的应对措施以世界卫生组织的全球战略为指导,强调三个关键目标:在女童中实现较高的 HPV 疫苗接种覆盖率,确保通过高效检测进行广泛筛查,以及保证对癌前病变和癌症病变进行及时治疗。AOFOG 通过开展教育活动、制定指南以及与当地和国际合作伙伴合作等举措为成员国提供支持。AOFOG 成员国在筛查方法上的差异反映了不同的社会经济背景和医疗基础设施,从澳大利亚和马来西亚等国的 HPV 检测到其他国家的细胞学和肉眼检查方法,不一而足。HPV自我检测和人工智能增强筛查等创新技术不断涌现,以提高可及性和准确性,解决污名化和资源稀缺等障碍。尽管存在挑战,但亚太地区妇产科组织仍致力于通过协调区域努力来降低宫颈癌的发病率和死亡率,目的是在亚太地区多样化的环境中实现预防措施和治疗的公平可及性。
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引用次数: 0
期刊
Journal of Obstetrics and Gynaecology Research
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