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Mosaic 47,XYY/45,X Presenting With Male Infertility: A Rare Case Report 马赛克47,XYY/45,X表现为男性不育症:罕见病例报告
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1171
Wan Norizzati Wan Mohamad Zamri, N. M. Z. Mat Zin, N. A. Mohd Nawi, Aziati Aswari Anuar, Nazihah Mohd Yunus, S. Sulong, Z. Alwi, R. Ankathil
Sex chromosome aneuploidies are the most common chromosome abnormalities associated with infertility in adult men. 47, XYY syndrome also known as Jacob Syndrome (JS) is one sex chromosome aneuploidy. Majority of 47, XYY men show normal spermatogenesis while minority may have varying degrees of impairment in spermatogenesis. This case report discusses about a 32 year old Malay gentleman who was diagnosed to have azoospermia for which cytogenetic analysis revealed an abnormal mosaic 47,XYY/45,X karyotype pattern as the underlying genetic cause. Abnormal mosaic 47,XYY/45,X karyotype associated with infertility is extremely rare in human population and hence reported for its rarity.
性染色体非整倍体是与成年男性不育症相关的最常见的染色体异常。XYY综合征也被称为雅各布综合征(JS)是一种性染色体非整倍体。47,xyy男性中的大多数显示正常的精子发生,而少数可能有不同程度的精子发生障碍。本病例报告讨论了一位32岁的马来男子,他被诊断为无精子症,细胞遗传学分析显示异常的马赛克47,XYY/45,X核型模式是潜在的遗传原因。与不孕症相关的异常镶嵌47、XYY/45、X核型在人群中极为罕见,因此报道其罕见性。
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引用次数: 0
Influence of Placental Metalloproteinase-9 Protein on the Branching Architecture of Chorionic Blood Vessels of Human Placenta 胎盘金属蛋白酶-9蛋白对人胎盘绒毛膜血管分支结构的影响
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1169
Basu Jayasri, O. Sara, Wu Yingyi, Encalada M Diana, Molina Lara, Mikhail Magdy
Introduction: In human placenta, two different branching patterns of chorionic blood vessels exist. In the dispersal type, the chorionic blood vessels undergo successive divisions with gradually diminishing caliber as the blood vessels traverse towards the placental margins. In the magistral type, the blood vessels traverse without appreciable decrease in diameter. We hypothesize, that matrix-degrading enzymes secreted by cytotrophoblasts may influence the branching patterns of these chorionic blood vessels. We, therefore, determined if placental expression of matrix metalloproteinase-9 (MMP-9) protein differed between the two vascular patterns of chorionic blood vessels of human placenta. Methods: 26 full-term delivered placentas were collected from normotensive women. Chorionic villi (CV) were isolated. CV MMP-9 protein was analyzed using human MMP-9 monoclonal antibody based ELISA kits. A novel method was used to determine the vascular patterns of the placentas from placental photographs. Independent t test was used for statistical analysis. P< 0.05 was considered significant. Results: The branching pattern of the chorionic blood vessels was 54% dispersal and 46% of the magistral types. In placentas with dispersal type of branching pattern, MMP-9 protein expression was significantly higher (p=0.035). Women who delivered placentas with magistral type of branching pattern, the mean newborn weight was found to be significantly higher (p=0.039). Conclusion: The study introduces a novel method to investigate chorionic vascular network of human placenta. Our findings underscore the importance of CV MMP-9 protein in affecting the placental branching architecture of chorionic blood vessels in humans. In the magistral type, the calibers of the chorionic blood vessels from the point of insertion of the umbilical cord to the placental margins remained more or less unchanged. We suggest, that this unchanged caliber of blood vessels in the magistral type, may have allowed better nourishment and oxygen to be catered to the fetus; resulting in fetal weight gain.
在人胎盘中,存在两种不同的绒毛膜血管分支模式。在弥散型中,随着血管向胎盘边缘延伸,绒毛膜血管连续分裂,直径逐渐减小。在主动脉弓型中,血管的直径没有明显的减小。我们推测,细胞滋养细胞分泌的基质降解酶可能影响这些绒毛膜血管的分支模式。因此,我们确定了基质金属蛋白酶-9 (MMP-9)蛋白的胎盘表达在人胎盘的绒毛膜血管的两种血管模式之间是否存在差异。方法:采集血压正常的孕妇足月分娩胎盘26例。分离绒毛膜绒毛(CV)。采用基于人MMP-9单克隆抗体的ELISA试剂盒检测CV MMP-9蛋白。一种新的方法被用来确定胎盘血管模式从胎盘照片。采用独立t检验进行统计分析。P< 0.05被认为是显著的。结果:脉络膜血管分支型54%为分散型,46%为支配型。分散型分支型胎盘中,MMP-9蛋白表达量显著高于分散型分支型胎盘(p=0.035)。分娩具有地方型分支型胎盘的妇女,新生儿的平均体重明显较高(p=0.039)。结论:本研究为研究人胎盘的绒毛膜血管网络提供了一种新的方法。我们的研究结果强调了CV MMP-9蛋白在影响人类绒毛膜血管胎盘分支结构中的重要性。在裁判型中,从脐带插入点到胎盘边缘的绒毛膜血管的直径大致保持不变。我们认为,统治型的血管口径不变,可能为胎儿提供了更好的营养和氧气;导致胎儿体重增加。
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引用次数: 0
Successful Removal of Forty- Two Number Fibroid Masses during Caesarean Section in A Primigravid Woman in a Private Facility in a Low Resource Area: A Case Report 在资源匮乏地区的一所私立医院,一名初产妇剖宫产术中成功切除42个子宫肌瘤
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1167
Mbamara Su, Ajoku S C
Uterine fibroid is the most common pelvic tumour in women of reproductive age. It has an incidence of 0.05 – 5%. Its prevalence peaks between 30 – 39 years. It is seven times (7x) more common among blacks than Caucasians [1]. Here, we present a 30-year-old primigarvid woman who had caesarean myomectomy in which 42 number of variously sized fibroid masses were enucleated in a private specialist hospital. This case report suggests that caesarean myomectomy does not appear to increase the risk of immediate or short term post-partum morbidity. It also shows that it is feasible to remove all the visible and palpable fibroid nodules during caesarean myomectomy with relative safety.
子宫肌瘤是育龄妇女最常见的盆腔肿瘤。发病率为0.05 - 5%。其患病率在30 - 39岁之间达到高峰。黑人的发病率是白种人的7倍[1]。在这里,我们报告了一位30岁的初生女性,她在一家私立专科医院接受了剖宫产子宫肌瘤切除术,其中42个不同大小的肌瘤肿块被去核。本病例报告表明,剖宫产子宫肌瘤切除术似乎不会增加立即或短期产后发病的风险。在剖宫产子宫肌瘤切除术中,切除所有可见及可触及的肌瘤结节是可行的,且相对安全。
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引用次数: 0
The Demographic Characteristics of Patients with Benign Ovarian Cyst and Histological Pattern in a Tertiary Center in Riyadh, Saudi Arabia 沙特阿拉伯利雅得三级中心良性卵巢囊肿患者的人口统计学特征和组织学模式
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1168
G. Farid, A. Chamsi, M. Swaraldahab, Hassan Swaraldahab
Background: Benign ovarian tumours are a very common clinically encountered condition and rarely become malignant. The outcome is generally good, varying from asymptomatic big cysts to symptomatic ones with different sizes. Objective: To know the demography of patients, the types of cyst, presentation and management options. Thereafter, comparison of data with other national and international studies was done. Results: This retrospective cohort study was carried out in Security Forces Hospital, Riyadh in Saudi Arabia between January 1st, 2015 to January 31st, 2018. There were 67 cases of histologically diagnosed benign ovarian neoplasms in that period. The age range of 20-49 made up 72.1% of cases and a mean of 37 years, with a BMI of 20-36.9 Kg/m². 67.2% of cases were electively admitted and 88% of cases had ovarian cyst more than 5cm in size. The affected side was almost similar being 35.8% on right side and 32.8% on the left, 28.3% were bilateral and 2.99% were paraovarian cysts. 31.3% of patients were single and 10.4% multiparous. A parity of up to 6 constituted 41.8% of cases, 58.2% were managed by laparotomy and 41.8% had laparoscopic approach. 56.7% of cases were of epithelial origin, 17.9% functional cyst and 16.4% were Germ cell tumours. Sex cord variety were seen in 5.96% of cases and a combination of epithelial and stromal components made up 2.98% of cases. During the 2-D ultrasound studies done for all patients, 10.4% did not have concomitant Doppler studies done. Of those that had doppler, 8.9% were abnormal. Blood group O positive was seen in 52.2% of cases and 23.9% were ‘A’ rhesus positive and 11.94% were ‘B’ rhesus positive. 4.48% of cases were pregnant at the time of diagnosis. 13.4% had recurrence of cyst, abdominal pain was the main presentation in 59.7% of cases, palpable mass in 4.48%, 22.4% had previous Cesarean Section. Conclusion: To determine the incidence of histologically diagnosed types of benign ovarian neoplasm in a Tertiary hospital in Central part of Saudi Arabia and compare it with other regional areas, in same country, neighboring countries and international figures.Suggestions on certain aspects that were made includes improvements, and that could possibly be a future recommendation, on diagnosis and prognosis of ovarian neoplasm, such as different combinations of tumour markers (CA125 + HE4), surgical management, recurrence rate and blood groups.
背景:良性卵巢肿瘤是临床上非常常见的疾病,很少变成恶性肿瘤。从无症状的大囊肿到不同大小的有症状的囊肿,结果一般都很好。目的:了解患者的人口学特征、囊肿的类型、表现和治疗方案。然后,将数据与其他国家和国际研究进行比较。结果:本回顾性队列研究于2015年1月1日至2018年1月31日在沙特阿拉伯利雅得安全部队医院进行。组织学诊断为卵巢良性肿瘤67例。年龄20 ~ 49岁占72.1%,平均37岁,体重指数20 ~ 36.9 Kg/m²。67.2%的病例选择性入院,88%的病例卵巢囊肿大于5cm。患侧几乎相同,右侧为35.8%,左侧为32.8%,双侧28.3%,卵巢旁囊肿为2.99%。31.3%为单胎,10.4%为多胎。胎次达6次的病例占41.8%,其中58.2%采用剖腹手术,41.8%采用腹腔镜手术。56.7%为上皮性,17.9%为功能性囊肿,16.4%为生殖细胞瘤。性索多样性占5.96%,上皮和间质成分组合占2.98%。在对所有患者进行二维超声检查期间,10.4%的患者没有同时进行多普勒检查。在多普勒超声检查中,8.9%的患者异常。O型血阳性占52.2%,A型血阳性占23.9%,B型血阳性占11.94%。4.48%的病例在确诊时已怀孕。囊肿复发占13.4%,腹痛占59.7%,可触及肿块占4.48%,有剖宫产史的占22.4%。结论:确定沙特阿拉伯中部某三级医院卵巢良性肿瘤组织学诊断类型的发生率,并与其他地区、本国、周边国家及国际数据进行比较。对某些方面提出的建议包括改进卵巢肿瘤的诊断和预后,这可能是未来的建议,例如肿瘤标志物(CA125 + HE4)的不同组合,手术处理,复发率和血型。
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引用次数: 0
Choledocholithiasis Masquerading as Preeclampsia with Severe Features in a Patient with a History of a Cholecystectomy Case Report 胆总管结石伪装成子痫前期严重特征的患者有胆囊切除术的病例报告
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1170
S. Nahidi, S. Dave, Brittany N Robles, Amr Shayeb
A 43-year-old multigravida patient, 12 days postpartum and with a history of cholecystectomy, presented to our institution with markedly elevated blood pressure, nausea, vomiting, epigastric pain, and headache. She met the criteria for preeclampsia with severe features and was placed on magnesium sulfate. Further investigation was required when the laboratory values and abdominal pain were unresponsive to the medications. A magnetic resonance cholangiopancreatography was done and the patient was diagnosed with choledocholithiasis.
一例43岁多孕患者,产后12天,有胆囊切除术史,因血压明显升高、恶心、呕吐、胃脘痛和头痛就诊。她符合严重子痫前期的标准,并给予硫酸镁治疗。当实验值和腹痛对药物无反应时,需要进一步调查。经磁共振胆管造影,诊断为胆总管结石。
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引用次数: 0
Uterine Leiomyoma in Postmenopausal Women: Possible Reasons for Growth and Differential Diagnosis 绝经后妇女子宫平滑肌瘤:生长和鉴别诊断的可能原因
Pub Date : 2021-12-30 DOI: 10.33425/2639-9342.1173
H. Shigeta, R. Asano, Yuka Oi, Kayo Katayama, Yumi Ishidera
Background: Uterine leiomyomas appear after menarche, typically grow during the reproductive years, and then stabilize or regress after menopause. However, there have been several reports of a considerable number of patients who have undergone surgery for uterine leiomyomas during the postmenopausal period. In this paper, we discuss two issues: the possible reasons for the growth of uterine leiomyomas and the differential diagnoses of presumed leiomyomas in postmenopausal women. Methods: PubMed was searched for studies about uterine leiomyomas and sarcomas with a focus on postmenopausal women. Main findings: Several hypotheses exist for the growth of postmenopausal leiomyomas. Among these, we propose the following as an important candidate: estrogen and progesterone do not necessarily work in a positive way. In addition, in postmenopausal patients, the incidence of malignant tumors is very high, and it is generally difficult to diagnose uterine sarcoma prior to surgery. Conclusion: We propose that in cases in which uterine sarcomas cannot be ruled out, physicians should proactively consider surgery, particularly for postmenopausal patients.
背景:子宫平滑肌瘤出现在月经初潮后,通常在生育年龄生长,绝经后稳定或消退。然而,有几份报告显示,相当多的患者在绝经后接受了子宫平滑肌瘤手术。在本文中,我们讨论两个问题:子宫平滑肌瘤生长的可能原因和子宫平滑肌瘤的鉴别诊断在绝经后妇女。方法:检索PubMed关于子宫平滑肌瘤和肉瘤的研究,重点是绝经后妇女。主要发现:绝经后平滑肌瘤的生长存在几种假说。其中,我们提出以下作为一个重要的候选:雌激素和黄体酮不一定以积极的方式起作用。此外,在绝经后患者中,恶性肿瘤的发生率非常高,术前一般难以诊断子宫肉瘤。结论:我们建议在不能排除子宫肉瘤的病例中,医生应积极考虑手术,特别是绝经后患者。
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引用次数: 0
Do Patients with A History of Pre-Eclampsia Have Elevated Levels of Coagulation and Angiogenic Markers Postpartum? 有先兆子痫病史的患者产后凝血和血管生成标志物水平升高吗?
Pub Date : 2021-10-30 DOI: 10.33425/2639-9342.1163
Fatma S. Abad, B. Birch, B. V. van Rijn, B. Lwaleed
Background: Pre-eclampsia (P-EC) is a pregnancy-specific disorder, characterised by placental insufficiency and endothelial dysfunction. It is a significant cause of maternal and fetal morbidity. Women with a history of P-EC have heightened risks of future cardiovascular and thromboembolic disease. In addition, pre- clamptic patients have elevated levels of clotting and angiogenic factors; however it is unclear whether these changes persist postpartum. Aims: The aim of this study was to investigate the relationship between haemostatic as well as angiogenic and anti-angiogenic factors in women with a past-history of P-EC, including vascular endothelial growth factor (VEGF), placental growth factor (PlGF), soluble fms-like tyrosine kinase-1 (sFlt-1) and soluble endoglin (sEng), in combination with tissue factor (TF) and TF pathway inhibitor (TFPI), also whether these factors were altered postpartum in women with a history of P-EC. Methods: The study followed a case-control design. Blood samples were obtained at 6-12 months postpartum from 21 primiparous women after a pregnancy affected by P-EC, and 21 women with a previously unaffected pregnancy. Plasma concentrations of each of the factors were determined using enzyme-linked immunosorbent assay. Results: Significant differences were not observed in levels of VEGF (p=0.068), PlGF (p=0.333), sFlt-1 (p=0.910), sEng (p=0.612), TF (p=0.260) or TFPI (p=0.786) between women with and without a history of pre-eclampsia. Additionally, no significant difference was found in the TF: TFPI ratio between case and control groups (p=0.734). Conclusion: This study does not support the hypothesis that levels of VEGF, PlGF, sFlt-1, sEng, TF or TFPI are altered in women with a history of P-EC compared to controls. However, we observed a weak positive association between all parameters measured. While we acknowledge that this is a pilot study and that the sample sizes is relatively small, our results suggest that circulating haemostatic, angiogenic and anti-angiogenic factors are not significantly altered in women with a past-history of P-EC.
背景:先兆子痫(P-EC)是一种妊娠特异性疾病,以胎盘功能不全和内皮功能障碍为特征。它是孕产妇和胎儿发病的重要原因。有P-EC病史的女性未来发生心血管和血栓栓塞性疾病的风险更高。此外,钳夹前患者凝血和血管生成因子水平升高;然而,尚不清楚这些变化是否会在产后持续。目的:本研究的目的是探讨有P-EC病史的妇女的止血、血管生成和抗血管生成因子,包括血管内皮生长因子(VEGF)、胎盘生长因子(PlGF)、可溶性纤维样酪氨酸激酶-1 (sFlt-1)和可溶性内啡肽(sEng)与组织因子(TF)和TF途径抑制剂(TFPI)的关系,以及这些因子在P-EC病史妇女的产后是否发生改变。方法:采用病例-对照设计。在产后6-12个月采集了21名患P-EC的孕妇和21名未患P-EC的孕妇的血液样本。采用酶联免疫吸附法测定各因子的血浆浓度。结果:有和没有先兆子痫病史的女性在VEGF (p=0.068)、PlGF (p=0.333)、sFlt-1 (p=0.910)、sEng (p=0.612)、TF (p=0.260)和TFPI (p=0.786)水平上无显著差异。此外,病例组与对照组的TF: TFPI比值无显著差异(p=0.734)。结论:本研究不支持有P-EC病史的女性与对照组相比,VEGF、PlGF、sFlt-1、sEng、TF或TFPI水平发生改变的假设。然而,我们观察到所有测量参数之间存在弱正相关。虽然我们承认这是一项初步研究,样本量相对较小,但我们的结果表明,循环止血、血管生成和抗血管生成因子在既往有P-EC病史的女性中没有显着改变。
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引用次数: 1
Triplet Pregnancy with a Complete Hydatidiform Mole and Two Live Fetuses: A Case Report 三胞胎妊娠伴完整葡萄胎和两个活胎:1例报告
Pub Date : 2021-10-30 DOI: 10.33425/2639-9342.1166
Pancieri Bárbara Gobetti, Ozório Carla Nassur, Gomes Carolina Viana Bueno, Ribeiro Ana Paula Alves, Vasconcellos Vitor Fiorin, Musiello Rubens Bermudes, Chambô Filho Antönio
Background: A complete hydatidiform mole (CHM) coexistent with a live fetus is rare; however, in a triplet pregnancy it is even rarer. In such cases, diagnosis is complex and often delayed, since unlike cases of a hydatidiform mole alone, the coexisting CHM often fails to be detected at ultrasound, while Β-hCG, a marker of the disease, is already elevated because of the multiple pregnancy. The risk of maternal complications and of progression to malignant gestational trophoblastic disease is significantly greater in cases of a complete mole. Case: The case reported here refers to a triplet pregnancy consisting of two viable fetuses and a CHM. Conclusion: Outcome was favorable for the two live fetuses; however, the hydatidiform mole progressed to an invasive mole, requiring chemotherapy. Remission was achieved successfully.
背景:完全葡萄胎(CHM)与活胎共存是罕见的;然而,在三胞胎怀孕中,这种情况更罕见。在这种情况下,诊断是复杂的,往往是延迟的,因为与单独的葡萄胎不同,共存的CHM通常无法在超声检查中发现,而Β-hCG,一种疾病的标志物,已经因为多胎妊娠而升高。在完全痣的情况下,母体并发症和进展为恶性妊娠滋养细胞疾病的风险明显更大。病例:这里报告的病例是指由两个可存活胎儿和一个CHM组成的三胞胎妊娠。结论:两例活胎结局良好;然而,葡萄胎发展为侵袭性葡萄胎,需要化疗。病情得以成功缓解。
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引用次数: 0
A Case of Fatal Maternal-Fetal Conflict: HELLP Syndrome Diagnosed in a Second Trimester Pregnancy 致死性母胎冲突1例:妊娠中期诊断为HELLP综合征
Pub Date : 2021-10-30 DOI: 10.33425/2639-9342.1165
N. Do, S. Nahidi, S. Dave, Sean Borden, D. Faustin
HELLP syndrome is part of the preeclampsia-eclampsia spectrum, and it typically presents after 20 weeks of gestation. In this case report, we review the hypotheses for the pathophysiology of HELLP and report one of the few cases of the syndrome presenting prior to 20 weeks of gestation.
HELLP综合征是先兆子痫-子痫谱系的一部分,通常在妊娠20周后出现。在本病例报告中,我们回顾了HELLP的病理生理假说,并报告了少数在妊娠20周前出现的综合征病例之一。
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引用次数: 0
Sexual Health after Menopause: A Qualitative Study 绝经后性健康:一项定性研究
Pub Date : 2021-10-30 DOI: 10.33425/2639-9342.1164
Adekemi E. Olowokere RM, Ademidun O. Adedeji RM, Aanuoluwapo O. Olajubu RM, Mercy K. Aladegboye RM, Omolola O Irinoye RM
Background: Menopause has been associated with decline in sexual well-being among women. The quality of sexual interactions in heterosexual relationship are increasingly being considered as an important indicator of positive health and quality of life. Objectives: This article describes the sexual health status of menopausal women and the challenges preventing them from having a fulfilling sexual life. Method: This was an exploratory qualitative interview. Seventeen (17) menopausal women were interviewed individually and face-to-face using semi-structured interview guide. The interviews were analyzed using content and thematic analysis. Results: The analysis yielded two themes for sexual health status; (a) good sexual health status and (b) poor sexual health status. Majority of the study participants claimed to have poor sexual health status. The challenges to having a fulfilling sexual life yielded four themes; (a) fear (b) lack of sexual partner (c) ageing process and (c) being breadwinner of the family. Conclusion: The study concludes that majority of the women in the study have poor sexual health status and diverse challenges to having a fulfilling sexual life. This article offers a premise for healthcare providers to see the necessity to inquire about sexual health from post-reproductive age women and to provide necessary support that can help improve their sexual health.
背景:更年期与女性的性幸福感下降有关。异性关系中性互动的质量越来越被认为是积极健康和生活质量的一个重要指标。目的:本文描述了绝经期妇女的性健康状况和阻碍她们有一个满意的性生活的挑战。方法:采用探索性定性访谈法。采用半结构化访谈指南对17名绝经期妇女进行单独和面对面访谈。使用内容分析和主题分析对访谈进行分析。结果:分析得出性健康状况的两个主题;(a)良好的性健康状况和(b)不良的性健康状况。大多数研究参与者声称自己的性健康状况不佳。拥有美满性生活的挑战产生了四个主题;(a)恐惧(b)缺乏性伴侣(c)衰老过程和(c)成为家庭的经济支柱。结论:该研究得出的结论是,大多数参与研究的女性性健康状况不佳,面临着各种各样的挑战,无法过上满意的性生活。这篇文章提供了一个前提,让医疗保健提供者看到有必要向育龄后妇女询问性健康问题,并提供必要的支持,以帮助改善她们的性健康。
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引用次数: 1
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Gynecology & reproductive health
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