Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

Multicentric Florid Cystic Endosalpingiosis in Different Anatomical Spaces:A Case Report

Endosalpingiosis is a condition that causes the non-neoplastic proliferation of ectopic tubal epithelium. Florid cystic endosalpingiosis is an atypical subtype that is very rarely reported. It presents as a mass-like feature and therefore needs to be differentiated from tumorous conditions. Here, we report the imaging findings of a case of multicentric florid cystic endosalpingiosis in the extraperitoneal pelvic cavity and the retroperitoneal spaces.

Multicentric Florid Cystic Endosalpingiosis in Different Anatomical Spaces:A Case Report

Endosalpingiosis is a condition that causes the non-neoplastic proliferation of ectopic tubal epithelium. Florid cystic endosalpingiosis is an atypical subtype that is very rarely reported. It presents as a mass-like feature and therefore needs to be differentiated from tumorous conditions. Here, we report the imaging findings of a case of multicentric florid cystic endosalpingiosis in the extraperitoneal pelvic cavity and the retroperitoneal spaces.

Efficient Production of Murine Uterine Damage Model

BACKGROUND: Thin or damaged endometrium causes uterine factor-derived infertility resulting in a failure of embryonic implantation. Regeneration of endometrium is a major issue in gynecology and reproductive medicine. Various types of cells and scaffolds were studied to establish an effective therapeutic strategy. For this type of investigations, production of optimal animal models is indispensable. In this study, we tried to establish various murine uterine damage models and compared their features. METHODS: Three to ten-week-old C57BL/6 female mice were anesthetized using isoflurane. Chemical and mechanical methods using ethanol (EtOH) at 70 or 100% and copper scraper were compared to determine the most efficient condition. Damage of uterine tissue was induced either by vaginal or dorsal surgical approach. After 7-10 days, gross and microscopic morphology, safety and efficiency were compared among the groups. RESULTS: Both chemical and mechanical methods resulted in thinner endometrium and reduced number of glands. Gross morphology assessment revealed that the damaged regions of uteri showed various shapes including shrinkage or cystic dilatation of uterine horns. The duration of anesthesia significantly affected recovery after procedure. Uterine damage was most effectively induced by dorsal approach using 100% EtOH treatment compared to mechanical methods. CONCLUSION: Taken together, murine uterine damage models were most successfully established by chemical treatment. This production protocols could be applied further to larger animals such as non-human primate.

Hemoperitoneum: a complication of loop electrosurgical excision procedure

Loop electrosurgical excision procedure (LEEP) is commonly performed for the management of cervical intraepithelial neoplasia. Although LEEP is considered to be a relatively simple procedure, several unexpected complications have been reported in the literature. Herein, we report a case of hemoperitoneum caused by uterine perforation following LEEP. Blood collection in pelvic cavity and two small defects of the uterus were confirmed by diagnostic laparoscopy. The defects were sutured and the patient recovered well after the operation.

Gastric type mucinous endocervical adenocarcinoma of the uterine cervix: very rare and interesting case

Gastric type mucinous endocervical adenocarcinomas of the uterine cervix (GAC) are a newly classified mucinous subtype with morphologically in 2014, WHO. They have a much more aggressiveness and show unusual metastatic patterns compared to usual type endocervical adenocarcinoma. They tend to present at higher stage and even in stage I, they have worse survival. Therefore, differential diagnosis of GAC from the usual type of endocervical adenocarcinoma is very important because they are related to a significant risk of recurrence and decreased 5-year disease-specific survival. Besides, GACs are mostly not associated with human papillomavirus (HPV) infection and p16 immunohistochemistry is also typically negative in GAC that is HPV-unassociated tumor. We report a very rare and interesting case of stage IB1 GAC with negative HPV DNA and p16.

Predictors of Breast Self Examination Practice among North Korean Immigrant Women

BACKGROUND: Breast cancer is one of the most commonly diagnosed cancers in women worldwide. Immigrant women face cultural and social impediments, discrimination, and emotional and mental stressors; and they participate less in breast cancer prevention services. Breast self examination (BSE) may be effective in early detection. The purpose of this descriptive cross-sectional study was to identify the practice of BSE and to examine predictors related to the practice of BSE among North Korean female immigrants residing in South Korea. METHODS: Data were collected from a convenience sample of 131 North Korean female immigrants aged 20 years through 65 years who had attended community centers, local churches, and women's gatherings located in Incheon, Kyeongkido, Seoul, and Jeju. RESULTS: This study found that 17.6% of the women performed BSE and 8.4% were taught the methods of detecting breast cancer including BSE. Two significant predictors to performing BSE were found-good perceived health status (P=.003)and education about breast cancer screening and the breast self examination (P<.001). CONCLUSIONS: The results showed that North Korean female immigrants who were taught the detecting methods of breast cancer including BSE were more likely to practice BSE.

Primary omental torsion diagnosed during hysterectomy

Omental torsion is a rare cause of acute abdominal pain. It presents with nonspecific symptoms and signs of an acute abdomen, making it difficult to diagnose preoperatively, because symptoms mimic those caused by other conditions such as appendicitis, cholecystitis, diverticulitis, and other gynecologic diseases. Computed tomography is an effective and useful method to diagnose and exclude other acute abdominal conditions. Our case presented with sudden right upper abdominal pain with tenderness, rebound tenderness, mild fever (37.2degrees C), increased erythrocyte sedimentation rate (37 mm/hr), increased high-sensitivity C-reactive protein level (5.97 mg/dL). Computed tomography showed a large, well-circumscribed heterogeneous fatty mass and a 7.3 cm subserosal myoma. We could not exclude the myoma as the cause of acute abdominal pain, so we performed an emergency operation with suspicion of omental torsion or necrotic degeneration of the myoma. During the operation, we diagnosed primary omental torsion with infarction and subserosal myoma without secondary degeneration.

A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal malformation, cryptochidism, varying degree of developemental delay. Due to the extremely variable phenotypic and cytogenetic expression, CT8M has gone undiagnosed in certain patients. We report a 28-year-old women with secondary amenorreha without characteristic CT8M phenotype. Chromosomal analysis showed a CT8M (47,XX,+8[9]/46,XX[41]).

Molecular Genetic Typing of Legionella pneumophila Strains Isolated in Jejudo, Korea

Twenty two strains of Legionella species isolated from Jejudo, Korea were identified by comparing the rpoB (300 bp), dotA (360 bp), and mip (396 bp) gene sequence analysis. Furthermore, their genotypes were determined by sequence analysis of rpoB/dotA subgroup typing, pulse-field gel electrophoresis (PFGE) and random amplified polymorphic DNA (RAPD) patterns. Of the 22 isolates, 21 strains were identified as L. pneumophila and 1 strain was close to L. erythra (>95% similarity of rpoB and mip). Most of the L. pneumophila strains (90%) belonged to P-I of rpoB/dotA subgroup typing, one strain of each P-III and P-IV. L. pneumophila isolates were further grouped into 4 and 6 different PFGE (P1 to P4) and RAPD (R1 to R6) patterns, respectively. On the basis of these genotypes, which may be useful for future epidemiological studies, existence of diverse L. pneumophilla population in Jejudo, Korea were observed.

A case of microinvasive Paget's disease of the vulva: Treatment of positive resection margin with topical 5-FU cream application / 대한산부인과학회지

Extramammary Paget's disease of the vulva is a rare lesion that accounts for 1~2% of vulvar neoplasms. Paget's disease often has a microscopic extension beyond the gross lesion and shows a multifocal distribution. Positive resection margin is common. We applied 5-FU cream on the lesion who had a positive resection margin. There was no residual lesion on multiple punch biopsies after 5-FU cream treatment three months later. And there has been no evidence of disease recurrence in the 12-month follow-up period. We experienced a case of effective treatment with 5-FU cream in microinvasive Paget's disease of the vulva with positive resection margin. We present it with a brief review of literatures.

Establishment and characterization of secondary drug resistant cell line originating from cisplatin-resistant SNU-8 / 대한산부인과학회지

OBJECTIVE: Multidrug resistance to chemotherapy is a major obstacle in attempts to improve the clinical outcome of ovarian carcinoma patients. The aim of this study is to establish secondary anticancer drug resistant cell line from original SNU-8/WT resistant to cisplatin and characterize it. METHODS: After establishing secondary drug resistant cell line (SNU-8/Fac), drug sensitivity was measured by MTT assay. Multidrug resistance (MDR) was analyzed by RT-PCR and western blotting analysis. RESULTS: MTT assay data demonstrated that MDR was expressed in SNU-8/Fac. In addition, mRNA expression of MDR1, ATP7B in SNU-8/Fac was increased. However, overexpression of MRP1, BCRP, TS and MT mRNA was not observed. At the protein level, protein P-gp, ATP7B were overexpressed in SNU-8/Fac. CONCLUSION: We established a new anticancer drug resistant cell line from original SNU-8/WT. Overexpression of P-gp and ATP7B was observed in SNU-8/Fac.

Isolated abducens nerve palsy in severe pre-eclampsia: A case report / 대한산부인과학회지

Neurological manifestation of pre-eclampsia is not so rare. But isolated abducens nerve palsy in pre-eclampsia is very rare. We report a case of severe pre-eclampsia with isolated abducens nerve palsy.

A Case of Intrapartum Amniotic Fluid Embolism with Seizure / 대한산부인과학회지

Amniotic fluid embolism is rare and unexpected but a life-threatening complication of pregnancy is accompanied by a high mortality rate. This syndrome usually occurs at the time of delivery. Classical clinical features are sudden onset of circulatory collapse, acute respiratory distress, disseminated intravascular coagulation and neurological impairment like seizure. The diagnosis is made by identifying clinically characteristics symptoms, and by exclusion of other cause. We report one case of a patient with amniotic fluid embolism, which showed atypical symptoms like seizure.

1 case of Meigs' syndrome with markedly elevated serum CA 125 level / 대한산부인과학회지

Meigs' syndrome is named when benign and solid ovarian tumors with the gross appearance of a fibroma is accompanied by ascites and pleural effusion, which disappear after removal of the ovarian tumors. Ovarian tumors with markedly elevated CA 125 level are highly suggestive of ovarian malignancy but, patients with Meigs' syndrome can have elevated serum CA 125 levels as well. We present a 75-year-old woman's case of Meigs' syndrome with markedly elevated serum CA 125 level (1,068 IU/mL).

A role of Cyclosporine A that suppresses multi-drug resistance (MDR) in the secondary chemotherapy drug resistant cell line of ovarian cancer / 부인종양

OBJECTIVE: Resistant, recurrent ovarian cancer patients who had first chemotherapy with Cisplatin have showed low reactivity and high recurrence in the secondary chemotherapy. Therefore, multi-drug resistance (MDR) to chemotherapy is a major obstacle in attempts to improve the clinical outcome of ovarian cancer patients. The aim of our study is to analyze the sensitivity of some chemotherapy drugs when we co-use Cyclosporine A (CsA), which suppresses MDR, in the secondary drug resistant cell line. METHODS: After establishing the secondary drug resistant cell line, drug sensitivity was measured by MTT assay. MDR gene and protein were analyzed by RT-PCR and western blotting assay. RESULTS: MDR gene (MDR1) and protein (P-gp) were overexpressed in the secondary drug resistant cell line. When we measured the sensitivity of some chemotherapy drug after using the amounts of CsA that can suppress MDR1/P-gp, the sensitivity of Paclitaxel was highest. CONCLUSION: CsA has a role that makes the sensitivity of chemotherapy drug higher in the secondary drug resistant cell line by suppression of multi-drug resistance. Therefore, we could expect that the proper use of MDR suppresser like CsA with secondary chemotherapy drug would help to cure resistant, recurrent ovarian cancer patients.

The Effect on IVF-ET Outcomes of Intramural Myomas / 대한산부인과학회잡지

OBJECTIVE: The aim of this study was to assess the effect of intramural uterine myoma in patients with a normal endometrial cavity on IVF-ET cycle outcome. This study was also investigated to find out whether medical supression or myomectomy needs to precede to IVF-ET. METHODS: The subjects were 300 infertile patients who got IVF-ET from January 1999 to December 2002 at the Department of Obstetrics and Gynecology in Kyungpook National University Hospital, and they were divided into myoma group of 97 patients and non-myoma group of 203 ones. This study group did not include patients found to have large myoma (>or= 7 cm), or myoma distorting the uterine cavity. RESULTS: Compared with the results of IVF-ET according to the presence of intramural uterine myoma, pregnancy rate and implantation rate between two groups had no statistically significant differences (p>0.05). Further comparisons within the myoma group showed no difference in pregnancy rate by number of myomas or site of myomas (p>0.05). CONCLUSION: Intramural uterine myoma not distorting the uterine cavity is considered to have no effect on the outcome of IVF-ET and no difference in the pregnancy rate according to the number of myomas or site of myomas. Therefore, these findings suggest that medical treatments or myomectomy before IVF-ET is not necessary to those infertile patients with intramural uterine myomas not distorting the uterine cavity.

Serologic Markers of Hepatitis B Virus in Pregnant Women in Jeju Island / 대한간학회지

BACKGROUND/AIMS: Most cases of hepatitis B virus (HBV) are transmitted vertically in endemic areas of HBV. The positivity of serum HBeAg/HBV DNA in pregnant women is associated with vaccine failure. Recently, a national program for HBV vaccines free of charge in neonates born to HBsAg-positive pregnant women is being performed. The aim of this study was to investigate the positivity of serological markers of HBV in pregnant women in Jeju, which is an island separated from the Korean peninsula and a promising cohort to evaluate the effect of a prevention program of HBV infection. In addition, we investigated the geographic differences in the prevalence of HBV infection because it has been reported that the prevalence of HBV has been high in this area previously. METHODS: Between January 2001 and December 2002, all women who gave delivery were studied retrospectively. Women between the ages of thirty and forty, who received health screening at the Asan Medical Center health promotion center in Seoul, were analyzed as controls. RESULTS: During the study period, 1,030 pregnant women (30.8 +/- 4.3 years) and 7,270 controls (33.1 +/- 5.0 years) were enrolled. The positivity of HBsAg was high in Jeju compared with that of Seoul (6.4% vs. 4.9%) (P=0.036). The positivity of HBeAg/HBV DNA was 31.8% (21/66) in HBsAg-positive pregnant women. The positivity of anti-HBs was low in Jeju compared with that of Seoul (54.5% vs. 68.8%) (P<0.001). CONCLUSIONS: The positivity of HBsAg was found to be high in pregnant women in Jeju. Intensive supervision for HBV infection in pregnant women should be given in this area.

Effects of Media Volume on Blastocyst Formation, Cell Numbersand ICM Proportion in Mouse Two-cell Embryos / 대한불임학회지

No abstract available.

Correlationn of the ultrasonic PCO-like multicystic ovaries with clinical, hormonal and ultrasonic findings / 대한산부인과학회잡지

No abstract available.