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.

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.

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.

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.