PURPOSE: We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND METHODS: Two hundred seventy-nine KoOC patients were enrolled from three university hospitals between 2012 and 2017. Their peripheral blood samples were obtained for BRCA1/2 mutation analysis by direct sequencing. Clinicopathological characteristics were retrospectively reviewed, and spectrum analyses of BRCA1/2 mutation were assessed by systematic literature review. RESULTS: Frequency of BRCA1/2 mutations was 16.5% in KoOC patients. BRCA1/2 mutations were significantly associated with family history of breast/ovarian cancer (p<0.001), serous histology (p=0.044), and advanced International Federation of Gynecology and Obstetrics (FIGO) stage (III/IV, p=0.018) but not with early age-of-onset (age < 50, p=0.729). Literature review of BRCA1/2 mutations in KoOC patients found 111 (55 distinct) mutations with high proportion of Korean-specific mutations (24/55, 43.6%). Comparing the spectrum of BRCA1/2 mutation between KoOC and Korean breast cancer (KoBC) patients, the ratio of BRCA1-to-BRCA2 mutations was different, with BRCA1 (78.4%) being predominant in KoOC and BRCA2 in KoBC (59.2%). The most common mutation also differed between the two (c.3627insA of BRCA1 in KoOC and c.7480C>T of BRCA2 in KoBC). CONCLUSION: The clinical relevance of BRCA1/2 mutations in KoOC patients was confirmed but that of early age-of-onset was not. Possible inconsistency in the ratio of BRCA1-to-BRCA2 mutations and the most common mutation between KoOC and KoBC may probably suggest presence of mutation sequence-associated penetrance tendency in hereditary Korean breast and ovarian cancer. These data may provide insights for optimal genetic counseling and prophylactic treatment for at-risk relatives of KoOC patients.
Asian Continental Ancestry Group ; Breast ; Breast Neoplasms ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Counseling ; Germ-Line Mutation ; Gynecology ; Hospitals, University ; Humans ; Obstetrics ; Ovarian Neoplasms ; Penetrance ; Retrospective Studies

OBJECTIVE: The purpose of this study was to evaluate the group B streptococcus (GBS) colonization rate in pregnant Korean women using selective culture media for GBS and to identify obstetrical complications and GBS-induced early-onset neonatal sepsis. METHODS: We evaluated 1,014 pregnant women who delivered at Busan Paik Hospital between January 2015 and December 2016. GBS colonization was assessed using chromID Strepto B agar. We evaluated GBS colonization in pregnant women, as well as the obstetrical complication and GBS-induced neonatal sepsis rates. RESULTS: The total GBS colonization rate was 11.6% (117/1,014). No significant increase was observed in the rate of pregnancy-related complications between the GBS-positive and the GBS-negative groups. Among the 134 neonates born to colonized mothers, early neonatal sepsis was reported in 2 neonates (1.5%); however, these were cases of non-GBS-induced sepsis. CONCLUSION: The GBS colonization rate (using selective culture media) in this study involving pregnant Korean women showed a higher colonization rate than that previously reported in Korea. Therefore, based on this study, we recommend GBS screening and the administration of intrapartum antibiotic prophylaxis in pregnant Korean women.
Agar ; Antibiotic Prophylaxis ; Busan ; Colon* ; Culture Media ; Female ; Humans ; Infant, Newborn ; Korea* ; Mass Screening ; Mothers ; Pregnant Women* ; Prevalence* ; Sepsis ; Streptococcus agalactiae ; Streptococcus* ; Tertiary Care Centers* ; Tertiary Healthcare*

An indirect inguinal hernia containing the fallopian tube alone is extremely rare in reproductive-aged women without any genital tract anomalies. Despite this rarity, early diagnosis and adequate management is important to prevent strangulation and recurrence. We present a case of an indirect inguinal hernia containing only the fallopian tube in the hernia sac, which was successfully reduced by using a laparoscopic total extraperitoneal approach and repaired with a polypropylene mesh.
Early Diagnosis ; Fallopian Tubes* ; Female ; Hernia* ; Hernia, Inguinal* ; Herniorrhaphy* ; Humans ; Laparoscopy ; Polypropylenes ; Recurrence

OBJECTIVE: The aim of this study was to investigate whether massive proteinuria in preeclampsia is associated with maternal and fetal complications. METHODS: We retrospectively analyzed the clinical records of 233 patients who were diagnosed with preeclampsia. We divided the preeclamptic patients into three groups based on the amount of proteinuria: massive (≥5 g/24 hr), moderate (2 to 5 g/24 hr) and mild (<2 g/24 hr) proteinuria group. We analyzed the clinical characteristics and maternal and neonatal complications among three groups. RESULTS: Gestational age at diagnosis and delivery were lower in women with massive and moderate proteinuria group than women with mild proteinuria group (31.5±3.1 vs. 32.3±3.6 vs. 34.0±3.5 weeks, P<0.001 for gestational weeks at diagnosis; 34.6±3.6 vs. 35.1±4.1 vs. 36.9±4.0 weeks, P=0.001 for gestational age at delivery). In maternal complications, the incidences of pleural effusion and retinal detachment were significantly different among three groups (29.9% vs. 22.4% vs. 9.0%, P=0.004 for pleural effusion; 11.5% vs. 3.0% vs. 1.3%, P=0.009 for retinal detachment). Creatinine levels were higher and albumin levels were lower in the massive proteinuria group than in the moderate and mild groups. However, other maternal and neonatal complications were not significantly different among three groups. CONCLUSION: Massive proteinuria might be associated with renal albumin excretion-related morbidity, such as pleural effusion, retinal detachment, and low serum albumin levels. Furthermore, it was associated with early-onset preeclampsia and early delivery.
Creatinine ; Diagnosis ; Female ; Gestational Age ; Humans ; Incidence ; Pleural Effusion ; Pre-Eclampsia* ; Pregnancy Complications ; Proteinuria* ; Retinal Detachment ; Retinaldehyde ; Retrospective Studies ; Serum Albumin

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.
46, XY Disorders of Sex Development ; Androgen-Insensitivity Syndrome ; Disorders of Sex Development ; Female* ; Gonadal Dysgenesis ; Gonadal Dysgenesis, 46,XY ; Gonads ; Humans ; Karyotype* ; Male

Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.
Adolescent ; Cervix Uteri ; Coinfection ; Diagnosis ; Drainage ; Dysmenorrhea ; Female ; Gynecological Examination ; Humans ; Magnetic Resonance Imaging ; Pelvic Pain ; Puberty ; Suppuration ; Uterus ; Vagina ; Vaginal Discharge ; Young Adult

OBJECTIVES: To investigate brain oscillatory characteristics according to brightness and color temperature of light emitting diode (LED) light in young and elderly subjects. METHODS: We analyzed 22 young (age, 29.0±5.2 years) and 23 elderly (age, 64.8±4.5 years) healthy subjects. A LED light source was used with a combination of two color temperature (6,500 K vs. 3,000 K) and two brightness (700 lx vs. 300 lx) conditions. Participants were exposed to each light condition in relaxed wakefulness. Then, we analyzed power spectral density and functional connectivity from eye-open electroencephalography. RESULTS: A main effect of brightness on delta (p=0.044) and theta (p=0.038) power was significant in the elderly subjects. Bright light enhanced delta and theta power in the frontal region. By contrast, power spectral density of young subjects was affected by color temperature; high color temperature significantly increased beta-band power of the central region (p=0.034). Regarding functional connectivity, a significant effect of color temperature was observed in delta (p=0.006) and beta (p=0.046) frequencies. High color temperature light enhanced beta connectivity of young subjects (p=0.007), while not affecting that of elderly subjects (p=0.979). CONCLUSIONS: The present study demonstrated that spectral power and functional connectivity as well as subjective feelings are affected by the brightness and color temperature of LED light. These results might help us to understand the neurophysiological effects of light and identify the optimal indoor lighting conditions for an individual's environment.
Aged ; Brain ; Electroencephalography ; Healthy Volunteers ; Humans ; Wakefulness

Placental chorioangioma is a benign non-trophoblastic tumor of the placenta that can have various adverse effects on the mother and fetus depending on its size. Chorioamniotic membrane separation is rare condition of detachment between the amniotic membrane and chorionic membrane. Chorioamniotic membrane separation after the second trimester of pregnancy is usually occurs after invasive procedures or may occur spontaneously; it is mostly associated with fetal abnormalities. Here, we report a case of chorioamniotic membrane separation that might be occurred caused by the seromucinous secretion from a placental chorioangioma.
Amnion ; Chorion ; Female ; Fetus ; Hemangioma* ; Humans ; Membranes* ; Mothers ; Placenta ; Pregnancy ; Pregnancy Trimester, Second

PURPOSE: To evaluate and compare the efficacy and safety of cyclosporine 0.05% (Cyporin N eye drops 0.05%) to an active comparator (Restasis®) in moderate to severe dry eye patients. METHODS: This is a multicenter, randomized, double-blind, parallel, active control, non-inferiority, phase III study. Patients had a 2-week run-in period (during the run-in period, patients used artificial tears, if applicable), and afterward 158 patients were randomly assigned treatment for 12 weeks with cyclosporine 0.05% (with artificial tears, if applicable), in which the efficacy and safety were evaluated every four weeks. RESULTS: Corneal staining tests showed that in the per protocol set group, the study group was not inferior to the control group; the results for the full analysis set analytic group were the same. The number of adverse events reported from the 158 patients was not significantly different between groups (p = 0.1107). Additionally, other evaluations, including tolerability evaluations, clinical pathology examinations, and vital signs, show that there is no difference in terms of safety between the groups. CONCLUSIONS: Cyclosporine A 0.05% (Cyporin N eye drops 0.05%) is considered to have the same efficacy and safety compared to the active comparator.
Cyclosporine* ; Dry Eye Syndromes ; Humans ; Lubricant Eye Drops ; Ophthalmic Solutions ; Pathology, Clinical ; Vital Signs

OBJECTIVE: We investigated the features of endometrial hyperplasia with concurrent endometrial cancer that had been diagnosed by endometrial sampling. Further, we attempted to identify an accurate differential diagnostic method. METHODS: We retrospectively studied 125 patients who underwent a diagnostic endometrial biopsy or were diagnosed after the surgical treatment of other gynecological lesions, such as leiomyoma or polyps. Patients were diagnosed between January 2005 and December 2013 at Busan Paik Hospital. Clinical and histopathological characteristics were compared in patients who had atypical endometrial hyperplasia with and without concurrent endometrial cancer. RESULTS: The patients were grouped based on the final pathology reports. One hundred seventeen patients were diagnosed with endometrial hyperplasia and eight patients were diagnosed with endometrioid adenocarcinoma arising from atypical hyperplasia. Of the 26 patients who had been diagnosed with atypical endometrial hyperplasia by office-based endometrial biopsy, eight (30.8%) were subsequently diagnosed with endometrial cancer after they had undergone hysterectomy. The patients with endometrial cancer arising from endometrial hyperplasia were younger (39.1 vs. 47.2 years, P=0.0104) and more obese (body mass index 26.1+/-9.6 vs. 23.8+/-2.8 kg/m2, P=0.3560) than the patients with endometrial hyperplasia. The correlation rate between the pathology of the endometrial samples and the final diagnosis of endometrial hyperplasia was 67.3%. CONCLUSION: In patients with atypical endometrial hyperplasia, the detection of endometrial cancer before hysterectomy can decrease the risk of suboptimal treatment. The accuracy of endometrial sampling for the diagnosis of concurrent endometrial carcinoma was much lower than that for atypical endometrial hyperplasia. Therefore, concurrent endometrial carcinoma should be suspected and surgical intervention should be considered in young or obese patients who present with atypical endometrial hyperplasia.
Biopsy* ; Busan ; Carcinoma, Endometrioid ; Diagnosis ; Endometrial Hyperplasia ; Endometrial Neoplasms* ; Female ; Humans ; Hyperplasia* ; Hysterectomy ; Leiomyoma ; Pathology ; Polyps ; Retrospective Studies