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.

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.
Cervical Intraepithelial Neoplasia ; Conization ; Hemoperitoneum ; Humans ; Laparoscopy ; Uterine Perforation ; Uterus

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.
Adenocarcinoma ; Cervix Uteri ; Diagnosis, Differential ; DNA ; Female ; Humans ; Immunohistochemistry ; Mucins ; Recurrence

The General Rules for the Study of Primary Liver Cancer was published in June 2001 as the first edition. Since then, the 5th edition of the General Rules for the Study of Primary Liver Cancer was published by the 17th Committee of the Korean Liver Cancer Association based on the most recent data. The 5th edition of the General Rules for the Study of Primary Liver Cancer ranged over numerous topics such as anatomy, medical assessment of the patients, staging of hepatocellular carcinoma, description of the image findings, summary of hepatic resection, description of the surgical specimens, liver transplantation, reporting the pathological findings, pathological examinations of liver specimen, non-surgical treatment, radiotherapy, and assessment of tumor response after non-surgical treatment of hepatocellular carcinoma. The 5th General Rules for the Study of Primary Liver Cancer will not only become the basis of academic development for liver cancer studies in Korea, but also serve as the primary form of national liver cancer data accumulation based on standardized rules.
Carcinoma, Hepatocellular ; Humans ; Korea ; Liver Neoplasms* ; Liver Transplantation ; Liver* ; Radiotherapy

No abstract available.
Humans ; Infant, Newborn*

PURPOSE: We performed this study to determine (1) whether the levels of inflammatory mediators, including matrix metalloproteinase-9 (MMP-9) and intercellular adhesion molecule-3 (ICAM-3), in gastric fluid (GF) in premature newborns are associated with those in amniotic fluid (AF) in their mothers and (2) whether the levels of the inflammatory mediators in newborn GF are associated with the presence of intrauterine inflammation (IUI). METHODS: Sixty-two pairs of pregnant women and their premature newborns born at <35 weeks' gestation by cesarean delivery were enrolled in this study. AF and newborn GFs were obtained during cesarean section procedures. Levels of MMP-9, ICAM-3, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-alpha) were measured and compared between the AF and newborn GFs in each dyad, according to the presence or absence of chorioamnionitis (CA), preterm prelabor rupture of membranes (PPROM), and preterm labor (PTL). RESULTS: The levels of MMP-9, ICAM-3, IL-6, IL-8, and TNF-alpha in newborn GF were significantly correlated with those in AF in each dyad. The premature newborns and their mothers with CA had significantly higher GF MMP-9, IL-8, and TNF-alpha levels than those without CA. Those with PPROM or PTL showed similar findings in terms of GF MMP-9, IL-8, and TNF-alpha levels. CONCLUSION: The newborn GF immediately after birth can be a useful alternative source of information on whether a premature infant has been exposed to IUI at the time of delivery.
Amniotic Fluid ; Cesarean Section ; Chorioamnionitis ; Female ; Humans ; Infant, Newborn* ; Infant, Premature ; Inflammation ; Interleukin-6 ; Interleukin-8 ; Matrix Metalloproteinase 9 ; Membranes ; Mothers ; Obstetric Labor, Premature ; Parturition ; Pregnancy ; Pregnant Women ; Rupture ; Tumor Necrosis Factor-alpha

PURPOSE: Intrauterine inflammation (IUI) is a leading cause of preterm delivery. Although matrix metalloproteinase-8 (MMP-8) and intercellular adhesion molecule-1 (ICAM-1) are known to be related with IUI, it has not been fully elucidated whether MMP-9 or ICAM-3 is associated with IUI. We performed this study to determine whether the levels of tumor necrosis factor-alpha (TNF-alpha), MMP-9 and ICAM-3 in umbilical cord blood of preterm infants are associated with chorioamnionitis, funisitis or bronchopulmonary dysplasia. METHODS: Eighty-two pairs of pregnant women and their preterm newborns <35 weeks gestation were enrolled. Levels of TNF-alpha, MMP-9 and ICAM-3 in umbilical cord blood were measured using immunoassays and compared with results of histological examination of placenta and clinical data of the study participants. RESULTS: The level of MMP-9 in umbilical cord blood was significantly associated with the presence of funisitis (P =0.007). The level of TNF-alpha in umbilical cord blood was significantly associated with the development of bronchopulmonary dysplasia (P =0.030). However, presence of chorioamnionitis or funisitis was not associated with development of bronchopulmonary dysplasia. With the establishment of receiver operating characteristic (ROC) curve, the best cut-off value for umbilical blood MMP-9 was 99.42 pg/mL in identification of funisitis. The area under a constructed ROC curve for prediction of funisitis was 0.847 (standard error, 0.112; 95% confidence interval, 0.750-0.917). CONCLUSION: Measurement of MMP-9 concentration in umbilical cord blood may be an alternative way to predict whether a preterm infant has been exposed to IUI. Further study with larger numbers of subjects will be necessary to elucidate the association between the presence of IUI and neonatal adverse outcome.
Bronchopulmonary Dysplasia ; Chorioamnionitis* ; Female ; Fetal Blood* ; Humans ; Immunoassay ; Infant, Newborn ; Infant, Premature ; Inflammation ; Intercellular Adhesion Molecule-1 ; Matrix Metalloproteinase 8 ; Matrix Metalloproteinase 9* ; Placenta ; Pregnancy ; Pregnant Women ; ROC Curve ; Tumor Necrosis Factor-alpha

BACKGROUND: The authors conducted the present study to identify clinical and radiological prognostic factors in infants and neonates with septic arthritis of the hip. METHODS: The authors retrospectively reviewed the records of 31 patients with septic arthritis of the hip. All of the patients were younger than 18 months old. Follow-up periods ranged from 5 to 17 years. The following potential variables for predicting the prognosis were included in the assessment: gender, age, underlying diseases, duration of symptoms, changes of hip joint in X-ray, concomitant osteomyelitis, elevation of erythrocyte sedimentation rate and C-reactive protein, sepsis, pus drainage, synovial fluid culture, and infecting organisms. Clinical and radiological prognoses were analyzed at the final follow-up. RESULTS: Univariate analysis demonstrated that radiological prognoses were poorer in patients who had underlying diseases, a longer duration of symptoms, and pus drainage. However, on multivariate analysis, only the variable-duration of symptoms-was found to be statistically related with a poor radiological prognosis. CONCLUSIONS: Although poor prognosis for patients with several underlying diseases and radiological changes has already been established, a favorable outcome might be expected with prompt surgical drainage and appropriate antibiotics.
Arthritis, Infectious/*diagnosis/microbiology/therapy ; Female ; Follow-Up Studies ; *Hip Joint ; Humans ; Infant ; Infant, Newborn ; Male ; Prognosis ; Retrospective Studies

OBJECTIVE: The aim of this study was to compare midtrimester maternal plasma concentrations of angiopoietin 1, angiopoietin 2, and placental growth factor between pregnant women who subsequently developed preeclampsia and those who did not. METHODS: Midtrimester maternal plasma was collected and stored at -70degrees C when genetic amniocentesis was performed. Cases included 37 samples of individual who subsequently developed preeclampsia, and matched controls were from individuals who did not develop preeclampsia. Angiopoietin 1, angiopoietin 2, and placental growth factor concentrations were measured by the enzyme-linked immunosorbent assay method and were compared using the Mann-Whitney U-test. A P-value <0.05 was considered significant. RESULTS: In pregnant women who subsequently developed preeclampsia, midtrimester maternal plasma concentrations of angiopoietin 1 and angiopoietin 2 were significantly higher and placental growth factor concentrations were significantly lower than in women who did not develop preeclampsia (angiopoietin 1: 10.6 [3.1-19.7] vs. 7.8 [0.9-24.4] ng/mL, P=0.031; angiopoietin 2: 31.0 [4.7-81.2] vs. 18.4 [4.2-49.7] ng/mL, P<0.001; placental growth factor: 87.1 [14.2-774.3] vs. 148.8 [57.2-425.6] pg/mL, P<0.001). Within the case group who subsequently developed preeclampsia, the placental growth factor was significantly lower in those who had fetal growth restrictions than in those who did not (placental growth factor: 72.5 [14.2-774.3] vs. 140.9 [44.2-257.5] pg/mL, P=0.003). CONCLUSION: Midtrimester maternal plasma concentrations of angiopoietin 1, angiopoietin 2, and placental growth factor may be associated with the subsequent development of preeclampsia.
Amniocentesis ; Angiopoietin-1* ; Angiopoietin-2* ; Enzyme-Linked Immunosorbent Assay ; Female ; Fetal Development ; Humans ; Plasma* ; Pre-Eclampsia* ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnant Women*

Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the culture method may be more representative of the true fetal karyotype. There is a concern for mosaicism which occurs in approximately 1% of cases, and mosaic results require genetic counseling and follow-up amniocentesis or fetal blood sampling. In terms of complications, procedure-related pregnancy loss rates may be the same as those for amniocentesis when undertaken in experienced centers. When the procedure is performed after 9 weeks gestation, the risk of limb reduction is not greater than the risk in the general population. At present, chorionic villus sampling is the gold standard method for early fetal karyotyping; however, we anticipate that improvements in noninvasive prenatal testing methods, such as cell free fetal DNA testing, will reduce the need for invasive procedures in the near future.
Amniocentesis ; Biomarkers ; Chorionic Villi Sampling* ; Cytogenetics ; Diagnosis ; DNA ; Extremities ; Female ; Fetal Blood ; Genetic Counseling ; Humans ; Karyotype ; Karyotyping ; Mass Screening ; Mosaicism ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First