Prenatal diagnosis of Jacobsen syndrome with cystic hygroma

Jacobsen syndrome (JBS) is a rare, contiguous genetic deletion syndrome caused by partial deletion of chromosome 11q. It is difficult to diagnose JBS by ultrasonography during the prenatal period because it has atypical clinical findings. Although nuchal thickening is associated with JBS, cystic hygroma has not been previously reported in conjunction with this syndrome. We describe the first prenatal diagnosis of JBS with cystic hygroma, which was clinically diagnosed at 13 weeks gestation in a Japanese woman, although it had not been detectable at the 11th week of gestation. In addition, a single ventricle fetal heart defect was suspected. Amniocentesis was performed, and G-banded karyotype evaluation revealed 46,XX,del(11)(q23), which is consistent with JBS. Cystic hygroma and congenital heart malformation have been reported to be associated with chromosomal anomalies. The present case indicates that a fetal cystic hygroma without increased nuchal thickness might be associated with JBS

Laparoscopic removal of uterine vertical compression sutures

AbstractUterine compression suturing is a relatively easy and effective way of hemostasis during cesarean section and is becoming widely accepted. However, complications such as necrosis or synechiae have been reported. We firstly report a case of laparoscopic removal of vertical compression sutures and discuss its benefits and improvements to be made. This case report is of a 32-year-old woman with placenta previa who received uterine vertical compression sutures for controlling massive bleeding during cesarean section. Because she complained of unbearable pelvic pain, laparoscopic compression suture removal was performed. Her pain was relieved after the threads were removed, suggesting that the compression sutures were the cause of her pelvic pain due to uterine ischemia. Although the risks of reoperation during the early postpartum period still exist, compression suture thread removal should be considered in cases of suspected uterine ischemia

Functional deficiency of MHC class i enhances LTP and abolishes LTD in the nucleus accumbens of mice

Major histocompatibility complex class I (MHCI) molecules were recently identified as novel regulators of synaptic plasticity. These molecules are expressed in various brain areas, especially in regions undergoing activity-dependent synaptic plasticity, but their role in the nucleus accumbens (NAc) is unknown. In this study, we investigated the effects of genetic disruption of MHCI function, through deletion of β2-microblobulin, which causes lack of cell surface expression of MHCI. First, we confirmed that MHCI molecules are expressed in the NAc core in wild-type mice. Second, we performed electrophysiological recordings with NAc core slices from wild-type and β2-microglobulin knock-out mice lacking cell surface expression of MHCI. We found that low frequency stimulation induced long-term depression in wild-type but not knock-out mice, whereas high frequency stimulation induced long-term potentiation in both genotypes, with a larger magnitude in knock-out mice. Furthermore, we demonstrated that knock-out mice showed more persistent behavioral sensitization to cocaine, which is a NAc-related behavior. Using this model, we analyzed the density of total AMPA receptors and their subunits GluR1 and GluR2 in the NAc core, by SDS-digested freeze-fracture replica labeling. After repeated cocaine exposure, the density of GluR1 was increased, but there was no change in total AMPA receptors and GluR2 levels in wildtype mice. In contrast, following repeated cocaine exposure, increased densities of total AMPA receptors, GluR1 and GluR2 were observed in knock-out mice. These results indicate that functional deficiency of MHCI enhances synaptic potentiation, induced by electrical and pharmacological stimulation

Isolated gestational proteinuria preceding the diagnosis of preeclampsia : an observational study

Introduction. Some pregnant women develop significant proteinuria in the absence of hypertension. However, clinical significance of isolated gestational proteinuria (IGP) is not well understood. This study aimed to determine the prevalence of IGP in singleton pregnancies and the proportion of women with IGP who subsequently developed preeclampsia (IGP-PE) among all PE cases. Material and methods. This was an observational study of 6819 women with singleton pregnancies at 12 centers, including 938 women with at least once determination of protein-to-creatinine ratio (P/Cr). Significant proteinuria in pregnancy (SPIP) was defined as P/Cr (mg/mg) level >0.27. IGP was defined as SPIP in the absence of hypertension. Gestational hypertension (GH) preceding preeclampsia (GH-PE) was defined as preeclampsia (PE) in which GH preceded SPIP. Simultaneous PE (S-PE) was defined as PE in which both SPIP and hypertension occurred simultaneously. Results. IGP and PE were diagnosed in 130 (1.9%) and 158 (2.3%) of 6819 women, respectively. Of 130 women with IGP, 32 (25%) progressed to PE and accounted for 20% of all women with PE. Hence, women with IGP had a relative risk of 13.1 (95% CI; 9.2-18.5) for developing PE compared with those without IGP [25% (32/130) vs. 1.9% (126/6689)]. At diagnosis of SPIP, P/Cr levels already exceeded 1.0 more often in women with S-PE than in those with IGP-PE [67% (33/49) vs. 44% (14/32), respectively, p = 0.031]. Conclusions. IGP is a risk factor for PE, and IGP-PE accounts for a considerable proportion (20%) of all PE

Gene expression signatures associated with chronic endometritis revealed by RNA sequencing

IntroductionChronic endometritis (CE) is a persistent inflammatory condition of the endometrium characterized by the infiltration of plasma cells in the endometrial stroma. CD138 immunohistochemistry is considered to improve the CE diagnosis rate.MethodsUsing the number of CD138-positive cells equal or greater than five as a diagnostic criterion for CE, we identified 24 CE and 33 non-CE cases among women with infertility. We conducted RNA-sequencing analysis for these 57 cases in total as an attempt to elucidate the molecular pathogenesis of CE and to search for new biomarkers for CE.Results and DiscussionBy comparing CE and non-CE groups, we identified 20 genes upregulated in the endometria of CE patients, including 12 immunoglobulin-related genes and eight non-immunoglobulin genes as differentially expressed genes. The eight genes were MUC5AC, LTF, CAPN9, MESP1, ACSM1, TVP23A, ALOX15, and MZB1. By analyzing samples in the proliferative and secretory phases of the menstrual cycle separately, we also identified four additional non-immunoglobulin genes upregulated in CE endometria: CCDC13 by comparing the samples in the proliferative phase, and OVGP1, MTUS2, and CLIC6 by comparing the samples in the secretory phase. Although the genes upregulated in CE may serve as novel diagnostic markers of CE, many of them were upregulated only in a limited number of CE cases showing an extremely high number of CD138-positive cells near or over one hundred. Exceptionally, TVP23A was upregulated in the majority of CE cases regardless of the number of CD138-positive cells. The upregulation of TVP23A in the endometria of CE cases may reflect the pathophysiology of a cell-type or cell-types intrinsic to the endometrium rather than the accumulation of plasma cells. Our data, consisting of clinical and transcriptomic information for CE and non-CE cases, helped us identify gene expression signatures associated with CE

AMP-Activated Protein (AMPK) in Pathophysiology of Pregnancy Complications

Although the global maternal mortality ratio has been consistently reduced over time, in 2015, there were still 303,000 maternal deaths throughout the world, of which 99% occurred in developing countries. Understanding pathophysiology of pregnancy complications contributes to the proper prenatal care for the reduction of prenatal, perinatal and neonatal mortality and morbidity ratio. In this review, we focus on AMP-activated protein kinase (AMPK) as a regulator of pregnancy complications. AMPK is a serine/threonine kinase that is conserved within eukaryotes. It regulates the cellular and whole-body energy homeostasis under stress condition. The functions of AMPK are diverse, and the dysregulation of AMPK is known to correlate with many disorders such as cardiovascular disease, diabetes, inflammatory disease, and cancer. During pregnancy, AMPK is necessary for the proper placental differentiation, nutrient transportation, maternal and fetal energy homeostasis, and protection of the fetal membrane. Activators of AMPK such as 5-Aminoimidazole-4-carboxamide ribonucleotide (AICAR), resveratrol, and metformin restores pregnancy complications such as gestational diabetes mellitus (GDM), preeclampsia, intrauterine growth restriction, and preterm birth preclinically. We also discuss on the relationship between catechol-O-methyltransferase (COMT), an enzyme that metabolizes catechol, and AMPK during pregnancy. It is known that metformin cannot activate AMPK in COMT deficient mice, and that 2-methoxyestradiol (2-ME), a metabolite of COMT, recovers the AMPK activity, suggesting that COMT is a regulator of AMPK. These reports suggest the therapeutic use of AMPK activators for various pregnancy complications, however, careful analysis is required for the safe use of AMPK activators since AMPK activation could cause fetal malformation

Relationship between fetal heart rate patterns and a time course for evaluation of fetal well-being: “the 30 minutes rule” for decision of mechanical delivery

Objective: To predict acidosis in fetus showing deceleration associated with non-reassuring fetal status during delivery, we examined the relationship between duration of the deceleration and umbilical arterial pH. Materials and methods: A total of 19,907 deliveries in eight facilities of the Juntendo Perinatal Care Group, 895 cases of vaginal deliveries with level 3 decelerations were selected for the subjects of this study. The cut-off point of time when the umbilical arterial pH fell below 7.20 in all cases of level 3 and for each deceleration type were examined. The explanatory variables were the pH and pO2 of umbilical arterial gas and the time from onset of the level 3 pattern to delivery. From receiver operating characteristic (ROC) analysis using these variables, the critical point indicating low Apgar score was set at an umbilical arterial pH < 7.20. Results: The cut-off point of time when the umbilical arterial pH fell below 7.2 was 33.5 min for all cases of level 3, and 604 cases of severe variable decelerations with normal baseline variability and normal baseline heart rates, the cut-off point was 33.5 min as well. For 108 cases of late decelerations, there was no significant cut-off point for either the mild or severe cases. Mild prolonged deceleration showed the cut-off point of 34.5 min. Conclusions: We confirmed the time indices for predicting and preventing acidosis in fetuses showing decelerations. To prevent fetal acidosis, the decision related to proper timing for performing assisted delivery by considering the time course is important

Isolated incisional recurrence in a patient with early-stage endometrial cancer: A case report and review of the literature

Isolated incisional recurrence in a patient with early-stage endometrioid carcinoma is extremely rare. The mechanism of this recurrence also remains unclear. We describe a case of an isolated incisional recurrence of endometrioid carcinoma from the uterine corpus 4 years after the primary surgery. We review the previous literature and discuss the possible mechanism of isolated incisional recurrence. A 56-year-old woman diagnosed with the International Federation of Gynecology and Obstetrics Stage IA and Grade 2 endometrioid carcinoma in the uterine corpus showed an isolated cystic mass in the abdominal wall 4 years after the primary surgery. She underwent resection of the abdominal tumor, and the pathological findings showed endometrioid carcinoma, which was the same as the primary tumor. She received chemotherapy and remained disease free 8 months after chemotherapy. Long-term follow-up is required to detect recurrence, even in patients with early-stage uterine corpus carcinoma

Respiratory Distress Syndrome in Infants Delivered via Cesarean from Mothers with Preterm Premature Rupture of Membranes: A Propensity Score Analysis

Objective. This study aimed to clarify the effects of cesarean delivery on neonatal respiratory morbidity when women had preterm premature rupture of membranes. Methods. This retrospective study included women with preterm premature rupture of membranes who delivered from 23 weeks to 33 weeks of gestation between January 2009 and December 2014. Neonatal outcomes were compared between infants delivered by cesarean section and those delivered vaginally. The primary outcome was respiratory distress syndrome (RDS). Neonatal intubation and mechanical ventilation periods were secondary outcomes. Propensity score matching was used to compare outcomes between cesarean and vaginal delivery cases. Results. There were 101 cesarean deliveries and 89 vaginal deliveries. A comparison of the presence or absence of neonatal complications based on the delivery type indicated a higher occurrence of RDS with cesarean deliveries (P=0.025). The intubation and mechanical ventilation periods were not significantly longer in neonates delivered via cesarean section. Conclusions. Cesarean delivery is a risk factor for neonatal RDS in women with preterm premature rupture of membranes. Trials identifying long-term neonatal prognoses are needed to further develop optimal management strategies in such cases