Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.

Congenital antithrombin (AT) or serpin C1 deficiency, caused by a SERPINC1 abnormality, is a high-risk factor for venous thrombosis. SERPINC1 is prone to genetic rearrangement, because it contains numerous Alu elements. In this study, a Japanese patient who developed deep vein thrombosis during pregnancy and exhibited low AT activity underwent SERPINC1 gene analysis using routine methods: long-range polymerase chain reaction (PCR) and real-time PCR.

A Rare Case of Fetal Cardiac Hypertrophy Developing into Acute Circulatory Insufficiency and Fetal Compromise in Type 1 Diabetic Pregnancy.

Fetal cardiac hypertrophy (CH) in pregnant women with diabetes is believed to be a benign condition. We encountered a rare case of fetal CH in a pregnant woman with type 1 diabetes, which developed into severe fetal circulatory insufficiency and acidemia. Fetal echocardiography at 37-week gestation showed cardiomegaly with a ventricular hypertrophy.

Early-life midazolam exposure persistently changes chromatin accessibility to impair adult hippocampal neurogenesis and cognition.

Linkage between early-life exposure to anesthesia and subsequent learning disabilities is of great concern to children and their families. Here we show that early-life exposure to midazolam (MDZ), a widely used drug in pediatric anesthesia, persistently alters chromatin accessibility and the expression of quiescence-associated genes in neural stem cells (NSCs) in the mouse hippocampus. The alterations led to a sustained restriction of NSC proliferation toward adulthood, resulting in a reduction of neurogenesis that was associated with the impairment of hippocampal-dependent memory functions.

Evaluation of the efficacy of vaginal progesterone in preventing preterm birth after abdominal trachelectomy.

Objective: To determine whether vaginal progesterone (VP) reduces the rate of preterm birth in pregnant women after abdominal trachelectomy (AT) for early-stage cervical cancer STUDY DESIGN: This is an interventional study with a historical cohort. For the interventional study participants who had singleton pregnancies after AT between October 2016 and September 2020, the administration of vaginal progesterone was started between 16 and 19 weeks of gestation and discontinued at 34 weeks of gestation or at the time of delivery, rupture of membranes, or massive uterine bleeding. We investigated obstetric and neonatal outcomes among the study participants and compared them with outcomes of the historical control group participants, included women with singleton pregnancies after AT who were managed without VP at our institution between January 2007 and September 2016, using Fisher's exact test and the Mann-Whitney U test The main outcomes were the gestational age at delivery and incidence of preterm birth before 37 weeks and 34 weeks of gestation.

Intrathoracic shunt displacement with massive pleural effusion after successful shunt placement in a hydropic fetus with multilocular macrocystic congenital pulmonary airway malformation.

We successfully performed shunting for a fetus with a multilocular macrocystic lung mass with hydrops at 22 weeks' gestation. Complete resolution of hydrops was achieved; however, at 35 weeks' gestation, the fetus developed acute massive pleural effusion. Fetal ultrasound examination revealed that one end of the shunting tube had migrated downward in the thoracic cavity, which led to fluid draining from the lung cyst.

The impact of general anesthesia on mother-infant bonding for puerperants who undergo emergency cesarean deliveries.

Background Mother-infant bonding is an emerging perinatal issue. While emergency cesarean deliveries are associated with a risk of bonding disorders, the mode of anesthesia used for emergency cesarean deliveries has never been studied in this context. We aimed to investigate the impact of administering general anesthesia and neuraxial anesthesia to women undergoing cesarean deliveries on mother-infant bonding.

Ectopic neurogenesis induced by prenatal antiepileptic drug exposure augments seizure susceptibility in adult mice.

Epilepsy is a neurological disorder often associated with seizure that affects ∼0.7% of pregnant women. During pregnancy, most epileptic patients are prescribed antiepileptic drugs (AEDs) such as valproic acid (VPA) to control seizure activity.

HMGB2 expression is associated with transition from a quiescent to an activated state of adult neural stem cells.

Background: Although quiescent neural stem cells (NSCs) in the adult hippocampus proliferate in response to neurogenic stimuli and subsequently give rise to new neurons continuously throughout life, misregulation of NSCs in pathological conditions, including aging, leads to the impairment of learning and memory. High mobility group B family 1 (HMGB1) and HMGB2, HMG family proteins that function as transcriptional activators through the modulation of chromatin structure, have been assumed to play some role in the regulation of adult NSCs; however, their precise functions and even expression patterns in the adult hippocampus remain elusive.

Results: Here we show that expression of HMGB2 but not HMGB1 is restricted to the subset of NSCs and their progenitors.

Targeted DNA demethylation in vivo using dCas9-peptide repeat and scFv-TET1 catalytic domain fusions.

Despite the importance of DNA methylation in health and disease, technologies to readily manipulate methylation of specific sequences for functional analysis and therapeutic purposes are lacking. Here we adapt the previously described dCas9-SunTag for efficient, targeted demethylation of specific DNA loci. The original SunTag consists of ten copies of the GCN4 peptide separated by 5-amino-acid linkers.

Successful management of cervico-isthmic pregnancy delivered at term.

A 29-year-old woman was diagnosed with a cervico-isthmic pregnancy based on ultrasound findings at 8 weeks of gestation. At 30 weeks of gestation, placenta previa was confirmed. During cesarean section at 37 weeks, the placenta did not spontaneously detach from the uterus; therefore, we decided to leave it in the uterus to avoid major hemorrhage.

Cervical length predicts placental adherence and massive hemorrhage in placenta previa.

Aim: To evaluate the relationship between cervical length (CL) and obstetrical outcome in women with placenta previa.

Material And Methods:   Eighty uncomplicated, singleton pregnancies with an antenatally diagnosed previa were categorized based on CL of over 30mm (n=60) or 30mm or less (n=20). A retrospective chart review was then performed for these cases to investigate the relationship between CL and maternal adverse outcomes.