Detection of Homozygous Deletions and Mutations in the CDKN2A Gene in Hydatidiform Moles

OBJECTIVE To investigate homozygous deletions and mutations in the CDKN2A gene(p16 INK4a and p14 ARF gene)in hydatidiform moles. METHODS A total of 38 hydatidiform mole samples and 30 villi samples were examined for homozygous deletions in the CDKN2A gene by PCR and for mutations by DHPLC. RESULTS i)Among 38 hydatidiform mole samples, homozygous deletions in the p16 INK4a exon 1 were identified in 5 cases(13.2%),while no homozygous deletions were found in the p16I NK4aexon 1 of 30 early-pregnancy samples.The rates of those deletions in hydatidiform compared to early-pregnancy villi samples was statistically significant(P=0.036).ii)No homozygous deletions in the p14 ARF exon 1 or p16 INK4a exon 2 were found in any of the hydatidiform moles or early-preganancy samples.iii) In all hydatidiform moles and early-pregnancy villi samples,no mutations were detected by DHPLC. CONCLUSION We suggest there may be a close correlation between homozygous deletions in the CDKN2A gene and occurrence of hydatidiform moles variation in the CDKN2A gene is mainly caused by homozygous deletions,while mutations may be not a major cause.

A Hospital-Based Study on Congenital Heart Defects—Haidian District,Beijing Municipality,China,2013–2022

Summary What is already known about this topic?Congenital heart defects(CHDs)represent the most prevalent birth defects in China,exhibiting significant mortality and morbidity rates.Recent years have witnessed a steady increase in the occurrence of CHDs,highlighting a crucial need for rigorous research focus.

Effect of epidural analgesia with 0.075% ropivacaine versus 0.1% ropivacaine on the maternal temperature during labor： a randomized controlled study

Background A wealth of evidence has indicated that labor epidural analgesia is associated with an increased risk of hyperthermia and overt clinical fever. Recently, evidence is emerging that the epidural analgesia-induced fever is associated with the types of the epidural analgesia and the variations in the epidural analgesia will affect the incidence of fever. The aim of the present study was to investigate the effects of epidural analgesia with 0.075% or 0.1% ropivacaine on the maternal temperature during labor. Methods Two hundred healthy term nulliparas were randomly assigned to receive epidural analgesia with either 0.1% ropivacaine or 0.075% ropivacaine. Epidural analgesia was initiated with 10 ml increment of the randomized solution and 0.5 IJg/ml sufentanyl after a negative test dose of 5 ml of 1.5% lidocaine, and maintained with 7 ml bolus doses of the abovementioned mixed analgesics every 30 minutes by the patient-controlled epidural analgesia. The measurements included the maternal oral temperature, visual analog scale pain scores, labor events and neonatal outcomes. Results Epidural analgesia with 0.075% ropivacaine could significantly lower the mean maternal temperature at 4 hours after the initiation of analgesia and the oxytocin administration during labor compared with the one with 0.1% ropivacaine. Moreover, 0.075% ropivacaine treatment could provide satisfactory pain relief during labor and had no significant adverse effects on the labor events and neonatal outcomes. Conclusion Epidural analgesia with 0.075% ropivacaine may be a good choice for the epidural analgesia during labor.

Trends in the Prevalence of Births with Chromosomal Abnormalities—Haidian District,Beijing Municipality,China,2013–2022

Summary What is already known about this topic?The primary causes of early miscarriage and stillbirth are chromosomal abnormalities(CAs)whose prevalence has been observed to increase in recent years.What is added by this report?According to data received from a hospital-based birthdefect surveillance system in the Haidian District,Beijing,there was a significant increase in the prevalence of CAs along with most subtypes from 2013 to 2022.

Periconceptional Folic Acid Only Versus Multiple Micronutrients Containing Folic Acid and Association with Gestational Diabetes Mellitus-Beijing Municipality,China,2017-2021

Summary What is already known about this topic?Inconsistent results have been reported on the association between periconceptional folic acid only(FAO)or multiple micronutrients containing folic acid(MMFA)supplementation and the risk of gestational diabetes mellitus(GDM)in previous research.What is added by this report?In a prospective cohort study conducted among pregnant women in Haidian District,Beijing Municipality,it was observed that those who took MMFA demonstrated a higher likelihood of developing GDM in comparison to those who consumed FAO periconceptionally.Interestingly,the increased risk for GDM in pregnant women supplemented with MMFA compared to FAO was primarily due to changes in fasting plasma glucose.What are the implications for public health practice?It is highly recommended that women prioritize the use of FAO in order to yield potential benefits in the prevention of GDM.

Effects of Short Interpregnancy Intervals on Adverse Pregnancy Outcomes—Haidian District,Beijing Municipality,China,2017–2019

Summary What is already known about this topic?Interpregnancy intervals(IPIs)that are either excessively long or short have been linked with an elevated risk of adverse perinatal outcomes.Presently,no pertinent guidelines have been established in China to provide clear direction with regard to optimal IPI.What is added by this report?A brief interpregnancy interval may elevate the risk of miscarriage,postpartum hemorrhage,and fetal distress among expectant women.What are the implications for public health practice?

Intrauterine Insemination Treatment Strategy for Women over 35 Years Old： Based on a Large Sample Multi-center Retrospective Analysis

As we all known, maternal age and ovarian reserve are two of the most important prognosis i-hctors for fertility, in 1980, the study of Menken et al. showed the female fertility declined after 32 years old, especially after 37 years old.

Mammalian target of rapamycin inhibitor abrogates abnormal osteoclastogenesis in neurofibromatosis type 1

Background Neurofibromatosis type 1 （NF1） is the most common genetic syndrome predisposing patients to various tumors due to dysregulation of the Ras signaling pathway. Recent research has shown NF1 patients also suffer a spectrum of bone pathologies. The pathogenesis of NF1 bone diseases is largely unknown. There is no current treatment. By Nfl heterozygote （Nf1＋/-） mice and Nfl conditional knockout mice, we and other groups demonstrated abnormal osteoblast and osteoclast function due to dysregulation of Ras signaling. However, the specific downstream effector pathways linked to NF1 abnormal osteoblastogenesis and osteoclastogenesis have not been defined. In this study, we investigated the Ras downstream effector related with NF1 bone disease. Methods We used Nf1＋/＋ and Nf1＋/- mice as normal and NF1 models. Bone stromal cells extracted from Nf1＋/＋ and Nf1＋/- mice were induced osteoclasts. The osteoclast cell was stained by tartrate resistant acid phosphatase staining. The osteoclast cell number was counted and the surface area of osteoclast cells was calculated under the microscope. The mRNA of mammalian target of rapamycin （mTOR） was determined by quantitative reverse-transcription-polymerase chain reaction. The presence of ribosomal protein S6 kinase was determined by Western blotting. Results Compared with Nf1＋/＋ mice, Nf1＋/- mice had about 20% more of osteoclast cells. These osteoclast cells were larger in size with more nuclei. Hyperactive mTOR was detected in Nf1＋/- osteoclast cells. Inhibition of roTOR signaling by rapamycin in Nf1＋/- osteoclasts abrogated abnormalities in cellular size and number. Conclusion mTOR pathway inhibition may represent a viable therapy for NF1 bone diseases.

Rate of Correct Use of Folic Acid Supplementation Among Pregnant Women—Beijing Municipality,China,2017–2019

Summary What is already known on this topic?Neural tube defects can be effectively prevented by folic acid supplementation.However,compliance with the recommendations for supplementation is still low in China.What is added by this report?This study investigated the rate of correct use of folic acid supplementation and its risk factors among pregnant women in Beijing.