A case of fetal isolated ventricular noncompaction with TNNT2 gene mutation and literature review.

BACKGROUND: Ventricular noncompaction (VNC) is a cardiomyopathy characterized by overdeveloped ventricular trabeculaes and deep recess, which has been rarely reported. CASE PRESENTATION: A 29-year-old Chinese pregnant woman with no obvious fetal abnormality in regular prenatal examination during first and second trimester. However, at 32 weeks of gestation, both obstetric growth scan and fetal echocardiogram revealed an enlarged heart with grid-like changes at the apical region. Eventually, the genetic and autopsy findings indicated the deceased infant with VNC. CONCLUSION: Isolated VNC could be detected prenatally, even during the late pregnancy. Fetuses suspected of VNC should be offered genetic tests.

The preventive effect of low-dose aspirin in a PPAR-γ antagonist treated mouse model of preeclampsia.

BACKGROUND: Preeclampsia (PE) is one of the leading causes of maternal and perinatal mortality and morbidity. Low-dose aspirin (LDA) is the most widely used drug to prevent PE, but the recommended dose of LDA varies according to different guidelines. Peroxisome proliferator-activated receptor (PPAR)-γ is involved in the formation of the placenta during pregnancy and is expressed in women with severe PE. In the present study, Our purpose was to investigate whether aspirin intervention in preeclampsia was related to PPAR-γ. METHODS: We administered pregnant mice with PPAR-γ-specific antagonist(T0070907) 2 mg/kg/d at 8.5-12.5 days of pregnancy. Mice treated with T0070907 developed key features of preeclampsia. Two doses of LDA (10 mg/kg/d and 20 mg/kg/d) were administered to the mice with a PE phenotype for intervention. RESULTS: LDA effectively decreased the increase in blood pressure in mice caused by T0070907 and decreased urinary protein levels and the urinary protein/creatinine ratio. LDA also inhibited the overexpression of endoglin and IL-ß treated by T0070907. In addition, LDA evidently increased the placental weight and alleviates the degree of placental lesions of placenta and kidney. LDA alleviated the inhibition of PPAR-γ mRNA expression. The beneficial effect of 20 mg LDA was significantly better than that of 10 mg. CONCLUSIONS: (1) LDA has a preventive effect against PE treated by PPAR-γ antagonist. (2) The preventive effect of LDA against PE is dose-dependent.

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.

BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. CASE PRESENTATION: A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vitro fertilization. Series of ultrasound examinations indicated that the measurements (abdominal circumference and estimated foetal weight) of one twin were significantly greater than those of the other one. The genetic testing results of the larger baby indicated of Simpson-Golabi-Behmel syndrome. CONCLUSION: SGBS is difficult to diagnose due to different clinical manifestations. Clinicians need to be more aware of typical SGBS's clinical findings and choose genetic testing methods individually to improve its prenatal diagnosis.

USP22 regulates the formation and function of placental vasculature during the development of fetal growth restriction.

INTRODUCTION: Fetal growth restriction (FGR) is a common obstetric complication that can lead to a variety of adverse perinatal outcomes and is associated with chronic diseases in adulthood. Since ubiquitin-specific protease 22 (USP22) is closely related to cell growth, differentiation and proliferation, we aimed to investigate the role of USP22 in FGR development. METHODS: USP22 expression was detected in the placentas of eight normal and eight pregnant women with FGR. To observe changes in the formation and function of placental vasculature, USP22 expression was downregulated in human umbilical vein endothelial cells (HUVECs) using CRISPR/Cas9 and siRNAs. In addition, HUVECs with low and normal USP22 expression were analysed using RNA-seq. RESULTS: We found that USP22 expression was significantly lower in the placentas of pregnant women with FGR than in normal pregnant women and that HUVECs were unable to survive after USP22 had been knocked out. Moreover, USP22 down-regulation in HUVECs led to decreased proliferation, angiogenesis, vasodilation, apoptosis, and systolic function. RNA-seq identified 3730 differentially expressed genes that were enriched in multiple signalling pathways, including cell cycle regulation, apoptotic signalling, and PI3K/Akt. DISCUSSION: Together, the findings of this study demonstrate for the first time that abnormal USP22 expression may affect HUVEC proliferation and apoptosis, as well as essential angiogenesis and vasomotor functions during the development of FGR.

[Research and Application of Quality Inspection Information System in Medical Device Manufacturers].

OBJECTIVE: To improve the production and inspection efficiency of medical device manufacturers, improve the quality system management level of manufacturers, and ensure the safety and effectiveness of medical devices. METHODS: Sort out the business process of the medical device manufacturer, connect the database of production and ERP system to inspection system, and build the operation software for the quality control department. RESULTS: The system has covered all the products of the manufacturer, and has realized the informatization and visualization of the inspection process. CONCLUSIONS: The research and application of the system can improve the quality management traceability system of medical device manufacturers, and improve the efficiency and accuracy of medical device quality inspection.

Comparison of the rates of preterm birth and low birth weight of vanishing twin and primary pregnancies conceived with assisted reproductive technology.

OBJECTIVES: The purpose of this study was to compare the rate of preterm birth, low birth weight, and foetal growth restriction in assisted reproductive technology (ART) singleton pregnancies diagnosed with vanishing twin (VT) syndrome to those of ART pregnancies that were originally singleton pregnancies. METHODS: In this retrospective study, 177 pregnancies diagnosed with VT syndrome were matched and compared with 218 primary singleton pregnancies. The preterm birth and low birth weight rates of these two groups were evaluated. All pregnancies were conceived through ART and delivered at Peking University First Hospital and Hebei Xingtai Infertility Hospital from 2014 to 2016. RESULTS: The preterm delivery rate (20.90 vs. 8.72%, p<0.05) was significantly higher in the ART singletons with VT syndrome than in the control singleton group. The proportion of low-birth-weight (<2500 g) infants was also higher in the VT group than in the primary singleton group (10.73 vs. 3.67%, p<0.05). In addition, the preterm birth rate of the naturally conceived singletons was significantly lower than that of the ART singletons (6.00 vs. 14.18%, p<0.05). CONCLUSIONS: ART singleton pregnancies with VT syndrome have higher rates of preterm birth and low-birth-weight new-borns than ART pregnancies that were originally singleton pregnancies.

Growth discordance of monoamniotic twin because of difference of cords diameter in forked umbilical cord: Case report.

A case of monochorionic-monoamniotic (MCMA) twin pregnancy with growth discordance because of difference of cord diameter in forked umbilical cord is reported.MCMA twins were diagnosed at 12 weeks of gestation and twin growth discordance was considered during the follow-up twice-weekly visits to the ultrasound and prenatal care units. The pregnancy was terminated at 34 weeks. Two live female babies weighing 2510 g and 1940 g were delivered. Examination of placenta and umbilical cords after birth showed that the 2 cords merged into a conjoint cord 1 cm from insertion to the placenta (forked umbilical cord). Placental color injection showed that the 2 fetuses shared the same placenta area. The diameters of the 2 cords were significantly different (1.5 vs 0.8 cm). This caused an unequal distribution of blood and nutrients, which is the real reason of twin growth discordance in this case.This case reveals that the diameter discordance of cords can be an important factor for twin growth discordance. Few relevant cases have previously been reported. Cords diameter measurement is suggested for ultrasound surveillance of twin growth discordance.

Serum A08 C1q antibodies are associated with disease activity and prognosis in Chinese patients with lupus nephritis.

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by overproduction of numerous autoantibodies. Many studies have sought to identify such biomarkers to distinguish patients with active lupus nephritis from SLE patients without renal involvement. Because antibodies to complement C1q appear to be prevalent in patients with active lupus nephritis, we analyzed the frequency of antigenic epitopes of C1q and their clinical significance in a large multicenter study of Chinese patients. The lupus cohort consisted of 210 patients with active lupus nephritis as a discovery cohort, 130 active patients as a validation cohort along with 130 SLE patients without clinical renal involvement, and 100 healthy controls. Serum antibodies to intact C1q, the collagen-like region, the globular head region, and the new linear A08 epitope to C1q were screened by specific ELISA. The frequency of antibodies to intact C1q, the C1q-collagen-like region, and the A08 antibodies in the discovery cohort were significantly higher than that in patients without renal involvement or healthy controls. Antibodies to the globular head region were not prevalent enough for further study. The results were confirmed in the validation cohort. The area under the curve for anti-A08 antibodies was significantly greater than those for both the intact and collagen-like region antibodies to discriminate between active lupus nephritis and active SLE without clinical renal involvement. The A08 antibodies were all negative at remission. The serum A08 antibody level correlated better with disease relapse than that of antibodies to either the intact or the collagen-like region, significantly predicting renal prognosis. Thus, serum levels of A08 C1q antibodies are closely associated with disease activity and prognosis in lupus nephritis.

Pentraxin 3 Is Closely Associated With Tubulointerstitial Injury in Lupus Nephritis: A Large Multicenter Cross-Sectional Study.

Lupus nephritis always elicits immune inflammatory tissue damages in kidney. Pentraxin 3 (PTX3), mainly produced at inflammatory sites, is known to be involved in the regulation of the innate immunity system. The aim of this study was to investigate the serum and urine levels of PTX3, and the expression of PTX3 in renal tissues in lupus nephritis patients from a large Chinese cohort.The study used cross-sectional survey and 288 active lupus nephritis patients, including discovery cohort and validation cohort, 115 systemic lupus erythematosus (SLE) patients without clinical renal involvement and 46 healthy controls were enrolled. Serum and urine PTX3 were screened by enzyme-linked immunosorbent assay (ELISA). The renal deposition of PTX3 was detected by immunohistochemistry and immunofluorescence.The average level of serum PTX3 in the discovery cohort of lupus nephritis was significantly higher than that in nonrenal involvement SLE group and normal controls (P < 0.001, P < 0.001, respectively), which was confirmed by the validation cohort. Serum PTX3 levels of 15 lupus nephritis patients in remission decreased significantly compared with that in active phase. Serum PTX3 levels were significantly higher in patients with hematuria (P = 0.014), leucocyturia (P = 0.002), acute renal failure (P = 0.001), and nephrotic syndrome (P = 0.036). There were significant correlations between serum PTX3 levels and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) scores, serum creatinine value, renal pathological activity indices, and serum complement 3 (C3) in active lupus nephritis patients. The urinary PTX3 levels were significantly higher in active lupus nephritis patients compared with patients in remission and normal controls (P = 0.011, P = 0.008, respectively). There were significant associations between urinary PTX3 levels and multiple indices of tubulointerstitial lesions, including urinary KIM-1 (r = 0.368, P = 0.016), neutrophil gelatinase-associated lipocalin (NGAL) (r = 0.320, P = 0.039), microalbumin (r = 0.621, P = 0.003), transferring (r = 0.451, P = 0.040) levels and renal pathological indices scores, especially interstitial inflammation (r = 0.349, P = 0.025) in active lupus nephritis patients. A significant correlation was found between serum and urine PTX3 levels (r = 0.431, P = 0.006). PTX3 staining was mainly observed in tubulointerstitial areas of patients with lupus nephritis, and immunofluorescence study showed that PTX3 could colocalize with fibroblast in interstitium.Circulating and local PTX3 levels were significantly increased in patients with active lupus nephritis and might be a biomarker for the disease progression, especially of tubulointerstitial injury.