Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.

Purpose: Rare genetic variants in the PURA gene cause the PURA-related neurodevelopmental disorder (PURA-NDD), characterized by neonatal abnormalities and developmental delay. Using genome-wide DNA methylation analysis on patients with PURA variants, we aim to establish a PURA-NDD-specific methylation profile and provide further insights on the molecular basis of the PURA-NDD.

Methods: Twenty three individuals (including 12 unpublished) carrying PURA variants were enrolled.

ITRAQ-based proteomics analysis of human ectopic endometrial stromal cells treated by Maqian essential oil.

Background: Endometriosis is a common and complex syndrome characterized by the presence of endometrial-like tissue outside the uterus. Chinese medicine has been recently found to show good efficacy in treating endometriosis. Our previous results revealed that Maqian fruit essential oil (MQEO) could inhibit the proliferation and induce apoptosis of ectopic endometrial stromal cells (EESCs), but the mechanisms remain unclear.

Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China.

Purpose: To evaluate the noninvasive prenatal testing (NIPT) results of 36,913 cases in Jiangxi province of central China and explore its application value in prenatal screening and diagnosis.

Methods: This retrospective analysis included 36,913 singleton pregnant women who underwent NIPT because of moderate-/high-risk pregnancy or voluntary requirements between January 2017 and December 2019 in our hospital. Chromosomal abnormalities such as trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs) were judged by standard Z-score analysis.

Quantitative HBcrAg and HBcAb versus HBsAg and HBV DNA in predicting liver fibrosis levels of chronic hepatitis B patients.

Objective: To evaluate the performance of the quantitative markers of hepatitis B core-related antigen (HBcrAg) and anti-hepatitis B core antigen antibodies HbcAb versus hepatitis B surface antigen (HBsAg) and hepatitis B virus DNA (HBV DNA) in predicting liver fibrosis levels in chronic hepatitis B patients.

Methods: Two hundred and fifty hepatitis B e antigen (HBeAg)-positive and 245 HBeAg-negative patients were enrolled. With reference to the Scheuer standard, stage 2 or higher and stage 4 liver disease were defined as significant fibrosis and cirrhosis, respectively.

[The Effects of Social Support and Health Literacy on Depression among Rural Patients with Hypertension].

Objective: To explore the effects of social support and health literacy on depression among hypertensive patients in rural areas and to provide reference for improving depression in hypertensive patients.

Methods: A multi-stage stratified sampling method was used to select 549 hypertensive patients in a rural area of Chengdu city for a questionnaire survey. Structural equation model was used to analyze the effects of social support and health literacy on depression in hypertensive patients.

Quantitative Anti-HBc in Liver Pathological States in Patients with Chronic Hepatitis B Virus Infection.

Background: Changes of hepatitis B core antigen antibody (anti-HBc) in liver pathological involvement in patients with chronic hepatitis B virus (HBV) infection have not been investigated in detail. This study aimed to explore evolving patterns of anti-HBc following liver pathological states and to investigate validities of anti-HBc for predicting liver pathological states.

Methods: 254 HBeAg-positive and 237 HBeAg-negative patients with chronic HBV infection were enrolled.

The number of stents was an independent risk of stent restenosis in patients undergoing percutaneous coronary intervention.

Percutaneous coronary intervention (PCI) is one of the most effective therapies for coronary artery disease, but stent restenosis remains an important clinical challenge. The studies about the independent effect of the number of stents on stent restenosis were limited.The purpose was to identify the independent effect of the number of stents on stent restenosis.

Exosomes derived from mesenchymal stem cells inhibit mitochondrial dysfunction-induced apoptosis of chondrocytes via p38, ERK, and Akt pathways.

Osteoarthritis (OA) is the most common chronic joint disease worldwide. Chondrocyte, as the only resident cell type in cartilage, its apoptosis is of pathogenetic significance in OA. Mesenchymal stem cell (MSC)-based-therapy has been proved effective in OA in animals and clinical studies.

Performance of Hepatitis B Core-Related Antigen Versus Hepatitis B Surface Antigen and Hepatitis B Virus DNA in Predicting HBeAg-positive and HBeAg-negative Chronic Hepatitis.

Background: We examined changes in hepatitis B core-related antigen (HBcrAg) during the four sequential phases of chronic hepatitis B virus (HBV) infection: hepatitis B e antigen (HBeAg)-positive chronic infection (EPCI) and hepatitis (EPCH), followed by HBeAg-negative chronic infection (ENCI) and hepatitis (ENCH). We compared the performance of serum HBcrAg, hepatitis B surface antigen (HBsAg), and HBV DNA in predicting EPCH and ENCH.

Methods: We enrolled 492 consecutive patients: 49 with EPCI, 243 with EPCH, 101 with ENCI, and 99 with ENCH.

[Equivalence of SF-12v2 and SF-36v2 in Assessing Health Related Quality of Life in a General Population in Chengdu].

Objective: To determine the equivalence of SF-12v2 and SF-36v2 for assessing health related quality of life in a general population in Chengdu.

Methods: The equivalence between SF-12v2 and SF-36v2 was assessed using reliability,validity and responsiveness.

Results: The eight sub-scales of SF-36v2 had a score ranging from 64.

[Medical Service Information Seeking Behaviors in Rural and Urban Patients in Sichuan Province].

Objective: To understand how rural and urban patients seek medical service information in Sichuan province.

Methods: A self-designed questionnaire was distributed randomly to patients who visited primary,secondary and tertiary health facilities in Chengdu,Yibin and Suining,collecting data in relation to their sources of medical service information,as well as the contents and credibility of the information.

Results: The major sources of medical service information came from friends,past experiences and television programs,which were consistent with the most desirable access channels.

[Perceptions and Attitudes of Chengdu Residents toward "Medical and Aged Care" Integrated Models].

Objectives: To investigate the perceptions and attitudes of Chengdu residents toward "medical and aged care" integrated models and associated factors.

Methods: A cross-sectional questionnaire survey was conducted in 935 residents who were 45 years or older in 8 communities in Chengdu. Descriptive analyses and logistic binary regression analyses were performed.

Biocompatibility and in vivo osteogenic capability of novel bone tissue engineering scaffold A-W-MGC/CS.

Background: This study aims to investigate the biocompatibility and in vivo osteogenic capability of the novel bone tissue engineering scaffold apatite-wollastonite-magnetic glass ceramic/chitosan (A-W-MGC/CS).

Methods: Rabbit bone marrow stromal cells (BMSCs) were transfected with adenovirus-human bone morphogenetic protein-2-green fluorescent protein (Ad-hBMP2-GFP). The transfected BMSCs were then inoculated onto the scaffold material A-W-MGC/CS to construct tissue-engineered bone.

[Assessing quality of life in an urban population in Chengdu using the SF-12].

Objective: To assess the health-related quality of life in an urban population in Chengdu China using the SF-12.

Methods: A random sampling strategy stratified by age and sex was adopted to select the participants in Chengdu. A total of 1365 respondents with an age of older than 18 years completed the interviewer-administered SF-12 survey.

[Quantitative assessment of risks on cerebral vascular diseases in urban residents in Sichuan].

Objective: To set a quantitative criteria for determining the risks on cerebral vascular disease (CVD) so to identify that potential risk of an individual dying from CVD and to predict the individual risk of CVD.

Methods: Data on case-control and cohort studies published during 1978 to 2003 was collected through retrieval of literatures, and data on surveillance of behavior exposure was provided by Chengdu Municipal Center for Disease Control and Prevention. Pooled odds ratio (OR) and relative risk (RR) of all risk factors for CVD were estimated using software for meta-analysis to enable the varied levels of risk factors be converted into risk fractions by statistical models.