Analysis of Echocardiography and Risk Factors Related to Prognosis in Adult Patients with Isolated Congenitally Corrected Transposition of the Great Arteries.

This study sought to echocardiographic manifestations and the related risk factors affecting the prognosis of isolated congenitally corrected transposition of the great arteries (CCTGA). A total of 143 patients (≥18 years of age) were diagnosed with isolated CCTGA at Anzhen Hospital. The patients were classified as the operation group and the non-operation group depending on whether they had undergone tricuspid valve surgery.

Mid-level data fusion strategy based on urinary nucleosides SERS spectra and blood CEA levels for enhanced preoperative detection of lymph node metastasis in colorectal cancer.

Background: Preoperative prediction of lymph node metastasis (LNM) plays a crucial role in the treatment and prognosis of colorectal cancer (CRC). The traditional histopathological examination is invasive and time-consuming, providing pathological features only postoperatively. Preoperative serum carcinoembryonic antigen (CEA) is strongly correlated with postoperative LN status.

[Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome].

Objective: To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.

Methods: Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected.

Association between placental DNA methylation and fetal congenital heart disease.

Congenital heart disease (CHD) is a worldwide problem with high morbidity and mortality. Early diagnosis of congenital heart disease is still a challenge in clinical work. In recent years, few studies indicated that placental methylation may be predictors of CHD.

Bibliometric Analysis of Health Technology Research: 1990~2020.

This paper aims to summarize the publishing trends, current status, research topics, and frontier evolution trends of health technology between 1990 and 2020 through various bibliometric analysis methods. In total, 6663 articles retrieved from the Web of Science core database were analyzed by Vosviewer and CiteSpace software. This paper found that: (1) The number of publications in the field of health technology increased exponentially; (2) there is no stable core group of authors in this research field, and the influence of the publishing institutions and journals in China is insufficient compared with those in Europe and the United States; (3) there are 21 core research topics in the field of health technology research, and these research topics can be divided into four classes: hot spots, potential hot spots, margin topics, and mature topics.

Placental DNA Methylation Abnormalities in Prenatal Conotruncal Heart Defects.

This study aims to characterize the abnormal changes in placental DNA methylation associated with conotruncal heart defects (CTDs) and the level of methylation as epigenetic biomarkers for CTDs detection. This was a prospective study involving 28 fetuses diagnosed with CTDs in the second trimester at Beijing Anzhen Hospital between September 2020 and June 2021. These cases were classified into four groups based on their subtypes.

Simultaneous Segmentation of Four Cardiac Chambers in Fetal Echocardiography.

Accurate segmentation of cardiac chambers is helpful for the diagnosis of Congenital Heart Disease (CHD) in fetal echocardiography. Previous studies mainly focused on single cardiac chamber segmentation, which cannot provide sufficient information for the cardiologists. In this paper, we present an instance segmentation approach capable of segmenting four cardiac chambers accurately and simultaneously.

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Background: Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%-15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by panel sequencing or multiplex ligation-dependent probe amplification (MLPA).

Methods: We analyzed eight fetuses with CR and their families.

Analysis of ascending aortic diameter and long-term prognosis in patients with ascending aortic dissection.

Objectives: This study was designed to review the ascending aortic diameter of patients undergoing surgery for AAD in China and its influence on prognosis.

Methods: In the period between January 2018 and January 2020, 265 patients eligible for analysis of ascending aorta were included in this study. The maximum diameter of the ascending aorta was assessed using preoperative computed tomography (CT) scan for patients.

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome.

Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-gene splicing assay to demonstrate the predicted harmful effects of an intronic variant of FBN-1.

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.

Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In the present study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation between FBNI gene mutation and MFS.

Timing, distribution, and microbiology of infectious complications after necrotizing pancreatitis.

Background: Acute pancreatitis (AP) is a common acute abdominal disease worldwide, and its incidence rate has increased annually. Approximately 20% of AP patients develop into necrotizing pancreatitis (NP), and 40% to 70% of NP patients have infectious complications, which usually indicate a worse prognosis. Infection is an important sign of complications in NP patients.

The effect of technical details of percutaneous catheter drainage on the clinical outcomes of infected necrotizing pancreatitis patients.

Background/aim: This study aimed to investigate the effect of technical details of percutaneous catheter drainage (PCD) on the clinical outcomes of patients with infected necrotizing pancreatitis (INP).

Materials And Methods: A total of 44 INP patients treated in our hospital from October 2013 to October 2015 were included. The correlations of the first PCD treatment data and the clinical outcomes were analyzed.

A meta-analysis and systematic review of percutaneous catheter drainage in treating infected pancreatitis necrosis.

Background: In the current meta-analysis, we focus on the exploration of percutaneous catheter drainage (PCD) in terms of its overall safety as well as efficacy in the treatment of infected pancreatitis necrosis based on qualified studies.

Methods: The following electronic databases were searched to identify eligible studies through the use of index words updated to May 2018: PubMed, Cochrane, and Embase. Relative risk (RR) or mean difference (MD) along with 95% confidence interval (95% CI) were utilized for the main outcomes.