Building a trustworthy AI differential diagnosis application for Crohn's disease and intestinal tuberculosis.

Background: Differentiating between Crohn's disease (CD) and intestinal tuberculosis (ITB) with endoscopy is challenging. We aim to perform more accurate endoscopic diagnosis between CD and ITB by building a trustworthy AI differential diagnosis application.

Methods: A total of 1271 electronic health record (EHR) patients who had undergone colonoscopies at Peking Union Medical College Hospital (PUMCH) and were clinically diagnosed with CD (n = 875) or ITB (n = 396) were used in this study.

Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.

Pathogenic large inversions are rarely reported on DMD gene due to the lack of effective detection methods. Here we report two DMD pedigrees and proposed a reliable pipeline to define large inversions in DMD patients. In the first pedigree, conventional approaches including multiplex ligation-dependent probe amplification, and whole-exome sequencing by next generation sequencing were failed to detect any pathologic variant.

Corrigendum: Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the Gene Based on Long-Read Sequencing.

[This corrects the article DOI: 10.3389/fgene.2021.

Sequence and Structure Characteristics of 22 Deletion Breakpoints in Intron 44 of the Gene Based on Long-Read Sequencing.

Exon deletions make up to 80% of mutations in the DMD gene, which cause Duchenne and Becker muscular dystrophy. Exon 45-55 regions were reported as deletion hotspots and intron 44 harbored more than 25% of deletion start points. We aimed to investigate the fine structures of breakpoints in intron 44 to find potential mechanisms of large deletions in intron 44.

Effects of oncolytic viruses and viral vectors on immunity in glioblastoma.

Glioblastoma (GBM) is regarded as an incurable disease due to its poor prognosis and limited treatment options. Virotherapies were once utilized on cancers for their oncolytic effects. And they are being revived on GBM treatment, as accumulating evidence presents the immunogenic effects of virotherapies in remodeling immunosuppressive GBM microenvironment.

A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in . A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrophinopathy database using the National Rare Diseases Registry System of China.

Can natural language processing help differentiate inflammatory intestinal diseases in China? Models applying random forest and convolutional neural network approaches.

Background: Differentiating between ulcerative colitis (UC), Crohn's disease (CD) and intestinal tuberculosis (ITB) using endoscopy is challenging. We aimed to realize automatic differential diagnosis among these diseases through machine learning algorithms.

Methods: A total of 6399 consecutive patients (5128 UC, 875 CD and 396 ITB) who had undergone colonoscopy examinations in the Peking Union Medical College Hospital from January 2008 to November 2018 were enrolled.

The mediated role of complement C3 in PM exposure and type 2 diabetes mellitus: an elderly panel study in Beijing, China.

Diabetes mellitus (DM) is a common chronic disease worldwide. Ambient air pollution has long been proven to be associated with type 2 diabetes mellitus (T2DM) progression, but the underlying mechanism is not clear yet. In addition, previous studies mainly focused on the prevention of healthy people against the incidence of T2DM.

The Effect of Liposuction Cannula Diameter on Fat Retention-Based on a Rheological Simulation.

Background: Autologous fat is considered as an ideal material for soft-tissue augmentation in plastic and reconstructive surgery. The primary drawback of autologous fat grafting is the high absorption rate, thus fat retention is considered as an essential indicator. There are several researches about the factors that can influence fat retention, including centrifugation and cannula size.