Data-driven approaches have achieved great success in various medical image analysis tasks. However, fully-supervised data-driven approaches require unprecedentedly large amounts of labeled data and often suffer from poor generalization to unseen new data due to domain shifts. Various unsupervised domain adaptation (UDA) methods have been actively explored to solve these problems.
View Article and Find Full Text PDFObjective: To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+0.
Methods: A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus.
Invest Radiol
December 2023
Hemophilia A (HA, OMIM#306700) is an X-linked recessive bleeding disorder caused by the defects in the gene, which encodes coagulation factor VIII (FVIII). Intron 22 inversion (Inv22) is found in about 45% of patients with severe hemophilia A. Here, we reported a male without obvious hemophilia A phenotype but bearing an inherited segmental variant duplication encompassing as well as Inv22.
View Article and Find Full Text PDFAbout 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital.
View Article and Find Full Text PDFAt present, low-pass whole-genome sequencing (WGS) is frequently used in clinical research and in the screening of copy number variations (CNVs). However, there are still some challenges in the detection of triploids. Restriction site-associated DNA sequencing (RAD-Seq) technology is a reduced-representation genome sequencing technology developed based on next-generation sequencing.
View Article and Find Full Text PDFthe pathogen that causes tuberculosis, exhibits complex host-pathogen interactions. Pattern recognition receptors and their downstream signaling pathways play crucial roles in determining the outcome of infection. In particular, the scaffold protein β-arrestin 2 mediates downstream signaling of G protein-coupled receptors.
View Article and Find Full Text PDFAim: White tip silver needle, a slightly fermented white tea, is abundant in flavonoids, and it has great significance in terms of D-galactose/lipopolysaccharide-induced aging in mice.
Methods: We analyzed the antioxidant capacity of white tip silver needle flavonoids (WTSNF) in vitro, assessed the effects of WTSNF on organ indexes, pathological changes, liver function indexes, biochemical indicators, molecular biological indicators, and genes related to oxidation and inflammation.
Results: Ultra-high performance liquid chromatography-tandem mass spectrometry results showed that WTSNF contained baicalin, kaempferol, kaempferide, quercetin, isorhamnetin, lespenephryl, and rutin.
Background: In order to mitigate the risk of allele dropout (ADO) and ensure the accuracy of preimplantation genetic testing for monogenic disease (PGT-M), it is necessary to construct parental haplotypes. Typically, haplotype resolution is obtained by genotyping multiple polymorphic markers in both parents and a proband or a relative. Sometimes, single sperm typing, or tests on the polar bodies may also be useful.
View Article and Find Full Text PDFInt J Antimicrob Agents
March 2020
Introduction: Heteroresistance to antibiotic agents can lead to diagnostic and therapeutic failures; however, to date, cefepime heteroresistance (FEP-HR) in Pseudomonas aeruginosa (P. aeruginosa) bacteraemia has not been characterised. The primary goal of this study was to investigate the molecular epidemiology, mechanisms and risk factors for cefepime-heteroresistant P.
View Article and Find Full Text PDFCarbapenem-resistant (CRE) has been considered a serious global threat, but carbapenem resistance remains relatively uncommon in , especially in China. The aim of this study was to characterize carbapenem-resistant (CR-ECL) isolates from 2012 to 2016 in Southwest China. Our study revealed that 20 (15.
View Article and Find Full Text PDFCandida albicans is the leading cause of healthcare associated bloodstream infections. Chemokine CXCL13 is well-known involved in inflammation, but its role in candidemia has not been assessed. Our study firstly demonstrated that serum CXCL13 levels were significantly elevated in candidemic patients compared with bacteremic patients and control subjects by ELISA, and CXCL13 concentrations were positively and significantly correlated with clinical Sequential Organ Failure Assessment (SOFA) scores and several laboratory parameters in patients.
View Article and Find Full Text PDFInt J Antimicrob Agents
March 2018
Heteroresistance is common in a variety of microbes, however carbapenem heteroresistance among invasive Pseudomonas aeruginosa infections has not been thoroughly characterised to date. The objective of this study was to investigate the mechanisms, molecular epidemiology and risk factors for invasive carbapenem-heteroresistant P. aeruginosa (CHPA) infections between 2011 and 2015 in Chongqing, China.
View Article and Find Full Text PDFMycobacterium tuberculosis (M.tb), which causes tuberculosis, is a host-adapted intracellular pathogen that can live within macrophages owning to its ability to arrest phagolysosome biogenesis. The guanine nucleotide exchange factor H1 (GEF-H1) may contribute to the phagocytosis of bacteria by macrophages through mediating the crosstalk between microtubules and the actin cytoskeleton.
View Article and Find Full Text PDFMacrophages play a crucial role in the control and elimination of invading Mycobacterium tuberculosis (Mtb), and also serve as the major residence for Mtb. However, the interaction between macrophages and Mtb remains to be clearly determined. Although long noncoding RNAs (lncRNAs) have emerged as key regulators in many biological processes, their roles in anti-mycobacterial responses of macrophages remain to be elucidated.
View Article and Find Full Text PDFTuberculosis is still the widest spread infectious disease in the world, and more in-depth studies are needed on the interaction between the pathogen and the host. Due to the highest lipid components in Mycobacterium tuberculosis, the CD1 family that specifically presents antigenic lipids plays important roles in the antituberculosis immunity, especially CD1c, which functions as the intracellular Ag inspector at the full intracellular range. However, downregulation of the CD1c mRNA level has been observed in M.
View Article and Find Full Text PDFNew vaccines are needed to combat Mycobacterium tuberculosis (MTB) infections. The currently employed Bacillus Calmette-Guérin vaccine is becoming ineffective, due in part to the emergence of multidrug-resistant tuberculosis (MDR-TB) strains and the reduced immune capacity in cases of HIV coinfection. CD8(+) T cells play an important role in the protective immunity against MTB infections, and the identification of immunogenic CD8(+) T cell epitopes specific for MTB is essential for the design of peptide-based vaccines.
View Article and Find Full Text PDFThe aim of this study was to establish plasma cytokine/chemokine profiles in patients with 3 different presentations of active tuberculosis (TB), compared to the profiles observed in bacillus Calmette-Guérin (BCG)-vaccinated healthy individuals and patients with other pulmonary diseases (non-TB patients). To this end, plasma samples were collected from 151 TB patients including 68 pulmonary TB (PTB), 43 endobronchial TB, and 40 tuberculosis pleurisy (TP) patients, as well as 107 no-TB cases including 26 non-TB patients and 81 BCG-vaccinated healthy controls. A liquid array-based multiplexed immunoassay was used to screen plasma samples for 20 distinct cytokines and chemokines.
View Article and Find Full Text PDFBackground: Potent antitumor responses can be induced through cytokine immunotherapy. Interleukin (IL)-2 and granulocyte-macrophage colony-stimulating factor (GM-CSF) are among the most effective cytokines to induce tumor-specific systemic immune responses and can act synergistically. To overcome the limitations of combined use of these two cytokines, we have constructed an IL2-GMCSF fusion protein and characterized its antitumor effects in this study.
View Article and Find Full Text PDFIn the present report, estimates of test-retest and between-site reliability of fMRI assessments were produced in the context of a multicenter fMRI reliability study (FBIRN Phase 1, www.nbirn.net).
View Article and Find Full Text PDFThis paper presents a new image registration algorithm that accommodates locally large nonlinear deformations. The algorithm concurrently estimates the forward and reverse transformations between a pair of images while minimizing the inverse consistency error between the transformations. It assumes that the two images to be registered contain topologically similar objects and were collected using the same imaging modality.
View Article and Find Full Text PDFRationale And Objectives: This article presents a new method for measuring the shape of the cochlea, vestibule, semi-circular canals, and internal auditory canal using image registration and a deformable inner ear atlas.
Materials And Methods: Computed tomography images of the inner ear are analyzed by placing them into a common orientation and then registering a digital atlas of the inner ear to the data set. The atlas is deformed from its original shape to match the shape of the inner ear in the computed tomography data set using inverse consistent elastic image registration.