High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

Background: Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood.

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Prenatal diagnosis of fetal short long bones (SLBs) was reported to be associated with skeletal dysplasias, chromosomal abnormalities, and genetic syndromes. This study aims to identify the genetic causes for fetal short long bones, and retrospectively evaluate the additional diagnostic yield of exome sequencing (ES) for short long bones following the use of conventional genetic testing. A cohort of ninety-four fetuses with sonographically identified short long bones was analyzed by trio-exome sequencing between January 2016 and June 2021.

A novel non-sense variant in the OFD1 gene caused Joubert syndrome.

Joubert syndrome (JBS) is a rare neurodevelopmental disorder associated with progressive renal, liver, and retinal involvement that exhibits heterogeneity in both clinical manifestations and genetic etiology. Therefore, it is difficult to make a definite prenatal diagnosis. Whole-exome sequencing and Sanger sequencing were performed to screen the causative gene variants in a suspected JBS family.

Next-generation sequencing facilitates genetic diagnosis and improves the management of patients with hearing loss in clinical practice.

Background: Hearing loss (HL) is a prevalent sensorineural disorder, and is among the most etiologically heterogeneous disorders. With the advent of next-generation sequencing (NGS) technologies, hundreds of candidate genes can be analyzed simultaneously in a cost-effective manner.

Methods: Ninety-four patients from 87 families diagnosed with non-syndromic or syndromic HL were enrolled.

A Novel Multi-Exon Deletion of in a Three-Generation Pedigree: Supplements to Neurodevelopmental Disorder Spectrum.

neurodevelopmental disorder (-NDD) is a category of rare disorder characterized by intellectual disability, speech delay, dysmorphic facial features, and developmental delay. Other various physical abnormalities of -NDD might involve all organs and systems. Notably, there were only two unique missense mutations [c.

Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene.

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly, severe mental retardation, spasticity, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype.

Early secreted antigenic target 6-kDa from Mycobacterium tuberculosis enhanced the protective innate immunity of macrophages partially via HIF1α.

Early secreted antigenic target 6-kDa protein (ESAT6) is an essential virulence factor of Mycobacterium tuberculosis (MTb). However, ESAT6 helped fighting MTb infection according to vaccine studies. It's unclear whether ESAT6 confers protection via enhancing the innate immunity of macrophages, which are the first-line defense against MTb.

Diagnostic performance of plasma cytokine biosignature combination and MCP-1 as individual biomarkers for differentiating stages Mycobacterium tuberculosis infection.

Objective: We aimed to identify plasma cytokine biomarkers that differentiate the infection stages of Mycobacterium tuberculosis (MTB).

Methods: This study included a total of 227 subjects consisting of active tuberculosis (ATB) patients, latent tuberculosis infection (LTBI) individuals, and healthy controls (HC). We analyzed the expressions of 38 plasma cytokines in the discovery cohort to identify the biosignatures for differentiating MTB infection states, area under the curve (AUC) were used to evaluate the diagnostic efficiency.

Early secreted antigen ESAT-6 of Mycobacterium Tuberculosis promotes apoptosis of macrophages via targeting the microRNA155-SOCS1 interaction.

Background: The early secreted antigenic target 6-kDa protein (ESAT-6) of Mycobacterium tuberculosis (Mtb) not only acts as a key player for virulence but also exhibits a strong immunotherapeutic potential against Mtb. However, little is known about the molecular basis for its potential in immunotherapy. The present study was designed to unravel the role of miRNA-155 in ESAT-6-mediated enhancement of host immunity and apoptosis in macrophages.

Label-free and high-sensitive detection of human breast cancer cells by aptamer-based leaky surface acoustic wave biosensor array.

A label-free and high-sensitive sensing technology for tumor cell recognition and detection was developed based on a novel 2 × 3 model of leaky surface acoustic wave (LSAW) aptasensor array. In this methodology, every resonator crystal unit of the LSAW aptasensor array had an individual oscillator circuit to work without mutual interference, and could oscillate independently with the phase shift stability of ± 0.15° in air phase and ± 0.

Rapid detection of hepatitis B virus variants associated with lamivudine and adefovir resistance by multiplex ligation-dependent probe amplification combined with real-time PCR.

Drug-resistant mutations of hepatitis B virus (HBV) are the major obstacles to successful therapy for chronic hepatitis B infection. Although there are many methods for detecting the antiviral drug-resistant mutations of HBV, their applications are restricted because of their shortcomings, such as low sensitivity, the time required, and the high cost. For this study, a multiplex ligation-dependent probe real-time PCR (MLP-RT-PCR) method was developed to simultaneously detect lamivudine (LAM)- and adefovir (ADV)-resistant HBV mutants (those with the mutations rtM204V/I, rtA181V/T, and rtN236T).

Development and validation of a novel leaky surface acoustic wave immunosensor array for label-free and high-sensitive detection of cyclosporin A in whole-blood samples.

This manuscript described a novel 2×3 model of leaky surface acoustic wave (LSAW) immunosensor array for label-free and high-sensitive detection of Cyclosporin A (CsA) in whole-blood samples. In this technique, every resonator crystal unit of the LSAW immunosensor array had an individual oscillator circuit to work without mutual interference. The LSAW immunosensor was first immobilized with protein A from Staphylococcus aureus and monoclonal anti-CsA antibody on the gold electrode surface of 100 MHz LiTaO3 piezoelectric crystals, which then captured the CsA.

Association between CD209 -336A/G and -871A/G polymorphisms and susceptibility of tuberculosis: a meta-analysis.

Background: The association between CD209 promoter polymorphisms (-336A/G, -871A/G) and tuberculosis (TB) risk has been widely reported, but results of previous studies remain controversial and ambiguous. To assess the association between CD209 polymorphisms and TB risk, a meta-analysis was performed.

Methods: Based on comprehensive searches of the PubMed, Embase, Web of Science, Weipu, and CBM databases, we identified outcome data from all articles estimating the association between CD209 polymorphisms and TB risk.

Does risk for ovarian malignancy algorithm excel human epididymis protein 4 and CA125 in predicting epithelial ovarian cancer: a meta-analysis.

Backgrounds: Risk for Ovarian Malignancy Algorithm (ROMA) and Human epididymis protein 4 (HE4) appear to be promising predictors for epithelial ovarian cancer (EOC), however, conflicting results exist in the diagnostic performance comparison among ROMA, HE4 and CA125.

Methods: Remote databases (MEDLINE/PUBMED, EMBASE, Web of Science, Google Scholar, the Cochrane Library and ClinicalTrials.gov) and full texts bibliography were searched for relevant abstracts.

Rapid urinary trypsinogen-2 test in the early diagnosis of acute pancreatitis: a meta-analysis.

Objectives: Urinary trypsinogen-2 has been implicated as a promising biomarker for the early diagnosis of acute pancreatitis (AP). The meta-analysis was used to establish the overall accuracy of urinary trypsinogen-2 test for diagnosing AP.

Methods: Based on comprehensive searches of the PubMed and Embase databases, we identified and abstracted outcome data from all articles evaluating the diagnostic value of urinary trypsinogen-2.

Rapid and effective diagnosis of tuberculosis and rifampicin resistance with Xpert MTB/RIF assay: a meta-analysis.

Objectives: Xpert MTB/RIF (Cepheid) assay has been introduced for the diagnosis of tuberculosis (TB) and RIF-resistance. The meta-analysis was used to establish the overall accuracy of Xpert MTB/RIF assay for diagnosing TB and RIF-resistance.

Methods: Based on comprehensive searches of the Pubmed and Embase, we identified outcome data from all articles estimating diagnostic accuracy with Xpert MTB/RIF assay.

Detection of single-nucleotide polymorphisms with novel leaky surface acoustic wave biosensors, DNA ligation and enzymatic signal amplification.

This manuscript describes a new technique for detecting single-nucleotide polymorphisms (SNPs) by integrating a leaky surface acoustic wave (LSAW) biosensor, enzymatic DNA ligation and enzymatic signal amplification. In this technique, the DNA target is hybridized with a capture probe immobilized on the surface of a LSAW biosensor. Then, the hybridized sequence is ligated to biotinylated allele-specific detection probe using Taq DNA ligase.