Nomogram Model for Prediction of SARS-CoV-2 Breakthrough Infection in Fujian: A Case-Control Real-World Study.

SARS-CoV-2 breakthrough infections have been reported because of the reduced efficacy of vaccines against the emerging variants globally. However, an accurate model to predict SARS-CoV-2 breakthrough infection is still lacking. In this retrospective study, 6,189 vaccinated individuals, consisting of SARS-CoV-2 test-positive cases (n = 219) and test-negative controls (n = 5970) during the outbreak of the Delta variant in September 2021 in Xiamen and Putian cities, Fujian province of China, were included.

A national proficiency scheme for human leucocyte antigen typing by next-generation sequencing.

Background: Accurate human leucocyte antigen (HLA) typing is essential for solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). Next-generation sequencing (NGS) is increasingly adopted by clinical laboratories performing HLA typing. To ensure reliable NGS-based HLA typing throughout China, a HLA-NGS proficiency testing (PT) scheme was set up.

Two Novel Intronic Mutations in the Gene in Two Families With CSF1R-Microglial Encephalopathy.

To describe two novel heterozygous splicing variants of the gene responsible for CSF1R-microglial encephalopathy in two unrelated Han Chinese families and further explore the relationship between the pathological and neuroimaging findings in this disease. The demographic data, detailed medical history, and clinical manifestations of two unrelated Han families with CSF1R-microglial encephalopathy were recorded. Some family members also underwent detailed neuropsychological evaluation, neuroimaging, and genetic testing.

Continual Improvement of the Reliability of Next-Generation Sequencing-Based ctDNA Analysis: A Long-Term Comparison of ctDNA Detection in China.

Background: Since circulating tumor DNA (ctDNA) sequencing is increasingly being applied in clinical management of patients with cancer, its testing accuracy has become a matter of serious concern. To address this issue, a long-term ctDNA analysis proficiency testing (PT) scheme for next-generation sequencing (NGS) was launched in China in 2018, serving as an educational tool for assessing and improving the testing quality of NGS-based ctDNA detection.

Methods: Feedback from participating laboratories across 23 different PT samples containing different variants with varying variant allele frequency was collected between 2018 and 2021.

Comparison of four different immunoassays and a rapid isotope-dilution liquid chromatography-tandem mass spectrometry assay for serum folate.

Objectives: Accurate measurement of serum folate is essential for the diagnosis and management of various disorders. This study aims to investigate the between-method differences of four immunoassays and a rapid isotope-dilution liquid chromatography-tandem mass spectrometry (ID-LC-MS/MS) method.

Methods: Roche Cobas (USA), Abbott Alinity i2000 (USA), Beckman Coulter Access (USA), Mindray CL-6000i (China), and the ID-LC-MS/MS method were compared using 46 human serum samples.

Asporin Interacts With HER2 to Promote Thyroid Cancer Metastasis the MAPK/EMT Signaling Pathway.

Approximately 85% of histological subtypes of thyroid cancer are papillary thyroid cancer (PTC), and the morbidity and mortality of PTC patients rapidly increased due to lymph node metastases or distant metastasis. Therefore, it needs to distill an enhanced understanding of the pathogenesis of PTC patients with lymph node metastases or distant metastasis. We employed the TMT-based quantitative proteomics approach to identify and analyze differentially expressed proteins in PTC with different degrees of lymph node metastases.

Analysis of current status of quantitative detection of biomarkers for liver fibrosis in Clinical labs in China.

Aim: To explore the quality control and implementation of the quantitative detection of liver fibrosis biomarkers, laminin (LN), collagen IV (Col Ⅳ), procollagen III amino-terminal propeptide (PⅢNP), hyaluronic acid (HA), and cholyglycine (CG), in China.

Methods: Two quality control products were measured in different laboratories using different measurement methods and reagents, and the acquired results were subjected to analysis. The quantitative detection technique was based on the conventional assessment criteria, with a target value ±30% being employed.

Development of a Novel Reference Material for Tumor Mutational Burden Measurement Based on CRISPR/Cas9 Technology.

As a biomarker that affects treatment decisions of immune checkpoint inhibitors, the accuracy, reliability, and comparability of tumor mutational burden (TMB) estimation is of paramount importance. To improve the consistency and reliability of these tests, qualified reference materials providing ground-truth data are crucial. In this study, we developed a set of formalin-fixed and paraffin-embedded (FFPE) samples with different TMB values as the novel reference materials for TMB estimation.

Multilaboratory assessment of metagenomic next-generation sequencing for unbiased microbe detection.

Introduction: Metagenomic next-generation sequencing (mNGS) assay for detecting infectious agents is now in the stage of being translated into clinical practice. With no approved approaches or guidelines available, laboratories adopt customized mNGS assays to detect clinical samples. However, the accuracy, reliability, and problems of these routinely implemented assays are not clear.

Metagenomics next-generation sequencing tests take the stage in the diagnosis of lower respiratory tract infections.

Metagenomic next-generation sequencing (mNGS) has changed the diagnosis landscape of lower respiratory tract infections (LRIs). With the development of newer sequencing assays, it is now possible to assess all microorganisms in a sample using a single mNGS analysis. The applications of mNGS for LRIs span a wide range of areas including LRI diagnosis, airway microbiome analyses, human host response analyses, and prediction of drug resistance.

Design, optimization, and application of multiplex rRT-PCR in the detection of respiratory viruses.

Viral respiratory infections are common and serious diseases. Because there is no effective treatment method or vaccine for respiratory tract infection, early diagnosis is vital to identify the pathogen so as to determine the infectivity of the patient and to quickly take measures to curb the spread of the virus, if warranted, to avoid serious public health problems. Real-time reverse transcriptase PCR (rRT-PCR), which has high sensitivity and specificity, is the best approach for early diagnosis.

Prognostic factors of primary neuroendocrine breast cancer: A population-based study.

Background: Primary neuroendocrine breast carcinomas (NEBCs) are an extremely rare and underrecognized subtype of mammalian carcinoma. The prognostic factors for NEBCs remain controversial.

Methods: In this multicenter retrospective study, the prognostic factors for patients with primary NEBCs who underwent surgery and had a pathologically confirmed diagnosis of neuroendocrine carcinoma in China and the United States were examined.

Commutability Assessment of Processed Human Plasma Samples for Normetanephrine and Metanephrine Measurements Based on the Candidate Reference Measurement Procedure.

Background: To identify candidate external quality assessment (EQA) materials for normetanephrine and metanephrine measurements, we assessed the commutability of eight processed human plasma samples. The agreement between routine assays and the candidate reference measurement procedure (cRMP) was also evaluated.

Methods: Fifty-three clinical samples and eight processed plasma samples were prepared.

Need for more robust research on the effectiveness of masks in preventing COVID-19 transmission.

The COVID-19 pandemic has caused dramatic death and infection worldwide, leading to a global public health crisis. As for precautions, scientists have different opinions on the effectiveness of masks in preventing COVID-19 transmission. Published studies suggested that medical masks may help in preventing respiratory virus infection.

[Analysis of the methods and quality assurance of metagenomic next-generation sequencing to detect the microbial cfDNA from blood samples in China].

To investigate the methods and quality assurance of metagenomic next-generation sequencing (mNGS) to detect the microbial cfDNA (mcfDNA) from blood samples in different laboratories across China. In October 2020, questionnaires about detecting mcfDNA in blood samples with mNGS were distributed to 80 laboratories across the country. The questionnaire included four parts: pre-analysis, during analysis, post-analysis, and carrying out of performance validation for mNGS.

Liquid biopsy for early diagnosis of non-small cell lung carcinoma: recent research and detection technologies.

Liquid biopsy, an innovative method for early diagnosis of cancer, has changed the traditional method of diagnosing lung cancer and is considered a feasible auxiliary diagnostic tool. To date, various reports emphasize the need for non-small cell lung carcinoma (NSCLC), both with higher incidence and mortality and less effective treatments; thus, emphasizing the need for early detection of NSCLC for improved patient outcomes. Invasive tissue biopsy is a common diagnostic tool that is usually extracted from the primary tumor to indicate molecular composition.

Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.

This study aimed to evaluate inter-laboratory classification concordance for copy number variants (CNVs) with a semiquantitative point-based scoring metric recommended by the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resources (ClinGen). A total of 234 CNVs distributed by the National Center of Clinical Laboratories (NCCLs), and 72 CNVs submitted by different laboratories, were distributed to nine clinical laboratories performing routine clinical CNV testing in China and independently classified across laboratories. The overall inter-laboratory complete classification concordance rate of the 234 distributed CNVs increased from 18% (41/234) to 76% (177/234) using the scoring metric compared to the laboratory's previous method.

Impact of SARS-CoV-2 Variants on the Analytical Sensitivity of rRT-PCR Assays.

Emerging severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants with enhanced transmissibility, pathogenicity, and immune escape ability have ravaged many countries and regions, which has brought substantial challenges to pandemic prevention and control. Real-time reverse transcriptase PCR (rRT-PCR) is widely used for SARS-CoV-2 detection but may be limited by the continuous evolution of the virus. However, the sensitivity of Chinese commercial rRT-PCR kits to critical SARS-CoV-2 variants remains unknown.

Current status of therapeutic drug monitoring for methotrexate, imatinib, paclitaxel in China.

Background: Accurate TDMs of plasma methotrexate, imatinib and paclitaxel assist in the development of optimal therapeutic regimes. This study aims to investigate the current status of methotrexate, imatinib and paclitaxel measurements in China and explore the suitable EQA materials for those drugs.

Methods: 4 processed plasma samples including 2 levels of frozen pooled plasma samples and 2 levels of lyophilized pooled plasma samples were measured in different laboratories using different measurement systems.

Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Background: Calmette-Guérin (BCG) is currently the most effective intravesical therapy for non-muscle-invasive bladder cancer (NMIBC) as it can prevent disease recurrence and progression and lower mortality. However, the response rates to BCG vary widely and are dependent on a multitude of factors.

Methods: We performed a systematic discovery by analyzing the whole exome sequence, expression profile, and immune repertoire sequence of treatment-naive and 5-year time-serial relapsed tumors from 24 NMIBC patients.

Association of Serum β-Hydroxybutyrate and Coronary Artery Disease in an Urban Chinese Population.

Ketone bodies, including β-hydroxybutyrate (BHB), acetoacetate (AA), and acetone, can substitute and alternate with glucose under conditions of fuel/food deficiency. Ketone-body metabolism is increased in a myriad of tissue-metabolism disorders. Perturbations in metabolism are major contributors to coronary artery disease (CAD).

An automated magnetic bead extraction method for measuring plasma metanephrines and 3-methoxytyramine using liquid chromatography tandem mass spectrometry.

Liquid chromatography tandem mass spectrometry (LC-MS/MS) is used routinely in clinical diagnostics; however, automating the sample pretreatment is challenging. We established and evaluated an automated method based on the magnetic bead extraction principle (MBE) to measure normetanephrine (NMN), metanephrine (MN), and 3-methoxytyramine (3-MT). The target analytes were extracted, purified, and concentrated using different solvents and chemical bond-modified magnetic beads transferred via a magnetic bar.