查看更多>>摘要：? 2021Introduction: Colorectal cancer (CRC) is the third most common malignancy worldwide, with the second highest mortality rate among all malignancies. In this review, we describe the current utility of stool diagnostic biomarkers for CRC. Methods: We reviewed stool-related tests and biomarker candidates for the diagnosis of CRC. The guaiac-based fecal occult blood test (gFOBT), fecal immunochemical test (FIT), and multitarget stool DNA test (MT-sDNA) have been used as clinical CRC screening tools. Although microRNAs, protein biomarkers, and microbiota have not yet been used in clinical CRC screening, there is growing evidence that they have the potential to function as CRC screening tools. Results: According to the literature, the sensitivity of MT-sDNA for detecting CRC was 87.0–100%, 32.7–82.0% for advanced adenomas, and the specificity was 86.1–95.2%. The sensitivity of individual biomarkers of fecal microRNAs for detecting CRC was 34.2–88.2%, 73.0% for advanced adenomas, and the specificity was 68–100%. The sensitivity of fecal protein markers for detecting CRC was 63.6–93.0%, 47.7–69.4% for advanced adenomas, and the specificity was 38.3–97.5%. The sensitivity of fecal microbiota for detecting CRC was 54.0–100.0%, 32.0–48.3% for advanced adenomas, and the specificity was 61.3–90.0%. Conclusion: MT-sDNA is the most sensitive CRC screening test, and its sensitivity is the highest for advanced adenomas; however, its detection cost is high. MT-sDNA was more sensitive to CRC and advanced precancerous lesions than FIT, but compared to three years of MT-sDNA, annual FIT as the first non-invasive screening test for CRC seemed to be more effective.
查看更多>>摘要：? 2021 Elsevier B.V.Background: Severe disease of COVID-19 and mortality occur more frequently in male patients than that in female patients may be related to testosterone level. However, the diagnostic value of changes in the level of testosterone in predicting severe disease of male COVID-19 patients has not been determined yet. Methods: Sixty-one male COVID-19 patients admitted to the First Affiliated Hospital of Zhejiang University School of Medicine were enrolled. Serum samples at different stages of the patients after admission were collected and testosterone levels were detected to analyze the correlation between testosterone level and disease severity. Transcriptome analysis of PBMC was performed in 34 patients. Results: Testosterone levels at admission in male non-ICU COVID-19 patients (3.7 nmol/L, IQR: 1.5 ～ 4.7) were significantly lower than those in male ICU COVID-19 patients (6.7 nmol/L, IQR: 4.2 ～ 8.7). Testosterone levels in the non-ICU group increased gradually during the progression of the disease, while those in the ICU group remained low. In addition, testosterone level of enrolled patients in the second week after onset was significantly correlated with the severity of pneumonia, and ROC curve showed that testosterone level in the second week after onset was highly effective in predicting the severity of COVID-19. Transcriptome studies have found that testosterone levels of COVID-19 patients were associated with immune response, including T cell activation and regulation of lymphocyte activation. In addition, CD28 and Inositol Polyphosphate-4-Phosphatase Type II B (INPP4B) were found positively correlated with testosterone. Conclusions: Serum testosterone is an independent risk factor for predicting the severity of COVID-19 in male patients, and the level of serum testosterone in the second week after onset is valuable for evaluating the severity of COVID-19. Testosterone level is associated with T cell immune activation. The monitoring of serum testosterone should be highlighted in clinical treatment and the related mechanism should be further studied.
Armentia A.Fernandez S.San Miguel Rodriguez A.San Miguel Hernandez A....
7页
查看更多>>摘要：? 2021Aims: We present a hypersensitivity immune response to inhalation of antigens from fossil soils frequently used in tile manufacture. We found that the soil polished by a worker affected by pneumonitis was a paleosol containing bivalves from the cretaceous period called Hippurites. Methods: We made a diagnostic study for pneumonitis (analysis, microbiology, radiology, high-resolution CT, bronchoalveolar lavage, pulmonary biopsy. A biochemical study of the polishing materials used (magnesium hexafluorosilicate crystallizer), steel spoilage, washing liquid and Bilbao red limestone) after scraping of the same. Allergy study included skin tests with extracts from fossil soils, determination of IgG and IgE to mollusks, IgE-immunodetection with soil extracts with the patient's serum and non-atopic controls. Histology was made using scanning electron microscopy of the lung biopsy and the fossil soil to determine the presence of remains of mollusks, fungi, pollen or other fossil elements. Results: SDS-PAGE IgE Immunoblotting assay detecting IgE binding in soil extract between 66 and 35 kDa. Likewise, IgE-Immunblotting assay with extracts from bivalve mollusks (razor shell, mussel and scallop) and gastropod (sea snail), detecting IgE binding between 100 kDa ? 30 kDa, as well as in some bands with molecular mass between 20 and 14 kDa, proving sensitization to mollusks. Conclusions: Bivalve proteins preserved in fossil soils may produce an immune hypersensitivity response. This may impact on the precautions exposed workers, in this case fossil soil cutters and polishers, should take.
查看更多>>摘要：? 2021 Elsevier B.V.The decline of the estimated glomerular filtration rate (eGFR) and the presence of albuminuria are the typical hallmarks of kidney disease arising as one of the most frequent diabetic complications over a long period of time, generally known as diabetic nephropathy or diabetes kidney disease (DKD). However, a decline in the renal function may occur in diabetic patients for other reasons unrelated to glycemic control, and this condition is known as non-diabetic kidney disease (NDKD). In this opinion paper we will review these conditions, and we outline the importance of other investigations, such as kidney biopsy and the measurement of novel biomarkers, in order to identify the disease progression early, and to allow a timely intervention. We will also focus on the actual limits of the quantitative measurements of albumin in urine, especially with regards to potential interferences due to the treatment of patients with statins.
查看更多>>摘要：? 2021Excess nitrogen in the body is converted to urea in the liver, and urea is disposed as a waste product in urine. Urea concentration can change in body fluids such as blood due to the presence of certain disorders. Therefore, the determination of urea is of high importance in various areas including medical diagnosis, as well as food quality control and environmental monitoring. Potentiometric sensors have certain advantages over their alternatives, such as rapidity, portability, cost effectiveness, high sensitivity, easy operation and simple apparatus. Potentiometric urea biosensors based on enzyme urease have been developed using various materials including nanoparticles and films, and also using different methodologies. In this review, we covered potentiometric urea biosensors reported in the literature, and touched upon their certain structure characteristics and performance parameters including detection limit, working concentration range, response time and lifetime, all of which are of practical importance. Each potentiometric urea biosensor has its own advantages and drawbacks, thus the selection of appropriate method depends on the sample to be analyzed, its urea concentration range and other requirements of the particular application. Further research is needed in order to optimize the performance of these devices and to broaden their applicability.
查看更多>>摘要：? 2021Background and aims: Several types of measurement procedures (MPs) for protein C activity assays are currently available. Clinical sample (CS) results among different MPs should be comparable. The commutability of reference materials (RMs) is an essential requirement to achieve comparability of CS results. Materials and methods: Considering the total error calculated using reliable biological variation (BV) data and external quality assessment (EQA) criteria, we chose the allowable limits of comparability and criterion of commutability. According to Clinical and Laboratory Standardization Institute EP9 and our previous studies, 92 CSs were used to evaluate the comparability among the three MPs (Sysmex CS-5100, IL ACL TOP 700, and STA-R Evolution). The difference in bias method recommended by International Federation of Clinical Chemistry and Laboratory Medicine was used to assess the commutability of six RMs, including World Health Organization (WHO) IS 02/342. Results: The compliance rates of CSs were 94.6–100% with the corresponding calibration mode. WHO IS, HemosIL calibration plasma, and candidate RMs, PC20201 and PC20202, were commutable between each pair of the three MPs. Conclusion: It is feasible to set the allowable limits of comparability and the criterion of commutability based on the BV and EQA criteria.
查看更多>>摘要：? 2021Background: Autism spectrum disorder (ASD), a neurodevelopmental disorder, is featured by impaired social communication and restricted and repetitive behaviors and interests. ASD and comorbid neurodevelopmental disorders (ASD-NDDs), especially epilepsy and intellectual disability (ID)/global developmental delay (GDD) are frequently presented in genetic disorders. The aim of this study was to explore the clinical and genetic profile of ASD in combination with epilepsy or ID/GDD. Methods: We retrospectively analyzed the clinical characteristics, and genetic spectrum of pediatric patients presenting ASD-NDDs with proven genetic etiology. The pathogenicity of variants was conducted by molecular geneticists and clinicians complied with the guidelines of the American College of Medical Genetics and Genomics (ACMG). Results: Among 154 patients with ASD-NDDs, 79 (51.3%) patients gained a genetic diagnosis. Most patients (78/79, 98.7%) had comorbid ID or GDD, and 49 (49/79, 62.0%) had comorbid epilepsy. The clinical characteristics of those 79 patients were varied. 87 genetic variants were found among the 79 pedigrees. Most of the involved genes have roles in gene expression regulation (GER) and neuronal communication (NC). Most genes have been proven to be ASD-related genes, and some of them were not reported to contribute to ASD previously. Conclusion: We summarized the genetic and clinical profile of 79 ASD-NDDs patients with proven genetic etiology. The genetic spectrum of ASD was expanded, and we highlighted a novel possible ASD candidate gene PRTG.
查看更多>>摘要：? 2021 Elsevier B.V.Accumulated evidence have revealed profound associations between C1q/TNF-related proteins (CTRPs) and coronary artery disease (CAD); yet, the relationship of CTRP4 to CAD has not been investigated. We examined the role of CTRP4 in CAD, and especially in acute coronary syndrome (ACS). Methods: A total of 138 patients referred for coronary angiography were included in this study and were classified into 3 groups (ACS, CAD and control group). Comparisons regarding clinical data and CTRP4 concentration were performed among 3 groups. Weighted least-squares regression analysis was used to identify the independent predicting factors for CTRP4. Results: Compared with either CAD (median 7.19 vs. 9.43, P < 0.05) or control group (median 7.22 vs. 9.43, P < 0.01), ACS group showed higher CTRP4 concentration. In addition, trend χ2 test revealed the presence of ACS increased with increased CTRP4 concentration (P = 0.010). Finally, in the weighted least-squares regression analysis, ACS was the only independent variable influencing CTRP4 concentration (β- coefficient = 3.082, P = 0.004), even after adjusting for high-sensitivity C reactive protein (β- coefficient = 3.050, P = 0.007). Conclusions: CTRP4 was associated with ACS; moreover, ACS was the independent factor in predicting CTRP4 concentration. The potentially important implications of CTRP4 in ACS may offer a novel insight into understanding the link between inflammation and ACS.
查看更多>>摘要：? 2021 Elsevier B.V.Background: Mucopolysaccharidosis (MPS) refers to a group of lysosomal storage disorders for which seven types and 11 subtypes are currently recognized. Targeted next-generation sequencing (NGS) offers an important method of disease typing, diagnosis, prenatal diagnosis, and treatment. Methods: Gene variations in 48 Chinese MPS patients were evaluated using NGS, and the pathogenicity of the DNA alterations was evaluated using PolyPhen2, SIFT, and Mutation Taster. The effect of amino acid substitution on protein structure was also assessed. Results: Four pedigrees with MPS I (8.3%), 28 with MPS II (58.3%), two with MPS IIIA (4.2%), two with MPS IIIB (4.2%), six with MPS IVA (12.5%), one with MPS IVB (2.1%), and five with MPS VI (10.4%) were identified. Of the 69 variations identified, 11 were novel variants (three in IDUA, five in IDS, and three in GALNS), all of which were predicted to be disease-causing except for one, and were associated with impaired protein structure and function. Conclusions: Targeted NGS technology is effective for the gene-based testing of MPS disorders, which show high allelic heterogeneity. MPS II was the predominant form in Chinese. Our study expands the existing variation spectrum of MPS, which is important for disease management and genetic counseling.
NSTL
Elsevier