Biotechnology & Genetic Engineering Reviews最新文献

Objective: To analyze the genetic test results of 378 patients suspected of thalassemia.

Methods: 378 suspected thalassemia patients in Shaoxing People's Hospital from 2014 to 2020 were selected and venous blood was tested using Gap-PCR and PCR-reversed dot blottin. The distribution of genotypes and other information of gene-positive patients was observed.

Results: Thalassemia genes were detected in 222 cases, with an overall detection rate of 58.7%, of which 41.4% were α deletion type, 1.35% were α dot, 52.7% were α thalassemia, and 4.5% were αβ complex type. Among the 86 people with provincial household registration, the α-thalassemia gene accounted for 65.1% and the β-thalassemia gene accounted for 25.6%. Follow-up found that Shaoxing nationality accounted for 53.1% of positive patients, of which β-thalassemia gene accounted for 72.9% and α-thalassemia gene accounted for 25.4%; other cities in the province accounted for 8.1% of the total. Other provinces and cities accounted for 38.7%, most of which were from Guangxi and Guizhou. Among all positive patients, the most common α-thalassemia genotypes were --sea / αα, --α / αα,--α 3.7 4.2 / αα , --α3.7 / --sea. The most common mutations in β-thalassemia were IVS-II-654, CD41-42, CD17 and CD14-15.

Conclusion: The thalassemia gene carrier status was sporadically distributed outside the traditional thalassemia high prevalence areas. The local population in Shaoxing has a high detection rate of thalassemia genes, and the genetic composition is different from the traditional high prevalence area of thalassemia in the south.

One of the most essential chemical processes that is utilized in the manufacturing of a great deal of contemporary goods is called heterogeneously catalyzed reactions, and it is also one of the most fascinating. Metallic nanostructures are heterogeneous catalysts for range reactions due to their huge surface area, large assembly of active surface sites, and quantum confinement effects. Unprotected metal nanoparticles suffer from irreversible agglomeration, catalyst poisoning, and limited life cycle. To circumvent these technical disadvantages, catalysts are frequently spread on chemically inert materials like as mesoporous Al2O3, ZrO2, and different types of ceramic material. In this research, plentiful bauxite residue is used to create a low-cost alternative catalytic material. We have hydrogenated p-Nitrophenol to p-Aminophenol on bauxite residue (BR) supported silver nanocomposites (Ag NCs). The phase and crystal structure, bond structure and morphological analysis of the developed material will be done XRD, FTIR, and SEM-EDX respectively. The ideal conditions were 150 ppm of catalyst, 0.1 mM of p-NP, and 10 minutes overall up-to 99% conversion of p-NP to p-AP. A multi-variable predictive model created using Response Surface Methodology (RSM) and a data-based Artificial Neural Network (ANN) model were found to be the best ways to predict the maximum conversion efficiency. ANN models predicted efficiency more accurately than RSM models, and the strong agreement between model predictions and experimental data was indicated by their low relative error (RE0.10), high regression coefficient (R2>0.97), and Willmott-d index (dwill-index > 0.95) values.

Research background: Colorectal cancer (CRC) is one of the most prevalent malignant tumors in the world. Research on long noncoding RNAs (LncRNAs) may illuminate tumorigenesis and progression of CRC.

Methods: We screened long non-coding RNA LINC00460 as a new candidate, which promoted the development of CRC in two independent datasets (GSE39582 and GSE21510) from the Gene Expression Omnibus (GEO). In 98 CRC tissues, expression levels of LINC00460 were significantly increased in cancerous tissues compared to paired adjacent normal tissues (P < 0.001). In addition, in the most common CRC cell lines. LINC00460 expression was up-regulated compared to normal human intestinal epithelial cell line NCM460. siRNA was transfected into CRC cell lines. LINC00460 knockdown reduced cell invasion ability and did not affect cell proliferation. The association between LINC00460 expression and clinical pathological features and prognosis were also analyzed.

Results: This increased expression was found to significantly correlate with lymph node metastasis (P = 0.002), distant metastasis (P = 0.045) and TNM stage (P < 0.001); but not related to age, gender, location of tumor, and histological grade. The overall survival (OS) in CRC patients with overexpression of LINC00460 was inferior to that with low expression (P = 0.0167). Multivariate Cox regression analyses indicated that LINC00460 expression, as well as TNM stage was an independent prognostic risk factor for patients with CRC.

Conclusion: These results showed that a higher expression level of LINC00460 might play an oncogenic role in colorectal cancer invasion and metastasis. It also proved that LINC00460 might be used as a potential diagnostic and prognostic biomarker in CRC patients.

This study aimed to evaluate the potential of deep learning applied to the measurement of echocardiographic data in patients with sudden cardiac death (SCD). 320 SCD patients who met the inclusion and exclusion criteria underwent clinical evaluation, including age, sex, BMI, hypertension, diabetes, cardiac function classification, and echocardiography. The diagnostic value of deep learning model was observed by dividing the patients into two groups: training group (n=160) and verification group (n=160), as well as two groups of healthy volunteers (n=200 for each group) during the same period. Logistic regression analysis showed that MLVWT, LVEDD, LVEF, LVOT-PG, LAD, E/e' were all risk factors for SCD. Subsequently, a deep learning-based model was trained using the collected images of the training group. The optimal model was selected based on the identification accuracy of the validation group and showed an accuracy of 91.8%, sensitivity of 80.00%, and specificity of 91.90% in the training group. The AUC value of the ROC curve of the model was 0.877 for the training group and 0.995 for the validation groups. This approach demonstrates high diagnostic value and accuracy in predicting SCD, which is clinically important for the early detection and diagnosis of SCD.

This study analyzed sequencing and clinical data from the Cancer Genome Atlas (TCGA) and gene expression synthesis, and used Chinese glioma Genome Atlas (CGGA) data for external validation. The expression of DCP2 in normal brain and tumor tissue was compared. We analyzed the clinical and molecular characteristics and prognostic value of DCP2 in glioma. In addition, DCP2 expression levels were evaluated in 30 glioma tissue samples and upregulated in glioma samples compared to normal brain tissue (p < 0.001). Multivariate data analysis from TCGA showed that increased DCP2 expression was an independent risk factor for overall survival and prognosis of glioma patients. As indicated by the analysis of the TCGA data set. The expression level of DCP2 is closely related to tumor immunity, including tumor immune cell infiltration, immune score, and co-expression of multiple immune-related genes. In addition, DCP2 was positively correlated with IL-6 and IL-7. Glioma cell proliferation and invasion were evaluated using cell viability, colony formation, wound healing, and transwell assays.Apoptosis and cell cycle were detected by flow cytometry. DCP2 promoted the proliferation, invasion and migration of glioma cells T98G and U251, inhibited apoptosis and blocked the S phase of the cell cycle. As a result of the altered expression of DCP2, a new prognostic biomarker may be identified that can improve patient survival.These findings suggest DCP2 as a potential biomarker for the prognosis of glioma and a candidate immunotherapy target.

To explore the significance of the analysis of pathological characteristics of breast cancer and the detection of myeloid-derived suppressor cell (MDSC) levels in peripheral blood for the evaluation of biological characteristics. 138 breast cancer patients were enrolled as the research group, while 138 patients with benign breast diseases were included as the control group. All patients underwent pathological analysis and detection of peripheral blood MDSCs levels, progesterone receptor (PR), estrogen receptor (ER), human epidermal growth factor receptor 2 (HER-2), and proliferating cell nuclear antigen (Ki-67). A factorial study of stage I, II, and III breast cancer patients showed significant differences in clinicopathological characteristics, including age, tumor size, lymph node metastases, histological grading, Neuropsychiatric Inventory (NPI) score, pathological type, and family history (P < 0.05). The research group had higher levels of peripheral blood MDSCs and different cell surface markers compared to the control group (P<0.05). Positive expression of biological molecules in breast cancer, such as PR, ER, HER-2, and Ki-67, had significant differences based on lymph node metastasis and tumor size (P < 0.05). The quality of survival scores was higher in stages I and II compared to stage III (P < 0.05). Age, recurrence, metastasis, and other pathological characteristics of breast cancer have a direct impact on clinical outcomes and survival rates. Peripheral blood levels of MDSCs and other cell surface markers are significantly elevated, serving as a crucial benchmark for the subsequent evaluation of breast cancer progression.

Hyperuricemia (HUA) is a common complication of chronic kidney disease (CKD). Conversely, HUA can promote the disease progression of CKD. However, the molecular mechanism of HUA in CKD development remains unclear. In the present study, we applied ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) to analyze the serum metabolite profiling of 47 HUA patients, 41 non-hyperuricemic CKD (NUA-CKD) patients, and 51 CKD and HUA (HUA-CKD) patients, and then subjected to multivariate statistical analysis, metabolic pathway analysis and diagnostic performance evaluation. Metabolic profiling of serums showed that 40 differential metabolites (fold-change threshold (FC) > 1.5 or<2/3, variable importance in projection (VIP) > 1, and p < 0.05) were screened in HUA-CKD and HUA patients, and 24 differential metabolites (FC > 1.2 or<0.83, VIP>1, and p < 0.05) were screened in HUA-CKD and NUA-CKD patients. According to the analysis of metabolic pathways, significant changes existed in three metabolic pathways (compared with the HUA group) and two metabolic pathways (compared with the HUA-CKD group) in HUA-CKD patients. Glycerophospholipid metabolism was a significant pathway in HUA-CKD. Our findings show that the metabolic disorder in HUA-CKD patients was more serious than that in NUA-CKD or HUA patients. A theoretical basis is provided for HUA to accelerate CKD progress.

We study the clinical value of peripheral blood immunoglobulin G (IgG) and immunoglobulin M (IgM) combined with ultrasonic echo parameters of substantia nigra (SN) in the diagnosis of Parkinson's disease (PD). The clinical data of 121 patients with PD (case group) in our hospital from November 2020 to November 2022 were selected for retrospective analysis, and 9 patients with poor sound transmission of temporal window were excluded. Finally, this study included 112 patients with PD and selected 108 health examination population in the same period (control group). The levels of IgG and IgM in both groups were detected, and ultrasound examination was carried out to observe the structure of SN and obtain strong echo area of SN, midbrain area and strong echo area of SN/midbrain area. The receiver operator characteristic curve of serum IgG and IgM combined with ultrasonic echo parameters of SN in the diagnosis of PD was drawn to evaluate the clinical efficacy of single diagnosis and combined diagnosis. Compared with the control group, the serum levels of IgG and IgM, strong echo area of SN, midbrain area and strong echo area of SN/midbrain area in the case group were obviously higher (P < 0.001), while the folic acid level was notably lower (P < 0.05). The AUC value, Youden index and sensitivity of combined diagnosis were higher than those of single detection. Peripheral blood IgG and IgM combined with ultrasonic echo parameters of SN have high clinical value in the diagnosis of PD, which can provide a new direction for the subsequent diagnosis of PD.

Clear cell renal cell carcinoma (ccRCC) is the predominant type of kidney cancer, and the mutation of PBRM1 (Polybromo 1) gene is a commonly observed genetic alteration. The high frequency of PBRM1 mutation in ccRCC suggests its potential use as a biomarker for personalized therapy. In this study, we aimed to investigate the significance of PBRM1 mutation in disease progression and drug sensitivity in ccRCC. Additionally, we analyzed the critical pathways and genes associated with PBRM1 mutation to understand its potential mechanisms. Our findings show that PBRM1 mutation was observed in 38% of ccRCC patients and correlated with advanced disease stages. We also identified selective inhibitors for ccRCC with PBRM1 mutation using online databases such as PD173074 and AGI-6780. Furthermore, we identified 1253 genes as differentially expressed genes (DEGs) that were significantly enriched in categories such as metabolic progression, cell proliferation, and development. Although PBRM1 mutation did not show an association with ccRCC prognosis, a lower PBRM1 expression level correlated with worsened prognosis. Our study provides insights into the association of PBRM1 mutation with disease progression in ccRCC and suggests potential gene and signaling pathways for personalized treatment in ccRCC with PBRM1 mutation.

Objective: To analyze the effect of cetuximab combined with radiotherapy in patients with rectal carcinoma (RC) by imaging analysis.

Methods: The clinical data of 104 RC patients at our hospital from February 2021 to February 2022 were retrospectively analyzed. They were separated into control group (n = 52) and experimental group (n = 52) according to the order of admission, with the former treated with radiotherapy alone and the latter receiving cetuximab and radiotherapy. The clinical efficacy, tumor marker levels and imaging parameters of different treatment regimens were compared, and Quality of Life questionnaire (QLQ-C30) was used to evaluate the quality of life.

Results: The incidence of tumor regression grade (TRG) downgrade, T stage downgrade and N stage downgrade was remarkably higher in the experimental group than in the control group (P < 0.05). The experimental group had remarkably lower tumor marker levels (P < 0.001) and higher mean score of EORTC Core QLQ-C30 (P < 0.001) than those in the control group. The relative signal intensity of tumor (SIT/M), relative signal intensity reduction rate of tumor (SIT/MRR) and apparent diffusion coefficient (ADC) values were remarkably higher (P < 0.001) and the absolute signal intensity of tumor (SIT) value was remarkably lower (P < 0.001) in the experimental group than the control group.

Conclusion: Treatment with cetuximab and radiotherapy can greatly reduce serum tumor marker levels in RC patients and bring them health benefits, and further studies will help establish a better solution for such patients.