The pathological advancement of osteoporosis is caused by the uneven development of bone marrow-derived mesenchymal stem cells (BMSCs) in terms of osteogenesis and adipogenesis. While the role of EEF1B2 in intellectual disability and tumorigenesis is well established, its function in the bone-fat switch of BMSCs is still largely unexplored. During the process of osteogenic differentiation, we observed an increase in the expression of EEF1B2, while a decrease in its expression was noted during adipogenesis.
View Article and Find Full Text PDFThe pathogenesis of osteoporosis (OP) is closely associated with the disrupted balance between osteogenesis and adipogenesis in bone marrow-derived mesenchymal stem cells (BMSCs). We analyzed published single-cell RNA sequencing (scRNA-seq) data to dissect the transcriptomic profiles of bone marrow-derived cells in OP, reviewing 56 377 cells across eight scRNA-seq datasets from femoral heads (osteoporosis or osteopenia n = 5, osteoarthritis n = 3). Seventeen genes, including carboxypeptidase M (CPM), were identified as key osteogenesis-adipogenesis regulators through comprehensive gene set enrichment, differential expression, regulon activity, and pseudotime analyses.
View Article and Find Full Text PDFHuman epiphyseal development has been mainly investigated through radiological and histological approaches, uncovering few details of cellular temporal genetic alternations. Using single-cell RNA sequencing, we investigated the dynamic transcriptome changes during post-conception weeks (PCWs) 15-25 of human distal femoral epiphysis cells. We find epiphyseal cells contain multiple subtypes distinguished by specific markers, gene signatures, Gene Ontology (GO) enrichment analysis, and gene set variation analysis (GSVA).
View Article and Find Full Text PDFHamostaseologie
December 2023
Objective: Our study aimed to analyze the phenotype and genotype of a pedigree with inherited dysfibrinogenemia, and preliminarily elucidate the probable pathogenesis.
Methods: The one-stage clotting method was used to test the fibrinogen activity (FIB:C), whereas immunoturbidimetry was performed to quantify the fibrinogen antigen (FIB:Ag). Furthermore, DNA sequence analysis was conducted to confirm the site of mutation.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
March 2023
Objective: To retrospectively analyze the clinical phenotypes and genetic variants in two Chinese pedigrees affected with Hereditary hypofibrinemia (IFD) and explore their molecular pathogenesis.
Methods: Two probands and their pedigree members were admitted to the First Affiliated Hospital of Wenzhou Medical University on March 30, 2021 and May 27, 2021, respectively. Clinical phenotypes of the probands were collected, and blood clotting indexes of the probands and their pedigree members were determined.
Background: Hereditary coagulation factor XII (FXII) deficiency is an autosomal recessive disorder. At present, the contribution of severe FXII deficiency to the development of thromboembolism is still undetermined. There are limited reports on the relationship between the FXII defect and thromboembolism.
View Article and Find Full Text PDFThe incidence and mortality of colorectal cancer (CRC) are increasing year by year. The accurate classification of CRC can realize the purpose of personalized and precise treatment for patients. The tumor microenvironment (TME) plays an important role in the malignant progression and immunotherapy of CRC.
View Article and Find Full Text PDFAlcohol-induced osteonecrosis of the femoral head (ONFH) is a disabling disease with a high incidence and elusive pathogenesis. Here, we used single-cell RNA sequencing to explore the transcriptomic landscape of mid- and advanced-stage alcohol-induced ONFH. Cells derived from age-matched hip osteoarthritis and femoral neck fracture samples were used as control.
View Article and Find Full Text PDFBackground And Aim: Cytochrome P450 2E1 (CYP2E1) plays a role in lipid metabolism, and by increasing hepatic oxidative stress and inflammation, the upregulation of CYP2E1 is involved in development of nonalcoholic steatohepatitis (NASH). We aimed to explore the relationship between CYP2E1-333A>T (rs2070673) and the histological severity of nonalcoholic fatty liver disease (NAFLD).
Methods: We studied 438 patients with biopsy-proven NAFLD.
Mitochondrial DNA B Resour
December 2019
The complete plastid genome of was determined and analyzed in this work. The plastome was 146,897 bp in length with 83,366 bp of the large single-copy (LSC) region, 11,957 bp of the small single-copy (SSC) region, and 25,787 bp of the invert repeats (IR) regions. The genome contained 127 genes, 74 protein-coding genes, 38 tRNA genes, and 8 rRNA genes.
View Article and Find Full Text PDFBackground: Reactive oxygen species modulator 1 (ROMO1) is recognized to be involved in cell proliferation and is elevated in serum of various cancer patients. However, ROMO1 had little research in distinguishing between malignant pleural effusions (MPEs) and benign pleural effusions (BPEs).
Methods: Malignant pleural effusion samples from patients with non-small-cell lung cancer (NSCLC) and benign pleural effusion (BPE) samples containing tuberculous and inflammatory pleural effusions were collected.
Objective: To compare and analyze the clinical effects of internal fixation of minimally invasive elastic stable intramedullary nail and plate in the treatment of pediatric femoral shaft fracture.
Methods: A total of 120 children with femoral shaft fractures who were admitted to our hospital from December 2016 to April 2018 were enrolled. The children were divided into an observation group and a control group by random number table, with 60 children in each group.
Gomisin D, a lignan compound isolated from , is a potential antidiabetic and anti-Alzheimer's agent. Recently, gomisin D was used as a quality marker of some traditional Chinese medicine (TCM) formulas. In this study, a rapid ultra-performance liquid chromatography/tandem mass spectrometry method (UPLC-MS/MS) was developed and validated to quantify gomisin D in rat plasma for a pharmacokinetic and bioavailability study.
View Article and Find Full Text PDFIntroduction: The noninvasive encapsulated follicular variant of papillary carcinoma (EFVPC) was recently renamed a noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) because of its unique genetic alterations and biological behavior. The objective of this report is to help cytopathologists and cytotechnologists improve diagnostic accuracy and determine the need for cytogenetic studies during adequacy evaluation of thyroid fine-needle aspirations.
Materials And Methods: Fifty-five cases of surgery-proven noninvasive EFVPC with corresponding cytology material were reviewed.
Am J Med Genet A
February 2019
Waardenburg syndrome (WS) is a genetic disorder characterized by hearing loss and pigmentary abnormalities with variable penetrance. Though heterozygous mutations in MITF are a major cause for Waardenburg syndrome type 2 (WS2), homozygous mutations in this gene and the associated phenotype have been rarely characterized. In this study, we identified a novel p.
View Article and Find Full Text PDFInt J Health Econ Manag
July 2018
We use a structural approach to separately estimate moral hazard and adverse selection effects in health care utilization using hospital invoices data. Our model explicitly accounts for the heterogeneity in the non-insurable transactions costs associated with hospital visits which increase the individuals' total cost of health care and dampen the moral hazard effect. A measure of moral hazard is derived as the difference between the observed and the counterfactual health care consumption.
View Article and Find Full Text PDFBackground: Midkine (MK) level has been shown to be elevated in serum of patients with nonsmall cell lung cancer (NSCLC). However, the diagnostic value of MK in pleural effusion in NSCLC has not been well validated and established.
Methods: Samples of NSCLC-associated malignant pleural effusions (MPE) and benign effusions (BPE) were collected.
Objectives: To investigate the protective effects and potential mechanisms of Shenhua Tablet (, SHT) on the toll-like receptors (TLRs)-mediated signaling pathways in a rat model of kidney ischemia-reperfusion injury (IRI).
Methods: Sixty male Wistar rats were randomly divided into 5 groups: sham surgery, model control, astragaloside (150 mg•kg•d), low- and high-dose SHT (1.5 and 3.
Rosavin is a bioactive antidepressant component isolated from Rhodiola rosea L. In this work, an ultra-performance liquid chromatography (UPLC) method was established for the determination of rosavin in rat plasma. The chromatographic separation was achieved on a HSS T3 column (100 mm × 2.
View Article and Find Full Text PDFGlandular lesions of the urinary bladder include a broad spectrum of entities ranging from completely benign to primary and secondary malignancies. The accurate diagnosis of these lesions is both important and challenging. Recently, studies suggest that telomerase reverse transcriptase (TERT) promoter mutations could be a biomarker for urothelial carcinoma (UC).
View Article and Find Full Text PDFSmall cell carcinoma (SmCC) is a distinct clinicopathological entity first described in the lung. It represents approximately 15% of all bronchogenic carcinoma. Extrapulmonary small cell carcinoma (EPSmCC) morphologically indistinguishable from small cell lung cancer (SCLC) was first reported in 1930.
View Article and Find Full Text PDFObjective: To study the prevention effect of salidroside on contrast-induced-nephropathy (CIN) and its underlying mechanism.
Methods: A total of 24 Wistar rats were randomly divided into 4 groups with 6 in each group. Rats were firstly administrated with normal saline (control and model groups), N-acetylcysteine (NAC, NAC group) and salidroside (salidroside group) for 7 days before model establishment in each group, respectively.
The cooperative material basis of the multi-component and multi-target mechanism of action of Traditional Chinese Medicine (TCM) is difficult to elucidate because of the current lack of appropriate techniques and strategies. In this paper, we focus on rhubarb treatment of renal fibrosis. Molecular docking, metabolic pathway enrichment, and network pharmacology methods were used to theoretically determine the interaction between the components of the rhubarb and disease targets related to renal fibrosis.
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