Open Medicine最新文献

Background: Prader-Willi Syndrome (PWS) is a rare disorder that was initially documented by Prader and Willi in 1956. Despite significant advancements in the understanding of PWS over recent decades, no bibliometric studies have been reported on this field. We aimed to analyze and explore the research trends and hotspots of PWS using a bibliometric analysis to understand the future development of basic and clinical research.

Methods: The literature regarding PWS was retrieved from the Web of Science Core Collection Science Citation Index Expanded (SCI-Expanded) database. Data were extracted from the articles or review articles, and analyzed using CiteSpace and VOSviewer software.

Results: A total of 1,895 related studies have been published in 64 countries or regions. The United States has published the most articles, followed by the United Kingdom, Italy, Netherlands, and France. University of Florida (The United States), University of Kansas (The United States), University of Alberta (Canada), University of Cambridge (the United Kingdom), and Dutch Growth Research Foundation (Netherlands) were the top five most productive institutions. Butler, Merlin G. and his colleagues have made the most outstanding contributions in the field of PWS research. Keyword co-occurrence analysis showed that genomic imprinting, uniparental disomy, obesity, hyperphagia, hypothalamus, growth hormone treatment, and ghrelin appeared with the higher frequency. Furthermore, oxytocin, magel2, and management were the latest bursts keywords.

Conclusion: Our findings indicated that genetic mechanism, diagnose, and emerging therapies will be the hotspots and frontiers in PWS research.

Background: Bladder cancer, a significant health concern worldwide, often necessitates diverse surgical interventions and postoperative treatments. Understanding the complications arising from these procedures is vital for enhancing patient outcomes and quality of life.

Methods: This study encompassed 80 bladder cancer patients, evaluating their demographic characteristics, systemic conditions, cancer stages, tumor diameter, surgical procedures, and postoperative treatments. The occurrences and types of complications were meticulously documented, alongside the duration and clinical outcomes of these complications. Different surgical procedures were analyzed to discern their respective complication rates.

Results: In all 80 patients, infections (43.75%) emerged as the most common, followed by bladder spasms (16.25%). Notably, complications varied among different surgical procedures, with infection, bladder spasms, and bleeding being prominent in various cases. The correlation analysis did not demonstrate correlation (r = 0.13, p = 0.26) between bladder cancer stage and duration of complication. Post-treatment interventions, especially anti-infection therapies, showcased positive results, with the majority of patients maintaining or improving their condition after specific treatments.

Conclusion: Our study underscores the diverse landscape of postoperative complications in bladder cancer patients. The findings emphasize the importance of tailored interventions based on specific complications, cancer stages, and surgical procedures.

Objective: The aim of this study was to observe the effect of nasal high-flow humidification oxygen therapy on choking reactions and related respiratory and hemodynamic effects in elderly patients undergoing fiberoptic bronchoscopy.

Methods: A total of 126 elderly patients aged 65-80 years who underwent painless fiberoptic bronchoscopy from March 2021 to December 2021 were randomly divided into two groups.

Results: The pulse oxygen saturation at T1 and T2 time points in the experimental group was higher than that in the control group (P < 0.05), and the average arterial pressure was slightly lower than that in the control group, but there was no statistical significance. In the experimental group, the total dosage of propofol and sufentanil increased, the microscopic examination time shortened, the choking reaction decreased significantly(P < 0.05), and the total incidence of hypoxemia decreased (P < 0.05).

Conclusion: The application of nasal high-flow humidification oxygen therapy in elderly painless fiberoptic bronchoscopy improves the oxygenation ability of patients increases the use of narcotic drugs, does not have a great impact on hemodynamics, reduces choking reaction, and is more conducive to the operation of endoscopy doctors.

Background: Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin's lymphoma. Ferroptosis, an iron-dependent programmed cell death, is closely related to cancer prognosis. In this study, we established a model of ferroptosis related genes for prognostic evaluation of patients with MCL.

Methods: Using the single-cell RNA sequencing datasets GSE184031 and mRNA sequencing data GSE32018 from the Gene Expression Omnibus, we identified 139 ferroptosis-related genes in MCL. Next a prognostic model was constructed by Cox regression and Least absolute selection and shrinkage Operator regression analysis. Finally, we used CIBERSORT to analyze the immune microenvironment and the "oncoPredict" package to predict potential drugs.

Results: In our model, the prognosis of MCL patients was assessed by risk scoring using 7 genes ANXA1, IL1B, YBX1, CCND1, MS4A1, MFHAS1, and RILPL2. The patients were divided into high-risk and low-risk groups based on our model, and the high-risk patients had inferior overall survival. Finally, according to our model and computational drug sensitivity analysis, four small molecule compounds, BMS-754807, SB216763, Doramapimod, and Trametinib, were identified as potential therapeutic agents for patients with MCL.

Conclusion: In summary, we provide a prognostic model with ferroptosis-related gene signature for MCL. This study provides a prognostic model with ferroptosis-related gene signature for MCL. The results show that the model helps predict prognosis in MCL.

Ischemic stroke, which accounts for the majority of stroke cases, triggers a complex series of pathophysiological events, prominently characterized by acute oxidative stress due to excessive production of reactive oxygen species (ROS). Oxidative stress plays a crucial role in driving cell death and inflammation in ischemic stroke, making it a significant target for therapeutic intervention. Nanomedicine presents an innovative approach to directly mitigate oxidative damage. This review consolidates existing knowledge on the role of oxidative stress in ischemic stroke and assesses the potential of various ROS-scavenging nanoparticles (NPs) as therapeutic agents. We explore the properties and mechanisms of metal, metal-oxide, and carbon-based NPs, emphasizing their catalytic activity and biocompatibility in scavenging free radicals and facilitating the delivery of therapeutic agents across the blood-brain barrier. Additionally, we address the challenges such as cytotoxicity, immunogenicity, and biodistribution that need to be overcome to translate these nanotechnologies from bench to bedside. The future of NP-based therapies for ischemic stroke holds promise, with the potential to enhance outcomes through targeted modulation of oxidative stress.

Heart failure (HF) is a common cardiovascular disease that is related to systemic inflammation. This study aimed to assess the role of C-reactive protein (CRP) combined with fibrinogen-to-albumin ratio (C-FAR) on the prognosis of all-cause mortality in different types of HF. A total of 1,221 hospitalized HF patients from the First Affiliated Hospital of Kunming Medical University between January 2017 and October 2021 were retrospectively analyzed. Patients were categorized into a low C-FAR group (C-FAR < 0.69) and a high C-FAR group (C-FAR ≥ 0.69) according to the median C-FAR value. We used Kaplan-Meier plots, restricted cubic spline regression, Cox survival analyses, and time-dependent receiver operating characteristic (ROC) analyses to evaluate the prognostic role of C-FAR on all-cause mortality in different types of HF. After excluding patients lost to follow-up and those with missing data, we ultimately included 1,196 patients with HF. The Kaplan-Meier plots showed that HF patients with high C-FAR levels had a significantly greater risk of all-cause mortality. In all four Cox proportional risk models, C-FAR was an independent predictor of all-cause mortality. Based on the ROC curve, the area under the curve (AUC) for C-FAR was greater than the AUC for Lg BNP. In the subgroup analyses, patients had the highest risk of all-cause mortality when FAR ≥ 0.091 and CRP ≥ 7.470. Regardless of the type of HF, C-FAR can be a good predictor of prognosis for all-cause mortality in HF patients, and patients with high C-FAR had a significantly increased risk of death compared to those with low C-FAR.

Background: This study investigated the role and mechanisms of cullin-1 (CUL1) in chronic obstructive pulmonary disease (COPD).

Methods: Cigarette smoke extract (CSE)-treated mouse pulmonary microvascular endothelial cells (mPMECs) and cigarette smoke inhalation (CSI)-stimulated mice were used to construct in vitro and in vivo COPD models, respectively. CUL1 expression was assessed using reverse transcriptase-quantitative polymerase chain reaction, Western blotting, and immunohistochemistry. The 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay and flow cytometry were used to detect cell viability and apoptosis, respectively. We conducted an enzyme-linked immunosorbent assay on mPMECs and bronchoalveolar lavage fluid (BALF) to detect inflammatory factors. Reactive oxygen species, malondialdehyde, and superoxide dismutase were detected using the corresponding kits. The histological characteristics of the lung tissues were determined by hematoxylin and eosin staining.

Results: CUL1 expression was downregulated in COPD. CUL1 overexpression significantly promoted cell viability, reduced cell apoptosis, and inhibited inflammatory responses and oxidative stress in CSE-treated mPMECs. These changes were reversed by the p53 agonist nutlin-3. In addition, CUL1 overexpression significantly relieved COPD in mice, as confirmed by the reduced secretion of inflammatory factors in BALF, inhibited oxidative stress response, and improved lung function.

Conclusion: CUL1 plays a protective role in CSE-treated mPMECs and CSI-stimulated mice by inhibiting the p53 signaling pathway.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are common X-inherited neuromuscular diseases. The genetic diagnosis has been used as the diagnostic choice for DMD/BMD. The study subjects consisted of 37 patients from Southwest China. Peripheral blood was collected for the extraction of genomic DNA. DMD mutation was sequenced using the next-generation sequencing approach. The detected mutation was validated using the multiplex ligation-dependent probe amplification or Sanger sequencing methods. Variation annotation and pathogenicity prediction were performed using the online databases. Pathogenic mutations were identified 3 splicing site, 7 single nucleotide, 1 indel, 23 deletion, and 3 duplication mutations. Novel DMD variants were discovered, including two novel splicing variations (c.1890 + 1G>T; c.1923 + 1G>A), one missense mutation (c.1946G>T), one nonsense mutation (c.7441G>T), one indel mutation (INDEL EX20), and one duplication mutation (DUP EX75-78). The current study provides mutation information of DMD for the genetic diagnosis of DMD/BMD.

Objective: Dysregulation of chondrogenic differentiation is associated with osteoarthritis (OA). The myokine irisin is beneficial in OA treatment; yet, the underlying mechanism is not fully understood. Long noncoding RNAs (lncRNAs) act as important regulators of chondrocyte differentiation. This study was conducted to address the role of lncRNAs in mediating irisin-induced chondrocyte differentiation.

Methods: We investigated the irisin-regulated lncRNA profile change in human mesenchymal stem cells (MSCs) using published whole transcriptome sequencing data. We predicted their potential targets and competitive endogenous RNA (ceRNA) prediction and analyzed their molecular functions using functional enrichment analysis.

Results: More differentially expressed lncRNAs (DElncRNAs) were observed in irisin-treated samples. The top irisin-induced lncRNAs were associated with OA or chondrogenic differentiation, including XIST, PAX8-AS1, CASC15, LINC01618, and DLX6-AS1. The DEGs co-expressed with DElncRNAs were enriched in skeletal system development, extracellular matrix (ECM) organization, cell adhesion, and inflammation associated pathways. Several lncRNAs likely acted as ceRNAs to regulate downstream mRNAs including ROR2 and SORBS1 in in OA or chondrogenic differentiation.

Conclusions: We demonstrate the global regulation of lncRNAs by irisin during chondrogenic differentiation of human MSCs. Further study is required to characterize the key irisin-regulated lncRNAs in chondrogenic differentiation.

Objective: To explore the role of cystic fibrosis transmembrane conduction regulator (CFTR)-Epithelial sodium channel (ENaC) in spinal cord edema after spinal cord injury (SCI) and the related mechanism.

Methods: Lipopolysaccharide (LPS)-treated M1830 astrocytes were applied as the SCI in vitro model. Immunohistochemistry, real-time PCR, and Western blotting were utilized to detect CFTR and ENaC expression. Enzyme-linked immunosorbent assay was used to measure inflammatory cytokines including TNF-α, IL-1β, IL-6, and IL-18. Transmission electron microscope examined ultrastructure changes, while CFTR-172 or Capsazepine treatment assessed their effects on edema and inflammation. Western blot analysis was employed to evaluate the PI3K, p-PI3K, AKT, and p-AKT signaling pathways in treated cells.

Results: LPS-treated M1830 cells exhibited increased levels of CFTR and pro-inflammatory cytokines, including TNF-α, IL-1β, IL-6, and IL-18, alongside decreased ENaC expression and suppressed p-PI3K/PI3K and p-AKT/AKT levels. Degeneration of the myelin sheath and axons was observed in LPS-treated M1830, while changes in ultrastructural were recovered after adding CFTR-172 or Capsazepine. The level of CFTR, TNF-α, IL-1β, IL-6, and IL-18 was decreased, while the level of ENaC, p-PI3K/PI3K, and p-AKT/AKT was increased obviously in LPS-treated M1830 with CFTR-172, Capsazepine, or IGF-1.

Conclusion: Down-regulation of CFTR and up-regulation of ENaC can attenuate inflammation in SCI by activating the PI3K/AKT signaling pathway, highlighting a new therapeutic approach for SCI treatment. These findings address a critical gap in current SCI treatments and suggest a novel intervention strategy targeting ion channel regulation.