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Background: NRXN1-related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic seizures, and motor dysfunction. Defects in NRXN1 gene have been identified in cases diagnosed as Pitt-Hopkins-like-syndrome 2 (PTHLS2; OMIM#614325).

Methods: Literature review of NRXN1-related disorders was conducted and main clinical features of individuals affected by these disorders were analyzed. In addition, clinical features of individuals labelled with PTHSL2 diagnosis were reported. A comparison between international consensus diagnostic criteria for Pitt-Hopkins syndrome (PTHS) and twins presenting with NRXN1-related disorder and followed by this institution were also presented.

Results: Our data confirmed that NRXN1-related disorders mainly manifest with undistinctive dysmorphic features and neurological involvement consisting of more or less severe developmental delay/intellectual disability, autistic spectrum disorder, and epilepsy. Relationship between PTHSL2 and NRXN1 remains to be established.

Conclusions: Our present analysis denoted a heterogeneous and unspecific clinical framework of the NRXN1-related disorders mainly affecting the nervous system for which the clinical diagnosis remains inconclusive without the support of genetic analysis. Further contributions are necessary to better clarify the clinical assessment of PTHSL2.

Objective: To explore the role of oxidative stress on glycogen synthase kinase-3 in lymphocytes of diabetes mellitus (DM) patients complicated with cerebral infarction (CI).

Materials and methods: A total of 186 DM patients were enrolled according to the inclusion criteria and exclusion criteria, including 89 DM patients alone (DM group) and 97 DM patients with CI (DM + CI) group. Eighty-one patients with CI were selected as the CI group, and 80 normal subjects over 50 years were selected as the control group. Superoxide dismutase (SOD) activity, glutathione peroxidase (GSH-Px) activity, and malondialdehyde (MDA) content in serum were determined by colorimetric assays. Phosphorylation of GSK-3β was measured by enzyme-linked immunosorbent assay.

Results: (1) Compared with the control group, the SOD and GSH-Px activities in the DM group and DM + CI group were decreased, accompanied by higher MDA content. Furthermore, phosphorylation of GSK-3β was decreased. (2) In the DM + CI group, SOD activity was decreased on days 7 and 10 and month 3 compared to the CI group and was decreased on day 7 compared to the DM group. MDA content was increased from day 0 to month 3 compared to the CI group. On days 1, 7, and 10, GSH-Px activity was lower than the DM group, and on day 10 and month 3, it was lower than the CI group. Phosphorylation of GSK-3β was decreased on days 7 and 10 compared to the DM group and was decreased from day 1 to month 3 compared to the CI group.

Conclusion: In the present study, we demonstrated that the oxidative stress in peripheral lymphocytes of DM patients complicated with CI was stronger, and the GSK-3 activity was higher. It suggested that oxidative stress might enhance the GSK-3 activity, which might provide a diagnostic and therapeutic approach for DM complicated with CI, and targeting GSK-3 is a promising therapeutic target for the treatment of type 2 diabetes and its complications.

Observational studies have shown an association between childhood sunburn occasions (CSOs) and melanoma in situ (MIS). However, these studies have shown contradictory results. Here, we used a two-sample Mendelian randomization (MR) method to make a causal inference between CSOs and melanoma at the genetic level. Based on the publicly available genome-wide association study summary data, including childhood sunburn (n = 346,955) and MIS (n = 218,792), the inverse-variance weighted (IVW) method of the random effects model was used, supplemented by the MR-Egger method, the weighted median method, and the weighted mode method. IVW results showed a 2.58-fold increased risk of melanoma development for each standard deviation increase in CSOs (odds ratio [OR] = 3.58; 95% confidence interval [CI]: 1.68-7.64; P = 1.00 × 10^-3), with the MR-Egger (OR = 4.76, 95% CI: 1.65-13.75, P = 5.60 × 10^-3), weighted median (OR = 4.89, 95% CI: 1.62-14.76, P = 4.90 × 10^-3), and weighted mode (OR = 6.26, 95% CI: 2.49-15.77, P = 3.00 × 10^-4) supporting the results. Furthermore, both the funnel plot and the MR-Egger intercepts showed the absence of directional pleiotropy between childhood sunburn and MIS. Our study confirmed that CSOs increase the risk of melanoma development.

Background: High body mass index (BMI) is a significant risk factor for non-communicable diseases; however, its impact on disease burden in China remains understudied. This study aimed to analyze trends in the burden of type 2 diabetes mellitus (T2DM), stroke, and hypertensive heart disease (HHD) attributable to high BMI in China from 1990 to 2019.

Methods: We utilized data from the Global Burden of Disease 2019 study, quantifying disease burden through years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life years (DALYs). Joinpoint regression analysis was employed to determine temporal trends.

Results: The study revealed distinct gender-specific temporal trends. Men exhibited a consistent increase in disease burden across all three conditions. Women showed more nuanced patterns: a gradual rise in T2DM burden, an inverted U-shaped trend for stroke, and a U-shaped trend for HHD in terms of age-standardized DALYs. Age-specific analysis demonstrated that the burden of T2DM and stroke peaked in the 70-74-year age group, whereas HHD-related DALYs continued to increase with advancing age.

Conclusions: Our findings underscore the need for tailored obesity prevention and management strategies in Chinese healthcare settings, emphasizing early screening and intervention for high BMI, particularly in middle-aged and older adults.

Background: Septic shock is a clinical syndrome characterized by acute circulatory disturbance. Stroke is an acute cerebrovascular disease caused by brain tissue damage. However, the relationship of COX6C and NDUFB3 to them is unclear.

Method: The stroke dataset GSE58294 and the septic shock dataset GSE15491 were downloaded from the gene expression omnibus database. Screening of differentially expressed genes (DEGs), weighted gene co-expression network analysis, construction and analysis of protein-protein interaction network, functional enrichment analysis, gene set enrichment analysis, immune infiltration analysis, and comparative toxicogenomics database (CTD) analysis were performed. Gene expression heat map was drawn. TargetScan screened miRNAs regulating central DEGs.

Results: A total of 664 DEGs were obtained. Gene ontology analysis showed that they were mainly enriched in leukocyte activation, intracellular vesicle, neutrophil activation, and cytokine receptor activity. According to Kyoto Encyclopedia of Genes and Genomes analysis, they are mainly enriched in metabolic pathways, phagosomes, and Staphylococcus aureus infection. Core genes (UQCRQ, USMG5 [ATP5MD], COX6C, NDUFB3, ATP5L [ATP5MG], COX7C, NDUFA1, NDUFA4) were highly expressed in septic shock and stroke samples. CTD analysis found that eight core genes are associated with liver enlargement, inflammation, proliferation, fibrosis, and necrosis.

Conclusion: COX6C and NDUFB3 genes are highly expressed in septic shock and stroke. The higher the COX6C and NDUFB3 genes, the worse the prognosis.

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.