中南大学学报(医学版)最新文献

{"title":"Impact of interaction between individual genomes and preeclampsia on the severity of autism spectrum disorder symptoms.","authors":"Xiaomeng Wang, Dai Wu, Tengfei Luo, Weinü Fan, Jinchen Li","doi":"10.11817/j.issn.1672-7347.2024.240177","DOIUrl":"10.11817/j.issn.1672-7347.2024.240177","url":null,"abstract":"<p><strong>Objectives: </strong>Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Prior research suggests that genetic susceptibility and environmental exposures, such as maternal preeclampsia (PE) during pregnancy, play key roles in ASD pathogenesis. However, the specific effects of the interaction between genetic and environmental factors on ASD phenotype severity remain unclear. This study aims to investigate how interactions between de novo variants (DNVs) and common variants in individual genomes and PE exposure affect ASD symptom severity by constructing a gene-environment model.</p><p><strong>Methods: </strong>Phenotypic data were obtained from the Simons Simplex Collection (SSC) database for idiopathic ASD patients aged 4-18. Subjects were divided based on maternal PE status: PE<sup>+</sup> (exposed) and PE<sup>-</sup> (unexposed) groups. Those without DNVs were divided into DNV<sup>-</sup>PE<sup>+</sup> and DNV<sup>-</sup>PE<sup>-</sup> groups, and those with DNVs into DNV<sup>+</sup>PE<sup>+</sup> and DNV<sup>+</sup>PE<sup>-</sup> groups. Based on polygenic risk scores (PRS), subjects below the median were classified into PRS<sup>low</sup>PE<sup>+</sup> and PRS<sup>low</sup>PE<sup>-</sup> groups, and those at or above the median into PRS<sup>high</sup>PE<sup>+</sup> and PRS<sup>high</sup>PE<sup>-</sup> groups. Core ASD phenotypic assessed included adaptive and cognitive abilities, social reciprocity, language and communication skills, and repetitive behaviors. Adaptive and cognitive abilities were scored using adaptive behavior composite scores from the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), along with verbal intelligence quotient (VIQ) and nonverbal intelligence quotient (NVIQ) scores from the SSC database. Social reciprocity abilities were measured using the social domain scores from the Autism Diagnostic Interview-Revised (ADI-R SD), social affective domain scores from the Autism Diagnostic Observation Schedule (ADOS SA), and normalized scores from the Social Responsiveness Scale (SRS). Language and communication abilities were assessed through verbal communication domain (ADI-R VC), nonverbal communication domain (ADI-R NVC) scores from ADI-R, and the communication and social domain scores from ADOS (ADOS CS). Repetitive behaviors were measured using the restricted and repetitive behaviors domain scores from ADI-R (ADI-R RRB), the repetitive domain scores from ADOS (ADOS REP), and the overall scores from the Repetitive Behavior Scale-Revised (RBS-R). Linear regression models were constructed to explore the impact of PE exposure and its interaction with individual genomes (including DNVs and common variants) on core ASD phenotypes. Additionally, ASD candidate genes associated with DNVs underwent gene ontology (GO) enrichment analysis via Metascape, and temporal and spatial gene expression patterns were examined using RNA sequencing (RNA-seq) data from the BrainSpan database.</p><p><strong>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 8","pages":"1187-1199"},"PeriodicalIF":0.0,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11628217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of <i>WT1</i> gene<b>-</b>guided pre<b>-</b>emptive therapy for prevention of relapse in acute myeloid leukemia after transplantation and its optimal intervention threshold.","authors":"Peng Fang, Yin Gao, Hongya Xin, Linxin Liu, Yi Liu, Yajing Xu, Yan Chen","doi":"10.11817/j.issn.1672-7347.2024.240351","DOIUrl":"10.11817/j.issn.1672-7347.2024.240351","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;Monitoring minimal residual disease (MRD) and timely intervention are effective strategies for preventing relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in adult acute myeloid leukemia (AML). The &lt;i&gt;WT1&lt;/i&gt; gene, a pan-leukemia marker, can be used as an indicator for MRD monitoring in AML patients. Currently, there is no unified standard for the intervention timing or treatment threshold based on &lt;i&gt;WT1&lt;/i&gt; gene detection after transplantation. This study aims to evaluate the clinical value of &lt;i&gt;WT1&lt;/i&gt; gene-guided preemptive therapy and further explore its optimal intervention threshold.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Data of adult AML patients with intermediate or high-risk cytogenetics who underwent allo-HSCT between January 2014 and June 2020 at the Department of Hematology, Xiangya Hospital, Central South University, were retrospectively collected. All patients had &lt;i&gt;WT1&lt;/i&gt; gene expression data within three years post-transplantation. We compared the outcomes of &lt;i&gt;WT1&lt;/i&gt;-positive patients who received preemptive therapy with those who did not, and both groups with &lt;i&gt;WT1&lt;/i&gt;-negative patients. The endpoints analyzed included cumulative incidence of relapse (CIR), disease-free survival (DFS) rate, overall survival (OS) rate, and non-relapse mortality (NRM) rate. Data of patients who did not receive any intervention were included to analyze factors that might influence prognosis. Univariate analysis was performed using factors such as age, gender, transplantation type,cytogenetic risk stratification, pre-transplant disease status, pre- and post-transplant &lt;i&gt;WT1&lt;/i&gt; levels, and donor gender; factors with &lt;i&gt;P&lt;/i&gt;&lt;0.10 in univariate analysis were further included in a Cox regression model for multivariate analysis. Receiver operating characteristic (ROC) curve analysis was used to determine the optimal cut-off value of &lt;i&gt;WT1&lt;/i&gt; gene expression for predicting relapse.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 165 AML patients were included, of whom 86 had &lt;i&gt;WT1&lt;/i&gt; gene positivity within three years post-transplantation. Among these, 58 received preemptive therapy and 28 did not. Compared with &lt;i&gt;WT1&lt;/i&gt;-negative patients, those &lt;i&gt;WT1&lt;/i&gt;-positive patients who did not receive preemptive therapy had significantly higher 5-year CIR (42.9% vs 10.5%, &lt;i&gt;P&lt;/i&gt;&lt;0.001), lower 5-year DFS (50.0% vs. 80.7%, &lt;i&gt;P&lt;/i&gt;=0.001), and lower 5-year OS (60.7% vs 82.8%, &lt;i&gt;P&lt;/i&gt;=0.018), while the 5-year NRM rates were not significantly different (7.1% vs 8.9%, &lt;i&gt;P&lt;/i&gt;=0.744). For patients who received preemptive therapy, no significant differences in these outcomes were observed (all &lt;i&gt;P&lt;/i&gt;&gt;0.05). Multivariate analysis revealed that post-transplantation &lt;i&gt;WT1&lt;/i&gt; gene positivity was a poor prognostic factor for AML patients (CIR: &lt;i&gt;HR&lt;/i&gt;=6.24, &lt;i&gt;P&lt;/i&gt;=0.000 1; DFS: &lt;i&gt;HR&lt;/i&gt;=2.77, &lt;i&gt;P&lt;/i&gt;=0.009 6). ROC curve analysis indicated that the area under the curve (AUC) for &lt;i&gt;WT1&lt;/i&gt; gene exp","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1120-1129"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956189","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperthyroidism crisis and complex pancytopenia: A case report.","authors":"Xiaotian Lei, Weiling Leng, Min Long, Laiping Xie, Liu Chen","doi":"10.11817/j.issn.1672-7347.2024.240372","DOIUrl":"10.11817/j.issn.1672-7347.2024.240372","url":null,"abstract":"<p><p>Antithyroid drugs can cause neutropenia or agranulocytosis, rarely pancytopenia in hyperthyroidism therapy. The treatment is difficult and lethality is high when granulocytopenia or pancytopenia combined with hyperthyroidism crisis. First Affiliated Hospital of Army Medical University treated a patient who had pancytopenia caused by methimazole with systemic lupus erythematosus, secondary hyperthyroidism crisis and agranulocytosis.We gave the reasonable treatment in time, such as anti-infection, stimulating granulocyopoiesis, compound iodine solution to control thyroid function, controlled the disease effectively and saved the patient's life. Early detection and identification of possible causes of pancytopenia and dynamic adjustment of treatment plan show great significance for patients with hyperthyroidism and severe pancytopenia.</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1089-1094"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495974/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of a 4<b>-</b>week internet<b>-</b>delivered mindfulness<b>-</b>based cancer recovery program on anxiety, depression, and mindfulness among patients with breast cancer.","authors":"Can Gu, Yunyun Peng, Yueyang Peng, Sulan Lin, Juqin Yao, Xing Chen","doi":"10.11817/j.issn.1672-7347.2024.240028","DOIUrl":"10.11817/j.issn.1672-7347.2024.240028","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;The efficacy of monotherapy in alleviating psychological disorders like anxiety and depression among breast cancer patients is suboptimal, necessitating effective psychosocial interventions. Mindfulness-based interventions have been shown to mitigate anxiety-depression symptoms and encourage beneficial behaviors. The online mindfulness-based cancer recovery (MBCR) offers flexibility and guides practice across various settings, facilitating full patient engagement. This study amis to analyze the impact of a 4-week internet-delivered mindfulness-based cancer recovery program on anxiety, depression, and mindfulness among Chinese patients with breast cancer, and to evaluate the degree of satisfaction breast cancer patients experienced after participating in this program.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This study utilized a two-armed, parallel, randomized controlled trial design. A total of 103 patients with breast cancer from June 2020 to January 2021 in the ward of Breast and Thyroid Surgery of a tertiary hospital in Changsha, Hunan Province were selected and randomly assigned to an intervention group (&lt;i&gt;n&lt;/i&gt;=51) and a control group (&lt;i&gt;n&lt;/i&gt;=52). The intervention group participated in an internet-delivered mindfulness-based cancer recovery program, which was delivered once a week for 4 weeks. Meanwhile, the control group received weekly group health education for 4 weeks. The outcomes of hospital anxiety and depression scale and mindfulness Attention Awareness Scale were evaluated at 3 distinct time points: Baseline (T1), postintervention (T2), and 1-month follow-up (T3). The satisfaction questionnaire of 4-week mindful cancer rehabilitation training program was used at T2 to evaluate patients' satisfaction with the intervention program. Generalized estimation equations were used to assess differences in anxiety, depression and mindfulness levels between groups before and after the intervention.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;There were no statistically significant differences in demographic data and outcome index scores between the 2 groups at T1 (all &lt;i&gt;P&lt;/i&gt;&gt;0.05), indicating that the 2 groups were comparable. The generalized estimating equation analyses showed that the intervention group had significantly better improvement in outcomes compared to the control group, particularly for anxiety (T2 &lt;i&gt;β&lt;/i&gt;=-1.30, 95% &lt;i&gt;CI&lt;/i&gt; -1.87 to -0.72; T3 &lt;i&gt;β&lt;/i&gt;=-2.78, 95% &lt;i&gt;CI&lt;/i&gt; -3.51 to -2.05) and depression (T2 &lt;i&gt;β&lt;/i&gt;=-1.92, 95% &lt;i&gt;CI&lt;/i&gt; -2.78 to -1.06; T3 &lt;i&gt;β&lt;/i&gt;=-2.96, 95% &lt;i&gt;CI&lt;/i&gt; -4.05 to -1.87; all &lt;i&gt;P&lt;/i&gt;&lt;0.001). Moreover, the mindfulness score in the intervention group was significantly higher than that in the control group at T2 (&lt;i&gt;β&lt;/i&gt;=3.23, 95% &lt;i&gt;CI&lt;/i&gt; 0.73 to 5.72) and T3 (&lt;i&gt;β&lt;/i&gt;=8.06, 95% &lt;i&gt;CI&lt;/i&gt; 4.37 to 11.75; both &lt;i&gt;P&lt;/i&gt;&lt;0.05). In addition, patients in the intervention group were satisfied with the 4-week mindfulness-based cancer recovery intervention and teaching/learning activities ","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1130-1142"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of type 2 diabetes mellitus complicated with IgG4-related retroperitoneal fibrosis and a literature review.","authors":"Dan Ma, Junlin Wei, Honghui He, Wenjun Yang, Zhaohui Mo, Fang Wang","doi":"10.11817/j.issn.1672-7347.2024.240421","DOIUrl":"10.11817/j.issn.1672-7347.2024.240421","url":null,"abstract":"<p><p>IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory disorder that can affect multiple organs throughout the body, predominantly in middle-aged and elderly males, with a male-to-female ratio of 2꞉1 to 3꞉1. IgG4-related retroperitoneal fibrosis (IgG4-RPF), a rare subtype of IgG4-RD, has an unclear etiology, and its comorbidity with type 2 diabetes mellitus is also uncommon. A lack of awareness of this condition in clinical practice can easily lead to misdiagnosis. On July 14, 2016, the Third Xiangya Hospital of Central South University admitted a patient with type 2 diabetes mellitus complicated by IgG4-RPF. Following comprehensive treatment, including blood glucose and blood pressure control, kidney protection, circulation improvement, and the use of prednisone, the patient's condition significantly improved. The retroperitoneal fibrotic mass decreased in size, renal function improved, and serum IgG4 levels decreased. After 8 years of follow-up, the condition did not recur. Analyzing this case in conjunction with a literature review suggests that the development of IgG4-RPF in diabetic patients may be related to chronic inflammation from metabolic syndrome and atherosclerotic plaques associated with long-standing diabetes. This provides valuable clinical ideas for clinicians in diagnosing and treating this rare comorbidity.</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1073-1081"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of M1/M2 macrophages in pain modulation.","authors":"Xiaoye Zhu, Saige Chen, Yongqiu Xie, Zhigang Cheng, Xiaoyan Zhu, Qulian Guo","doi":"10.11817/j.issn.1672-7347.2024.240017","DOIUrl":"10.11817/j.issn.1672-7347.2024.240017","url":null,"abstract":"<p><p>Pain is a signal of inflammation that can have both protective and pathogenic effects. Macrophages, significant components of the immune system, play crucial roles in the occurrence and development of pain, particularly in neuroimmune communication. Macrophages exhibit plasticity and heterogeneity, adopting either pro-inflammatory M1 or anti-inflammatory M2 phenotypes depending on their functional orientation. Recent research highlights the contribution of macrophages to pain dynamics by undergoing changes in their functional polarity, leading to macrophage activation, tissue infiltration, and cytokine secretion. M1 macrophages release pro-inflammatory mediators that are not only essential in defending against infections, but also contributing to tissue damage and the elicitation of pain. However, this process can be counteracted by M2 macrophages, facilitating pain relief through producing anti-inflammatory cytokines and opioid peptides or enhancing efferocytosis. M1 and M2 macrophages play important roles in both the initiation and mitigation of pain.</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1155-1163"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alectinib treatment for 2 non-small cell lung carcinoma patients carrying different novel <i>ALK</i> fusions.","authors":"Qingchun Liang, Namei Li, Xiaohong Li","doi":"10.11817/j.issn.1672-7347.2024.230503","DOIUrl":"10.11817/j.issn.1672-7347.2024.230503","url":null,"abstract":"<p><p>The genomic fusions of the anaplastic lymphoma kinase (<i>ALK</i>) gene have been widely recognized as effective therapeutic targets for non-small cell lung carcinoma (NSCLC). The Second Xiangya Hospital of Central South University has treated 2 NSCLC patients with 2 distinct novel <i>ALK</i> gene fusions. Case 1 was a 55-year-old male with a solid nodule located in the right hilar lobe on enhanced CT scan. Case 2 was a 47-year-old female with enhanced CT showing involvement of the left upper lobe of lung. Histopathological examination of tumor tissues confirmed lung adenocarcinoma in both cases. Immunohistochemical (IHC) staining demonstrated positivity for thyroid transcription factor-1 (TTF-1) and ALK-D5F3 in tumor cells, while negativity for P40. The next-generation sequencing (NGS) tests identified a <i>PNPT1</i>-<i>ALK</i> (Exon22:Exon20) fusion variant in case 1 and a <i>TCEAL2</i>-<i>ALK</i> (Exon3:Exon19) fusion variant in case 2. The <i>TCEAL2</i>-<i>ALK</i> fusion was further confirmed by amplification refractory mutation system (ARMS)-PCR at the mRNA level. Both patients were treated with oral alectinib at a dosage of 600 mg twice daily. The tumors in both patients were significantly decreased after alectinib treatment, achieving partial response. At the time of submission, there was an absence of disease progression and the progression-free survival (PFS) had surpassed 1 year. It offered compelling evidences that the individuals with NSCLC and harboring either a <i>PNPT1</i>-<i>ALK</i> (Exon22:Exon20) fusion or a <i>TCEAL2</i>-<i>ALK</i> (Exon3:Exon19) fusion, experience favorable therapeutic outcomes through the administration of alectinib. This study expands the known <i>ALK</i> fusion variants database and supports the precision treatment of NSCLC using <i>ALK</i> tyrosine kinase inhibitors (TKIs).</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1164-1172"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between polymorphisms of <i>SIRT2</i> gene and renal injury in patients with type 2 diabetes mellitus.","authors":"Su Wu, Bin Yi, Yali Dai, Xiangyu Liao, Juan Peng, Aimei Li","doi":"10.11817/j.issn.1672-7347.2024.240186","DOIUrl":"10.11817/j.issn.1672-7347.2024.240186","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;Genetic factors play an important role in the pathogenesis of diabetic kidney disease (DKD). Studies have shown that &lt;i&gt;SIRT2&lt;/i&gt; gene polymorphism is associated with the pathogenesis of type 2 diabetes mellitus (T2DM), but its role in DKD remains unclear. This study aims to analyze the distribution of alleles and genotypes of &lt;i&gt;SIRT2&lt;/i&gt; gene in patients with T2DM, and investigate the association between &lt;i&gt;SIRT2&lt;/i&gt; genetic polymorphism and DKD susceptibility in T2DM patients, which may provide new ideas for the pathogenesis of DKD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A toal of 205 T2DM patients who receiving treatment in the Third Xiangya Hospital of Central South University were divided into a DKD group (&lt;i&gt;n&lt;/i&gt;=100) and a DM group (&lt;i&gt;n&lt;/i&gt;=105) according to the presence of kidney injury, and 100 healthy volunteers were selected as NC group. Clinical data of the subjects were collected and estimated glomerular filtration rate (eGFR) were calculated. Genomic DNA was extracted and the genotypes of single nucleotide polymorphism (SNP) loci (rs11879029, rs11879010, and rs2241703) were determined using Sanger chain termination method. The genotype/allele frequencies among the 3 groups were compared. Logistic regression was used to analyze the correlation between SNP locus genotype of &lt;i&gt;SIRT2&lt;/i&gt; gene and risk of DKD in T2DM patients. According to the genotypes of rs11879029/rs11879010, T2DM patients were divided into a GG1/GG2 group, a GA1/GA2 group, and an AA1/AA2 group, and the clinical data were compared. Linkage disequilibrium analysis and haplotype analysis were performed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The genotype distribution and allele frequencies of the rs11879029 and rs11879010 loci in the DKD group were significantly different in comparison with the NC and DM groups (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). For rs2241703, there were no differences in genotype and allele frequencies (all &lt;i&gt;P&lt;/i&gt;&gt;0.05). After correcting by age, gender, systolic blood pressure, duration of diabetes, glycosylated hemoglobin, and serum albumin, rs11879029 and rs11879010 genotype were associated with DKD susceptibility in T2DM patients. Carriers of rs11879029 genotype AA were 6.27 times more likely to have DKD than carriers of genotype GG. And carriers of rs11879010 genotype AA were 4.72 times more likely to have DKD than carriers of genotype GG. The eGFR levels in the AA1/AA2 groups were significantly lower than those in the GG1/GG2 groups (both &lt;i&gt;P&lt;/i&gt;&lt;0.05). Analysis of linkage disequilibrium showed complete linkage disequilibrium existed between &lt;i&gt;SIRT2&lt;/i&gt; rs11879029 and rs11879010, and the 2 SNPs (rs11879029 and rs11879010) were in strong linkage disequilibrium with rs2241703. Monotype GGG reduced the risk of DKD in T2DM patients (&lt;i&gt;OR&lt;/i&gt;=0.53, 95% &lt;i&gt;CI&lt;/i&gt; 0.35 to 0.81, &lt;i&gt;P&lt;/i&gt;=0.003), while haplotype AAG increased the risk of DKD in patients (&lt;i&gt;OR&lt;/i&gt;=1.80, 95% &lt;i&gt;CI&lt;/i&gt; 1.16 to 2.80, &lt;i&gt;P&lt;/i&gt;=0.008).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1005-1014"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation between serum adenosine deaminase levels and risk of diabetic foot ulcers in patients with type 2 diabetes mellitus.","authors":"Jing Wang, Ting Jiang, Shanshan Hu, Ling Zhou, Yanling Zheng, Wei Wang","doi":"10.11817/j.issn.1672-7347.2024.240297","DOIUrl":"10.11817/j.issn.1672-7347.2024.240297","url":null,"abstract":"<p><strong>Objectives: </strong>Adenosine deaminase (ADA) is a critical enzyme in the catabolism of adenosine acid during purine metabolism and plays a significant role in the diagnosis and monitoring of various diseases. This study aims to investigate the relationship between serum ADA levels and risk of diabetic foot ulcers (DFU) in patients with type 2 diabetes mellitus (T2DM), providing a clinical basis for the prevention and treatment of DFU.</p><p><strong>Methods: </strong>A retrospective study was conducted on 2 719 T2DM patients diagnosed at the Southwest Hospital of Army Medical University from January 2019 to January 2020. Patients were divided into a non-DFU group (<i>n</i>=1 952) and a DFU group (<i>n</i>=767) based on the presence of DFU. Serum ADA levels were collected, and participants were divided into quartiles: Q1, Q2, Q3, and Q4. Spearman correlation analysis and multivariate logistic regression were used to assess the relationship between serum ADA levels and DFU risk in T2DM patients. Additionally, changes in serum ADA levels among DFU patients with different Wagner grades were compared.</p><p><strong>Results: </strong>The prevalence of DFU in T2DM patients was 28.21%, and the prevalence increased with higher serum ADA levels. Multivariate-adjusted logistic regression analysis showed that for every 1-unit increase in serum ADA, the risk of DFU increased by 3% (<i>OR</i>=1.03, 95% <i>CI</i> 1.01 to 1.05, <i>P</i>=0.003). Compared with the Q1 group, the risk of DFU increased in the Q2 (<i>OR</i>=1.77, 95% <i>CI</i> 1.30 to 2.43, <i>P</i><0.001), Q3 (<i>OR</i>=2.11, 95% <i>CI</i> 1.54 to 2.89, <i>P</i><0.001), and Q4 (<i>OR</i>=2.27, 95% <i>CI</i> 1.64 to 3.16, <i>P</i><0.001) groups. Additionally, serum ADA levels increased with higher Wagner grades from 0 to 5 (<i>P</i><0.001).</p><p><strong>Conclusions: </strong>Elevated serum ADA levels in T2DM patients are associated with an increased risk of DFU, suggesting that serum ADA may play an important role in the development of DFU in T2DM patients.</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1015-1022"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanisms of RNA alternative splicing dysregulation in triple-negative breast cancer.","authors":"Ziyu Cao, Yingrui Li","doi":"10.11817/j.issn.1672-7347.2024.240434","DOIUrl":"10.11817/j.issn.1672-7347.2024.240434","url":null,"abstract":"<p><p>Triple-negative breast cancer (TNBC) is a highly aggressive breast cancer subtype with poor prognosis. RNA alternative splicing dysregulation plays a critical role in the initiation and progression of TNBC. This article systematically introduces the basic process of RNA splicing and then focuses on reviewing the aberrant alternative splicing events and their biological effects in TNBC: 1) Multiple splicing-related factors promote tumor cell proliferation and mediate chemotherapy resistance by regulating the alternative splicing of genes involved in cell survival and drug response; 2) dysregulation of splicing regulatory networks leads to altered splicing of multiple metastasis-related genes, promoting tumor invasion and metastasis; 3) aberrant alternative splicing events participate in tumor progression by affecting the expression of DNA damage repair genes; 4) dysregulation of alternative splicing is also involved in the regulation of tumor immune evasion and stem cell properties. A deeper understanding of the mechanisms underlying RNA alternative splicing dysregulation in TNBC is essential for elucidating its molecular pathology, identifying novel prognostic markers, and developing therapeutic strategies.</p>","PeriodicalId":39801,"journal":{"name":"中南大学学报(医学版)","volume":"49 7","pages":"1143-1154"},"PeriodicalIF":0.0,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11495985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}