Frontiers in Endocrinology最新文献

{"title":"Universal nomogram for predicting referable diabetic retinopathy: a validated model for community and ophthalmic outpatient populations using easily accessible indicators.","authors":"Niu Dongling, Kang Ziwei, Sun Juanling, Zhang Li, Wang Chang, Lei Ting, Liu Hongli, Zhang Yanchun","doi":"10.3389/fendo.2025.1557166","DOIUrl":"10.3389/fendo.2025.1557166","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to develop and validate a universal nomogram for predicting referable diabetic retinopathy (RDR) in type 2 diabetes mellitus (T2DM) patients, using easily accessible clinical indicators for both community and ophthalmic outpatient populations.</p><p><strong>Methods: </strong>A cross-sectional study was conducted with 1,830 T2DM patients from 14 communities in Xi'an, Shaanxi, China. Participants completed questionnaires, underwent physical exams, and ophthalmic assessments. Univariate analysis and least absolute shrinkage and selection operator (LASSO) regression identified key predictors for RDR. A nomogram was developed using multivariable logistic regression. Model performance was evaluated through area under the curve (AUC), accuracy, precision, recall, F1 score, Youden index, calibration curves, and decision curve analysis (DCA). The dataset was split into training (80%) and test (20%) sets, with external validation using 123 T2DM outpatients from Shaanxi Eye Hospital.</p><p><strong>Results: </strong>Seven key predictors were identified: serum creatinine, urea nitrogen, urine glucose, HbA1c, urinary microalbumin, diabetes duration, and systolic blood pressure. The nomogram exhibited moderate predictive accuracy, with AUCs of 0.730 (95% CI: 0.691-0.759), 0.767 (95% CI: 0.704-0.831), and 0.723 (95% CI: 0.610-0.835) for the training, test, and external validation sets, respectively. DCA showed that using the model is beneficial for threshold probabilities between 8% and 72%, supporting its broad clinical utility.</p><p><strong>Conclusion: </strong>This nomogram, based on readily available clinical indicators, provides a reliable and scalable tool for predicting RDR risk in both community and ophthalmic settings. It offers a practical solution for early detection and personalized management of RDR, with broad applicability and clinical potential.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1557166"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychological symptoms in perimenarcheal adolescents: association with PCOS risk factors.","authors":"Heidi Vanden Brink, Kathleen C McCormick, Marla E Lujan, Jane Chang, Lisa Ipp, Erika L Mudrak, Anisah Alladeen, Hannah Lamar, Joy Y Kim, Jane Mendle","doi":"10.3389/fendo.2025.1551958","DOIUrl":"10.3389/fendo.2025.1551958","url":null,"abstract":"<p><strong>Introduction: </strong>PCOS is linked with disproportionately high rates of depression and anxiety that significantly compromise quality of life and pose problems for treatment eligibility and adherence. The overarching objective of the proposed manuscript is to define the presence and severity of psychological symptoms in peri-menarcheal adolescents, and their association with well-described risk-factors for future PCOS.</p><p><strong>Methods: </strong>Fifty-two pre- and early post-menarcheal participants underwent a non-fasting blood draw to measure reproductive hormones (Anti-Mullerian Hormone (AMH), Luteinizing Hormone (LH), Follicle Stimulating Hormone (FSH), Total Testosterone, Sex Hormone Binding Globulin (SHBG) and HbA1c, anthropometry, menstrual history (if post-menarcheal), and a series of surveys to evaluate depression (CES-DC), anxiety (MASC) and, as a novel approach, rumination, which is a transdiagnostic psychological process and early prodromal risk for psychological disorders. Parents/legal guardians completed a demographics survey. Random Forest analysis was used to predict depression, anxiety, and rumination from a predetermined set of variables in this participant sample.</p><p><strong>Results: </strong>The overall R² for depression, anxiety, and rumination from the random forest model were 0.557, 0.555, and 0.597, respectively, suggesting overall good explanatory power for psychological outcomes. Parent education (Portion Sum of Squares (SS) = 11.4%) followed by AMH (Portion SS = 10.9%) and waist-hip-ratio (WHR) (Portion SS = 9.2%) were the most important variables in predicting depression. LH: FSH ratio was the most important variable in the dataset used to differentiate participants along the observed anxiety score continuum (Portion SS = 0.112 (11%) followed by HbA1c (Portion SS = 8.1%) and WHR (Portion SS = 7.9%). SHBG was the most frequently identified variable to differentiate participants reporting rumination (Portion SS = 13.3%) followed by Free Androgen Index (Portion SS = 6.9%) and WHR (Portion SS = 6.9%). Adolescents at high risk for progression to PCOS may already experience psychological vulnerabilities prior to a clinical diagnosis or full manifestation of PCOS. Our study findings highlight PCOS as a lifelong, multifaceted health condition with ramifications earlier than commonly documented.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1551958"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between glycemic variability and acute kidney injury incidence in patients with cerebral infarction: an analysis of the MIMIC-IV database.","authors":"Yiming Hua, Ze Chen, Lele Cheng, Ning Ding, Yifei Xie, Hao Wu, Huaizhi Jing, Yu Xu, Yue Wu, Beidi Lan","doi":"10.3389/fendo.2025.1615051","DOIUrl":"10.3389/fendo.2025.1615051","url":null,"abstract":"<p><strong>Introduction: </strong>Glycemic variability (GV) is an increasingly important predictive indicator of vascular occlusion-related complications. Studies have demonstrated that a higher GV is associated with poor outcomes in patients with cerebral infarction (CI). The prognostic utility of GV in CI patients for predicting acute kidney injury (AKI) remains inadequately characterized. This investigation systematically examines the pathophysiological relationship between acute glycemic fluctuations and AKI development in CI populations, with particular emphasis on temporal patterns of glucose dysregulation.</p><p><strong>Methods: </strong>This retrospective cohort analysis utilized data from the MIMIC-IV database, categorizing CI patients into quartiles based on GV metrics. Primary outcomes included AKI incidence and renal replacement therapy (RRT) initiation, with in-hospital mortality designated as the secondary endpoint. Analytical methodologies employed Kaplan-Meier survival curves with log-rank testing, multivariable-adjusted Cox proportional hazards regression, and logistic regression modeling to evaluate GV-AKI associations while controlling for critical confounders.</p><p><strong>Results: </strong>The analytical cohort comprised 3,343 critically ill individuals extracted from the MIMIC-IV database. Kaplan-Meier curve analysis demonstrated progressively elevated cumulative risks of AKI development, RRT requirement, and in-hospital mortality among individuals with heightened GV. Following multivariable adjustment, logistic regression models and Cox proportional hazards analyses confirmed GV as an independent predictor of AKI progression, RRT dependency, and mortality risk in cerebral infarction patients.</p><p><strong>Conclusion: </strong>This investigation identifies GV as an independent prognostic determinant for AKI development in cerebral infarction patients. GV demonstrates clinical utility as a biomarker for stratifying AKI risk in this population.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1615051"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The potential role of nitrate, a nitric oxide donor, in the prevention and treatment of diabetic osteoporosis.","authors":"Sajad Jeddi, Khosrow Kashfi, Asghar Ghasemi","doi":"10.3389/fendo.2025.1480838","DOIUrl":"10.3389/fendo.2025.1480838","url":null,"abstract":"<p><p>Approximately 28% of individuals with diabetes have osteoporosis. Diabetoporosis, which refers to the diabetes-related decrease in bone quality and quantity, increases the risk of osteoporotic fractures by 600-700% in individuals with type 1 diabetes (T1D) and by 38-70% in those with type 2 diabetes (T2D) compared to non-diabetic individuals. Decreased nitric oxide (NO) bioavailability contributes to diabetoporosis. This review summarizes the potential role of nitrate as a NO donor in preventing and treating diabetic osteoporosis. Evidence suggests that organic and inorganic nitrates have anti-osteoporotic effects in animal models of osteoporosis, as demonstrated by increasing bone mineral density (BMD, 3-42%) and bone weight (6-160%). Observational human studies indicate a lower fracture risk (6-17%) and a higher BMD (3-5%) following organic nitrate administration. Similar protective effects (7-74% reduction in fracture risk and 8-84% increase in BMD) have been observed with nitrate-rich diets. Randomized controlled trials have also shown that nitrate increases circulating bone formation markers; however, no effect on fracture risk has been reported, and increased BMD (8.8%) was reported only in one study. Nitrate converts to nitrite and then to NO (exogenous NO), increasing NO bioavailability in bone. In addition, nitrate increases the expression of endothelial NO synthase (eNOS), thereby increasing the endogenous NO in bone. Nitrate-derived NO promotes bone formation and reduces bone resorption via the NO/cyclic guanosine monophosphate (cGMP)/protein kinase G (PKG) signaling pathway. In addition to increasing NO availability, nitrate may enhance plasma insulin levels, reduce hyperglycemia, and improve insulin resistance in diabetes, further contributing to nitrates' anti-osteoporotic effects in diabetic bone. In conclusion, NO-based interventions such as nitrate may have a potential role in preventing and treating diabetoporosis.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1480838"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197922/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of gender affirming hormone therapy with testosterone on renal function of assigned female at birth transgender people: a meta-analysis.","authors":"Daniele Tienforti, Luca Spagnolo, Luca Piscitani, Camilla Tonni, Vittoria Donatelli, Giuliana Cordeschi, Marco Giorgio Baroni, Arcangelo Barbonetti","doi":"10.3389/fendo.2025.1537838","DOIUrl":"10.3389/fendo.2025.1537838","url":null,"abstract":"<p><strong>Objective: </strong>The impact of testosterone-based gender affirming hormone therapy (T-GAHT) on kidney function in transgender individuals assigned female at birth (AFAB) remains a matter of clinical uncertainty and debate. This study aimed to quantify through a meta-analytical approach the changes in estimated glomerular filtration rate (eGFR), a widely used clinical parameter that reflects how efficiently the kidneys filter waste products from the blood, and in secondary markers of kidney functions in this population during 24 months of GAHT. The eGFR was calculated using the CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) equation, which estimates kidney filtration based on serum creatinine, age, and sex.</p><p><strong>Methods: </strong>A thorough search of MEDLINE, COCHRANE LIBRARY, SCOPUS and WEB OF SCIENCE databases was carried out to identify suitable studies. Quality of the articles was scored using the Effective Public Health Practice Project. Data were combined using random effects models and the between-study heterogeneity was assessed using Cochrane's Q and I².</p><p><strong>Results: </strong>Twenty included studies provided information about an overall sample of 2380 individuals. The pooled estimates documented a significant decrease in eGFR (CKD-EPI equation) at 6 and 12 months with respect to baseline, using the attributed (female) gender. When the CKD-EPI equation was referred to the perceived (male) gender, eGFR significantly decreased after 12 months but not after 6 months of T-GAHT. The trend of eGFR values showed a transient decline during the first year of therapy, followed by stabilization at 18 and 24 months. This pattern is likely attributable to increased creatinine production due to testosterone-induced gains in muscle mass, rather than to a true decline in kidney function. Among the secondary outcomes, pooled estimates revealed significant increases of creatinine and uric acid levels at all follow-up times. On the contrary, blood urea nitrogen (BUN), a waste product filtered by the kidneys and commonly used to assess renal function, did not change significantly after either 6 months or 12 months of T-GAHT.</p><p><strong>Conclusions: </strong>The influence of T-GAHT on eGFR in the first two years in healthy, young AFAB transgender individuals appears to be statistically significant, but is likely not clinically relevant. This interpretation is supported by the stability of BUN levels and the absence of adverse renal events in the included studies, suggesting preserved kidney function despite changes in creatinine-based estimates. Further research is warranted to identify more accurate tools for evaluating kidney function in this population, particularly during the early months of treatment or in individuals with pre-existing renal conditions.</p><p><strong>Systematic review registration: </strong>https://www.crd.york.ac.uk/prospero/, identifier CRD42024596106.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1537838"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12198172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative analysis of convolutional neural networks and traditional machine learning models for IVF live birth prediction: a retrospective analysis of 48514 IVF cycles and an evaluation of deployment feasibility in resource-constrained settings.","authors":"Yu Liu, Yi Wang, Kai Huang, Hao Shi, Hang Xin, Shanjun Dai, Jinhao Liu, Xinhong Yang, Jianyuan Song, Fuli Zhang, Yihong Guo","doi":"10.3389/fendo.2025.1556681","DOIUrl":"10.3389/fendo.2025.1556681","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the predictive performance of a convolutional neural network for analyzing electronic medical records in assisted reproductive therapy and to compare its accuracy and interpretability with traditional machine learning models. The study also explores the feasibility of deploying such models in resource-limited clinical settings.</p><p><strong>Design: </strong>Retrospective cohort study based on EMR data using five models: CNN, Naïve Bayes, Random Forest, Decision Tree, and Feedforward Neural Network. Feature importance and model interpretability were evaluated using SHAP.</p><p><strong>Setting: </strong>First Hospital of Zhengzhou University.</p><p><strong>Population: </strong>48,514 fresh IVF cycles from August 2009 to May 2018.</p><p><strong>Methods: </strong>Preprocessed EMR data were used to train and evaluate five classification models predicting live birth outcomes. Stratified 5-fold cross-validation was performed for robust performance estimation. ROC curves and AUC values were used for comparative evaluation.</p><p><strong>Main outcome measure: </strong>Live birth.</p><p><strong>Results: </strong>The CNN model achieved an accuracy of 0.9394 ± 0.0013, AUC of 0.8899 ± 0.0032, precision of 0.9348 ± 0.0018, recall of 0.9993 ± 0.0012, and F1 score of 0.9660 ± 0.0007. Its performance was comparable to Random Forest (accuracy: 0.9406 ± 0.0017, AUC: 0.9734 ± 0.0012), and superior to Decision Tree, Naïve Bayes, and Feedforward Neural Network in recall and robustness. CNN demonstrated stable convergence during training, and SHAP-based interpretation highlighted maternal age, BMI, antral follicle count, and gonadotropin dosage as the top predictors for live birth outcome.</p><p><strong>Conclusions: </strong>With appropriate input transformation, CNNs can effectively model structured EMR data and offer predictive performance comparable to ensemble methods. Their scalability, high sensitivity, and interpretability make CNNs promising candidates for integration into clinical workflows, particularly in environments with limited computational resources.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1556681"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cost-effective screening strategy to prevent venous thromboembolism in combined oral contraceptive users.","authors":"Jonathan Douxfils","doi":"10.3389/fendo.2025.1559162","DOIUrl":"10.3389/fendo.2025.1559162","url":null,"abstract":"<p><p>Venous thromboembolism (VTE), encompassing deep vein thrombosis (DVT) and pulmonary embolism (PE), is a leading cause of global morbidity and mortality, with a significant societal and economic burden. Combined oral contraceptives (COCs) increase VTE risk by 2- to 6-fold, resulting in approximately 22,925 cases annually in the European Economic Area (EEA). Despite the high associated healthcare costs, which may reach 2.5 billion EUR annually, current international guidelines, including those from the World Health Organization (WHO) and the Faculty of Sexual and Reproductive Healthcare (FSRH), discourage routine thrombophilia screening prior to COC prescription, citing low cost-effectiveness, low prevalence of thrombophilia, and potential unintended consequences, such as reduced contraceptive use. Recent advancements in screening technology challenge these guidelines. The normalized Activated Protein C sensitivity ratio (nAPCsr) assay, a low-cost tool capable of detecting both inherited thrombophilia and acquired COC-induced activated protein C (APC) resistance, offers a promising strategy for targeted screening. Economic models estimate that implementing nAPCsr-based screening could prevent up to 13,500 VTE cases annually, leading to 1.5 billion EUR in annual healthcare savings. Additionally, nAPCsr-guided contraceptive counseling enables personalized decision-making, directing high-risk women toward safer contraceptive options, such as progestin-only pills or COCs containing natural estrogens (estradiol or estetrol), which present a lower thrombotic risk. This manuscript emphasizes the necessity of updating current prevention strategies by integrating innovative screening tools like the nAPCsr assay. By addressing both direct healthcare costs and indirect costs related to productivity loss and long-term complications, such a strategy could improve patient safety, reduce the financial burden on healthcare systems, and promote equitable access to safer contraceptive methods. Furthermore, targeted screening could alleviate the underrepresentation of high-risk women in current cost estimates and significantly mitigate the societal impact of COC-associated VTE. In light of these findings, reconsidering current policy recommendations appears essential to facilitate evidence-based, cost-effective prevention of COC-related thrombotic events, ultimately enhancing public health outcomes.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1559162"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanistic study of quercetin in the treatment of thyroid cancer with diabetes based on network pharmacology and <i>in vitro</i> experiments.","authors":"Siyu Liu, Yujie Cai, Wenjing Chen, Xiao Yuan, Zhipeng He, Feng Lin","doi":"10.3389/fendo.2025.1537799","DOIUrl":"10.3389/fendo.2025.1537799","url":null,"abstract":"<p><strong>Introduction: </strong>Thyroid cancer (TC) stands as a prevalent malignancy within the global endocrine system, with its incidence notably exacerbated by the presence of diabetes. However, the specific relationship between TC and diabetes and promising treatment strategies that address both conditions simultaneously are still under exploration. Quercetin, herb medicine from traditional Chinese medicine (TCM), is widely used as an adjunctive therapy with Western medicine in the treatment of many diseases based on a wide range of biological effects. The objective of this study was to explore the efficacy of quercetin in treating TC with diabetes combining bioinformatics and network pharmacology.</p><p><strong>Methods: </strong>After multistep Cox proportional hazards regressions, we built a prognostic risk model for TC-diabetes and identified targets for quercetin in treating TC with diabetes. Molecular docking was employed to evaluate the binding affinities of quercetin with core targets, and <i>in vitro</i> experiments verified quercetin's targets and functions.</p><p><strong>Results: </strong>11 prognostic genes were included in the prediction model with a great performance in predicting the prognosis of TC-diabetic patients. 45 genes served as the targets of quercetin in treating TC with diabetes, among which, 5 core genes were screened as the most contributors. Through molecular docking, matrix metalloproteinase-3 (MMP3) was identified as the potential therapeutic target of quercetin. In vitro experiments have found that quercetin can inhibit the proliferation of thyroid cancer cells and the expression of MMP3 under high glucose conditions.</p><p><strong>Discussion: </strong>In summary, quercetin may suppress the progression of TC-diabetes by inhibiting the proliferation of thyroid cancer cells and the expression of MMP3.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1537799"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D deficiency and VDR <i>TaqI</i> polymorphism on diabetic nephropathy risk among type 2 diabetes patients.","authors":"Addisu Melake, Misganaw Asmamaw Mengstie","doi":"10.3389/fendo.2025.1567716","DOIUrl":"10.3389/fendo.2025.1567716","url":null,"abstract":"<p><strong>Background: </strong>Many studies have shown that vitamin D deficiency and vitamin D receptor TaqI gene polymorphisms are associated with susceptibility to diabetic nephropathy in various populations. The objective of this study was to determine the impact of vitamin D deficiency and vitamin D receptor <i>TaqI</i> gene polymorphism on the risk of diabetic nephropathy complications in T2DM at the Debre Tabor Comprehensive Specialized Hospital, Northwest Ethiopia.</p><p><strong>Methods: </strong>A total of 210 participants, including 70 diabetic patients with nephropathy, 70 diabetic patients without nephropathy, and 70 healthy controls, participated in an age-and sex-matched hospital-based case-control study. Demographic and clinical data were assessed to determine the related risk factors. DNA was extracted from blood samples and subjected to polymerase chain reaction and agarose gel electrophoresis analysis to determine the <i>TaqI</i> genotypes.</p><p><strong>Results: </strong>Vitamin D deficiency was detected in our investigation, and it was much more prevalent in diabetic nephropathy patients than type 2 diabetic patients and controls (OR = 5.05, 95% CL = 2.03-12.53; <i>P <</i> 0.001). Moreover, both the <i>TaqI</i> tt genotype (OR: 2.48; 95% CL: 1.15-5.37; P=0.020) and t allele (OR: 1.70; 95% CL: 1.13-2.57; P=0.010) were substantially more prevalent in diabetic nephropathy patients than in type 2 diabetic patients and controls, indicating that it may be a major risk factor for the development of diabetic nephropathy.</p><p><strong>Conclusions: </strong>The findings point to a potential link between vitamin D deficiency and diabetic nephropathy complications. Moreover, <i>TaqI</i> gene polymorphisms have been linked to an increased risk of developing the disease in the Ethiopian population under study.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1567716"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methylation and gene expression patterns in adamantinomatous craniopharyngioma highlight a panel of genes associated with disease progression-free survival.","authors":"Junier Marrero-Gutiérrez, Ana Carolina Bueno, Clarissa Silva Martins, Rui Milton Patrício Silva-Júnior, Antônio Carlos Dos Santos, Marcelo Volpon Santos, Luiz Eduardo Wildemberg, Ximene Lima da Silva Antunes, Monica R Gadelha, Ayrton Custodio Moreira, Ricardo Zorzetto Nicoliello Vêncio, Sonir Roberto R Antonini, Margaret de Castro","doi":"10.3389/fendo.2025.1585618","DOIUrl":"10.3389/fendo.2025.1585618","url":null,"abstract":"<p><strong>Introduction: </strong>Over the past decade, advancements in next-generation sequencing have significantly enhanced our understanding of the molecular pathogenesis of adamantinomatous craniopharyngiomas (ACP).</p><p><strong>Objective: </strong>This study integrated methylome and transcriptome analyses in ACP samples to explore the potential interplay between DNA methylation and RNA expression signatures for diagnostic and prognostic applications in ACP patients.</p><p><strong>Methods: </strong>This cross-sectional study evaluated clinicopathological features, DNA methylation, and gene expression profiles in 15 patients with ACP (33% women, age range: 3-55 years, 53% diagnosed before 18 years) treated at Ribeirao Preto Medical School, University of São Paulo.</p><p><strong>Results: </strong>Multidimensional scaling and principal component analysis identified two distinct clusters (ACP-A: n=9, ACP-B: n=6) with consistent composition across DNA methylation and gene expression profiles. While most clinical and histopathological characteristics were similar between clusters, ACP-A exhibited a longer median progression-free survival. ACP-B showed a higher prevalence of hypomethylated probes in CGI sites, and 63% of differentially methylated positions (DMPs) located in gene body regions. Differential methylation patterns were categorized into Methyl-Set1 (hypomethylated in ACP-A and hypermethylated in ACP-B) and Methyl-Set2 (hypermethylated in ACP-A and hypomethylated in ACP-B). Clustering analyses based on the methylation levels of probes and expression levels of the stringently filtered 212- and 37-gene sets further confirmed these two distinct ACP subgroups. Functional enrichment analysis highlighted key roles in synaptic modulation, nervous system development, cell adhesion, as well as pathways linked to RAS signaling, GTPase activity, and membrane potential regulation.</p><p><strong>Conclusion: </strong>Although clinical characteristics were largely comparable between the clusters, ACP-B patients exhibited shorter median progression-free survival, suggesting a more aggressive phenotype. The higher prevalence of hypomethylation in ACP-B indicates increased transcriptional activation, potentially driving tumor aggressiveness. The strong concordance between methylation and transcriptomic data in the 212- and 37-gene sets underscores their potential as a clinically relevant molecular biomarker panel. These gene sets demonstrate robustness in distinguishing ACP clusters, making it a promising tool for clinical sample classification.</p>","PeriodicalId":12447,"journal":{"name":"Frontiers in Endocrinology","volume":"16 ","pages":"1585618"},"PeriodicalIF":3.9,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12197951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}