Archives of Endocrinology Metabolism最新文献

{"title":"Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.","authors":"Aline Guimarães Faria, Luciana R Montenegro, Alexander Augusto Lima Jorge, Regina Matsunaga Martin, Maria Candida Barisson Villares Fragoso, Flavia R Tinano, Carlos E Seraphim, Ana Pinheiro Machado Canton, Larissa G Gomes, Gabriel A Martos-Moreno, Irene Tarjuelo García, Atilano Carcavilla, Mireia Tirado-Capistros, Nadja Cristhina Souza-Pinto, Jesús Argente, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Vinicius Nahime Brito","doi":"10.20945/2359-4292-2024-0459","DOIUrl":"10.20945/2359-4292-2024-0459","url":null,"abstract":"<p><strong>Objective: </strong>To describe the follow-up of girls with peripheral precocious puberty (PPP) due to McCune-Albright syndrome (MAS).</p><p><strong>Subjects and methods: </strong>Data from 18 females, including anthropometric and reproductive outcomes, were evaluated. Genetic analysis was performed on DNA from peripheral leukocytes via digital PCR.</p><p><strong>Results: </strong>Clinical manifestations of PPP were isolated thelarche, thelarche plus vaginal bleeding, or isolated vaginal bleeding in 44.5%, 33.3%, and 22.2%, respectively, at an early age (3.3 ± 1.6 years). At diagnosis, basal LH and FSH levels were suppressed in 100% and 72.2% of cases, respectively, and estradiol ranged from prepubertal to high levels. The mean bone age advancement was 2.3 ± 1.9 years. Treatment included medroxyprogesterone acetate, tamoxifen, aromatase inhibitors, and ketoconazole, individually or in combination for 5 ± 2.14 years, with partial or complete control of puberty. Secondary central precocious puberty was diagnosed in 57.1% (8/14) of the patients. Fibrous dysplasia was diagnosed in 11 patients and managed with bisphosphonates for those with bone pain. The mean adult height was 155.1 ± 8.7 cm (-1.17 SDS) in 10 patients. Menarche occurred at a mean age of 12.2 ± 1.04 years, 70% reported regular menstrual cycles and only one female desired pregnancy. Genetic diagnosis was established in 52.9% (9/17) of the patients.</p><p><strong>Conclusion: </strong>Medical treatment of PPP was effective in girls with MAS and led to preservation of adult height potential, and reproductive function was normal when patients reached adulthood.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240459"},"PeriodicalIF":1.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diabetic retinopathy and diabetic kidney disease, either isolated or associated, impact on the 10-year risk of cardiovascular disease: are we dealing with similar conditions?","authors":"Clara Krummenauer Maraschin, Janine Alessi, Mateus Augusto Dos Reis, Gabriela Oliveira Gonçalves Molino, Gabriela Heiden Teló, Beatriz D Schaan","doi":"10.20945/2359-4292-2024-0258","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0258","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the association between diabetic retinopathy, diabetic kidney disease, and the 10-year risk of atherosclerotic cardiovascular disease in patients with diabetes.</p><p><strong>Subjects and methods: </strong>A cross-sectional study was performed involving patients diagnosed with either type 1 or type 2 diabetes mellitus. Participants were classified into four groups: DM (patients without diabetes-related complications), DR (patients with diabetic retinopathy only), DKD (patients with diabetic kidney disease only), and DR + DKD (patients with both diabetic retinopathy and diabetic kidney disease). The primary outcome was the 10-year risk assessment for cardiovascular events, calculated using the American Heart Association's atherosclerotic cardiovascular disease score.</p><p><strong>Results: </strong>A total of 571 patients were selected including 128 with type 1 diabetes (average age of 39.4 ± 15.1 years; 48.4% female) and 443 with type 2 diabetes (average age of 59.5 ± 11.9 years; 66.4% female). Among the participants with type 2 diabetes, the cardiovascular risk was 15.2 ± 14.6% for the DM group, 15.7 ± 10.7% for the DR group, 22.5 ± 16.7% for the DKD group, and 21.5 ± 15.1% for the DR + DKD group, reflecting a significantly higher cardiovascular risk in the groups with renal involvement (P <0.001). For those with type 1 diabetes, the DM group had a risk of 6.1 ± 8.9%, the DR group 8.9 ±11.8%, the DKD group 5.4 ± 8.8%, and the DR + DKD group 6.1 ± 9.5%. The mean difference in risk between the groups was not statistically significant.</p><p><strong>Conclusion: </strong>In patients with type 2 diabetes, those with diabetic kidney disease appeared to have a higher theoretical risk of cardiovascular disease compared to those with only diabetic retinopathy.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240258"},"PeriodicalIF":1.6,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between weekend catch-up sleep and the risk of diabetic kidney disease.","authors":"Xia Wu, Yunhai Tang, Yayun He, Zhihuan Tang, Yingdan Zhao","doi":"10.20945/2359-4292-2024-0370","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0370","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between weekend catch-up sleep (WCS) and the risk of diabetic kidney disease (DKD). Subjects and.</p><p><strong>Methods: </strong>Data from 1,621 adults aged 18 years or older from the National Health and Nutrition Examination Survey 2017-2020 were obtained for this cross-sectional study. WCS was calculated as the mean weekend sleep duration minus the mean weekday sleep duration. The outcomes were DKD, a reduced estimated glomerular filtration rate (eGFR), and proteinuria. The associations between WCS and DKD, the reduced eGFR or proteinuria were evaluated via a weighted multivariate logistic regression model. Subgroup analyses were performed for different sexes and participants with or without hypertension.</p><p><strong>Results: </strong>A total of 583 diabetic patients had DKD, of whom 198 patients displayed reduced eGFRs and 499 patients had proteinuria. After adjusting for all confounding factors, Group 4 (weekend CUS ≥ 2 and < 3 hours) still had lower odds of DKD [odds ratio (OR) = 0.51, 95% confidence interval (CI): 0.28-0.93] and proteinuria (OR = 0.51, 95% CI: 0.27-0.96). Additionally, subgroup analyses stratified by sex and hypertension consistently revealed connections in female diabetic patients (OR = 0.40, 95% CI: 0.20-0.78 for DKD; OR = 0.47, 95% CI: 0.22-0.97 for proteinuria) and in diabetic patients with hypertension (OR = 0.39, 95% CI: 0.18-0.81 for DKD; OR = 0.38, 95% CI: 0.19-0.77 for proteinuria). However, the fully adjusted model revealed no such association between WCS and a reduced eGFR.</p><p><strong>Conclusion: </strong>WCS was found to decrease the likelihood of developing DKD and proteinuria among American adult patients diagnosed with diabetes, particularly among female patients or those with hypertension.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240370"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Awareness, treatment, and control of diabetes in South America: A systematic review and meta-analysis.","authors":"Jorge Emerson Chachaima-Mar, Alexandra Isabel Ramirez Moreno, Kenjiro Chau Ruiz, Maria Lazo-Porras","doi":"10.20945/2359-4292-2025-0026","DOIUrl":"https://doi.org/10.20945/2359-4292-2025-0026","url":null,"abstract":"<p><p>Theaim of this review is to determine the proportion of awareness, treatment, and control of diabetes in the South American region. A comprehensive search was conducted using PubMed, EMBASE, SCOPUS, and LILACS databases from January 1, 2014, to March 23, 2024. We included observational, population-based studies that assessed the rates of awareness, treatment, and control of diabetes. The risk of bias was evaluated as proposed by Hoy and cols. A meta-analysis was performed using the random effects model, and heterogeneity was assessed using the I2 statistic. Additionally, a metaregression analysis was conducted to further explore heterogeneity. Fourteen studies met our eligibility criteria. The disease awareness meta-analysis, which included six studies, revealed that 71.7% (95% CI: 65.2%-77.8%, I2: 94.2%) of participants had a previous diagnosis of diabetes. The disease treatment meta-analysis, which included five studies, indicated that 64.6% (95% CI: 52.9%-75.3%, I2: 98.7%) of participants were receiving some form of treatment for diabetes, and 42.4% (95% CI: 36.0%-49.1%, I2: 96.3%) had their glycemic values within target ranges. All included studies were assessed to have a low risk of bias. In South America, the limited available evidence suggests a significant portion of individuals with diabetes remain untreated and uncontrolled. Numerous countries lack critical information on the diabetes care cascade necessary to inform health policies.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e250026"},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of selenoproteins and proinflammatory cytokines in L-thyroxine-induced hyperthyroid rats: effects of selenium supplementation.","authors":"Aysun Yoldas, Nurten Bahtiyar, Birsen Aydemir, Selmin Toplan","doi":"10.20945/2359-4292-2024-0444","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0444","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated the effects of selenium, which is known for its antioxidant and immune-supporting properties, on serum levels of thyroid function markers, selenoproteins, and proinflammatory cytokines in a model of hyperthyroidism.</p><p><strong>Materials and methods: </strong>A total of 48 Wistar albino rats were distributed into 6 groups: a control group; a hyperthyroid group (HT group); a group fed 0.5 mg/kg sodium selenite (Se 1 group); a group fed 1 mg/kg sodium selenite (Se 2 group); a hyperthyroid group fed 0.5 mg/kg sodium selenite (HT + Se 1 group); and a hyperthyroid group fed 1 mg/kg sodium selenite (HT + Se 2 group) added to standard fodder. Serum levels of interleukin (IL)-1β, IL-6, IL-18, tumour necrosis factor alpha (TNF-α), selenoprotein P (SelP), and glutathione peroxidase 1 (GPx1) were measured using ELISAs.</p><p><strong>Results: </strong>IL-Iβ, IL-6, IL-18, and TNF-α levels were increased, but selenium, GPx1, and SelP levels were decreased in the hyperthyroid group compared with those in the control group. Selenium and GPx1 levels were increased, but TNF-α levels were decreased in the HT + Se 1 group compared with those in the HT group. Selenium, SelP, and GPx1 levels were increased, but TNF-α, IL-6, and IL-18 levels were decreased in the HT + Se 2 group compared with those in the HT group.</p><p><strong>Conclusion: </strong>Our results suggest that appropriate doses of selenium may be effective at preventing inflammation and providing protection against oxidative stress in hyperthyroid rats.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240444"},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms are associated with changes in laboratory markers of renal damage among patients with type 2 diabetes mellitus.","authors":"Luciane Moretto, Eliandra Girardi, Anna Carolina Meireles Vieira, Letícia de Almeida Brondani, Natália Emerim Lemos, Luís Henrique Canani, Marilu Fiegenbaum, Cristine Dieter, Daisy Crispim","doi":"10.20945/2359-4292-2024-0167","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0167","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between the rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms and diabetic kidney disease in patients with type 2 diabetes mellitus.</p><p><strong>Methods: </strong>The sample consisted of 740 patients with type 2 diabetes mellitus and diabetic kidney disease (cases) and 303 patients with type 2 diabetes mellitus, but no diabetic kidney disease (controls). The genotyping of the polymorphisms was conducted using real-time polymerase chain reaction with Taqman probes.</p><p><strong>Results: </strong>The frequency of the rs3844492/ARHGAP22 G/G genotype was 16.8% in the control group and 15.7% in cases (p = 0.069). After adjusting for covariables, the presence of the G allele was associated with risk for diabetic kidney disease (OR = 1.435, 95% CI 1.023 - 2.011; p = 0.036), as well as with a decreased estimated glomerular filtration rate (p = 0.012) and elevated creatinine levels (p = 0.009). No difference was observed in the rs741301/ELMO1 genotype frequencies between groups (p = 0.800). However, the presence of the C allele appears to be associated with higher creatinine levels in patients with type 2 diabetes mellitus (p = 0.064).</p><p><strong>Conclusion: </strong>The rs3844492/ARHGAP22 and rs741301/ELMO1 polymorphisms are associated with alterations in renal function markers among patients with type 2 diabetes mellitus.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240167"},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12017629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning for high-risk hospitalization prediction in outpatient individuals with diabetes at a tertiary hospital.","authors":"Carolina Deina, Flavio S Fogliatto, Mateus Augusto Dos Reis, Beatriz D Schaan","doi":"10.20945/2359-4292-2024-0317","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0317","url":null,"abstract":"<p><strong>Objective: </strong>To characterize, via a predictive model using real-world data, patients with diabetes with a heightened probability of hospitalization.</p><p><strong>Methods: </strong>At the Endocrinology Unit of a tertiary public hospital in Rio Grande do Sul, Brazil, a retrospective cohort study analyzed initial consultations from January 1, 2015, to December 31, 2017, focusing on 617 patients with diabetes. Within this group, 82.98% (512 patients) did not require hospitalization, while 17.02% (105 patients) were hospitalized at least once. Multiple machine learning algorithms were tested, and the combination of XGBoost and Instance Hardness Threshold models displayed the best predictive performance. The SHapley Additive exPlanations method was used for result interpretation.</p><p><strong>Results: </strong>The most optimal performance was observed by combining the XGBoost and Instance Hardness Threshold models, resulting in the highest sensitivity (0.93) in accurately classifying hospitalization events, with an acceptable area under the curve of 0.72. Key predictive features included the number of outpatient visits, amplitude of estimated glomerular filtration rate, and age (individuals below 24 years old and between 65 to 70 years old had higher hospitalization likelihood).</p><p><strong>Conclusion: </strong>The proposed model demonstrated high predictive capability and may help to identify patients with diabetes who should be more closely monitored to reduce their risk of hospitalization.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e230348"},"PeriodicalIF":1.6,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12002597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 triglyceride-glucose index and the risk of type 2 diabetes mellitus.","authors":"Hui Luo, Qin Yang, Haolan Xu, Shan Wu, Wenjing Wang, Ru Zhou, Yanlang Yang, Qi Yu","doi":"10.20945/2359-4292-2023-0493","DOIUrl":"https://doi.org/10.20945/2359-4292-2023-0493","url":null,"abstract":"<p><strong>Objective: </strong>To assess the efficacy of the triglyceride-glucose (TyG) index in predicting type 2 diabetes mellitus (T2DM) in the general population.</p><p><strong>Subjects and methods: </strong>Baseline data were collected from a community population that underwent physical examination between 2015 and 2020. The TyG index was calculated via the following formula: TyG = Ln [fasting triglyceride (mg/dL) × fasting blood glucose (mg/dL)/2]. Cox regression and stratified analyses were performed to evaluate the ability of the TyG score to predict the occurrence of diabetes.</p><p><strong>Results: </strong>In total, 8 576 subjects were ultimately included and divided into a T2DM group (n = 882) and a non-T2DM group (n = 7,694) according to the results of the 5-year follow-up. Adjustment for all covariates revealed that every 1-unit increase in the TyG index multiplied the risk of T2DM in all the participants (HR: 3.348; 95% CI: 3.004-3.731; P < 0.001). When TyG was divided into three quantiles, the risk of T2DM in the highest quantile was 6.412 times greater than that in the lowest quantile. Subgroup analysis revealed that the correlation was more pronounced in middle-aged and young adults, females, and eutrophic individuals (interaction P value < 0.001).</p><p><strong>Conclusion: </strong>The TyG index can be a strong predictor of T2DM and is more useful for estimating the risk of T2DM in young and middle-aged adults, females, and eutrophic people.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e230493"},"PeriodicalIF":1.6,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12002598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sarcopenic obesity: a review.","authors":"Victoria Zeghbi Cochenski Borba, Tatiana Munhoz da Rocha Lemos Costa","doi":"10.20945/2359-4292-2024-0084","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0084","url":null,"abstract":"<p><p>The global increase in life expectancy has led to a concomitant rise in diagnoses of sarcopenia. At the same time, the epidemic levels of obesity have given rise to the emergence of a complex condition known as sarcopenic obesity. Characterized by the simultaneous presence of loss of muscle mass and strength along with obesity or excess body fat, sarcopenic obesity represents a concerning health condition. Contrary to prevailing assumptions, sarcopenic obesity is not exclusive to older adults, as it may also manifest in individuals with obesity and chronic diseases and in those who undergo rapid weight loss. This juxtaposition of fat accumulation and muscle depletion epitomizes a harmful combination, especially in healthy adults. A precise definition of sarcopenic obesity and an understanding of how different body composition components affect functional parameters, comorbidities, and mortality rates are crucial for grasping the full extent and significance of this condition. Despite its multifaceted nature, sarcopenic obesity is often undiagnosed and undertreated, posing a considerable challenge to healthcare systems worldwide. In this review, we explore the intricate interplay of factors contributing to the development and consequences of sarcopenic obesity and discuss newly proposed diagnostic guidelines aimed at improved screening. Enhancing awareness and understanding of sarcopenic obesity is imperative for addressing its growing prevalence and mitigating its adverse health effects.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e240084"},"PeriodicalIF":1.6,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The C allele of the rs741301 polymorphism in the ELMO1 gene is associated with increased risk of diabetic retinopathy in patients with type 2 diabetes mellitus.","authors":"Luciane Moretto, Letícia de Almeida Brondani, Eliandra Girardi, Anna Carolina Meireles Vieira, Natália Emerim Lemos, Marilu Fiegenbaum, Luís Henrique Canani, Daisy Crispim, Cristine Dieter","doi":"10.20945/2359-4292-2024-0283","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0283","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association of the rs741301 polymorphism in the ELMO1 gene with diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Materials and methods: </strong>This study analyzed 350 patients withT2DM and DR (cases) and 234 patients withT2DM without this complication but with more than 10 years of diabetes mellitus (DM) (controls). DR was diagnosed by indirect fundoscopy. Genotyping was performed by allelic discrimination real-time PCR.</p><p><strong>Results: </strong>The frequency of the C/C genotype of the rs741301 polymorphism in the ELMO1 gene was 26.9% in cases and 17.9% in controls (P = 0.011). After adjustment for covariables, the C/C genotype was associated with an increased risk of DR [odds ratio (OR) = 1.805, 95%CI 1.101-2.961; P = 0.019]. This association remained significant in dominant and additive inheritance models after adjustment for the same variables [OR = 1.597, 95%CI 1.089-2.343; P = 0.017; and OR = 1.818, 95%CI 1.099-3.007; P = 0.020].</p><p><strong>Conclusion: </strong>This study demonstrated an association between the presence of the C allele of the ELMO1 rs741301 polymorphism and an increased risk of DR in patients with T2DM from Southern Brazil.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e240283"},"PeriodicalIF":1.6,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11967185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}