Endocrine最新文献

{"title":"A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.","authors":"Héctor M Targovnik, Debmalya Barh, Patricia Papendieck, Ezequiela Adrover, Ariel M Gallo, Ana Chiesa, Wanderson Marques da Silva, Vasco Azevedo, Carina M Rivolta","doi":"10.1007/s12020-024-04098-3","DOIUrl":"10.1007/s12020-024-04098-3","url":null,"abstract":"<p><p>DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause underlying the familial form of MNG through a whole-exome sequencing (WES) analysis in an Argentine family with three affected siblings. Clinical, biochemical and molecular genetics as well as bioinformatics analysis were performed. A novel heterozygous variant in the DICER1 gene was identified in the proband patient by WES. The variant was a single guanine deletion at nucleotide position 2,042 (NM_177438.3:c.2042del) resulting in a frameshift at amino acid 681 with a putative premature stop codon [NP_803187.1:p.Gly681ValfsTer4]. Family segregation analysis showed that his affected sister and his affected brother also were heterozygous for same variant, whereas the father was a healthy heterozygous carrier of the variant and the healthy mother harbor only wild-type alleles in the DICER1 gene. We have also observed that the frameshift variant does not interfere with the pre-mRNA splicing of the exon 13. In addition, two clinically relevant heterozygous variants, not associated with thyroid disease, were also identified in index sibling using the Franklin platform, a frameshift [NP_000234.1:p.Thr55AsnfsTer49] in the MEFV gene (familial mediterranean fever) and a missense [NP_004530.1:p.Ala422Thr] in the NARS1 gene (neurodevelopmental delay and ataxia). In conclusion, in the present study we have identified a novel frameshift variant corresponding to NP_803187.1:p.Gly681ValfsTer4 in the DUF 283 domain of DICER1. The results were in accordance with previous observations confirming the genetic heterogeneity of DICER1 syndrome. Moreover, the identification of this variant in the unaffected father substantiates the hypothesis of incomplete/reduced penetrance.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1150-1161"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-invasive diagnosis of papillary thyroid microcarcinoma using a novel metabolomics analysis of urine.","authors":"Mingjian Zhao, Ruowen Li, Chengxu Miao, Paolo Miccoli, Jinghui Lu","doi":"10.1007/s12020-024-04105-7","DOIUrl":"10.1007/s12020-024-04105-7","url":null,"abstract":"<p><strong>Background: </strong>The severity of thyroid cancer is judged on the basis of histologic and clinical features. A limited number of studies have considered urinary metabolite signatures for its diagnosis, and no reliable urinary metabolite biomarkers have been proposed. This diagnostic method would be particularly valuable because of its non-invasive nature.</p><p><strong>Method: </strong>A nuclear magnetic resonance (NMR)-based metabolomics approach was used as the analytical platform to study the urine samples of patients with PTMC. Urine samples collected from 41 PTMC patients, 52 healthy subjects, and 13 patients with benign tumors were analyzed using 1H-NMR spectroscopy to identify metabolic changes. PLS-DA, or partial least squares discriminant analysis, was used to analyze the NMR spectra. A double cross-validation method and randomization tests were used to validate PLS-DA models.</p><p><strong>Results: </strong>Clear discriminations between PTMC patients and healthy controls, as well as between PTMC patients and patients with benign tumors were obtained. Collectively, pi-methyhistidine, trimethylamine, myo-inositol, acetate, suberate, azelate, mannitol, tau-methylhistine, ascorbate, 3-aminoisobutyric acid, 2-oxoglutarate, and methanol contributed to the discrimination. Apart from myo-inositol and methanol, all of these metabolites exhibited increased levels in the urine samples of PTMC patients as compared to that of patients with benign tumors.</p><p><strong>Conclusions: </strong>The application of this NMR-based metabolomics approach allowed the detection of anomalous metabolic traits directly connected PTMC, potentially yielding a more sensitive and comprehensive diagnostic results for PTMC.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1100-1111"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The mediating role of remnant cholesterol in the associations of Angiopoietin-like 8 with all-cause, CVD, and cancer death: the China Cardiometabolic Disease and Cancer Cohort (4C) study.","authors":"Peiqiong Luo, Danpei Li, Yaming Guo, Xiaoyu Meng, Ranran Kan, Limeng Pan, Yuxi Xiang, Beibei Mao, Yi He, Siyi Wang, Yan Yang, Zhelong Liu, Junhui Xie, Benping Zhang, Wentao He, Shuhong Hu, Xinrong Zhou, Xuefeng Yu","doi":"10.1007/s12020-024-04115-5","DOIUrl":"10.1007/s12020-024-04115-5","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the potential mediating effect of remnant cholesterol (RC) in the associations between angiopoietin-like 8 (ANGPTL8) and the risk of all-cause, cardiovascular disease (CVD), and cancer death.</p><p><strong>Methods: </strong>This prospective observational study included 3278 individuals from China. Binary logistic regression and mediation analyses were conducted to investigate the mediating effect of RC in the associations between ANGPTL8 and all-cause, CVD, and cancer death.</p><p><strong>Results: </strong>During up to 5-year follow-up, a total of 265 deaths (8.08%) were documented. Both increased levels of ANGPTL8 and RC were associated with a higher risk of death for all-cause, CVD, and cancer risk. The level of RC ≥ 33 mg/dL could identify individuals at a higher risk of death independent of low-density lipoprotein cholesterol (LDL-C) levels in Chinese general populations. Furthermore, RC significantly mediated the relationship between increased ANGPTL8 levels and higher risk of all-cause, CVD, and cancer death (proportion of mediation effect: 13.10%, 9.22%, and 6.07%, respectively, all p < 0.05).</p><p><strong>Conclusion: </strong>Both increased circulating levels of ANGPTL8 and RC are the risk factors for all-cause, CVD, and cancer death and RC partially mediates the association between ANGPTL8 and death risk.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"997-1010"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subcutaneous fast-acting insulin analogues ± long-acting insulin vs IV insulin infusion in DKA: updated meta-analysis of randomised trials.","authors":"Beng Leong Lim, Wei Feng Lee, Yan Ee Lynette Chung, Berlin Lee, Kee Vooi Loo","doi":"10.1007/s12020-024-04071-0","DOIUrl":"10.1007/s12020-024-04071-0","url":null,"abstract":"<p><strong>Background: </strong>Diabetic ketoacidosis (DKA) is often treated with intravenous regular insulin infusion (IVRII). Subcutaneous fast-acting insulin analogues (FAIAs); either alone or combined with subcutaneous long-acting insulin (LAI); might be useful to treat DKA. Our meta-analysis updated on their benefits and safety in DKA.</p><p><strong>Methods: </strong>We searched major electronic databases for randomised trials on subcutaneous FAIAs ± subcutaneous LAI vs IVRII in DKA. Primary outcomes were all-cause in-hospital mortality, time to resolution of DKA and hyperglycemia, in-hospital DKA recurrence and hospital readmission for DKA post-discharge. Secondary outcomes included resource utilisation and patient satisfaction. Safety outcomes were adverse events. Reviewers assessed risk of bias and quality of evidence using GRADE. We performed a priori subgroup and trial sequential analyses on primary outcomes.</p><p><strong>Results: </strong>Seven trials enrolled 351 mainly adult patients (255/351) with mild to moderate DKA. No trials studied subcutaneous FAIA and subcutaneous LAI. Their risk of bias was high or unclear in several domains. No all-cause in-hospital mortality and DKA recurrence were reported. No trial investigated hospital readmission for DKA post-discharge. There was no difference in mean time to resolution of DKA (mean difference = -0.70, 95% CI -2.18 to 0.79 h, p = 0.36) or hyperglycemia [blood glucose < 250 mg/dL (13.9 mmol/L)] (mean difference = -0.17, 95% CI -1.10 to 0.76 h, p = 0.72) between subcutaneous FAIA and IVRII groups. There were largely no subgroup effects. Both groups had similar secondary outcomes. Hypoglycemia was the most common adverse event. Quality of evidence was low to very-low for all outcomes. The only possible trial sequential analysis for time to resolution of DKA was inconclusive.</p><p><strong>Conclusions: </strong>There was low- to very-low quality evidence that subcutaneous FAIA did not affect patient-centered outcomes in mainly adult patients with mild to moderate DKA compared to IVRII.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"920-932"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the feasibility of ChatGPT-4o and Claude 3-Opus in thyroid nodule classification based on ultrasound images.","authors":"Ziman Chen, Nonhlanhla Chambara, Chaoqun Wu, Xina Lo, Shirley Yuk Wah Liu, Simon Takadiyi Gunda, Xinyang Han, Jingguo Qu, Fei Chen, Michael Tin Cheung Ying","doi":"10.1007/s12020-024-04066-x","DOIUrl":"10.1007/s12020-024-04066-x","url":null,"abstract":"<p><strong>Purpose: </strong>Large language models (LLMs) are pivotal in artificial intelligence, demonstrating advanced capabilities in natural language understanding and multimodal interactions, with significant potential in medical applications. This study explores the feasibility and efficacy of LLMs, specifically ChatGPT-4o and Claude 3-Opus, in classifying thyroid nodules using ultrasound images.</p><p><strong>Methods: </strong>This study included 112 patients with a total of 116 thyroid nodules, comprising 75 benign and 41 malignant cases. Ultrasound images of these nodules were analyzed using ChatGPT-4o and Claude 3-Opus to diagnose the benign or malignant nature of the nodules. An independent evaluation by a junior radiologist was also conducted. Diagnostic performance was assessed using Cohen's Kappa and receiver operating characteristic (ROC) curve analysis, referencing pathological diagnoses.</p><p><strong>Results: </strong>ChatGPT-4o demonstrated poor agreement with pathological results (Kappa = 0.116), while Claude 3-Opus showed even lower agreement (Kappa = 0.034). The junior radiologist exhibited moderate agreement (Kappa = 0.450). ChatGPT-4o achieved an area under the ROC curve (AUC) of 57.0% (95% CI: 48.6-65.5%), slightly outperforming Claude 3-Opus (AUC of 52.0%, 95% CI: 43.2-60.9%). In contrast, the junior radiologist achieved a significantly higher AUC of 72.4% (95% CI: 63.7-81.1%). The unnecessary biopsy rates were 41.4% for ChatGPT-4o, 43.1% for Claude 3-Opus, and 12.1% for the junior radiologist.</p><p><strong>Conclusion: </strong>While LLMs such as ChatGPT-4o and Claude 3-Opus show promise for future applications in medical imaging, their current use in clinical diagnostics should be approached cautiously due to their limited accuracy.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1041-1049"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845565/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142407011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Triglyceride glucose index is associated with vertebral fracture in older adults: a longitudinal study.","authors":"Zicheng Wei, Xifa Gao, Jiangchuan Wang, Yu Wang, Hongye Tang, Zhenyuan Ma, Jianhua Wang, Xiao Chen","doi":"10.1007/s12020-024-04136-0","DOIUrl":"10.1007/s12020-024-04136-0","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetes is a risk factor for bone fractures. However, the association between insulin resistance and the risk of fracture has not been well studied. In the present study, we explored the association of the triglyceride glucose index as a measure of insulin resistance with the risk of vertebral fracture in older adults.</p><p><strong>Methods: </strong>A total of 1995 subjects aged 50 years or older who underwent computed tomography (CT) for lung cancer screening from 2016-2021 were included in this study. They were followed until July 2023. Demographic information and laboratory test data were collected from the electronic medical system. Vertebral fractures were evaluated on the basis of sagittal CT images of the spine. The triglyceride glucose (TYG) index was calculated via the following equation: Ln [fasting glucose (mg/dl)×fasting triglyceride (mg/dl)/2]. The association between the TYG index and vertebral fracture incidence was evaluated via a multivariable Cox proportional hazards model.</p><p><strong>Results: </strong>Ninety-five cases of fracture were observed during the 60 months of follow-up. The incidence of fracture was lower for the fourth TYG index than for the first TYG index (3.26% vs. 6.00%, P = 0.04). The risk of vertebral fracture decreased with increasing TYG index (adjusted hazard ratio (aHR): 0.56, 95% confidence interval (CI): 0.35-0.90). Fracture risk was significantly lower in subjects with the highest TYG (the fourth quartile) than in those with the first quartile (aHR: 0.46, 95% CI: 0.22-0.96) according to the fully adjusted model. A similar association was observed in subjects without diabetes (aHR = 0.44, 95% CI: 0.21-0.95). Restricted cubic splines further revealed that the risk of vertebral fracture decreased with increasing TYG index.</p><p><strong>Conclusion: </strong>A greater TYG index was associated with a lower risk of vertebral fracture, independent of body mass index and bone mass.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1022-1030"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal association between serum 25-hydroxyvitamin D levels and gestational diabetes mellitus: a bidirectional two-sample Mendelian randomization study.","authors":"Wei Li, Kaili Zhu, Zhongqiang Ma, Tao Wang","doi":"10.1007/s12020-024-04100-y","DOIUrl":"10.1007/s12020-024-04100-y","url":null,"abstract":"<p><strong>Purpose: </strong>Previous investigations have assessed the connection between vitamin D deficiency and an increased risk of gestational diabetes mellitus (GDM); however, the findings remain inconsistent. The purpose of this study was to investigate the causal relationship between 25-hydroxyvitamin D (25OHD) levels and GDM.</p><p><strong>Methods: </strong>Summary statistics data from genome-wide association studies (GWASs) were used to perform a bidirectional two-sample Mendelian randomization (MR) study. A total of 417,580 Europeans from the UK Biobank provided summary statistics data for 25OHD. The tenth data release of the FinnGen study provided the data for GDM, comprising 14,718 cases and 215,592 controls. For the univariate MR (uvMR) investigations, we employed the inverse variance weighted (IVW) method as our major analytical approach. Multiple sensitivity analyses were performed to evaluate the robustness of the results. Moreover, multivariate MR (mvMR) studies were conducted to account for potential confounding variables, including obesity, insulin resistance, and lipid traits.</p><p><strong>Results: </strong>In the forward MR study, uvMR analysis did not provide evidence supporting a causal effect of 25OHD levels on the risk of GDM [IVW odds ratio (OR): 1.07, 95% confidence interval (CI): 0.95 to 1.19, p = 0.273]. After adjusting for obesity, fasting insulin levels, and lipid traits, the findings from the mvMR analysis aligned with those of the uvMR analysis. In the reverse MR study, uvMR analysis indicated that GDM had no causal effect on serum 25OHD levels (IVW β = -0.003, p = 0.804), and the robustness of this finding was confirmed in the mvMR study.</p><p><strong>Conclusion: </strong>Our MR research revealed no causal effect of serum 25OHD levels on GDM, suggesting that 25OHD deficiency does not correlate with an increased risk of GDM. Furthermore, our reverse analysis revealed no causal effect of GDM on 25OHD levels.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1216-1223"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family.","authors":"Shuyao Pan, Shushu Long, Liangchun Cai, Junping Wen, Wei Lin, Gang Chen","doi":"10.1007/s12020-024-04087-6","DOIUrl":"10.1007/s12020-024-04087-6","url":null,"abstract":"<p><strong>Purpose: </strong>Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant genetic disease associated with mutations in the GATA3 gene, which encodes GATA3 that plays essential roles in vertebrate development. This study aimed to identify and report the pathogenic mutation in GATA3 in a Chinese family diagnosed with HDR syndrome and determine its functional impacts in vivo.</p><p><strong>Subjects and methods: </strong>The clinical features of a 25-year-old male patient with HDR syndrome and his parents were collected. GATA3 gene exome sequencing and Sanger sequencing were performed on the proband and his family, respectively. Functional analyses of GATA3 were performed using bioinformatics tools and zebrafish assays to determine pathogenicity and phenotype spectrum.</p><p><strong>Results: </strong>A novel, heterozygous, missense mutation in exon 4 of the GATA3 gene, c.863 G > A, p.Cys288Tyr, in the proband and his mother who presented the complete HDR triad, was predicted to be deleterious by in silico tools. 3D structure modeling showed that the variant caused significant structural changes. In vivo studies using a zebrafish animal model revealed the deleterious impact of the variant on the gill buds, otoliths, and pronephros.</p><p><strong>Conclusion: </strong>We identified a novel missense mutation, GATA3 p.Cys288Tyr, within a family with HDR syndrome and delineated it as a loss-of-function variant in vivo. This expands the spectrum of GATA3 mutations associated with HDR syndrome in the Chinese population and mimics HDR-related changes in vivo.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1194-1203"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142591944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic value of TRIM22 in diabetic kidney disease and its mechanism.","authors":"Qianhui Wang, Qingmiao Ge, Jingjing Wang, Yonggui Wu, Xiangming Qi","doi":"10.1007/s12020-024-04089-4","DOIUrl":"10.1007/s12020-024-04089-4","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic kidney disease (DKD) is the primary reason of chronic kidney disease. Our objective was to discover potential autophagy-related biomarkers of tubulointerstitial injury in DKD and assess their clinical value.</p><p><strong>Methods: </strong>We retrieved four datasets (GSE104954, GSE30122, GSE30529, and GSE99340) of renal tubule samples from Gene Expression Omnibus (GEO) and used two algorithms (LASSO and SVM-RFE) to screen for autophagy-related differentially expressed genes (ARDEGs) in DKD. Tripartite motif containing 22 (TRIM22) was identified for subsequent validation. Validation of TRIM22 and autophagic indicators expression in clinical samples and HK-2 cells stimulated by high glucose using immunohistochemistry, immunofluorescence, and western blot.</p><p><strong>Results: </strong>We identified four ARDEGs (TRIM22, PLK2, HTR2B, and FAS) using a diagnostic gene model. ROC curves further confirmed that TRIM22 had the best diagnostic efficacy for DKD. Both clinical samples and HK-2 cells stimulated by high glucose showed high protein expression of TRIM22. The correlation analysis revealed that TRIM22 correlates with SQSTM1, NGAL, and some clinical and pathological indicators in patients with DKD.</p><p><strong>Conclusion: </strong>We identified TRIM22 as a potential diagnostic biomarker for DKD, revealing its high diagnostic value in patients with DKD with moderate-to-severe interstitial fibrosis and tubular atrophy (IFTA). TRIM22 is involved in tubulointerstitial injury and autophagy dysregulation in DKD.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"959-977"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of nurse tele support via telephone calls on transition between specialized and primary care in type 2 diabetes mellitus patients: a CONSORT-compliant randomized clinical trial.","authors":"Ana Marina Moreira, Dimitris Varvaki Rados, Camila Bergonsi de Farias, Sabrina Coelli, Livia de Almeida Faller, Laura Ferraz Dos Santos, Ana Maria Matzenbacher, Natan Katz, Erno Harzeim, Sandra Pinho Silveiro","doi":"10.1007/s12020-024-04095-6","DOIUrl":"10.1007/s12020-024-04095-6","url":null,"abstract":"<p><strong>Background: </strong>The role of telemedicine in the transition to primary care for type 2 diabetes mellitus (T2DM) is yet unknown. We aimed to evaluate this issue in well-controlled T2DM patients discharged from a tertiary clinic.</p><p><strong>Methods: </strong>This is a CONSORT-compliant 12-month randomized clinical trial (RCT). T2DM patients with glycated hemoglobin (HbA1c) < 8%, being discharged to primary care from a tertiary clinic, were recruited. The intervention group periodically received nurse phone calls focusing on education. The control group received primary care as usual. The main outcome was glycemic control (HbA1c) at 12 months.</p><p><strong>Results: </strong>147 patients were randomized (73 in intervention vs. 74 in control groups) with no differences in baseline data. After one year, we found no differences between groups in HbA1c (7.46% ± 1.37 in intervention vs. 7.54% ± 1.6 in control group; P = 0.76). HbA1c slightly increased from baseline in both groups (0.46% in intervention vs. 0.64% in control group) at 12 months, without differences between them (P = 0.69).</p><p><strong>Conclusions: </strong>A telemedicine intervention based on phone calls plus primary care shows a similar effect to primary care alone on T2DM patients' HbA1c after tertiary clinic discharge. Patients remained with a reasonable HbA1c during the trial, suggesting that the transition to primary care was safe.</p><p><strong>Trial registration: </strong>Clinical Trials, NCT02768480. Registered on April 29, 2016.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"978-986"},"PeriodicalIF":3.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}