M Paja, J L Del Cura, R Zabala, I Korta, Mª T Gutiérrez, A Expósito, A Ugalde
{"title":"A simplified four-tier classification for thyroid core needle biopsy.","authors":"M Paja, J L Del Cura, R Zabala, I Korta, Mª T Gutiérrez, A Expósito, A Ugalde","doi":"10.1007/s40618-024-02508-x","DOIUrl":"10.1007/s40618-024-02508-x","url":null,"abstract":"<p><strong>Purpose: </strong>To propose a simplified histological classification for core-needle biopsy (CNB) of thyroid nodules with four diagnostic categories (DC) and provide the risk of malignancy (ROM) and the expected incidence for each DC. There is no uniform scheme for categorizing CNB specimens, except for a Korean diagnostic classification similar to the Bethesda system for FNAC.</p><p><strong>Methods: </strong>Data from a single institution using CNB as a routine diagnostic tool for thyroid nodules. Biopsies were classified as non-diagnostic, benign, follicular tumour (FT) or malignant. The frequency of each DC and the correlation with surgical pathology of nodules undergoing surgery after CNB were evaluated.</p><p><strong>Results: </strong>Of 6284 CNBs on 5782 nodules [195 (3.1%) non-diagnostic, 5043 (80.3%) benign, 435 (6.9%) FT and 611 (9.7%) malignant], 1914 nodules (33.1%) underwent surgery after 2016 CNBs: 48 non-diagnostic, 1035 benign, 355 FT and 578 malignant. Malignancy was diagnosed after surgery in 11 non-diagnostic (ROM: 22.9%), 23 benign (ROM: 2.2%), 44 FT (ROM: 12.4%, 11.5% excluding low-grade malignancy) and 568 malignant CNBs (ROM: 98.3%, 93.8% excluding low-grade malignancy). Sensitivity and positive predictive value for malignancy of FT or malignant CNB were 94.7% and 65.6%, and for thyroid neoplasm (adenoma or carcinoma) were 93.2% and 92.6%.</p><p><strong>Conclusions: </strong>Our diagnostic classification for CNB of thyroid nodules has a high diagnostic accuracy with a low rate of indeterminate categories. This classification, applied in a Western practice, shows a low ROM for nodules classified as follicular tumours, which could be improved with immunohistochemical studies.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"895-904"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Valentina Berti, Elsa Fasciglione, Anne Charpiot, Flavio Montanini, Miriam Pepponi, Andrea Leo, Fabrice Hubele, David Taieb, Karel Pacak, Bernard Goichot, Alessio Imperiale
{"title":"Deciphering <sup>18</sup>F-DOPA uptake in SDH-related head and neck paragangliomas: a radiomics approach.","authors":"Valentina Berti, Elsa Fasciglione, Anne Charpiot, Flavio Montanini, Miriam Pepponi, Andrea Leo, Fabrice Hubele, David Taieb, Karel Pacak, Bernard Goichot, Alessio Imperiale","doi":"10.1007/s40618-024-02515-y","DOIUrl":"10.1007/s40618-024-02515-y","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the influence of germline succinate dehydrogenase (SDHx) pathogenic variants on 6-[<sup>18</sup>F]-fluoro-3,4-dihydroxyphenylalanine (<sup>18</sup>F-DOPA) Positron Emission Tomography (PET) radiomic signature of head and neck paragangliomas (HNPGLs).</p><p><strong>Methods: </strong>Forty-seven patients (20 SDH pathogenic variants carriers) harboring 55 HNPGLs were retrospectively included. HNPGLs were delineated using Nestle adaptive threshold. 128 radiomic features were extracted and harmonized to correct for batch effects. Principal Component Analysis (PCA) was performed to remove redundancy and avoid collinearity. The most representative feature of each component was tested with multivariate stepwise logistic binary regression analysis (LBRA) to identify variables predictive of genetic status.</p><p><strong>Results: </strong><sup>18</sup>F-DOPA Positron Emission Tomography/Computed Tomography (PET/CT) detected 28/29 carotid body HNPGLs, 23/23 jugulotympanic HNPGLs, and 4/4 vagal HNPGLs. SUVmax was significantly higher in SDH-related HNPGLs (p = 0.003). PCA allowed identification of 4 Components. The most representative variables of Component 1 and 2 (including intensity and intensity-related textural features, and not intensity-related textural features, respectively) were Intensity-based (IB)-SUVmedian and Grey Level Run Length Matrix-Long Run Low Gray Level Emphasis (GLRLM-LRLGLE). SDHx HNPGLs exhibited higher activity scores and more homogeneous texture. At patient level, SDHx cases showed significantly higher IB-SUVmedian values (p < 0.001), and lower GLRLM-LRLGLE than sporadic patients (p = 0.005). IB-SUVmedian was found to be an independent predictor of genetic status at lesion (71.0%) and patient level (77.8%).</p><p><strong>Conclusion: </strong>The present study pioneers the application of <sup>18</sup>F-DOPA PET radiomics for HNPGLs, suggesting the influence of germline SDH pathogenic variants on <sup>18</sup>F-FDOPA uptake intensity and textural heterogeneity. Integrating radiomics with genetic data provides new insights into the correlation between PET features and underlying molecular dysregulation.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"941-950"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi Syndrome.","authors":"Maria Felicia Faienza, Mariangela Chiarito, Alessia Aureli, Raffaele Buganza, Domenico Corica, Maurizio Delvecchio, Luisa De Sanctis, Danilo Fintini, Graziano Grugni, Maria Rosaria Licenziati, Simona Madeo, Enza Mozzillo, Irene Rutigliano, Giuliana Valerio","doi":"10.1007/s40618-024-02511-2","DOIUrl":"10.1007/s40618-024-02511-2","url":null,"abstract":"<p><strong>Purpose: </strong>Individuals with Prader-Willi syndrome (PWS) exhibit hyperphagic behavior, the severity of which varies throughout life. The mechanisms underlying this behavior are still unknown. Asprosin is a new discovered adipokine involved in the regulation of food intake, glucose homeostasis and energy balance. In this study we assessed asprosin serum levels in a cohort of children, adolescents and adults with PWS with the aim to correlate them with hyperphagic behavior, body mass index (BMI) and metabolic parameters, and to evaluate age-related changes.</p><p><strong>Methods: </strong>This cross-sectional study included 87 children and adolescents and 31 adults with PWS. Auxological data, fasting levels of glucose, insulin, total cholesterol, high-density lipoprotein-cholesterol (HDL-C), triglycerides (TG) and asprosin were collected, and the homeostasis model assessment for insulin resistance (HOMA-IR) was determined. The 11-item Italian version of the Hyperphagia Questionnaire (HQ) was administered to the parents/caregivers of the patients to assess hyperphagia.</p><p><strong>Results: </strong>Patients were analysed according to age (children < 10 years, adolescents between 10 and 17.9 years, adults ≥ 18 years) or BMI categories [normal weight (NW), overweight (OW), and obesity (OB)]. No significant correlations were found between asprosin levels and cardiometabolic risk factors in the whole cohort. Higher values of asprosin were found in adults compared with adolescents, as well as in the OB group compared to the NW group (p = 0.014). Hyperphagia total score and hyperphagic subdimensions were significantly lower in children compared to adults (p < 0.05). Similarly, hyperphagia total score and hyperphagic subdimensions were significantly lower in the NW group compared to the OB group. Asprosin levels were significantly higher in patients with deletion versus patients with uniparental disomy (p = 0.037). By logistic regression analysis, HQ total score and hyperphagic subdimensions were significantly associated with BMI-SDS independently of age, sex, and asprosin levels.</p><p><strong>Conclusion: </strong>In conclusion, our data demonstrated higher asprosin levels in PWS individuals with OB compared to NW, while differences by age and sex were inconsistent. The lower levels of hyperphagia, BMI-SDS, and metabolic variables in children with PWS compared to adults underline that prevention of obesity should start very early in life and should be maintained over time.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"979-986"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Aggressive variants of papillary thyroid carcinoma: characteristics, influencing factors, and effectiveness of radioiodine therapy.","authors":"Yuqi Deng, Liqin Pan, Yifan Xu, Yifei Duan, Erhao Chen, Yumei Luo, Huijuan Feng, Wei Ouyang","doi":"10.1007/s40618-024-02507-y","DOIUrl":"10.1007/s40618-024-02507-y","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the pathological characteristics of aggressive variants of papillary thyroid carcinoma (PTC) and evaluate the efficacy of radioiodine (RAI) therapy for these variants.</p><p><strong>Methods: </strong>We analysed 129 patients with aggressive variants of PTC and compared them to those of 4460 patients with non-aggressive variants. And we examined the efficacy of RAI therapy in 70 eligible patients with aggressive variants of PTC and 2530 eligible patients with non-aggressive variants of PTC.</p><p><strong>Results: </strong>Aggressive and non-aggressive variants of PTC demonstrated a greater degree of variability in terms of age, multifocality, capsular invasion, vascular invasion, extrathyroidal invasion, lymph node metastases, disease stage, risk stratification, N stage, comorbid with Hashimoto thyroiditis (HT) and comorbid with nodular goiter (NG). Propensity score matching method showed poor efficacy of RAI treatment in patients with aggressive variants of PTC compared with non-aggressive variants. Multifactorial analysis showed that comorbid NG was an independent risk factor for poor effectiveness of RAI treatment for aggressive PTC variants ((hazard ratio (HR) 3.027; 95% confidence interval (CI), 1.295-7.075).</p><p><strong>Conclusion: </strong>Aggressive variants of PTC demonstrated a higher degree of aggressiveness and poor efficacy of RAI therapy compared to non-aggressive variants, especially comorbid with NG, which may require higher therapeutic 131I dosage.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"905-918"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tommaso Piticchio, S Wolde Sellasie, F D'Arrigo, F Galeano, I Barca, A Prinzi, R Le Moli, L Scappaticcio, S Amendola, L Guidobaldi, I Nardone, S Zaccaria, F Pallotti, L Uccioli, Frasca F
{"title":"Clinical management of indeterminate thyroid nodules needs to be revisited. New evidence for a personalized approach to the problem.","authors":"Tommaso Piticchio, S Wolde Sellasie, F D'Arrigo, F Galeano, I Barca, A Prinzi, R Le Moli, L Scappaticcio, S Amendola, L Guidobaldi, I Nardone, S Zaccaria, F Pallotti, L Uccioli, Frasca F","doi":"10.1007/s40618-024-02510-3","DOIUrl":"10.1007/s40618-024-02510-3","url":null,"abstract":"<p><strong>Purpose: </strong>Thyroid nodules diagnosed by fine needle aspiration cytology (FNAC) as TIR3A or Class III subgroup \"other types of atypia\" (indeterminate thyroid nodules - ITNs), are the only ones without a unique clinical action indicated for management. This leads to multiple FNAC repetitions (FNAC-reps) and lifelong follow-up, with huge consumption of time and resources. The aims of the study were to inquire the usefulness of repeating FNAC in ITNs and perform an evaluation of a long-term follow-up of a large cohort of ITNs.</p><p><strong>Methods: </strong>The study was conducted in two Italian high-volume tertiary centres. We selected patients who underwent the first FNAC with subsequent diagnosis of ITN in a centre involved and who then repeated it in the same institute.</p><p><strong>Results: </strong>We included 506 patients. The FNAC-rep determined the \"change in management indications\" (CMIs) in 30 cases. The binomial test showed that this proportion was not significant (p 0.36). The factors related to CMIs were age (OR = 0.97; 95%CI = 0.95-0.99; p = 0.04), margins (OR = 5.6; 95%CI = 1.7-18.1; p = 0.004), and echogenicity (hypoechoic vs. isoechoic: OR = 5.2; 95%CI = 1.87-14.5; p = 0.002| hypoechoic vs. iso-anechoic: OR = 5.9; 95%CI = 1.32-26.2; p = 0.02). Follow-up of cases without CMIs showed that 20 of 476 cases required surgery. Of these, only four were malignant and all occurred within the first 8 years of observation.</p><p><strong>Conclusions: </strong>The study demonstrated that FNAC-rep is useless for the most of cases, hence it should only be considered for young adults having nodules with suspicious characteristics. Furthermore, a 10-year follow-up for ITNs is safe enough rather than a long-life follow-up.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"885-893"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773885","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}
Yingyu Chen, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Ou Wang, Xiaoping Xing
{"title":"48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.","authors":"Yingyu Chen, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Ou Wang, Xiaoping Xing","doi":"10.1007/s40618-024-02504-1","DOIUrl":"10.1007/s40618-024-02504-1","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to investigate the clinical and genetic features and change of clinical spectrum of primary hyperparathyroidism (PHPT) in children and adolescents.</p><p><strong>Methods: </strong>The clinical and follow-up data of 74 pediatric patients (onset age ≤ 18 years) with PHPT during 1975-2022 were retrospectively analyzed. For comparison, patients were divided into four subgroups according to their time of diagnosis. Genetic analysis was conducted in 40 patients.</p><p><strong>Results: </strong>Pediatric PHPT cases increased largely over time [34 cases (45.9%) in 2015-2022]. The rate of asymptomatic PHPT increased by time (14.7% in 2015-2022 vs. 0% before 2015), in accordance with routine screening of serum calcium becoming a more frequent reason for clinic visit (17.6% in 2015-2022 vs. 0% before 2015). Skeletal manifestation significantly decreased in recent years (64.7% in 2015-2022 vs. 100.0% in 1975-1994, P < 0.05). Sixty-seven patients (90.5%) of the whole cohort underwent parathyroidectomy. Atypical parathyroid adenoma and parathyroid carcinoma occurred in 13.4% and 4.5% of the surgical cases, respectively. Recurrence and persistence of PHPT were observed in 17.9% of postsurgical patients. Germline rare variations (RVs) of PHPT-related genes were found in 42.5% (17/40) of all cases with genetic testing. Compared with no-variation group, the variation group had higher incidence of multiple parathyroid lesions (42.8% vs. 4.3%, P = 0.014), and lower rate of benign lesions and higher rate of recurrence and persistence.</p><p><strong>Conclusion: </strong>Milder cases of Pediatric PHPT are coming to clinical attention probably due to routine lab testing. Genetic testing is recommended for pediatric PHPT patients.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"967-978"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"PCOS - the many faces of a disorder in women and men.","authors":"Naz Guleray Lafci, Bulent Yilmaz, Bulent Okan Yildiz","doi":"10.1007/s40618-024-02512-1","DOIUrl":"10.1007/s40618-024-02512-1","url":null,"abstract":"<p><strong>Purpose: </strong>Polycystic ovary syndrome (PCOS) is a very common endocrine, metabolic and reproductive disorder. The underlying pathophysiology is not yet fully understood and both genetic and environmental factors contribute to its development. We aimed to explore clinical and genetic aspects of familial clustering in PCOS, shedding light on its reproductive and metabolic consequences in both male and female first-degree relatives of the affected women.</p><p><strong>Methods: </strong>Searching the electronic database of PubMed up to October 2023, we synthesized findings from available prospective and retrospective studies and review articles, investigating the familial clustering of PCOS and incorporating data on its metabolic consequences and genetic associations.</p><p><strong>Results: </strong>There is a significant clustering of reproductive and metabolic abnormalities in first-degree relatives of women with PCOS. Genetic studies, including genome-wide association studies (GWAS), reveal a complex molecular etiology, emphasizing polygenic architecture. This is supported by the identification of two distinct PCOS subtypes, termed \"reproductive\" and \"metabolic\" which exhibit differential genetic underpinnings.</p><p><strong>Conclusion: </strong>Clinicians should be aware of increased reproductive and metabolic dysfunction both in female and male first-degree relatives of PCOS probands. Current challenges include refining genetic risk scores and understanding the impact of PCOS genetic factors on diverse outcomes, necessitating a sex-specific approach in research and clinical practice. Future directions should address causality, improve diagnostic capability, and unravel the long-term consequences in both genders, emphasizing the importance of proactive clinical assessment in PCOS probands and their families.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"785-798"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnostic delay, older age, and hormonal levels at diagnosis affect disease burden and mortality in acromegaly.","authors":"Valentina Gasco, Nunzia Prencipe, Daniela Cuboni, Emanuele Varaldo, Michela Sibilla, Luigi Simone Aversa, Alessandro Maria Berton, Fabio Bioletto, Ezio Ghigo, Silvia Grottoli, Mauro Maccario","doi":"10.1007/s40618-024-02519-8","DOIUrl":"10.1007/s40618-024-02519-8","url":null,"abstract":"<p><strong>Purpose: </strong>Acromegaly, a rare disease with peak incidence in early adulthood, is marked by significant diagnostic delay and increased mortality due to complications. While older patients often show milder disease activity, they experience longer diagnostic delay. Higher hormonal levels, advanced age, and prolonged delay are associated with more systemic complications. The interplay between hormonal levels, age at diagnosis, and diagnostic delay on disease activity and complications remains unclear. This study aimed to assess the hormonal and cardiometabolic features, as well as mortality, of acromegaly based on diagnostic delay and age at diagnosis.</p><p><strong>Methods: </strong>A retrospective study of 203 acromegalic patients, stratified by age at diagnosis (< 65 years, n = 175; ≥ 65 years, n = 28) and diagnostic delay (≤ 5 years, n = 103; > 5 years, n = 100). Data on clinical and hormonal profiles, cardiometabolic complications, and mortality were analyzed.</p><p><strong>Results: </strong>In multivariate analysis, age at diagnosis and diagnostic delay did not predict higher IGF-I SDS, which was associated only with male gender (OR 3.70, p = 0.001) and cardiometabolic burden (OR 3.36, p = 0.02). Younger age (OR 0.94, p = 0.000) and longer diagnostic delay (OR 1.15, p = 0.002) correlated with higher GH levels. Older age (OR 1.12, p = 0.000) and higher IGF-I SDS (OR 3.06, p = 0.02) were linked to greater cardiometabolic burden. Mortality was higher in older patients (OR 1.03, p = 0.03) and those with longer diagnostic delay (OR 1.10, p = 0.02).</p><p><strong>Conclusions: </strong>1) older age at diagnosis strongly impacts cardiometabolic complications, while diagnostic delay has a lesser effect; 2) male gender, older age, diagnostic delay, and cardiometabolic burden predict hormonal disease burden; 3) older age and IGF-I SDS predict cardiometabolic complications; 4) mortality is predicted by older age and prolonged diagnostic delay.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"919-929"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana Luz Tobaruela-Resola, José Ignacio Riezu-Boj, Fermín I Milagro, Paola Mogna-Pelaez, José I Herrero, Mariana Elorz, Alberto Benito-Boillos, Josep A Tur, J Alfredo Martínez, Itziar Abete, María Ángeles Zulet
{"title":"Circulating microRNA panels in subjects with metabolic dysfunction-associated steatotic liver disease after following a 2-year dietary intervention.","authors":"Ana Luz Tobaruela-Resola, José Ignacio Riezu-Boj, Fermín I Milagro, Paola Mogna-Pelaez, José I Herrero, Mariana Elorz, Alberto Benito-Boillos, Josep A Tur, J Alfredo Martínez, Itziar Abete, María Ángeles Zulet","doi":"10.1007/s40618-024-02499-9","DOIUrl":"10.1007/s40618-024-02499-9","url":null,"abstract":"<p><strong>Purpose: </strong>Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) affects one-third of the global population. Despite its high prevalence, there is a lack of minimally non-invasive diagnostic methods to assess this condition. This study explores the potential of circulating microRNAs (miRNAs) as diagnostic biomarkers for MASLD after a 2-year nutritional intervention.</p><p><strong>Methods: </strong>Fifty-five subjects with steatosis (MASLD group) from the Fatty Liver in Obesity (FLiO) study (NCT03183193) were analyzed at baseline and after 6, 12 and 24 months. Participants were classified into two groups: those who still had steatosis after the intervention (unhealthy group) and those in whom steatosis had disappeared (healthy group). Hepatic status was evaluated through magnetic resonance imaging (MRI), ultrasonography, elastography and serum transaminases. Circulating miRNA levels were measured by RT-PCR.</p><p><strong>Results: </strong>The dietary intervention was able to modulate the expression of circulating miRNAs after 6, 12, and 24 months. Logistic regression analyses revealed that the most effective panels for diagnosing whether MASLD has disappeared after the nutritional intervention included miR15b-3p, miR126-5p and BMI (AUC 0.68) at 6 months, miR29b-3p, miR122-5p, miR151a-3p and BMI (AUC 0.85) at 12 months and miR21-5p, miR151a-3p and BMI at 24 months (AUC 0.85).</p><p><strong>Conclusions: </strong>Circulating miRNAs were useful in predicting MASLD in subjects with overweight or obesity after following a weight-loss oriented nutritional intervention. These findings highlight the potential role of miRNAs in diagnosing MASLD and underscore the importance of precision nutrition in managing and determining MASLD.</p><p><strong>Clinical trial registration: </strong>Trial registration number: NCT03183193 (www.</p><p><strong>Clinicaltrials: </strong>gov).</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"987-1003"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950055/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644647","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}
Xueling Zhou, Ning Dai, Dandan Yu, Tong Niu, Shaohua Wang
{"title":"Development and validation of Galectin-3 and CVAI-based model for predicting cognitive impairment in type 2 diabetes.","authors":"Xueling Zhou, Ning Dai, Dandan Yu, Tong Niu, Shaohua Wang","doi":"10.1007/s40618-024-02506-z","DOIUrl":"10.1007/s40618-024-02506-z","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to develop a predictive model combining multiple indicators to quantify the risk of mild cognitive impairment (MCI) in T2DM patients.</p><p><strong>Methods: </strong>This study included Chinese T2DM patients who were hospitalized at Zhongda Hospital between November 2021 and May 2023. Clinical data, including demographics, medical history, biochemical tests, and cognitive status, were collected. Cognitive assessment was performed using neuropsychological tests, and MCI was diagnosed based on the Montreal Cognitive Assessment (MoCA) scores. The dataset was randomly divided into a training set and a validation set in a 7:3 ratio. Logistic regression analysis was conducted to identify factors influencing MCI in the training set. A nomogram-based scoring model was then developed by integrating these findings with high-risk clinical variables, and its performance was validated in the validation set.</p><p><strong>Results: </strong>In this study, T2DM patients were divided into a training set and a validation set in a 7:3 ratio. There were no significant differences in MCI incidence, demographics, or clinical characteristics between the two groups, confirming the appropriateness of model construction. In the training set, Galectin-3 and CVAI were significantly negatively correlated with cognitive function (MoCA and MMSE scores), and this negative correlation remained after adjusting for confounding variables. Logistic regression analysis revealed that age, CVAI, and Galectin-3 significantly increased the risk of MCI, while years of education had a protective effect. The constructed nomogram model, which integrated age, sex, education level, hypertension, CVAI, and Galectin-3 levels, exhibited high predictive performance (C-index of 0.816), with AUCs of 0.816 in the training set and 0.858 in the validation set, outperforming single indicators. PR curve analysis further validated the superiority of the nomogram model.</p><p><strong>Conclusion: </strong>The straightforward, highly accurate, and interactive nomogram model developed in this study facilitate the early risk prediction of MCI in individuals with T2DM by incorporating Galectin-3, CVAI, and other common clinical risk factors.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1017-1031"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}