Journal of Endocrinological Investigation最新文献

{"title":"Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.","authors":"Thomas De Coster, Karel David, Jeroen Breckpot, Brigitte Decallonne","doi":"10.1007/s40618-024-02496-y","DOIUrl":"10.1007/s40618-024-02496-y","url":null,"abstract":"<p><strong>Purpose: </strong>Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria. New treatments such as PTH analogues and calcilytics directly targeting the CASR are in the pipeline. Specific clinical guidance for treatment and monitoring of ADH1 patients is lacking. The purpose of this study is to provide a literature review on management of ADH1, including new therapies, and to formulate practice recommendations.</p><p><strong>Methods: </strong>We searched for articles and ongoing clinical trials regarding management of ADH1.</p><p><strong>Results: </strong>Forty articles were included. First we review the conventional treatment of ADH1, focusing on active vitamin D, calcium supplements, thiazide diuretics, phosphorus binders and dietary recommendations. In a second part we give an overview of studies with emerging treatments in ADH1: PTH analogues (PTH1-34, rhPTH1-84, TransCon PTH and others) and calcilytics (preclinical studies and clinical trials). In a third part we discuss literature findings regarding monitoring of ADH1 patients. Finally, we formulate clinical practice recommendations.</p><p><strong>Conclusion: </strong>We provide an overview of conventional and new treatments for ADH1 patients. Based on these data, we propose practical recommendations to assist clinicians in the management of ADH1 patients.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"831-844"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741041","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":"Insights into pubertal development: a narrative review on the role of epigenetics.","authors":"Anna-Mariia Shulhai, Anna Munerati, Marialaura Menzella, Paola Palanza, Susanna Esposito, Maria Elisabeth Street","doi":"10.1007/s40618-024-02513-0","DOIUrl":"10.1007/s40618-024-02513-0","url":null,"abstract":"<p><strong>Purpose: </strong>Puberty is a key phase of growth and development, characterized by psychophysical transformations. It is driven by a combination of genetic, hormonal, and environmental variables. Epigenetic mechanisms, including histone post-translational modifications and chromatin remodeling, microRNAs, and DNA methylation, play important roles in orchestrating the developmental processes. We describe environmental factors that may interact with genetics, and factors influencing puberty onset, focusing in particular on epigenetic mechanisms that can help understand the timing and variations that lead to precocious or delayed puberty.</p><p><strong>Methods: </strong>We conducted a narrative review of associations between puberty and epigenetic mechanisms through a comprehensive search of PubMed, Scopus, and Web of Science databases.</p><p><strong>Results: </strong>The chromatin landscape of genes as KISS1 has revealed dynamic changes in histone modifications as puberty approaches, influencing the stimulation or inhibition of gene expression critical for reproductive maturation. MiRNAs regulate gene expression, whereas DNA methylation affects activation or repression of gene transcription of genes involved in pubertal timing. Moreover, studies in animal models have provided insights into the role of DNA methylation and miRNAs in brain sexual differentiation, highlighting the active involvement of epigenetic mechanisms in shaping sexually dimorphic brain structures.</p><p><strong>Conclusion: </strong>This review highlights the importance of understanding the complex interplay between epigenetic regulation and pubertal development, which can lead to new therapeutic options and shed light on the fundamental processes driving reproductive maturation.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"817-830"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865956","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":"Lactobacillus murinus alleviates insulin resistance via promoting L-citrulline synthesis.","authors":"Jianglan Long, Zhe Shi, Zenghui Miao, Linjie Dong, Dan Yan","doi":"10.1007/s40618-024-02500-5","DOIUrl":"10.1007/s40618-024-02500-5","url":null,"abstract":"<p><strong>Aims: </strong>The role of Lactobacillus murinus as a potential probiotic is being explored. Our objectives were to explore the effects of Lactobacillus murinus on insulin resistance and the underlying mechanism.</p><p><strong>Methods: </strong>Insulin resistance animal models were applied to study the effect of L. murinus and the underlying mechanism by six weeks of treatment. Metformin was administered in vitro to analyze the growth and metabolites of L. murinus. Serum metabolites were further analyzed after L. murinus administration. The effect of L-citrulline and the underlying mechanism in alleviating insulin resistance were evaluated.</p><p><strong>Results: </strong>L. murinus not only reduced body weight gain and postprandial blood glucose (PBG) but improved impaired glucose tolerance (IGT) and insulin resistance. Moreover, L. murinus inhibited the secretion of pro-inflammatory factors (IL-1β, IL-6 and TNF-α) while promoted the secretion of anti-inflammatory factor (IL-10). Further, L. murinus promoted the expression of carnitine palmitoyl transferase 1 (CPT1) while inhibited phosphoenolpyruvate carboxykinase (PCK) and glucose-6-phosphatase (G6Pase). A total of 147 metabolites of L. murinus were identified, in which the content of L-citrulline increased to 7.94 times after metformin regulation. Further, the serum concentration of L-citrulline significantly increased after L. murinus administration. Similarly, L-citrulline reduced body weight gain and PBG, improved IGT and insulin resistance. Additionally, L-citrulline improved inflammation, promoted CPT1 while inhibited PCK and G6Pase.</p><p><strong>Conclusions: </strong>L. murinus mediated by L-citrulline alleviated insulin resistance via promoting fatty acid oxidation and inhibiting gluconeogenesis, suggesting that supplementation of L. murinus could be a potential therapeutic approach for type 2 diabetes related to insulin resistance.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1005-1015"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669538","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":"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}

{"title":"Deciphering ¹⁸F-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-[¹⁸F]-fluoro-3,4-dihydroxyphenylalanine (¹⁸F-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>¹⁸F-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 ¹⁸F-DOPA PET radiomics for HNPGLs, suggesting the influence of germline SDH pathogenic variants on ¹⁸F-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}

{"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}

{"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}

{"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}