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Microwave ablation permits an effective and safe treatment for lung metastasis of parathyroid carcinoma: A Retrospective Single-Center Study.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-23 DOI: 10.1007/s12020-025-04201-2
Yingyu Chen, An Song, Zhiwei Wang, Liyuan Kou, Yan Jiang, Mei Li, Weibo Xia, Ou Wang, Xiaoping Xing
{"title":"Microwave ablation permits an effective and safe treatment for lung metastasis of parathyroid carcinoma: A Retrospective Single-Center Study.","authors":"Yingyu Chen, An Song, Zhiwei Wang, Liyuan Kou, Yan Jiang, Mei Li, Weibo Xia, Ou Wang, Xiaoping Xing","doi":"10.1007/s12020-025-04201-2","DOIUrl":"https://doi.org/10.1007/s12020-025-04201-2","url":null,"abstract":"<p><strong>Purpose: </strong>Metastatic parathyroid carcinoma (PC) is rare and hard to treat. Minimally invasive alternatives to surgery are needed. We aimed to evaluate the effectiveness and safety of microwave ablation (MWA) for lung metastases from PC.</p><p><strong>Methods: </strong>This retrospective study analyzed data from PC patients undergoing percutaneous MWA for lung metastases at a Chinese tertiary hospital. Primary outcomes included changes in corrected serum calcium (ΔCSC) and parathyroid hormone (ΔPTH), with influencing factors being assessed. Adverse events were also recorded.</p><p><strong>Results: </strong>Six patients received 15 MWA procedures for 21 lung metastases. Serum PTH levels decreased by 40.5 ± 21.5%, with a ΔPTH of 321.1 (240.0, 433.0) pg/mL. CSC levels dropped by 0.27 ± 0.25 mmol/L (P = 0.030), normalizing in 66.7% of MWA sessions. Ablated tumor sizes either reduced slightly or stabilized. The time to reach the lowest PTH and CSC levels was 2.0 (1.0, 7.0) days and 3.0 (1.0, 7.0) days, respectively, with effects lasting 31.5 (19.3, 133.0) days for PTH and 14.0 (14.0, 49.0) days for CSC. Fewer metastases (r = -0.539, P = 0.038; r = -0.660, P = 0.007; respectively) and a higher proportion of ablated nodules (r = 0.568, P = 0.027; r = 0.629, P = 0.012; respectively) were associated with greater PTH and CSC reductions. Common complications included mild pneumothorax and mild hemorrhage (20% each), with no adverse events in about half of the sessions.</p><p><strong>Conclusion: </strong>MWA offers a safe and effective option for treating lung metastases in PC patients when surgery is not feasible.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484526","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}
引用次数: 0
Enhancing diagnostic accuracy of thyroid nodules: integrating self-learning and artificial intelligence in clinical training.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-20 DOI: 10.1007/s12020-025-04196-w
Daham Kim, Yoon-A Hwang, Youngsook Kim, Hye Sun Lee, Eunjung Lee, Hyunju Lee, Jung Hyun Yoon, Vivian Youngjean Park, Miribi Rho, Jiyoung Yoon, Si Eun Lee, Jin Young Kwak
{"title":"Enhancing diagnostic accuracy of thyroid nodules: integrating self-learning and artificial intelligence in clinical training.","authors":"Daham Kim, Yoon-A Hwang, Youngsook Kim, Hye Sun Lee, Eunjung Lee, Hyunju Lee, Jung Hyun Yoon, Vivian Youngjean Park, Miribi Rho, Jiyoung Yoon, Si Eun Lee, Jin Young Kwak","doi":"10.1007/s12020-025-04196-w","DOIUrl":"https://doi.org/10.1007/s12020-025-04196-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study explores a self-learning method as an auxiliary approach in residency training for distinguishing between benign and malignant thyroid nodules.</p><p><strong>Methods: </strong>Conducted from March to December 2022, internal medicine residents underwent three repeated learning sessions with a \"learning set\" comprising 3000 thyroid nodule images. Diagnostic performances for internal medicine residents were assessed before the study, after every learning session, and for radiology residents before and after one-on-one education, using a \"test set,\" comprising 120 thyroid nodule images. Finally, all residents repeated the same test using artificial intelligence computer-assisted diagnosis (AI-CAD).</p><p><strong>Results: </strong>Twenty-one internal medicine and eight radiology residents participated. Initially, internal medicine residents had a lower area under the receiver operating characteristic curve (AUROC) than radiology residents (0.578 vs. 0.701, P < 0.001), improving post-learning (0.578 to 0.709, P < 0.001) to a comparable level with radiology residents (0.709 vs. 0.735, P = 0.17). Further improvement occurred with AI-CAD for both group (0.709 to 0.755, P < 0.001; 0.735 to 0.768, P = 0.03).</p><p><strong>Conclusion: </strong>The proposed iterative self-learning method using a large volume of ultrasonographic images can assist beginners, such as residents, in thyroid imaging to differentiate benign and malignant thyroid nodules. Additionally, AI-CAD can improve the diagnostic performance across varied levels of experience in thyroid imaging.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469791","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}
引用次数: 0
Effect of semaglutide with obesity or overweight individuals without diabetes: an Umbrella review of systematic reviews.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-16 DOI: 10.1007/s12020-025-04179-x
Xiaoye Hu, Yongsheng Wang, Kehu Yang, Xiuxia Li
{"title":"Effect of semaglutide with obesity or overweight individuals without diabetes: an Umbrella review of systematic reviews.","authors":"Xiaoye Hu, Yongsheng Wang, Kehu Yang, Xiuxia Li","doi":"10.1007/s12020-025-04179-x","DOIUrl":"https://doi.org/10.1007/s12020-025-04179-x","url":null,"abstract":"<p><strong>Objective: </strong>Summarize the effectiveness and safety of Semaglutide for non-diabetic obese patients through umbrella analysis.</p><p><strong>Methods: </strong>From inception to May 2024, we searched PubMed, EMbase, Web of Science, and The Cochrane Library for a systematic review and meta-analysis of semaglutide in non-diabetic obesity. AMSTAR-2 assessed review quality, ROB scrutinized RCT quality, and RCTs were selected based on overlap. Random-effects meta-analysis synthesized data on weight, waist, BMI, ect.</p><p><strong>Results: </strong>The study encompassed 7 reviews and 10 RCTs, revealing that semaglutide induced average weight loss 11.71 kg [-13.16, -10.26] in non-diabetic obese patients, a 12.79% reduction [-14.4, -11.18]. Notably, ≥5, ≥10, ≥15, and ≥20% weight-loss rates significantly increased. Semaglutide also reduced waist by 9.39 cm [-10, -8.79], BMI by 4.27 kg/m^2 [-4.78, -3.75], SBP by 4.78 mmHg [-5.63, -3.93], DBP by 2.56 mmHg [-3.96, -1.17], and lipids by 3.2 mmol/l [-5.65, -0.75]. FBG significantly dropped by 5.46 mmol/l [-8.99, -1.93], and SF-36 scores improved by 1.7 points [0.78, 2.63]. However, common adverse reactions included nausea [RR: 2.59], diarrhea [RR: 1.77], and constipation [RR: 2.07].</p><p><strong>Conclusions: </strong>Semaglutide shows significant weight loss and health benefits in non-diabetic obesity. However, Recent studies show semaglutide can cause NAION and erectile dysfunction, beyond previously reported adverse reactions. Besides, High overlap in current research highlights a lack of RCTs. And there is a high degree of heterogeneity across included studies. More large-scale, rigorous RCTs are needed to assess safety and support clinical use.</p><p><strong>Register: </strong>The study was registered at PROSPERO on 24 December 2023 (registration number:CRD42023493235).</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426540","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}
引用次数: 0
Comparison of the clinical significance of lymphocyte-based inflammatory indices between the two major subtypes of primary aldosteronism.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-15 DOI: 10.1007/s12020-025-04193-z
Daisuke Watanabe, Satoshi Morimoto, Noriko Morishima, Atsuhiro Ichihara
{"title":"Comparison of the clinical significance of lymphocyte-based inflammatory indices between the two major subtypes of primary aldosteronism.","authors":"Daisuke Watanabe, Satoshi Morimoto, Noriko Morishima, Atsuhiro Ichihara","doi":"10.1007/s12020-025-04193-z","DOIUrl":"https://doi.org/10.1007/s12020-025-04193-z","url":null,"abstract":"<p><strong>Purpose: </strong>Primary aldosteronism (PA) can be classified into aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA) and is related to chronic inflammatory diseases. We compared lymphocyte-based inflammatory indices among patients with APA, IHA and essential hypertension (EH), and investigated the relationships between these indices and background factors in patients with PA.</p><p><strong>Methods: </strong>A total of 186 patients (39 with APA, 48 with IHA, and 99 with blood-pressure-matched EH) were retrospectively included. Neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR) were calculated as lymphocyte-based inflammatory indices.</p><p><strong>Results: </strong>Lymphocyte count was lower in the APA group than in the IHA and EH groups. NLR and PLR were significantly higher in the APA group than in the IHA and EH groups. In the APA group, NLR correlated positively with plasma aldosterone concentration after the saline infusion test, while in the IHA group, NLR correlated positively with body mass index and negatively with flow-mediated dilation. Lymphocyte-based inflammatory indices did not differ significantly between KCNJ5-mutant and wild-type groups. NLR, MLR, and PLR remained unchanged from baseline to 1 week after adrenalectomy (ADX), but a cut-off baseline MLR of 0.18 was predictive of complete clinical success after ADX (sensitivity, 0.8095; specificity, 0.7222; area under the curve, 0.719).</p><p><strong>Conclusion: </strong>Lymphocyte-based inflammatory indices showed distinct patterns in patients with APA and IHA. This study provides a better understanding of the implications of complete blood cell counts in patients with PA.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426538","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}
引用次数: 0
Intricate diagnosis due to falsely elevated testosterone levels by immunoassay.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-13 DOI: 10.1007/s12020-025-04191-1
Benedetta Gardini, Marta Bondanelli, Alessio Cariani, Maria Chiara Zatelli, Maria Rosaria Ambrosio
{"title":"Intricate diagnosis due to falsely elevated testosterone levels by immunoassay.","authors":"Benedetta Gardini, Marta Bondanelli, Alessio Cariani, Maria Chiara Zatelli, Maria Rosaria Ambrosio","doi":"10.1007/s12020-025-04191-1","DOIUrl":"https://doi.org/10.1007/s12020-025-04191-1","url":null,"abstract":"<p><strong>Purpose: </strong>Hormone immunoassay may be subject to interferences and, although rarely reported, this can occur for testosterone too. This work is aimed to highlight the importance of considering possible analytical interferences when the biochemical data doesn't match with the clinical picture.</p><p><strong>Methods: </strong>We report three cases of insidious diagnosis due to laboratory interference in testosterone immunoassay, and we provide a brief literature review on this issue.</p><p><strong>Results: </strong>We found falsely high testosterone levels due to the presence of heterophilic antibodies, leading to unnecessary investigations, misdiagnosis and inappropriate treatments.</p><p><strong>Conclusion: </strong>The detection of elevated testosterone levels on immunoassay not corresponding to clinical findings need to be confirmed by liquid chromatography-tandem mass spectroscopy, prior to escalation of complex diagnostic investigation and care.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143415971","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}
引用次数: 0
The monocyte/HDLc ratio and LDLc are two independent predictors of the response of Graves' ophthalmopathy patients to parenteral glucocorticoids.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-13 DOI: 10.1007/s12020-025-04185-z
Rosario Le Moli, Adriano Naselli, Tommaso Piticchio, Andrea Tumminia, Francesco Pallotti, Antonino Belfiore, Francesco Frasca
{"title":"The monocyte/HDLc ratio and LDLc are two independent predictors of the response of Graves' ophthalmopathy patients to parenteral glucocorticoids.","authors":"Rosario Le Moli, Adriano Naselli, Tommaso Piticchio, Andrea Tumminia, Francesco Pallotti, Antonino Belfiore, Francesco Frasca","doi":"10.1007/s12020-025-04185-z","DOIUrl":"https://doi.org/10.1007/s12020-025-04185-z","url":null,"abstract":"<p><strong>Purpose: </strong>Graves' ophthalmopathy (GO) is an inflammatory-autoimmune disease and parenteral glucocorticoids (IvGCs) are the first-line therapy in the moderate to severe forms. Oxidative stress (OX) and cholesterol have been related to severe forms and to the clinical outcome of GO. Recently some new biomarkers have been proposed as predictors of the clinical outcome in some cardiovascular and autoimmune diseases. We hypothesized that the monocyte-to-high-density lipoprotein cholesterol (HDL) ratio (MHR) could be a useful biomarker in GO management and aimed to evaluate the possible role of the MHR as a predictor of the clinical outcome in patients with active, moderate to severe GO treated with IvGCs.</p><p><strong>Methods: </strong>We retrospectively studied 115 patients, 86 females and 29 males, with active, moderate to severe GO who were treated with IvGCs for 12 weeks at our institution. GO severity was evaluated according to EUGOGO suggestions, GO clinical activity and the clinical outcome of GO to IvGCs were evaluated by the seven-point Clinical Activity Score (CAS).</p><p><strong>Results: </strong>The baseline low density lipoproteins cholesterol (LDLc) and MHR were negatively and independently related to the improvement of GO at 12 weeks (p = 0.024 and p = 0.012, respectively). The value of the MHR = 0.0095 was identified as the best cut off by ROC curve and appeared to be a potentially useful tool to help identify patients with a poor response to IvGCs.</p><p><strong>Conclusions: </strong>The MHR might be an useful tool to manage the immunosuppressant therapy in GO patients; our study confirms the role of LDLc as a predictor of GO outcome after IvGCs treatment.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411049","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}
引用次数: 0
Multifaceted skeletal effects of sevelamer carbonate in a secondary hyperparathyroidism model.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-07 DOI: 10.1007/s12020-025-04180-4
Shivani Sharma, Saroj Kumar, Manendra Singh Tomar, Divya Chauhan, Sreyanko Sadhukhan, Chirag Kulkarni, Swati Rajput, Konica Porwal, Rajdeep Guha, Ashutosh Shrivastava, Jiaur R Gayen, Navin Kumar, Naibedya Chattopadhyay
{"title":"Multifaceted skeletal effects of sevelamer carbonate in a secondary hyperparathyroidism model.","authors":"Shivani Sharma, Saroj Kumar, Manendra Singh Tomar, Divya Chauhan, Sreyanko Sadhukhan, Chirag Kulkarni, Swati Rajput, Konica Porwal, Rajdeep Guha, Ashutosh Shrivastava, Jiaur R Gayen, Navin Kumar, Naibedya Chattopadhyay","doi":"10.1007/s12020-025-04180-4","DOIUrl":"https://doi.org/10.1007/s12020-025-04180-4","url":null,"abstract":"<p><strong>Introduction: </strong>Hyperphosphatemia leads to abnormal mineralization of bones and soft tissues in patients with chronic kidney disease-induced secondary hyperparathyroidism (CKD-SHPT). Sevelamer lowers phosphate levels by binding to dietary phosphate in the gastrointestinal system, forming new bone and reducing the risk of renal osteodystrophy and fracture. However, the influence of sevelamer carbonate (SevC) on bone microarchitecture, material qualities, and mechanical behavior is unknown in CKD-SHPT conditions.</p><p><strong>Material and methods: </strong>We utilized a rat model of CKD-induced hyperphosphatemia by feeding a 1.8% high-phosphate diet to 5/6 nephrectomized rats to test the effects of SevC on skeletal quality and strength, employing microCT, Fourier transform infrared spectroscopy (FTIR), 3-point bending, nanoindentation, and compression tests.</p><p><strong>Results: </strong>SevC preserved mineral homeostasis and reduced PTH, and FGF-23 levels in CKD-SHPT rats. SevC mitigated the serum renal parameters, pyrophosphate levels, and indole acetic acid. In CKD-SHPT rats, SevC reduced hyperphosphatemia, improved the mineralization defect, and upregulated mineralization-promoting genes like ankyrin-1, ectonucleotide-pyrophosphatase/phosphodiesterase-1, tissue non-specific alkaline phosphatase, phosphate-regulating endopeptidase X-linked, dentin matrix protein-1, and matrix extracellular phosphoglycoprotein. In the cortical bones of CKD-SHPT rats, SevC increased cortical mass and thickness, decreased porosity by likely decreasing cortical bone remodeling induced by high PTH, and increased osteocyte preservation. SevC mitigated all of the alterations in the mineral and matrix composition of CKD-SHPT rats, including decreased collagen-maturity, mineral-to-matrix ratio, and increased carbonate substitution of hydroxyapatite crystals. SevC enhanced bone strength and mechanical behavior in CKD-SHPT rats at a macro (three-point bending) and nano (nanoindentation) scales.</p><p><strong>Conclusion: </strong>These findings in CKD-SHPT rats suggest that SevC improves bone mechanical properties at various levels by decreasing serum pyrophosphate, empty lacunae, and enhancing renal clearance of indole acetic acid, organized mineral-matrix deposition, and osteocyte number by suppressing cortical remodeling.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143365537","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}
引用次数: 0
Temozolomide as neoadjuvant therapy for bladder paraganglioma.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-07 DOI: 10.1007/s12020-025-04174-2
Yi Liu, Congwei Jia, Zhan Wang, Yushi Zhang
{"title":"Temozolomide as neoadjuvant therapy for bladder paraganglioma.","authors":"Yi Liu, Congwei Jia, Zhan Wang, Yushi Zhang","doi":"10.1007/s12020-025-04174-2","DOIUrl":"https://doi.org/10.1007/s12020-025-04174-2","url":null,"abstract":"<p><p>Bladder Paraganglioma (BPG) is a rare form of pheochromocytoma and paraganglioma (PPGL) characterized by elevated blood pressure when urinating, headache, dizziness, palpitations, and hematuria. Surgical resection is the most commonly used treatment for BPG. Here, we reporte a man who initially presented with hypogastralgia and hematuria and was diagnosed as BPG at local hospital. The size of mass was too huge to receive partial cystectomy at diagnosis. Then this patient was referred to our medical center. After evaluation, we chose temozolomide as neoadjuvant therapy to reduce the tumor size. Followed by seven cycles of temozolomide, the tumor was decreased and was successfully removed via partial cystectomy.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371202","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}
引用次数: 0
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-06 DOI: 10.1007/s12020-024-04097-4
R Chimenz, C Columbu, F Pugliese, A Arena, L Bonifazi Meffe, V Carbone, D Concolino, L di Filippo, C Eller-Vainicher, R Fischetto, A F Giannotta, A Giustina, G Gori, A Lampis, L Monti, A M Naciu, A Palermo, O Palumbo, R Pracella, I Rutigliano, M Sacco, A S Salcuni, S Sestito, G Tabacco, G Vinci, M Castori, A Scillitani, V Guarnieri
{"title":"Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.","authors":"R Chimenz, C Columbu, F Pugliese, A Arena, L Bonifazi Meffe, V Carbone, D Concolino, L di Filippo, C Eller-Vainicher, R Fischetto, A F Giannotta, A Giustina, G Gori, A Lampis, L Monti, A M Naciu, A Palermo, O Palumbo, R Pracella, I Rutigliano, M Sacco, A S Salcuni, S Sestito, G Tabacco, G Vinci, M Castori, A Scillitani, V Guarnieri","doi":"10.1007/s12020-024-04097-4","DOIUrl":"https://doi.org/10.1007/s12020-024-04097-4","url":null,"abstract":"<p><strong>Purpose: </strong>Rickets is a rare bone disorder due to altered calcium, vitamin D, and phosphorus metabolism, caused by nutritional deficiencies or, in 13% of cases, genetic origin. Few data are available on an Italian cohort of rickets.</p><p><strong>Methods: </strong>Twenty-four patients with confirmed low serum phosphorus levels and reduced renal tubular phosphate reabsorption were recruited from different tertiary care centres over the last 5 years. Biochemical, clinical, and anamnestic data were also collected. DNA was extracted and subjected to targeted next-generation sequencing.</p><p><strong>Results: </strong>Twenty-four single-nucleotide variants were identified in the PHEX (eight pathogenic, five likely pathogenic, three variants of uncertain significance), CYP27B1 (two pathogenic, four likely pathogenic), and SLC34A3 (one pathogenic, one likely pathogenic) genes. Five large genomic deletions involving one or more PHEX exons were detected. Eight of 20 PHEX and both SLC34A3 variants were novel, and segregation analysis identified 11 familial and three de novo cases. Biochemical data confirmed high serum alkaline phosphatase and low 25-hydroxyvitamin D<sub>3</sub> levels, whereas the main clinical manifestations were short stature (76.1%), bone deformities (85.7%), musculoskeletal pain (71.4%), and muscle weakness (55.5%).</p><p><strong>Conclusions: </strong>Our study provides clinical and genetic descriptions of rickets in a cohort of Italian patients. Moreover, we expanded the spectrum of mutations associated with the genetic forms of this disorder and suggested a high-throughput sequencing approach to provide a molecular diagnosis for adequate follow-up of patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366744","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}
引用次数: 0
Whole-body effective half-life of radioiodine in children and young adults with papillary thyroid cancer.
IF 3 3区 医学
Endocrine Pub Date : 2025-02-02 DOI: 10.1007/s12020-025-04183-1
Yizhuo Wei, Wei Zhang, Taipeng Du, Yu Wang, Bin Liu
{"title":"Whole-body effective half-life of radioiodine in children and young adults with papillary thyroid cancer.","authors":"Yizhuo Wei, Wei Zhang, Taipeng Du, Yu Wang, Bin Liu","doi":"10.1007/s12020-025-04183-1","DOIUrl":"https://doi.org/10.1007/s12020-025-04183-1","url":null,"abstract":"<p><strong>Purpose: </strong>The lack of radioiodine-131 (RAI) kinetic study is a serious challenge for rational dosing for children and young adults (CYAs) with papillary thyroid cancer (PTC). The present study was conducted to investigate the whole-body effective half-life (EHL) and absorbed dose in RAI ablative therapy of CYAs with PTC.</p><p><strong>Methods: </strong>In the period 2017-2022, all consecutive PTC patients 20 years or younger prepared for ablative RAI therapy after thyroid hormone withdrawal were prospectively recruited. Serial whole-body dose-rate measurements after administration were performed to deduce whole-body RAI retention. Calculations based on the deduced whole-body retention and the schema of Medical Internal Radiation Dosimetry were derived to determine whole-body EHL and absorbed doses. A multivariate linear regression analysis was employed to assess the association between whole-body EHL and potential predictors.</p><p><strong>Results: </strong>A total of 52 patients (median age 17 years [range, 6-20 years]) were recruited. The mean whole-body EHL (±SD) was 10.3 (3.3) hours (median, 9.4 h [range, 6.3-21.7 h]). In univariable linear regression analysis, whole-body EHL was significantly associated with gender, body surface area (BSA) and body mass index (p < 0.05). Creatinine, Cystatin C, glomerular filtration rate (GFR) and positive post-ablation scintigraphy approached significance with respect to EHL (p ≤ 0.2 and ≥0.05). At multivariable analysis, BSA, GFR and positive post-ablation scintigraphy was associated with EHL. A median activity of 3.7 GBq of RAI (range, 1.85-7.40 GBq) was administered and a median whole-body absorbed dose of 0.22 Gy was delivered (range, 0.11-0.79 Gy).</p><p><strong>Conclusion: </strong>A wide variation of whole-body EHL was observed in CYAs with PTC treated with RAI. The whole-body EHL is significantly longer in CYAs with larger BSA, decreased GFR and presence of extra-thyroidal disease. Understanding these predictors may improve our ability to dosing strategies in RAI therapy of CYAs with PTC.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076075","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}
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