Antonella Verrienti, Valeria Pecce, Giorgio Grani, Valeria Del Gatto, Samuele Barp, Marianna Maranghi, Laura Giacomelli, Cira Di Gioia, Marco Biffoni, Sebastiano Filetti, Cosimo Durante, Marialuisa Sponziello
{"title":"Serum microRNA-146a-5p and microRNA-221-3p as potential clinical biomarkers for papillary thyroid carcinoma","authors":"Antonella Verrienti, Valeria Pecce, Giorgio Grani, Valeria Del Gatto, Samuele Barp, Marianna Maranghi, Laura Giacomelli, Cira Di Gioia, Marco Biffoni, Sebastiano Filetti, Cosimo Durante, Marialuisa Sponziello","doi":"10.1007/s40618-024-02467-3","DOIUrl":"https://doi.org/10.1007/s40618-024-02467-3","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Papillary thyroid carcinoma (PTC) is the most common malignant thyroid neoplasm, accounting for approximately 85% of all follicular cell-derived thyroid nodules. This study aimed to assess the diagnostic potential of circulating microRNA-146a-5p and microRNA-221-3p as biomarkers for PTC and their usefulness in monitoring disease progression during patient follow-up.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>An observational study was conducted on two cohorts of PTC patients and healthy controls (HCs) using digital PCR. We collected patients’ clinical, biochemical, and imaging data during the post-surgery surveillance. We analyzed the levels of circulating miRNAs in serum samples of patients before surgery and during the follow-up, including those with indeterminate/biochemical incomplete response (IndR/BIR) and residual thyroid tissues (Thy Residue).</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Both miR-146a-5p and miR-221-3p were confirmed as effective biomarkers for PTC diagnosis. They enabled differentiation between pre-surgery PTC patients and HCs with an area under the curve (AUC) of 92% and 87.3%, respectively, using a threshold level of 768,545 copies/uL for miR-146a-5p and 389,331 copies/uL for miR-221-3p. It was found that miRNA fold change levels, rather than absolute levels, can be useful during patient follow-up. In particular, we found that a fold change of 2 for miR-146a-5p and 2.2 for miR-221-3p can identify a progressive disease, regardless of the presence of TgAbs or remnant thyroid.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>MiRNA-146a-5p and miRNA-221-3p, particularly the former, could be valuable diagnostic biomarkers for PTCs. They also seem to be effective in monitoring disease progression during patient follow-up by evaluating their fold change, even when thyroglobulin is uninformative.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"187 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142255568","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}
G. Annunziata, M. Caprio, L. Verde, A. M. Carella, E. Camajani, A. Benvenuto, B. Paolini, L. De Nicola, F. Aucella, V. Bellizzi, S. Barberi, D. Grassi, F. Fogacci, A. Colao, A. F. G. Cicero, F. Prodam, G. Aimaretti, G. Muscogiuri, L. Barrea
{"title":"Nutritional assessment and medical dietary therapy for management of obesity in patients with non-dialysis chronic kidney disease: a practical guide for endocrinologist, nutritionists and nephrologists. A consensus statement from the Italian society of endocrinology (SIE), working group of the club nutrition–hormones and metabolism; the Italian society of nutraceuticals (SINut), club ketodiets and nutraceuticals “KetoNut-SINut”; and the Italian society of nephrology (SIN)","authors":"G. Annunziata, M. Caprio, L. Verde, A. M. Carella, E. Camajani, A. Benvenuto, B. Paolini, L. De Nicola, F. Aucella, V. Bellizzi, S. Barberi, D. Grassi, F. Fogacci, A. Colao, A. F. G. Cicero, F. Prodam, G. Aimaretti, G. Muscogiuri, L. Barrea","doi":"10.1007/s40618-024-02446-8","DOIUrl":"https://doi.org/10.1007/s40618-024-02446-8","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Chronic kidney disease (CKD) is a serious health concern with an estimated prevalence of about 13.4% worldwide. It is cause and consequence of various comorbidities, including cardiovascular diseases. In parallel, common pathological conditions closely related to ageing and unhealthy dietary habits increase the risk of CKD development and progression, including type 2 diabetes and obesity. Among these, obesity is either independent risk factor for new onset kidney disease or accelerates the rate of decline of kidney function by multiple mechanisms. Therefore, the role of diets aimed at attaining weight loss in patients with obesity is clearly essential to prevent CKD as to slow disease progression. Various dietary approaches have been licensed for the medical dietary therapy in CKD, including low-protein diet and Mediterranean diet. Interestingly, emerging evidence also support the use of low-carbohydrate/ketogenic diet (LCD/KD) in these patients. More specifically, LCD/KDs may efficiently promote weight loss, improve metabolic parameters, and reduce inflammation and oxidative stress, resulting in a dietary strategy that act globally in managing collateral conditions that are directly and indirectly related to the kidney function.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>This consensus statement from the Italian Society of Endocrinology (SIE), working group of the Club Nutrition – Hormones and Metabolism; the Italian Society of Nutraceuticals (SINut), Club Ketodiets and Nutraceuticals<i> “KetoNut-SINut”</i>; and the Italian Society of Nephrology (SIN) is intended to be a guide for Endocrinologist, Nutritionists and Nephrologist who deal with the management of patients with obesity with non-dialysis CKD providing a practical guidance on assessing nutritional status and prescribing the optimal diet in order to best manage obesity to prevent CKD and its progression to dialysis.</p><h3 data-test=\"abstract-sub-heading\">Graphical abstract</h3>\u0000","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"31 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142255569","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}
M. Losa, E. Mazza, E. Pedone, G. Nocera, N. Liscia, M. Reni, P. Mortini
{"title":"Targeted therapy in BRAF mutated aggressive papillary craniopharyngioma: a case report and overview of the literature","authors":"M. Losa, E. Mazza, E. Pedone, G. Nocera, N. Liscia, M. Reni, P. Mortini","doi":"10.1007/s40618-024-02382-7","DOIUrl":"https://doi.org/10.1007/s40618-024-02382-7","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Papillary craniopharyngiomas harbor the BRAF V600E mutation, which paves the way for using BRAF inhibitor molecules to treat tumors refractory to standard therapies. Single case reports confirmed the efficacy of targeted therapy. However, most reports were limited by the short follow-up. We describe the long-term course of a patient treated with dual-agent BRAF and MEK inhibitors and review the available literature.</p><h3 data-test=\"abstract-sub-heading\">Case report</h3><p>A 75-year-old male patient had recurrence of a papillary craniopharyngioma after transsphenoidal surgery and Gamma Knife radiosurgery. Review of the pathologic specimen confirmed the presence of the BRAF V600E mutation. Because of the few therapeutic options, we decided to initiate BRAF/MEK inhibitor combined therapy for six months. Rapid reduction of the tumor occurred, but three months after quitting combined medical therapy the tumor recurred. BRAF/MEK inhibitor therapy was resumed and the tumor again showed a marked reduction. The second course was maintained for 20 months and the tumor showed another recurrence within three months, which, again, responded to a third course of targeted therapy.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Our study confirms the excellent response of papillary craniopharyngioma to combined BRAF and MEK inhibitors. However, rapid tumor recurrence is the rule when medical therapy is stopped. Resistance to a second and third course of targeted therapy did not occur, suggesting that tumor mutations affecting the response to drugs seems an uncommon event in papillary craniopharyngioma. The exact role of targeted therapy in the treatment algorithm of papillary craniopharyngiomas has still to be refined.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"6 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140839616","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}
A. Fernandez-Pombo, P. M. Lorenzo, M. C. Carreira, D. Gomez-Arbelaez, A. I. Castro, D. Primo, J. Rodriguez, I. Sajoux, J. Baltar, D. de Luis, D. Bellido, A. B. Crujeiras, F. F. Casanueva
{"title":"A very-low-calorie ketogenic diet normalises obesity-related enhanced levels of erythropoietin compared with a low-calorie diet or bariatric surgery","authors":"A. Fernandez-Pombo, P. M. Lorenzo, M. C. Carreira, D. Gomez-Arbelaez, A. I. Castro, D. Primo, J. Rodriguez, I. Sajoux, J. Baltar, D. de Luis, D. Bellido, A. B. Crujeiras, F. F. Casanueva","doi":"10.1007/s40618-024-02364-9","DOIUrl":"https://doi.org/10.1007/s40618-024-02364-9","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Nutritional ketosis synergistically with body-weight loss induced by a very-low-calorie ketogenic diet (VLCKD) has proven to be effective in improving obesity-related pathophysiology. Recently, growing attention has been focused on the relation between erythropoietin (EPO) and obesity. Thus, this study aims to investigate whether nutritional ketosis and weight loss induced by a VLCKD modify the circulating levels of EPO in patients with obesity in comparison with the effect of low-calorie diet (LCD) or bariatric surgery (BS).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>EPO levels, iron status and body composition parameters were evaluated in 72 patients with overweight or obesity and 27 normal-weight subjects at baseline and after the three different weight-reduction therapies (VLCKD, LCD and BS) in 69 patients with excess body weight. β-hydroxybutyrate levels were also measured in the VLCKD group. The follow-up was established at 2–3 months and 4–6 months.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>It was found that EPO levels were higher in morbid obesity and correlated with higher basal weight, fat mass (FM) and fat-free mass (FFM) in the overall sample. High baseline EPO levels were also correlated with higher impact on the course of weight loss and changes in FM and FFM induced by the three weight-loss interventions. Furthermore, the VLCKD induced a decrease in EPO levels coinciding with maximum ketosis, which was maintained over time, while statistically significant changes were not observed after LCD and BS.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>The obesity-related increased EPO levels are restored after VLCKD intervention at the time of maximum ketosis, suggesting a potential role of the nutritional ketosis induced by the VLCKD. Baseline EPO levels could be a biomarker of response to a weight-loss therapy.</p><h3 data-test=\"abstract-sub-heading\">Graphical abstract</h3>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"96 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140839619","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}
R. Pivonello, M. Fleseriu, J. Newell-Price, A. Shimatsu, R. A. Feelders, P. Kadioglu, A. Tabarin, T. C. Brue, E. B. Geer, A. Piacentini, A. M. Pedroncelli, B. M. K. Biller
{"title":"Improvement in clinical features of hypercortisolism during osilodrostat treatment: findings from the Phase III LINC 3 trial in Cushing's disease","authors":"R. Pivonello, M. Fleseriu, J. Newell-Price, A. Shimatsu, R. A. Feelders, P. Kadioglu, A. Tabarin, T. C. Brue, E. B. Geer, A. Piacentini, A. M. Pedroncelli, B. M. K. Biller","doi":"10.1007/s40618-024-02359-6","DOIUrl":"https://doi.org/10.1007/s40618-024-02359-6","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Cushing’s disease is associated with substantial morbidity and impaired quality of life (QoL) resulting from excess cortisol exposure. The current study explored improvements in clinical signs and additional specific manifestations of hypercortisolism during osilodrostat (potent oral 11β-hydroxylase inhibitor) therapy by degree of control of mean urinary free cortisol (mUFC).</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>LINC 3 (NCT02180217) was a prospective, open-label, 48-week study of osilodrostat (starting dose: 2 mg bid; maximum: 30 mg bid) that enrolled 137 adults with Cushing’s disease and mUFC > 1.5 times the upper limit of normal (ULN). mUFC (normal range 11‒138 nmol/24 h), cardiometabolic parameters (blood pressure, weight, waist circumference, body mass index, total cholesterol, fasting plasma glucose, glycated haemoglobin), physical manifestations of hypercortisolism (facial rubor, striae, fat distribution, bruising, hirsutism [females], muscle atrophy) and QoL were evaluated. mUFC was defined as controlled if ≤ ULN, partially controlled if > ULN but ≥ 50% reduction from baseline, and uncontrolled if > ULN and < 50% reduction from baseline. Concomitant medications were permitted throughout the study.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>At weeks 24 and 48, respectively, mUFC was controlled in 93 (67.9%) and 91 (66.4%) patients, partially controlled in 20 (14.6%) and 13 (9.5%), and uncontrolled in 24 (17.5%) and 33 (24.1%). Overall, mean improvements from baseline in cardiometabolic at week 24 were greater in patients with controlled or partially controlled versus uncontrolled mUFC; at week 48, improvements occurred irrespective of mUFC control. Generally, physical manifestations and QoL progressively improved from baseline irrespective of mUFC control.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Improvements in clinical signs and additional specific manifestations of hypercortisolism associated with Cushing’s disease occurred alongside decreases in mUFC.</p><p><i>Trial registration</i> NCT02180217 (first posted July 2014).</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"96 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140839612","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":"FBXO28 reduces high-fat diet-induced hyperlipidemia in mice by alleviating abnormal lipid metabolism and inflammatory responses","authors":"J. Sun, B. Du, M. Chen, J. Jia, X. Wang, J. Hong","doi":"10.1007/s40618-024-02376-5","DOIUrl":"https://doi.org/10.1007/s40618-024-02376-5","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Hyperlipidemia is a lipid metabolism disorder with increasing incidence and prevalence worldwide. Abnormal lipid metabolism and inflammation are two significant characteristics of hyperlipidemia. The purpose of this study was to explore the role and mechanism of F-box only protein 28 (FBXO28) in hyperlipidemia.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Mice were fed with high-fat diet (HFD) to elicit obesity, and 3T3-L1 preadipocytes were stimulated with MDI cocktail (IBMX, DEX and insulin) to evoke differentiation. In vivo and in vitro role of FBXO28 in hyperlipidemia was investigated by hematoxylin–eosin and oil Red O staining, the lipid biochemistry measurement, enzyme-linked immunosorbent assay, reverse transcription quantitative polymerase chain reaction and western blotting assays. The mechanism of FBXO28 explored by co-immunoprecipitation, immunofluorescence, ubiquitination and cycloheximide assays.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Low expression of FBXO28 was found in hyperlipidemia in silico, in vivo and in vitro. Upregulation of FBXO28 declined the body weight, fat accumulation, and serum lipid content in HFD-fed mice. Abnormal lipid accumulation, and the level of liposynthetic genes and beta-oxidation related genes were improved by overexpression of FBXO28 both in HFD-elicited mice and MDI-treated 3T3-L1 preadipocytes. Besides, overexpression of FBXO28 declined HFD-induced the level of proinflammatory factors and F4/80. Mechanically, FBXO28 directly bound RAB27A and promoted its ubiquitinated degradation. Thus, upregulation of RAB27A inverted the improved role of FBXO28 in abnormal lipid metabolism and inflammation in vivo and in vitro.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>FBXO28 ameliorated abnormal lipid metabolism and inflammation through the ubiquitinated degradation of RAB27A, thereby attenuating HFD-induced hyperlipidemia. The results could promote the treatment of hyperlipidemia, and the relevant diseases.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"46 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140839461","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}
Ilaria Stramazzo, Giorgio Mangino, Silvia Capriello, Giovanna Romeo, Silvia Martina Ferrari, Poupak Fallahi, Maria Flavia Bagaglini, Marco Centanni, Camilla Virili
{"title":"CD20 + T lymphocytes in isolated Hashimoto’s thyroiditis and type 3 autoimmune polyendocrine syndrome: a pilot study","authors":"Ilaria Stramazzo, Giorgio Mangino, Silvia Capriello, Giovanna Romeo, Silvia Martina Ferrari, Poupak Fallahi, Maria Flavia Bagaglini, Marco Centanni, Camilla Virili","doi":"10.1007/s40618-024-02370-x","DOIUrl":"https://doi.org/10.1007/s40618-024-02370-x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>CD20<sup>+</sup> T cells represent up to 5% of circulating T lymphocytes. These cells have been shown to produce higher levels of IL-17A and IFN-γ than those of CD20<sup>−</sup> T lymphocytes. Some reports described the role of CD20<sup>+</sup> T cells in autoimmune disorders such as multiple sclerosis and rheumatoid arthritis possibly due to their ability to produce these inflammatory cytokines. This study is aimed at describing the behavior of CD20<sup>+</sup> T lymphocytes in the most frequent autoimmune disorder, i.e., Hashimoto’s thyroiditis (HT), presenting isolated or associated to further autoaggressive disorders in a frame of poly-autoimmunity.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>The study group encompasses 65 HT patients: 23 presenting in isolated form (IT) and 42 with an associated non-endocrine autoimmune disorder [16 with chronic atrophic gastritis (CAG), 15 with nonsegmental vitiligo (VIT), and 11 with celiac disease (CD)]. Twenty healthy donors act as control group (HD). Chronic use of interfering drugs, severe or chronic disorders, and pregnancy and lactation were used as exclusion criteria. Whole blood samples (100 µl) were stained with fluorescent-labeled antibodies (anti-CD45, anti-CD3, anti-CD19, anti-CD16, anti-CD56, anti-CD4, anti-CD8, anti-CD20). Red blood cells were then lysed by adding 1 ml of hypotonic buffer, and samples were acquired on a Flow Cytometer.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>CD3<sup>+</sup>CD8<sup>+</sup>CD20<sup>+</sup> T lymphocytes’ percentages, were significantly higher in the whole group of autoimmune patients compared to healthy donors (<i>p</i> = 0.0145). Dividing HT patients based on the type of presentation of autoimmune thyroiditis, CAG group showed the highest percentage of these cells as compared to HD and CD (<i>p</i> = 0.0058). IT patients showed higher percentages of CD3<sup>+</sup> CD8<sup>+</sup>CD20<sup>+</sup> cells than those of HD patients although not reaching statistical significance. However, dividing IT group based on thyroid function, hypothyroid patients showed higher CD8<sup>+</sup>CD20<sup>+</sup> cell percentages than those of HD and euthyroid patients (<i>p</i> = 0.0111). Moreover, in IT patients, these cells were negatively correlated with FT4 levels (<i>p</i> = 0.0171; <i>r</i> = −0.4921).</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>These preliminary findings indicate that CD8<sup>+</sup>CD20<sup>+</sup> T cells are activated in patients with autoimmune thyroiditis and may behave differently according to the presence of poly-autoimmunity and hypothyroidism.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"31 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623017","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":"Familial states of primary hyperparathyroidism: an update","authors":"F. Cetani, E. Dinoi, L. Pierotti, E. Pardi","doi":"10.1007/s40618-024-02366-7","DOIUrl":"https://doi.org/10.1007/s40618-024-02366-7","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism–jaw tumor (HPT–JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP). The familial forms of PHPT show different levels of PHPT penetrance, developing earlier and with multiglandular involvement compared to sporadic counterpart.</p><p>All these diseases exhibit Mendelian inheritance patterns, and for most of them, the genes responsible have been identified. DNA testing for predisposing mutations is helpful in index cases or in individuals with a high suspicion of the disease. Early recognition of hereditary disorders of PHPT is of great importance for the best clinical and surgical approach. Genetic testing is useful in routine clinical practice because it will also involve appropriate screening for extra-parathyroidal manifestations related to the syndrome as well as the identification of asymptomatic carriers of the mutation.</p><h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>The aim of the review is to discuss the current knowledge on the clinical and genetic profile of these disorders along with the importance of genetic testing in clinical practice.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"26 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140613709","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}
F. Pecori Giraldi, F. Ferraù, M. Ragonese, S. Cannavò
{"title":"Endocrine disruptors, aryl hydrocarbon receptor and cortisol secretion","authors":"F. Pecori Giraldi, F. Ferraù, M. Ragonese, S. Cannavò","doi":"10.1007/s40618-024-02371-w","DOIUrl":"https://doi.org/10.1007/s40618-024-02371-w","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Purpose</h3><p>Endocrine disruptors exert a plethora of effects in endocrine tissues, from altered function to carcinogenesis. Given its lipophilic nature, the adrenal cortex represents an ideal target for endocrine disruptors and thus, possibly, xenobiotic-induced adrenocortical dysfunction. However, there is no clear understanding of the effect of endocrine disruptors on adrenal steroidogenesis, in particular as regards the aryl hydrocarbon receptor (AHR) pathway, one of the key mediators.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>The present review recapitulates available evidence on the effects of AHR ligands on adrenal steroidogenesis, with focus on cortisol secretion.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>Short-term exposure to AHR ligands most often induced a stress-like corticosteroid response followed by decreased responsiveness to stressors with long-term exposure. This was observed in several experimental models across species as well as in animals and humans in real-life settings. Prenatal exposure led to different effects according to sex of the offspring, as observed in murine models and in children from mothers in several countries. In vitro findings proved highly dependent on the experimental setting, with reduced cortisol response and steroidogenic enzyme synthesis mostly observed in fish and increased cortisol synthesis and secretion observed in murine and human adrenal cell lines. Of note, no AHR-binding element was detected in steroidogenic enzyme promoters, suggesting the involvement of additional factors.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>Our review provides evidence for the impact of AHR ligands on adrenocortical function and indicates further avenues of research to better clarify its effects.</p>","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"50 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623026","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}
M. Chianelli, L. Busetto, R. Vettor, B. Annibale, A. Paoletta, E. Papini, A. Albanese, M. Carabotti, D. Casarotto, G. De Pergola, O. E. Disoteo, I. Grandone, G. Medea, E. Nisoli, M. Raffaelli, S. Schiff, F. Vignati, M. Cinquini, M. Gonzalez-Lorenzo, V. A. Fittipaldo, S. Minozzi, M. Monteforte, A. C. Tralongo, R. Novizio, A. Persichetti, I. Samperi, A. Scoppola, G. Borretta, M. Carruba, M. G. Carbonelli, M. De Luca, S. Frontoni, S. G. Corradini, F. Muratori, R. Attanasio
{"title":"Italian guidelines for the management of adult individuals with overweight and obesity and metabolic comorbidities that are resistant to behavioral treatment","authors":"M. Chianelli, L. Busetto, R. Vettor, B. Annibale, A. Paoletta, E. Papini, A. Albanese, M. Carabotti, D. Casarotto, G. De Pergola, O. E. Disoteo, I. Grandone, G. Medea, E. Nisoli, M. Raffaelli, S. Schiff, F. Vignati, M. Cinquini, M. Gonzalez-Lorenzo, V. A. Fittipaldo, S. Minozzi, M. Monteforte, A. C. Tralongo, R. Novizio, A. Persichetti, I. Samperi, A. Scoppola, G. Borretta, M. Carruba, M. G. Carbonelli, M. De Luca, S. Frontoni, S. G. Corradini, F. Muratori, R. Attanasio","doi":"10.1007/s40618-024-02361-y","DOIUrl":"https://doi.org/10.1007/s40618-024-02361-y","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Aim</h3><p>This guideline (GL) is aimed at providing a clinical practice reference for the management of adult patients with overweight or obesity associated with metabolic complications who are resistant to lifestyle modification.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>Surgeons, endocrinologists, gastroenterologists, psychologists, pharmacologists, a general practitioner, a nutritionist, a nurse and a patients’ representative acted as multi-disciplinary panel. This GL has been developed following the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. A systematic review and network meta-analysis was performed by a methodologic group. For each question, the panel identified potentially relevant outcomes, which were then rated for their impact on therapeutic choices. Only outcomes classified as “critical” and “important” were considered in the systematic review of evidence. Those classified as “critical” were considered for clinical practice recommendations. Consensus on the direction (for or against) and strength (strong or conditional) of recommendations was reached through a majority vote.</p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>The present GL provides recommendations about the role of both pharmacological and surgical treatment for the clinical management of the adult patient population with BMI > 27 kg/m<sup>2</sup> and < 40 kg/m<sup>2</sup> associated with weight-related metabolic comorbidities, resistant to lifestyle changes. The panel: suggests the timely implementation of therapeutic interventions in addition to diet and physical activity; recommends the use of semaglutide 2.4 mg/week and suggests liraglutide 3 mg/day in patients with obesity or overweight also affected by diabetes or pre-diabetes; recommends semaglutide 2.4 mg/week in patients with obesity or overweight also affected by non-alcoholic fatty liver disease; recommends semaglutide 2.4 mg/week as first-line drug in patients with obesity or overweight that require a larger weight loss to reduce comorbidities; suggests the use of orlistat in patients with obesity or overweight also affected by hypertriglyceridemia that assume high-calorie and high-fat diet; suggests the use of naltrexone/bupropion combination in patients with obesity or overweight, with emotional eating; recommends surgical intervention (sleeve gastrectomy, Roux-en-Y gastric bypass, or metabolic gastric bypass/gastric bypass with single anastomosis/gastric mini bypass in patients with BMI ≥ 35 kg/m<sup>2</sup> who are suitable for metabolic surgery; and suggests gastric banding as a possible, though less effective, surgical alternative.</p><h3 data-test=\"abstract-sub-heading\">Conclusion</h3><p>The present GL is directed to all physicians addressing people with obesity—working in hospitals, territorial services or private practice—and to general practitioners and patients. The recommendations should also co","PeriodicalId":15651,"journal":{"name":"Journal of Endocrinological Investigation","volume":"62 1","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140613493","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}