{"title":"Divulging the overlooked condition: diabetic ketoacidosis as an imminent risk with sodium-glucose co-transporter-2 inhibitors treatment in type 2 diabetes mellitus.","authors":"Ubaidullah Yousafzai, Afnan Hashmi, Malaika Saqib","doi":"10.23736/S2724-6507.24.04235-0","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04235-0","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142470115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rossella Cannarella, Agnese Andaloro, Maria A Caruso, Nicolò Musso, Federica Barbagallo, Rosita A Condorelli, Sandro LA Vignera, Aldo E Calogero
{"title":"Follicle-stimulating hormone receptor gene polymorphisms influence Body Mass Index, metabolism, and bone mineral density in postmenopausal women.","authors":"Rossella Cannarella, Agnese Andaloro, Maria A Caruso, Nicolò Musso, Federica Barbagallo, Rosita A Condorelli, Sandro LA Vignera, Aldo E Calogero","doi":"10.23736/S2724-6507.24.04177-0","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04177-0","url":null,"abstract":"<p><strong>Background: </strong>Covering a significant part of a woman's life, the postmenopausal phase is often associated with the onset of obesity, metabolic dysfunction, osteoporosis, and their most disabling complications. In this context, scant evidence from both preclinical and clinical studies suggests that single nucleotide polymorphisms (SNPs) of the follicle-stimulating hormone receptor (FSHR) gene might be involved in the etiopathogenesis of these conditions, posing them as possible molecular predictors of their development. Therefore, this study aimed to evaluate the role of the FSHR gene SNPs c.2039A>G and c.-29 G>A on Body Mass Index (BMI), metabolic parameters, and bone metabolism in postmenopausal women.</p><p><strong>Methods: </strong>To achieve this goal, 49 postmenopausal Caucasian women aged from 45 to 80 years and with no factors known to influence metabolism and/or bone mineral density (BMD) were enrolled and assessed for their medical history, medical family history, anthropometric parameters and hormonal, metabolic and lipid profiles, and BMD. Then, they were genotyped for the FSHR gene SNPs c.2039A>G and c.-29G>A. Finally, the resulting data were classified according to woman's genotypes and subjected to statistical analysis.</p><p><strong>Results: </strong>No significant differences were found between the distributions of most endpoint parameters examined by genotype. However, none of the women with the c.2039A>G FSHR GG gene SNP were affected by obesity and had the highest lumbar BMD z-score within the cohort. Additionally, those with the FSHR c.-29G>A AA genotype had the lowest serum glucose levels.</p><p><strong>Conclusions: </strong>This preliminary study suggests that the FSHR c.2039A>G GG SNP, which is associated with reduced sensitivity of the FSHR, may have a protective role against obesity, offering further evidence for the possible association among FSH, FSHR polymorphisms, and insulin metabolism.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Letizia M Jannello, Carolin Siech, Andrea Baudo, Mario de Angelis, Francesco DI Bello, Jordan A Goyal, Zhe Tian, Stefano Luzzago, Francesco A Mistretta, Elisa de Lorenzis, Fred Saad, Felix K Chun, Alberto Briganti, Luca Carmignani, Nicola Longo, Ottavio de Cobelli, Gennaro Musi, Pierre I Karakiewicz
{"title":"Inpatient palliative care in metastatic adrenocortical carcinoma: a retrospective analysis using the National Inpatient Sample database.","authors":"Letizia M Jannello, Carolin Siech, Andrea Baudo, Mario de Angelis, Francesco DI Bello, Jordan A Goyal, Zhe Tian, Stefano Luzzago, Francesco A Mistretta, Elisa de Lorenzis, Fred Saad, Felix K Chun, Alberto Briganti, Luca Carmignani, Nicola Longo, Ottavio de Cobelli, Gennaro Musi, Pierre I Karakiewicz","doi":"10.23736/S2724-6507.24.04185-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04185-X","url":null,"abstract":"<p><strong>Background: </strong>The use of inpatient palliative care (IPC) in advanced cancer patients represents a well-established guideline recommendation. This study examines the utilization rates and patterns of IPC among patients with metastatic adrenocortical carcinoma (mACC).</p><p><strong>Methods: </strong>Relying on the Nationwide Inpatient Sample database (2007-2019), we tabulated IPC rates in mACC patients. Estimated annual percentage changes (EAPC) analyses as well as multivariable logistic regression models (MLRM) predicting IPC use were fitted.</p><p><strong>Results: </strong>Of 2040 mACC patients, 238 (12%) received IPC. Overall, the rate of IPC increased from 3.7% to 19.1% between 2007 and 2019 (EAPC +9.6%, P=0.001). During the same period, in-hospital mortality remained unchanged from 12.1 to 13.8% (EAPC 0.1%; P=0.97). Younger age at admission (<60 years; MLRM OR=0.70, P=0.013), solitary metastatic site (OR=0.63; P=0.015), and non-brain metastases (OR=0.62; P=0.033) were all associated with lower IPC use.</p><p><strong>Conclusions: </strong>In mACC patients, IPC use has increased from a marginal 3.7% to a moderate annual value of 19.1% in the most recent study year. These rates were not driven by a concomitant increase in in-hospital mortality (12.1% to 13.8%; P=0.9). and may be interpreted as an improvement in quality of care. Despite this encouraging increase, some patient characteristics herald lower IPC use. In consequence, younger patients, those with solitary metastatic sites, and non-brain metastases should be carefully considered for IPC to decrease or completely reduce the IPC access barrier maximally.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aurelio Minuti, Giuseppe Giuffrida, Marta Ragonese, Ylenia Alessi, Francesco Ferraù, Salvatore Cannavò
{"title":"Genetic and epigenetic modulation of AHR pathway in GH-secreting pituitary tumors and effects on acromegaly clinical phenotype.","authors":"Aurelio Minuti, Giuseppe Giuffrida, Marta Ragonese, Ylenia Alessi, Francesco Ferraù, Salvatore Cannavò","doi":"10.23736/S2724-6507.24.04183-6","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04183-6","url":null,"abstract":"<p><strong>Introduction: </strong>Several data demonstrated that chemical pollutants can be endocrine disruptors and they have an important role in tumorigenic processes. It has been shown that pollution exposure can affect pituitary cells' function and biology, indeed an increased prevalence of acromegaly has been reported in highly polluted areas.</p><p><strong>Evidence acquisition: </strong>One transcription factor that has a role in both carcinogenesis and in xenobiotics' detoxification is the aryl hydrocarbon receptor (AHR). Its deregulation could have a pivotal role in pituitary tumors, especially in GH-secreting pituitary tumors. Environmental chemicals affect the expression and function of ncRNAs (miRNA, lncRNA and circRNA) through different mechanisms.</p><p><strong>Evidence synthesis: </strong>However, to date, few data on the role of the environmental pollutants in the clinical expression and pathogenesis of GH-secreting pituitary tumors are available.</p><p><strong>Conclusions: </strong>This article presents a summary of the AHR signaling pathways that are triggered by various ligands and emphasizes the significant distinctions between the potential biological and toxicological effects of AHR gene activation. We also deepen the functions of ncRNAs and acromegaly and provide current data on their regulation by the AHR. Overall, more studies are still needed to fully understand the dynamic interplay between the AHR signaling pathway and ncRNAs in GH-secreting pituitary adenomas.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Repeatedly non-diagnostic thyroid nodules: the experience of two thyroid clinics.","authors":"Filippo Egalini, Mattia Rossi, Chiara Mele, Yanina Lizet Castillo, Francesca Maletta, Barbara Puligheddu, Ezio Ghigo, Ruth Rossetto Giaccherino, Loredana Pagano, Mauro Papotti","doi":"10.23736/S2724-6507.24.04152-6","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04152-6","url":null,"abstract":"<p><strong>Background: </strong>The clinical management of repeatedly non-diagnostic thyroid nodules (RNDNs) via fine needle aspiration cytology (FNAc) is a matter of debate because current recommendations and clinical practice are not based on high-quality evidence. Our purpose was to characterize RNDNs and evaluate their clinical management in our centers.</p><p><strong>Methods: </strong>This retrospective observational study included 319 consecutive patients who underwent ultrasound (US-)guided FNAc in two Italian academic hospitals between 2016 and 2020 and had previous cytology non-diagnostic result (TIR1). Clinical management and anamnestic data were retrieved, and the cytological specimens and US exams were double-blindly reviewed by two pathologists and endocrinologists.</p><p><strong>Results: </strong>The risk of RNDNs was significantly greater in hypoechogenic nodules (Odds Ratio [OR]=1.727, 95% confidence Interval [CI]: 1.090-2.735, P=0.02) and lower in nodules that had been recognized less than 10 years before (OR=0.349, 95% CI: 0.153-0.796, P=0.01). Clinicians chose to directly perform surgery on multinodular, intermediate-risk nodules (as per AACE/AME guidelines and EUTIRADS class 4), while larger (P<0.0001) and uninodular (P=0.03) lesions were further investigated with a third FNAc. Only 16 RNDNs were sent to surgery. Twelve nodules turned out to be benign goiters with a high rate of fibrosis, while only 3 were definitively malignant. However, retrospectively, all the malignant ones exhibited higher-risk ultrasound features and had an undetermined result (TIR3B) at the third cytological evaluation.</p><p><strong>Conclusions: </strong>In a real-life context, RNDNs exhibited a very low rate of malignancy and were mostly long-known goiters with regressive changes, as suggested by a hypoechoic pattern. Consequently, a clinical-US surveillance approach could be cautiously hypothesized, while greater attention could be given to larger and higher-US-risk (both as EUTIRADS 4-5 and AACE/AME intermediate- and high-risk classes) nodules.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2024-01-19DOI: 10.23736/S2724-6507.23.04058-7
Dario DE Alcubierre, Anna L Carretti, François Ducray, Emmanuel Jouanneau, Gérald Raverot, Mirela D Ilie
{"title":"Aggressive pituitary tumors and carcinomas: medical treatment beyond temozolomide.","authors":"Dario DE Alcubierre, Anna L Carretti, François Ducray, Emmanuel Jouanneau, Gérald Raverot, Mirela D Ilie","doi":"10.23736/S2724-6507.23.04058-7","DOIUrl":"10.23736/S2724-6507.23.04058-7","url":null,"abstract":"<p><p>Aggressive pituitary tumors are a subset of pituitary neoplasms, characterized by unusually fast growth rate, invasiveness and overall resistance to optimized standard treatment. When metastases are present, the term pituitary carcinoma is employed. After failure of standard treatments, current guidelines recommend first-line temozolomide monotherapy. However, a significant number of patients do not respond to temozolomide, or experience disease progression following its discontinuation; in these latter cases, re-challenge with temozolomide is generally advised, although the reported outcomes have been less satisfactory. Although no alternative therapies have been formally recommended after temozolomide failure, growing evidence regarding potential second- or third-line therapeutic strategies has emerged. In the present work, we reviewed the available evidence published up to April 2023 involving the most relevant therapies employed so far, namely immune checkpoint inhibitors, bevacizumab, peptide radionuclide receptor therapy, tyrosine kinase inhibitors and mTOR inhibitors. For each treatment, we report efficacy and safety outcomes, along with data regarding potential predictors of response. Overall, immune checkpoint inhibitors and bevacizumab are showing the most promise as therapeutic options after temozolomide failure. The former showed better responses in pituitary carcinomas. Peptide radionuclide receptor therapy has also showed some efficacy in these tumors, while tyrosine kinase inhibitors and mTOR inhibitors have exhibited so far limited or no efficacy. Further studies, as well as an individualized, patient-tailored approach, are clearly needed. In addition, we report an unpublished case of a silent corticotroph pituitary carcinoma that progressed under dual immunotherapy, and then showed stable disease under a combination of lomustine and bevacizumab.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"321-334"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139491621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2021-09-16DOI: 10.23736/S2724-6507.21.03386-8
Fatma N Korkmaz, Asena Gökçay Canpolat, Mustafa Şahin, Demet Çorapçioğlu
{"title":"Determination of the frequency of hyperprolactinemia-related etiologies and the etiology-specific mean prolactin levels.","authors":"Fatma N Korkmaz, Asena Gökçay Canpolat, Mustafa Şahin, Demet Çorapçioğlu","doi":"10.23736/S2724-6507.21.03386-8","DOIUrl":"10.23736/S2724-6507.21.03386-8","url":null,"abstract":"<p><strong>Background: </strong>Prolactin (PRL) is a peptide hormone secreted by the anterior pituitary that provides lactation during the postpartum period. The causes of hyperprolactinemia are pituitary tumors, medications, primary hypothyroidism, polycystic ovary syndrome (PCOS), renal failure, idiopathic, and other physiological causes such as pregnancy and lactation. In this study, we aimed to investigate the prevalence of hyperprolactinemia etiologies and the mean/median prolactin levels in different etiologies.</p><p><strong>Methods: </strong>The patients admitted to our outpatient clinic between January 2009-December 2019 were retrospectively screened from our hospital database with ICD-10 codes. Four hundred patients were included in the study; 69.5% of the patients were women. Their mean age was 43.67±13.42 years, the duration of illness was 7.8±5.6 years. The most frequent causes of hyperprolactinemia were found as follows: 52.5% (N.=210) prolactinoma, 7% (N.=28) gonadotropinoma, 6.5% (N.=26) drug-related, 6.5% (N.=25) PCOS, 5.8% (N.=23) idiopathic, 5% (N.=20) acromegaly, 4.8% (N.=19) nonfunctioning adenoma 2.3% (N.=9) craniopharyngioma. Patients with gonodotropinoma were significantly older, and the patients with PCOS were significantly younger than the patients with hyperprolactinemia due to the other etiologies. Patients with prolactinoma had significantly higher prolactin levels and longer duration of the illness when compared to other etiologies of hyperprolactinemia (168.00* ng/mL [14-23,500] [168]); 8* years (0-39) (5.00) years respectively, *median values, (min-max levels) and (interquartile range), respectively.</p><p><strong>Results: </strong>There was no significant difference between prolactin levels of other etiologic groups except prolactinoma. Surprisingly, we found PCOS patients with prolactin levels greater than 100 ng/mL and acromegaly or drug-induced hyperprolactinemia with prolactin levels greater than 200 ng/mL. In our study, unlike the literature, macroprolactinemia can be seen alone or together with other pathologies. Except for macroprolactinoma, it is not possible to diagnose according to prolactin level. Similar to the literature, prolactinoma was the most common cause of hyperprolactinemia. The causes of hyperprolactinemia, in order of decreasing frequency, were determined to be gonodotropinoma, drug-related, PCOS, idiopathic, and acromegaly. The range of prolactin detected in PCOS is given as new information. It was found that the pediatric group and the adult group had a similar etiology and PRL level.</p><p><strong>Conclusions: </strong>A large spectrum of physiologic/pathologic conditions increases the prolactin levels, and prolactin levels may vary from person to person. So, the serum prolactin level alone does not guide a clinical diagnosis or make a differential diagnosis.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"243-252"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39421615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2022-02-15DOI: 10.23736/S2724-6507.22.03565-5
And Demir, Matti Hero, Henrik Alfthan, Amro Passioni, Juha S Tapanainen, Ulf-Håkan Stenman
{"title":"Intact luteinizing hormone, LHβ, and LHβ core fragment in urine of menstruating women.","authors":"And Demir, Matti Hero, Henrik Alfthan, Amro Passioni, Juha S Tapanainen, Ulf-Håkan Stenman","doi":"10.23736/S2724-6507.22.03565-5","DOIUrl":"10.23736/S2724-6507.22.03565-5","url":null,"abstract":"<p><strong>Background: </strong>We examined different molecular forms of luteinizing hormone (LH) in urine samples taken during periovulatory days with the aim of revealing different forms of LH immunoreactivity (LH-ir) in normally menstruating women.</p><p><strong>Methods: </strong>Serum and first-morning-voided urine serum samples were obtained from six healthy, 22 to 38 years old, regularly menstruating women during their periovulatory days based on their previous menstrual cycles. The day of the LH surge was determined on the basis of serum LH concentrations and confirmed by an at least two-fold increase in urinary concentrations of intact LH on consecutive days. Different molecular forms of LH-ir were identified by gel filtration of first-morning-voided urine samples obtained from regularly menstruating women on periovulatory days.</p><p><strong>Results: </strong>Different forms of LH immunoreactivity (LH-ir) were distinguished as intact LH, its free beta-subunit (LHβ), and the core fragment of LHβ (LHβcf) according to their molecular sizes. The latter two are also called non-intact LH. Intact LH was the dominating form on the day before and on the day of LH surge while LHβcf was the major form of LH immunoreactivity after the LH surge for the following 5-7 days. LHβ was detected on the day of the LH surge as well as on the following day.</p><p><strong>Conclusions: </strong>These results indicate that LH is degraded in the kidneys and excreted as LHβ, and mainly as LHβcf for 7 days following the LH peak.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"262-268"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39925709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2024-07-31DOI: 10.23736/S2724-6507.24.04219-2
Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga
{"title":"Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.","authors":"Rodopi Emfietzoglou, Giovanna Muscogiuri, Dimitrios Tsilingiris, Dimitrios Kounatidis, Theodora Stratigou, Natalia Vallianou, Irene Karampela, Efthimia K Basdra, Maria Dalamaga","doi":"10.23736/S2724-6507.24.04219-2","DOIUrl":"10.23736/S2724-6507.24.04219-2","url":null,"abstract":"<p><p>Macroglossia is an uncommon condition characterized by chronic, painless and abnormal enlargement of the tongue. A multitude of medical conditions can cause macroglossia. Major endocrine and metabolic disorders associated with macroglossia include genetic, congenital and acquired conditions, such as mucopolysaccharidoses; acquired and congenital hypothyroidism and myxedema; transient neonatal diabetes mellitus; acromegaly and amyloidosis. Macroglossia is often associated (~57-60%) with all types of mucopolysaccharidoses, particularly type I (Hurler syndrome) and type II (Hunter syndrome), being a prominent feature of the disorder. It may also occur in patients with acquired and congenital hypothyroidism and myxedema, being a common sign of congenital hypothyroidism with an approximate prevalence of 12-25% at the time of diagnosis. Macroglossia is a predominant oral finding in subjects with transient neonatal diabetes mellitus (~44%), acromegaly (54-69%) and amyloidosis (10-25%), particularly AL amyloidosis (20-40%) whereas is considered a hallmark of the disease. Secondary to macroglossia various disturbances may occur, such as difficulty in speech or eating, orthodontic anomalies or even more serious conditions including upper airway obstruction or obstructive sleep apnea. Until now, no comprehensive review has been conducted focusing on macroglossia in endocrine and metabolic disorders. The objective of this review is to summarize literature on the etiology and epidemiology of macroglossia in major endocrine and metabolic disorders. It highlights key aspects such as pathophysiology, clinical presentation, diagnostic evaluation, management and prognosis of macroglossia in the context of endocrine and metabolic disorders.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"335-350"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Minerva endocrinologyPub Date : 2024-09-01Epub Date: 2024-01-23DOI: 10.23736/S2724-6507.23.04063-0
Montserrat Marques-Pamies, Joan Gil, Elena Valassi, Laura Pons, Cristina Carrato, Mireia Jordà, Manel Puig-Domingo
{"title":"New molecular tools for precision medicine in pituitary neuroendocrine tumors.","authors":"Montserrat Marques-Pamies, Joan Gil, Elena Valassi, Laura Pons, Cristina Carrato, Mireia Jordà, Manel Puig-Domingo","doi":"10.23736/S2724-6507.23.04063-0","DOIUrl":"10.23736/S2724-6507.23.04063-0","url":null,"abstract":"<p><p>Precision, personalized, or individualized medicine in pituitary neuroendocrine tumors (PitNETs) has become a major topic in the last few years. It is based on the use of biomarkers that predictively segregate patients and give answers to clinically relevant questions that help us in the individualization of their management. It allows us to make early diagnosis, predict response to medical treatments, predict surgical outcomes and investigate new targets for therapeutic molecules. So far, substantial progress has been made in this field, although there are still not enough precise tools that can be implemented in clinical practice. One of the main reasons is the excess overlap among clustered patients, with an error probability that is not currently acceptable for clinical practice. This overlap is due to the high heterogeneity of PitNETs, which is too complex to be overcome by the classical biomarker investigation approach. A systems biology approach based on artificial intelligence techniques seems to be able to give answers to each patient individually by building mathematical models through the interaction of multiple factors, including those of omics sciences. Integrated studies of different molecular omics techniques, as well as radiomics and clinical data are necessary to understand the whole system and to finally achieve the key to obtain precise biomarkers and implement personalized medicine. In this review we have focused on describing the current advances in the area of PitNETs based on the omics sciences, that are clearly going to be the new tool for precision medicine.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"300-320"},"PeriodicalIF":2.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139520613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}