Endocrinologia Diabetes Y Nutricion最新文献

{"title":"Study of the C228T mutation of the TERT promoter in thyroid aspirative punctures of IV category of the Bethesda classification","authors":"Berta Bella Burgos ,&nbsp;Ruben Carrera Salas ,&nbsp;Ricard Onieva Carbajo ,&nbsp;Catalina Padilla Navas ,&nbsp;María del Carmen Ramos Guijo ,&nbsp;Laura Escudero Larrá ,&nbsp;Rosa María Rodríguez Millán ,&nbsp;José Antonio Vázquez Luque ,&nbsp;Silvia Hurtado Mas ,&nbsp;Adrià Asensi Puig ,&nbsp;Carmen María Blázquez Mañá ,&nbsp;Santi Barcons Vilaplana ,&nbsp;Ismail Capel Flores ,&nbsp;Xavier Guirao Garriga ,&nbsp;Víctor Pérez-Riverola ,&nbsp;Mario Prenafeta Moreno ,&nbsp;Neus Combalia Soriano ,&nbsp;Ruth Orellana Fernández ,&nbsp;Joan Carles Ferreres Piñas ,&nbsp;María Rosa Bella-Cueto","doi":"10.1016/j.endien.2025.501564","DOIUrl":"10.1016/j.endien.2025.501564","url":null,"abstract":"<div><h3>Introduction</h3><div>Since the C228T mutation in the<em>TERT</em> promoter (<em>TERTp</em>) has been identified almost exclusively in thyroid malignancies, our objective was to study the usefulness of its determination in thyroid fine needle aspirations (FNA) of the IV category of the Bethesda classification (B.IV).</div></div><div><h3>Methodology</h3><div>From the FNAs performed between 1993 and 2015, we selected those with a diagnosis of B.IV or equivalent and subsequent thyroidectomy. A retrospective study of the C228T mutation in <em>TERTp</em> was performed by pyrosequencing in neoplastic cases (adenomas, low risk neoplasms and carcinomas), both from the surgical specimen and from the FNA material if feasible.</div></div><div><h3>Results</h3><div>79 cases with a diagnosis of B.IV were identified, and mutational study was performed in the 61 cases corresponding to neoplasms, identifying 10 cases with the mutation (12.6% of the series), with a higher presence in Poorly Differentiated Carcinomas (PDC) or with a minor PDC component (45%), in cases with death attributable to thyroid carcinoma (50%) and in patients alive but with persistence of thyroid carcinoma (50%). The mutation was confirmed in 7 of 8 cases with the mutation and satisfactory cytological material. In 4 cases, preoperative knowledge of the mutation could have avoided a two-stage thyroidectomy.</div></div><div><h3>Conclusion</h3><div>The study of the C228T mutation of<em>TERTp</em> can be useful to detect malignancy and establish the best surgical approach in patients with thyroid FNA with a diagnosis of B.IV.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 5","pages":"Article 501564"},"PeriodicalIF":1.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of glucagon-like peptide-1 receptor agonists on the risk of major adverse limb events in patients with type 2 diabetes mellitus: A systematic review and meta-analysis of randomized clinical trials","authors":"Fernando Garagoli ,&nbsp;Walter Masson ,&nbsp;Leandro Barbagelata ,&nbsp;Martín Lobo","doi":"10.1016/j.endien.2025.501562","DOIUrl":"10.1016/j.endien.2025.501562","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the effect of glucagon-like peptide-1 receptor agonists (GLP-1RAs) on the risk of major adverse limb events (MALE).</div></div><div><h3>Methods</h3><div>We conducted a systematic review and meta-analysis of randomized clinical trials assessing the effects of GLP-1RAs therapy on peripheral arterial disease (PAD)-related outcomes in patients with type 2 diabetes mellitus (T2DM). This meta-analysis was performed according to PRISMA guidelines. The random-effects model was performed.</div></div><div><h3>Results</h3><div>A total of 6 randomized clinical trials were considered eligible for this systematic review. On the other hand, 4 clinical trials were included for the meta-analysis. A total of 15,427 subjects were allocated to the GLP-1RAs group, and 15,476 to the placebo group. Overall, this meta-analysis showed that the use of GLP-1RAs is associated with a lower risk of PAD-related events (OR, 0.78; 95%CI, 0.62–0.98, <em>I</em>² <!-->=<!--> <!-->39%) vs the placebo group. The analytical evaluation did not suggest publication bias, and the sensitivity analysis demonstrated that the result was robust.</div></div><div><h3>Conclusion</h3><div>This meta-analysis demonstrated that the use of GLP-1RAs is associated with fewer PAD-related clinical events. Of note, despite the clinical significance of PAD, most analyzed studies did not specifically report on these events. Future studies should include PAD as a key endpoint. PROSPERO Registration: CRD42024565567.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 5","pages":"Article 501562"},"PeriodicalIF":1.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144106055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multifocality of papillary thyroid carcinoma with low risk of recurrence: Prevalence, predictive markers, prognostic significance and initial surgical treatment","authors":"Luis García Pascual ,&nbsp;Carlos Puig-Jové ,&nbsp;Andreu Simó-Servat ,&nbsp;Lluís García-González","doi":"10.1016/j.endien.2025.501545","DOIUrl":"10.1016/j.endien.2025.501545","url":null,"abstract":"<div><h3>Background and objective</h3><div>The impact of multifocality on the prognosis of patients with papillary thyroid cancer is relevant when considering the choice of initial surgical treatment by hemithyroidectomy or total thyroidectomy. The aim of the study is to determine the prevalence of multifocality in our setting, its predictive markers and the rates of persistence, recurrence and mortality associated with papillary thyroid cancer with a low risk of recurrence in order to infer the most appropriate initial surgical treatment.</div></div><div><h3>Patients and method</h3><div>Retrospective observational cross-sectional study of 85 total thyroidectomies.</div></div><div><h3>Results</h3><div>Prevalences: unifocal carcinoma: 68.2%; multifocal: 31.8%. Predictive markers of multifocality: multinodular ultrasound pattern (OR:17.069, 95% CI:2.989−97.454) and non-incidental finding (OR:7.569, 95% CI:2.363−24.242). In 66.6% of multifocal cases there was bilateral involvement, all of them had a bilateral multinodular ultrasound pattern. Multifocal cases received postoperative radioiodine more frequently (<em>p</em> &lt; 0.001). During the follow-up of 95.5 ± 32.2 months there was one case of persistence and one of recurrence, both in the multifocal group (p:ns), at 12 and 71 months of follow-up. There was no mortality.</div></div><div><h3>Conclusions</h3><div>This is the first study in our country to estimate the prevalence of multifocality in papillary carcinoma with a low risk of recurrence and to show an excellent prognosis, with no differences compared to unifocal cases, considering that all cases have been treated with total thyroidectomy, but multifocal cases with radioiodine more frequently. Hemithyroidectomy could offer a similar prognosis to total thyroidectomy in cases with an ultrasound pattern of a single or unilateral multinodular nodule, but not in cases of bilateral multinodular thyroid.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 5","pages":"Article 501545"},"PeriodicalIF":1.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteogenesis imperfecta type V: About a clinical case","authors":"María Fernanda Reinoso Gomezcoello ,&nbsp;Isabel Pavón de Paz ,&nbsp;Cristina Navea Aguilera ,&nbsp;Belén Gil Fournier ,&nbsp;Ana María Bueno Sanchez ,&nbsp;Guadalupe Guijarro de Armas ,&nbsp;María Merino Viveros ,&nbsp;Jose Antonio Rosado Sierra ,&nbsp;Paloma Iglesias Bolaños ,&nbsp;María Durán Martínez","doi":"10.1016/j.endien.2025.501544","DOIUrl":"10.1016/j.endien.2025.501544","url":null,"abstract":"<div><div>Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder. It is characterized by short stature, fragility and decreased bone mass, which leads to multiple and recurrent fractures after low-energy trauma, which generates susceptibility to long bone deformity and vertebral compression. There are several types of OI, with types I to IV, in which the <em>COL1A1</em> and <em>COL1A2</em> genes are affected, being the most frequent. In recent years, the discovery of new forms of OI has led to research into the pathways critical aspects of bone metabolism, with new genes involved being identified. The mutation in <em>IFITM5</em> has been identified as the cause of OI type V, of autosomal dominant inheritance. OI type V has distinctive clinical features including the development of hypertrophic callus after fracture, early calcification of the interosseous membrane in the forearm, and the presence of hyperdense metaphyseal bands.</div><div>The case of a patient with a novo mutation in <em>IFITM5</em> is presented.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 5","pages":"Article 501544"},"PeriodicalIF":1.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transgender women and competitive sports: Considerations from Endocrinology","authors":"Laura Cuadrado Clemente ,&nbsp;María Miguélez González ,&nbsp;Patricia Cabrera García ,&nbsp;Mercedes Noval Font ,&nbsp;Élida Alfaro Gandarillas ,&nbsp;Marcelino Gómez Balaguer ,&nbsp;Nieves Palacios Gil de Antuñano","doi":"10.1016/j.endien.2025.101539","DOIUrl":"10.1016/j.endien.2025.101539","url":null,"abstract":"<div><h3>Introduction</h3><div>The participation of transgender women (TW) in high-level competitive sports increases every year, as does the interest of sports organizations in finding solutions that allow their inclusion without compromising the principle of equity governing high-level sports. However, the binary categorization of sports, influenced by the impact of sex hormone on physical performance, creates challenges for the inclusion of TW in the female category. This study aimed to understand the impact of gender-affirming hormone therapy (GAHT) on various athletic performance variables and to compare results with those obtained in cisgender populations.</div></div><div><h3>Methods</h3><div>Review of cross-sectional and longitudinal studies that included TW (preferably athletes) undergoing GAHT.</div></div><div><h3>Results</h3><div>Significant decreases in hematocrit, total serum testosterone, lean body mass, strength, and muscle area were observed after 12 mo of GAHT, with increases in fat mass. Grip strength was higher in TW compared to cisgender females (CW) in the long term. TW showed better performance in sports involving the upper body.</div></div><div><h3>Conclusions</h3><div>At least 2 years of postpubertal GAHT are necessary to achieve a significant reduction in the effects of male hormones on various physiological parameters. The scientific evidence regarding the impact of GAHT on physical performance is insufficient. Long-term studies are needed, incorporating new biomarkers and morphofunctional parameters, to allow for comparisons of athletic performance across different disciplines between TW and CW.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 101539"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trans and cis women in sport: Citius, altius, fortius, sed aequitas","authors":"Óscar Moreno-Perez ,&nbsp;Inés Modrego-Pardo","doi":"10.1016/j.endien.2025.501547","DOIUrl":"10.1016/j.endien.2025.501547","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 501547"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143722080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and management of type 2 diabetes in primary care in Spain. SED2 Study","authors":"Violeta Antonio-Arques ,&nbsp;Berta Fernandez Camins ,&nbsp;Bogdan Vlacho ,&nbsp;Joan Barrot ,&nbsp;Jorge Navarro Pérez ,&nbsp;Edelmiro Menéndez Torre ,&nbsp;Didac Mauricio ,&nbsp;Josep Franch-Nadal","doi":"10.1016/j.endien.2025.501543","DOIUrl":"10.1016/j.endien.2025.501543","url":null,"abstract":"<div><h3>Introduction</h3><div>Type 2 diabetes mellitus (DM2) is a prevalent chronic disease with major complications. Primary care (PC) plays a crucial role in the management of this disease.</div></div><div><h3>Objectives</h3><div>To evaluate the organization and resources available in PC for the care of patients with DM2 in Spain.</div></div><div><h3>Material and methods</h3><div>Descriptive, cross-sectional, observational study in 65 health centers (HC) selected by opportunistic sampling. Data were collected through a structured survey.</div></div><div><h3>Results</h3><div>Half of the HCs have a diabetes referent, two thirds have specific protocols and almost 90% involve nurses in diabetes education. Access to non-mydriatic retinography is limited (38.5%) and its interpretation varies. Diabetic foot examination is mainly performed by nurses (47.7%) and there is the possibility of referral to vascular surgery or specialized units in most cases. The most frequent analytical tests are the HbA1c every 6 mo (67.7%). 63.1% of the HCs can perform telematic consultations to hospital specialists and most of them have access to patients’ medical records at the hospital. Significant variations are observed in some aspects between autonomous communities.</div></div><div><h3>Conclusions</h3><div>Care for patients with DM2 in PC in Spain is uneven and presents opportunities for improvement. Comprehensive diabetes care in PC needs to be strengthened, including the training of professionals, the implementation of protocols and the provision of adequate resources. Measures are needed to reduce variations in care between autonomous communities.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 501543"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alterations in MORC2 gene and DIGFAN syndrome: A rare cause of short stature","authors":"Enrique Palomo Atance ,&nbsp;Prado Sánchez Ruiz ,&nbsp;Elena Reyzábal Ereño ,&nbsp;Paola Sánchez Tudela ,&nbsp;Laura Acero García de la Santa","doi":"10.1016/j.endien.2025.101537","DOIUrl":"10.1016/j.endien.2025.101537","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 101537"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined adalimumab and etonogestrel/ethinylestradiol therapy associated with hypertriglyceridemia-induced pancreatitis in a young woman with hidradenitis suppurativa","authors":"Darko Siuka ,&nbsp;Matej Rakusa","doi":"10.1016/j.endien.2025.101536","DOIUrl":"10.1016/j.endien.2025.101536","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 101536"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143806960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity","authors":"Meriem El Fessikh ,&nbsp;Hanaa Skhoun ,&nbsp;Zohra Ouzzif ,&nbsp;Jamila El Baghdadi","doi":"10.1016/j.endien.2025.501559","DOIUrl":"10.1016/j.endien.2025.501559","url":null,"abstract":"<div><div>The <em>MC4R</em> gene plays a critical role in regulating food intake, making it an important model for studying genetic mutations that impact the protein function. This study aimed to identify the most deleterious functional and structural variants in individuals with obesity by analyzing SNPs from the NCBI dbSNP database and selecting pathogenic variants from ClinVar. Bioinformatics tools were employed to predict deleterious SNPs, and conservation analysis was performed using ConSurf. Stability predictions were made with MUpro, I-Mutant2.0, and iStable. The 3D structure of the MC4R protein was examined using YASARA view. A total of 20 out of 348 missense mutations were associated with obesity. Fifteen of these variants were predicted to be the most deleterious. Eight variants located in conserved regions were found to significantly reduce protein stability and cause structural changes (S58C, E61K, N62S, I69R, D90N, R165Q, P299H, and I316S), indicating their potential as obesity biomarkers and therapeutic targets.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 4","pages":"Article 501559"},"PeriodicalIF":1.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143806961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}