Mariana Ornelas, Eduarda Resende, Pedro Gouveia, Maritza Sá, Margarida Ferreira
{"title":"TMEM-127 gene mutation: A rare genetic entity associated with metastatic bilateral pheochromocytoma","authors":"Mariana Ornelas, Eduarda Resende, Pedro Gouveia, Maritza Sá, Margarida Ferreira","doi":"10.1016/j.endinu.2024.09.004","DOIUrl":"10.1016/j.endinu.2024.09.004","url":null,"abstract":"<div><div>A 30-year pregnant woman was unexpectedly diagnosed with pheochromocytoma during obstetric follow-up. The patient – initially treated with optimal medical therapy – underwent elective C-section followed by right adrenalectomy. In the postoperative period, complete tumor resection was confirmed by negative biochemical tests. Ten years later, the patient developed new symptoms suggestive of catecholaminergic hypersecretion and biochemical tests documented increased urinary fractionated metanephrines. In the postoperative biochemical testing and imaging, persistent disease was documented. During follow-up, repeated imaging modalities evidenced the presence of hepatic and peritoneal metastasis. Genetic testing documented a germline pathogenic variant (c.410-2A>C) in the TMEM-127 gene, a rare pheochromocytoma etiology that typically presents as unilateral adrenal lesion with rare metastatic behavior. The authors underline less frequent findings described in the literature – bilaterality and metastatic behavior – and emphasize the absence of aggressive prognostic markers at initial clinical presentation.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 2","pages":"Article 101528"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436522","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":"Controversias de los efectos del tratamiento con agonistas del receptor de GLP-1 sobre el vaciamiento gástrico","authors":"Miguel A. Rubio-Herrera , Irene Bretón Lesmes","doi":"10.1016/j.endinu.2024.12.001","DOIUrl":"10.1016/j.endinu.2024.12.001","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 2","pages":"Article 101538"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436518","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}
Pablo Expósito-Campos , Marcelino Gómez Balaguer , Felipe Hurtado Murillo , Alberto Pena Dubra , Luis Francisco de Miguel Rodríguez , Pablo Fernández Collazo , Elisa Tadeo Morant , Inés Modrego Pardo , Carlos Morillas Ariño
{"title":"Psychological assessment and counseling remain important features of quality care: A descriptive study of individuals who did not start gender-affirming medical treatment in a gender identity unit in Spain","authors":"Pablo Expósito-Campos , Marcelino Gómez Balaguer , Felipe Hurtado Murillo , Alberto Pena Dubra , Luis Francisco de Miguel Rodríguez , Pablo Fernández Collazo , Elisa Tadeo Morant , Inés Modrego Pardo , Carlos Morillas Ariño","doi":"10.1016/j.endinu.2024.09.007","DOIUrl":"10.1016/j.endinu.2024.09.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Not all individuals referred to gender identity units receive gender-affirming medical treatment (GAMT). However, there is a paucity of literature examining the reasons for this. This study aimed to investigate the reasons for not initiating GAMT in individuals who initially reported gender identity concerns and requested body changes in a gender identity unit in Spain, all of whom underwent psychological assessment and counseling.</div></div><div><h3>Material and methods</h3><div>We retrospectively reviewed a total of 457 health histories and collected basic socio-demographic data and information on reasons for not initiating GAMT. This information was grouped into categories based on thematic similarity following consensus among the authors.</div></div><div><h3>Results</h3><div>We identified a total of 62 patients who did not start GAMT. A total of 26 were deemed ineligible for issues related to mental health, identity development, and inadequate understanding of the GAMT protocol. The remaining 36 patients were counseled and followed up for a mean of 8.4 months. We categorized the reasons for not starting GAMT into 4 groups: (A) failure to meet criteria for gender incongruence/dysphoria (four patients); (B) premature termination of the assessment/counseling process (11 patients); (C) gender identity-related doubts and/or desistance of the transgender identity (12 patients); and (D) discontinued desire for GAMT (9 patients).</div></div><div><h3>Conclusions</h3><div>GAMT is not the endpoint for all individuals seeking care, and reasons for not starting GAMT are heterogeneous and sometimes complex. Psychological assessment and counseling remain important features of quality gender-affirming care, and current debates about access to GAMT should take these experiences into account to better inform its future provision.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 2","pages":"Article 101533"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"PPGAI index as a photoplethysmographic biomarker for type 2 diabetes mellitus","authors":"Alessandro Gentilin , Antonio Cevese","doi":"10.1016/j.endinu.2024.07.009","DOIUrl":"10.1016/j.endinu.2024.07.009","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 2","pages":"Article 101521"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436524","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}
Luis Agustín Ramírez Stieben , María Lorena Brance , Marina Verónica Belardinelli , Diamela Bolzán , Estefanía Pustilnik , Rodolfo Néstor Feldman , Lucas Ricardo Brun
{"title":"PTH levels and establishment of reference intervals: Impact of vitamin D and renal function","authors":"Luis Agustín Ramírez Stieben , María Lorena Brance , Marina Verónica Belardinelli , Diamela Bolzán , Estefanía Pustilnik , Rodolfo Néstor Feldman , Lucas Ricardo Brun","doi":"10.1016/j.endinu.2024.09.003","DOIUrl":"10.1016/j.endinu.2024.09.003","url":null,"abstract":"<div><h3>Introduction</h3><div>Parathyroid hormone (PTH) and vitamin D are essential components in mineral metabolism. Our aims were to estimate the thresholds of 25-hydroxyvitamin D [25(OH)D] and estimated glomerular filtration rate (eGFR) that inhibit PTH, establish PTH reference intervals (RIs), and the stratify need based on age and gender.</div></div><div><h3>Materials and methods</h3><div>We conducted a cross-sectional study on participants older than 18 years. Segmented regressions (SR) were performed to determine the thresholds of 25(OH)D and eGFR in relation to PTH levels. Multivariate regression was used to evaluate the associations between PTH and 25(OH)D, gender, age, eGFR, and season. To establish the PTH RIs, extreme percentiles were calculated.</div></div><div><h3>Results</h3><div>A total of 2794 subjects were analyzed (women, 77.56%). Multivariate regression indicated that age, gender, 25(OH)D, and eGFR explained PTH variation. SR demonstrated that PTH stabilized when eGFR<!--> <!-->><!--> <!-->46.64<!--> <!-->mL/min/1.73<!--> <!-->m<sup>2</sup>, and PTH increased when 25(OH)D was <15.8<!--> <!-->ng/mL. Stratification by gender and age revealed different RIs, with women and over 70 years showing higher limits.</div></div><div><h3>Conclusion</h3><div>Our study suggests a stabilization point in PTH with an eGFR<!--> <!-->><!--> <!-->46.64<!--> <!-->mL/min/1.73<!--> <!-->m<sup>2</sup>, indicating a significant interaction between renal function and PTH regulation. Additionally, the significant increase in PTH in individuals with 25(OH)D<!--> <!--><<!--> <!-->15.8<!--> <!-->ng/mL emphasizes the importance of vitamin D in regulation. An association between age and PTH was also evident, particularly a substantial increase after the age of 70. Finally, we established the need to define partitioned RIs for PTH based on age and gender.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 2","pages":"Article 101527"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436520","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}
Pilar Santa Cruz-Álvarez , Carmen Amelia Ruiz-Trillo , Ana Pérez-Morales , Ana Cortés-Lerena , Carmen Gamero-Dorado , Miguel Garrido-Bueno
{"title":"Educación terapéutica enfermera sobre el control glucémico y bienestar emocional en adolescentes con diabetes mellitus de tipo 1 durante la transición hospitalaria","authors":"Pilar Santa Cruz-Álvarez , Carmen Amelia Ruiz-Trillo , Ana Pérez-Morales , Ana Cortés-Lerena , Carmen Gamero-Dorado , Miguel Garrido-Bueno","doi":"10.1016/j.endinu.2024.07.008","DOIUrl":"10.1016/j.endinu.2024.07.008","url":null,"abstract":"<div><h3>Introduction</h3><div>The transition of adolescents from pediatric to adult hospitals is a planned and guided process that involves changes in the focus, style, and location of care. During this period, complications are common in those with type 1 diabetes mellitus (T1DM). The objective of this study was to understand the influence of a nurse-led structured therapeutic education program on maintaining glycemic control and emotional wellbeing in these adolescents.</div></div><div><h3>Materials and methods</h3><div>Monocentric quasi-experimental clinical trial of a single group. SPSS and R-Commander were used for statistical analysis, including Student's t-test, Wilcoxon test, Cohen's d, Rosenthal's r, and multivariate linear regression analysis.</div></div><div><h3>Results</h3><div>A total of 15 adolescents with a 5-to-17-year history of the disease participated in the study. They had a BMI of 18-26.3<!--> <!-->kg/m<sup>2</sup> and were on basal-bolus therapy. No significant differences were found in glycemic control and emotional wellbeing between baseline values and at 3 months. A significant difference in self-care was observed at 12 months. Family function and eating disorders were positively associated at baseline, 3 months, and 12 months.</div></div><div><h3>Conclusions</h3><div>The structured therapeutic education program for adolescents with T1DM transitioning from pediatric to adult care maintains glycemic control and emotional wellbeing.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 1","pages":"Pages 14-25"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143166493","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}
Giovana Longo-Silva , Renan Serenini , Anny Pedrosa , Márcia Lima , Larissa Soares , Júlia Melo , Risia Menezes
{"title":"Chrononutrition patterns and their association with body weight: Differences across multiple chronotypes","authors":"Giovana Longo-Silva , Renan Serenini , Anny Pedrosa , Márcia Lima , Larissa Soares , Júlia Melo , Risia Menezes","doi":"10.1016/j.endinu.2024.07.006","DOIUrl":"10.1016/j.endinu.2024.07.006","url":null,"abstract":"<div><h3>Introduction</h3><div>In recent years, the focus of research on obesity and its management has expanded beyond traditional dietary factors to include the timing of food intake – in relation to the body's circadian rhythms – known as chrononutrition. However, chrononutrition patterns remain largely unexplored in low-medium income countries. Our study aimed to investigate the association between chrononutrition patterns and BMI.</div></div><div><h3>Material and methods</h3><div>Utilizing data from the virtual Survey SONAR-Brazil (<em>n</em> <!-->=<!--> <!-->2137,18–65 y), we defined the following chrononutrition patterns: 1. The clock time of the first, mid, and last eating events; 2. Morning and evening latencies (from wake-up time until the first eating event, and from the last eating event until bedtime); and 3. Eating window. Linear regression analyses assessed associations between chrononutrition variables and BMI. Quantile regression and restricted cubic splines were used to explore distributional correlations and association shapes.</div></div><div><h3>Results</h3><div>Among all participants, BMI increased with each additional hour of the first eating event (<em>β</em> <!-->=<!--> <!-->0.17; 95% CI, 0.05,0.29; <em>P</em> <!-->=<!--> <!-->0.005), morning latency (<em>β</em> <!-->=<!--> <!-->0.27; 95% CI, 0.12,0.42; <em>P</em> <!--><<!--> <!-->0.001), and eating midpoint (<em>β</em> <!-->=<!--> <!-->0.21; 95% CI, 0.05,0.38; <em>P</em> <!-->=<!--> <!-->0.01) and the effect was even stronger with higher BMI percentiles. There was no effect of eating times among intermediate and late chronotypes. However, among early types, positive associations were seen between the BMI and the timing of the first eating event, morning latency, and eating midpoint, as well as a negative association with evening eating.</div></div><div><h3>Conclusions</h3><div>Our findings suggest that delaying the first eating event, the eating midpoint, and extending morning latency are associated with higher BMI, particularly in early chronotypes. These results highlight the importance of aligning eating patterns with chronotypes and support personalized dietary recommendations.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 1","pages":"Pages 4-13"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143166495","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}
Sara Safari , Sara Shojaei-Zarghani , Roghayeh Molani-Gol , Maryam Rafraf , Mahsa Malekian
{"title":"Effects of vitamin D supplementation on TSH and thyroid hormones: A systematic review of randomized controlled trials","authors":"Sara Safari , Sara Shojaei-Zarghani , Roghayeh Molani-Gol , Maryam Rafraf , Mahsa Malekian","doi":"10.1016/j.endinu.2024.07.007","DOIUrl":"10.1016/j.endinu.2024.07.007","url":null,"abstract":"<div><h3>Objective</h3><div>Approximately 200 million people have been diagnosed with thyroid disease worldwide. Associations between thyroid disorders and nutritional factors have been established in former studies.</div></div><div><h3>Methods</h3><div>The Web of Science, PubMed, and Scopus databases and Google Scholar were searched without date restriction until June 2023 by using relevant keywords. All original articles written in English that studied the effects of vitamin D supplementation on TSH and thyroid hormones were eligible for the present review.</div></div><div><h3>Results</h3><div>The present review included a total of 16 randomized controlled trials (RCTs) with 1127 participants (intervention group, 630; control group, 497). Based on the findings made, vitamin D supplementation had no significant effects on serum TSH levels in 9 cases (56.2%) reported in the trials. However, TSH levels were elevated in 4 studies (26.6%) and low in 3 (18.7%) cases after vitamin D administration. Four cases reported in 6 RCTs and 4 cases reported in 5 trials indicated no significant effects on thyroxine (T<sub>4</sub>) and triiodothyronine (T<sub>3</sub>) levels after vitamin D supplementation, respectively. Moreover, 8 cases of 11 included RCTs reported that vitamin D intake had no significant effects on fT4, and 5 cases of 7 RCTs demonstrated no significant effects on fT3 levels after vitamin D supplementation.</div></div><div><h3>Conclusion</h3><div>Most findings suggest that vitamin D supplementation had no significant effects on thyroid hormones and more than half indicated no significant effect on TSH levels. Nevertheless, high-quality research is further required to prove these achievements and evaluate vitamin D effects on other markers of thyroid function.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 1","pages":"Pages 37-46"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143166524","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}
Marga Giménez , Antoni Castells , David Font , Josep Vidal , Ignacio Conget
{"title":"Hacia una atención digital personalizada para las personas con diabetes tipo 1. ¿Estamos preparados?","authors":"Marga Giménez , Antoni Castells , David Font , Josep Vidal , Ignacio Conget","doi":"10.1016/j.endinu.2024.07.003","DOIUrl":"10.1016/j.endinu.2024.07.003","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 1","pages":"Pages 47-49"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143167455","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}