Endocrinologia Diabetes Y Nutricion最新文献

{"title":"Gestational diabetes mellitus early prediction by maternal body fat index: A cohort study","authors":"Alexandre da Silva Rocha ,&nbsp;Juliana Rombaldi Bernardi ,&nbsp;Renata de Oliveira Neves ,&nbsp;Salete de Matos ,&nbsp;Daniela Cortés Kretzer ,&nbsp;Alice Carvalhal Schöffel ,&nbsp;Marcelo Zubaran Goldani ,&nbsp;José Antônio de Azevedo Magalhães","doi":"10.1016/j.endien.2024.03.015","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.015","url":null,"abstract":"<div><h3>Objectives</h3><p>To compare the performance of maternal body fat index (BFI) assessed during the first 20<!--> <!-->+<!--> <!-->6 weeks among 138 pregnant women in an ultrasound outpatient clinic as a predictor of gestational diabetes mellitus (GDM) later in pregnancy.</p></div><div><h3>Method</h3><p>Maternal visceral and subcutaneous fat was measured with a convex ultrasound probe placed in two locations on the maternal abdominal surface: the first in the mid-sagittal epigastric region, visualising epigastric fat, and the second 2<!--> <!-->cm above the maternal umbilical scar, visualising periumbilical fat. Ultrasound callipers measured the distance from dermal edge to the <em>linea alba</em> and after from the <em>linea alba</em> to the anterior hepatic surface (epigastric fat). Periumbilical fat was measured from the dermal edge to the <em>linea alba</em> and after from the <em>linea alba</em> to the anterior aortic surface. The BFI formula was [visceral adipose tissue (mm)<!--> <!-->×<!--> <!-->subcutaneous adipose tissue (mm)]/maternal height (cm).</p></div><div><h3>Results</h3><p>The best thresholds for predicting GDM outcome for epigastric and periumbilical BFI were 1.2 and 4.8, respectively. Odds ratio, sensitivity and specificity were 5.88 (95% CI 1.86–18.6), 80.9%, 58.0% for the epigastric site and 6.31 (95% CI 1.73–22.94), 84.2%, 54.2% for the periumbilical site. Pre-pregnancy body mass index compatible with adult obesity shows inadequate predictive performance for GDM outcome. Only epigastric BFI above 1.2 maintained statistical significance for GDM in the logistic regression analysis, when compared to periumbilical BFI above 4.8.</p></div><div><h3>Conclusion</h3><p>Epigastric BFI above 1.2 during the first half of pregnancy may help identify women at risk of developing GDM later in pregnancy.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 110-118"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308579","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":"Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms","authors":"Ana Piñar-Gutiérrez ,&nbsp;Miguel Ángel Mangas-Cruz ,&nbsp;Irene de Lara-Rodríguez ,&nbsp;Pablo Remón-Ruiz ,&nbsp;Diego del Can-Sánchez ,&nbsp;María Tous Castillo ,&nbsp;Alfonso Pumar-López","doi":"10.1016/j.endien.2024.03.016","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.016","url":null,"abstract":"<div><h3>Introduction/Objectives</h3><p>Mutations in the <em>ARMC5</em> (armadillo repeat containing 5, OMIM <span>615549</span><svg><path></path></svg>) gene, a putative tumor suppressor gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (BMAH). Familial BMAH is thought to be caused by two mutations, one germline and the other somatic, as suggested by the 2-hit theory. The objective is to describe a new mutation and develop its clinical characteristics and implications.</p></div><div><h3>Methods, Results and Conclusions</h3><p>We present an affected family with 11 members carrying a novel mutation of the <em>ARMC5</em> gene (NM_001288767.1): c.2162T&gt;C p. (Leu721Pro). Two of the carriers developed clinical Cushing's syndrome (CS), two mild autonomous cortisol secretion (MACS) and one presented with autonomous cortisol secretion (ACS). Four patients developed other tumors, three of whom died from this cause. It is not known whether these tumors could be related to the described mutation.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 119-123"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308606","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":"Dysphagia as a primary manifestation of basilar impression: A case report","authors":"Andrea Ruiz Hernández ,&nbsp;Elena González Arnáiz","doi":"10.1016/j.endien.2024.03.013","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.013","url":null,"abstract":"<div><p>Secondary basilar invagination or basilar impression is an anomaly at the craniovertebral junction where the odontoid process prolapses into the foramen magnum with the risk of compressing adjacent structures and obstructing the proper flow of cerebrospinal fluid (CSF). The incidence is less than 1% in the general population and occurs mainly in the first three decades of life when it is associated with malformations of the neuroaxis. In older age, the main aetiologies are diseases that alter bone mineral density. The clinical course is usually progressive and the most common symptoms are asthenia, cervical pain and restricted movement, but also dysphonia, dyspnoea and dysphagia. It is a progressive disease which, if left untreated, can cause severe neurological damage and death. We report the case of a 79-year-old woman with osteoporosis and progressive dysphagia leading to severe malnutrition, which conditioned the decision not to intervene due to the high perioperative risk.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 133-137"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308608","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 report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report","authors":"José Atencia Goñi ,&nbsp;María Orera Clemente ,&nbsp;Mariano José Del Valle Diéguez ,&nbsp;Laura González Fernández ,&nbsp;Olga González Albarrán","doi":"10.1016/j.endien.2024.03.011","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.011","url":null,"abstract":"<div><p>The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 138-143"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308609","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":"Glycemic variability in diagnosis of gestational diabetes as predictor of pharmacological treatment","authors":"Rosa Márquez-Pardo ,&nbsp;María-Gloria Baena-Nieto ,&nbsp;Juan-Antonio Córdoba-Doña ,&nbsp;Concepción Cruzado-Begines ,&nbsp;Lourdes García-García-Doncel ,&nbsp;Manuel Aguilar-Diosdado ,&nbsp;Isabel-María Torres-Barea","doi":"10.1016/j.endien.2024.03.010","DOIUrl":"10.1016/j.endien.2024.03.010","url":null,"abstract":"<div><h3>Introduction</h3><p>To establish whether glycemic variability (GV) parameters used when gestational diabetes mellitus (GDM) has been diagnosed could help predict the probability that a patient will need pharmacological treatment, and to analyze the link of these parameters to the development of maternal-fetal complications.</p></div><div><h3>Materials and methods</h3><p>A prospective study of 87 women with GDM who underwent retrospective continuous glucose monitoring (CGM) for six days between weeks 26 and 32 of gestation, following diagnosis. The mean glycemia levels and GV variables were analyzed together with their link to maternal-fetal complications, and the need for pharmacological treatment. ROC (receiver operating characteristic) curves were developed to determine validity to detect the need for pharmacological treatment.</p></div><div><h3>Results</h3><p>Patients with higher mean glycemia (p &lt; 0.001) and continuous overlapping of net glycemic action in a period of n-hours (CONGAn) (p = 0.001) required pharmacological treatment. The ROC curves showed cut-off points of 98.81 mg/dL for mean glycemia, and 86.70 mg/dL for CONGAn, with 83.3% sensitivity and 67.8% specificity for both parameters. No relation between the GV parameters and development of maternal-fetal complications was observed.</p></div><div><h3>Conclusions</h3><p>The use of CGM, once GDM is diagnosed, enables us to identify those patients who would benefit from closer monitoring during gestation, and facilitate a speedier take-up of pharmacological treatment. However, prospective studies involving a higher number of patients are needed, as well as a cost assessment for recommending the use of CGM following GDM diagnosis.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 96-102"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140926","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":"Difficulties of gender affirming treatment in trans women with BRCA1+ mutation: A case report","authors":"Ana Piñar-Gutiérrez ,&nbsp;Suset Dueñas Disotuar ,&nbsp;Irene de Lara-Rodríguez ,&nbsp;Sandra Amuedo-Domínguez ,&nbsp;Carmen González-Cejudo ,&nbsp;José Tejero-Delgado ,&nbsp;Miguel Ángel Mangas-Cruz","doi":"10.1016/j.endien.2023.12.002","DOIUrl":"https://doi.org/10.1016/j.endien.2023.12.002","url":null,"abstract":"<div><p>Gender affirming treatment in transgender women is based on a combination of antiandrogens and estrogens, with the latter maintained over the long term. When prescribing these treatments, we must consider the possibility of developing estrogen-dependent breast cancer. In transgender women, a breast cancer incidence of 4.1 per 100,000 has been estimated, which would increase the risk by 46% in relation to cisgender men but decrease it by 70% in relation to cisgender women. It is known that certain gene mutations such as BRCA1 imply an increased risk of breast cancer, but at present the risk in transgender women with BRCA1 treated with estrogens is not well established. We present the case of a transgender woman with a family history of breast cancer and BRCA1 mutation and the therapeutic decisions made in a multidisciplinary team. Following this case, we review and discuss the published literature.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 144-148"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308577","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":"An effective insulin infusion protocol for severe traumatic brain injury patients: A retrospective observational study","authors":"Jie Chen,&nbsp;Bingbing Ye,&nbsp;Feng Lin,&nbsp;Wenchao Cai,&nbsp;Rui Chen,&nbsp;Zhanwei Ruan","doi":"10.1016/j.endien.2024.03.014","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.014","url":null,"abstract":"<div><h3>Purpose</h3><p>Severe traumatic brain injury (sTBI) patients often experience stress hyperglycaemia, which can lead to negative outcomes. This study aims to introduce an effective insulin infusion protocol specifically designed for sTBI patients.</p></div><div><h3>Methods</h3><p>Data was collected from all sTBI patients during two periods: 1 October 2019 to 30 April 2020, and 1 June 2020 to 31 December 2020. In May 2020, a new insulin infusion protocol was implemented. Blood glucose management, infection, coagulation, and prognosis were compared in these two periods.</p></div><div><h3>Result</h3><p>195 patients were included, with 106 using the new protocol. The proportion of hyperglycaemia decreased from 40.04% to 26.91% (<em>P</em> <!-->&lt;<!--> <!-->0.05), and the proportion of on-target blood glucose levels increased from 35.69% to 38.98% (<em>P</em> <!-->&lt;<!--> <!-->0.05). Average blood glucose levels decreased from 9.98<!--> <!-->±<!--> <!-->2.79<!--> <!-->mmol/L to 8.96<!--> <!-->±<!--> <!-->2.82<!--> <!-->mmol/L (<em>P</em> <!-->&lt;<!--> <!-->0.05). There was no substantial increase in hypoglycaemia, which remained controlled below 1%. The new protocol positively influenced glucose concentration and dispersion trends. There were no significant differences in catheter-related infections, antibiotic use, mechanical ventilation (MV) duration, length of stay in ICU, Glasgow Outcome Scale (GOS), or mortality. However, the conventional protocol group had a higher coagulation tendency (<em>R</em>-value of thromboelastography 4.80<!--> <!-->±<!--> <!-->1.35<!--> <!-->min vs. 5.52<!--> <!-->±<!--> <!-->1.87<!--> <!-->min, <em>P</em> <!-->&lt;<!--> <!-->0.05), with no difference in deep vein thrombosis (DVT) incidence.</p></div><div><h3>Conclusion</h3><p>Our findings suggest that a customized insulin infusion process for sTBI patients can effectively manage blood glucose. While there is no significant improvement in infection control or prognosis, it may have a positive impact on coagulation without affecting the occurrence of DVT.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 103-109"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308578","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":"New formulations of levothyroxine in the treatment of hypothyroidism","authors":"Pedro Iglesias","doi":"10.1016/j.endien.2024.03.009","DOIUrl":"10.1016/j.endien.2024.03.009","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 93-95"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132881","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":"Acute pancreatitis due to different semaglutide regimens: An updated meta-analysis","authors":"Walter Masson ,&nbsp;Martín Lobo ,&nbsp;Leandro Barbagelata ,&nbsp;Augusto Lavalle-Cobo ,&nbsp;Juan P. Nogueira","doi":"10.1016/j.endien.2024.03.012","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.012","url":null,"abstract":"<div><h3>Objectives</h3><p>Some concerns persist regarding the safety of semaglutide. The objective of this updated meta-analysis is to assess the risk of acute pancreatitis with the use of semaglutide, assessing the results according to the different administration regimens.</p></div><div><h3>Methods</h3><p>We performed an updated meta-analysis of randomised, placebo-controlled studies of semaglutide therapy that report acute pancreatitis. This meta-analysis was performed in line with PRISMA guidelines. A global and stratified analysis according to the therapeutic scheme used was performed using the fixed-effects model.</p></div><div><h3>Results</h3><p>Twenty-one eligible trials of semaglutide, including 34,721 patients, were identified and considered eligible for the analyses. Globally, semaglutide therapy was not associated with an increased risk of acute pancreatitis (OR 0.7; 95% CI 0.5–1.2, <em>I</em>² 0%). When we analysed the studies according to the different schemes used, the results were similar (group with oral semaglutide: OR 0.40; 95% CI 0.10–1.60, <em>I</em>² 0%; group with low subcutaneous doses of semaglutide: OR 0.80; 95% CI 0.40–1.90, <em>I</em>² 0%; group with high subcutaneous doses of semaglutide: OR 0.70; 95% CI 0.50–1.20, <em>I</em>² 0%; interaction <em>p</em>-value<!--> <!-->=<!--> <!-->0.689).</p></div><div><h3>Conclusion</h3><p>This updated meta-analysis demonstrates that the use of semaglutide is not associated with an increased risk of acute pancreatitis compared to placebo. In the stratified analysis, the results were similar with the different semaglutide regimens analysed.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 3","pages":"Pages 124-132"},"PeriodicalIF":1.9,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140308607","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":"Quality of life of patients with thyroid cancer in Colombia","authors":"Oscar Gómez ,&nbsp;Alvaro Sanabria","doi":"10.1016/j.endien.2024.03.007","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.007","url":null,"abstract":"<div><h3>Introduction</h3><p>Quality of life (QoL) in thyroid cancer patients is comparable to patients with other tumours with worse prognosis. The aim was to evaluate QoL in Colombian patients with thyroid carcinoma and to explore the association of QoL scores with patient features.</p></div><div><h3>Methods</h3><p>This is a cross-sectional study. The present research was carried out from data obtained for the validation study of the Spanish version of the THYCA-QoL. Adult patients with thyroid carcinoma who underwent total or partial thyroidectomy were included and asked to complete the Spanish-validated versions of the THYCA-QoL and EORTC QLQ-C30 questionnaires. The scores of each domain and single items underwent linear transformation to values of 0–100. Comparisons of scale scores with clinical variables were performed.</p></div><div><h3>Results</h3><p>We included 293 patients. The global EORTC QLQ-C30 score was 73.2<!--> <!-->±<!--> <!-->22.1 and the domains with poorer values were emotional and cognitive and the symptoms with poorer values were insomnia and fatigue. The global THYCA-QOL score was 28.4<!--> <!-->±<!--> <!-->17.8. The domains with poorer values were neuromuscular and psychological and the single items with poorer values were headaches and tingling hands/feet.</p></div><div><h3>Conclusion</h3><p>Colombian patients with thyroid cancer have a good prognosis, but they experience important problems related to QoL. QoL was influenced by demographic and clinical factors such as age, sex functional status and clinical stage.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 2","pages":"Pages 61-70"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140296671","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}