Endocrinologia Diabetes Y Nutricion最新文献

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Glycemic variability in diagnosis of gestational diabetes as predictor of pharmacological treatment 妊娠糖尿病诊断中的血糖变异性作为药物治疗的预测指标。
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI: 10.1016/j.endien.2024.03.010
Rosa Márquez-Pardo , María-Gloria Baena-Nieto , Juan-Antonio Córdoba-Doña , Concepción Cruzado-Begines , Lourdes García-García-Doncel , Manuel Aguilar-Diosdado , Isabel-María Torres-Barea
{"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}
引用次数: 0
Difficulties of gender affirming treatment in trans women with BRCA1+ mutation: A case report BRCA1+ 基因突变的变性女性接受性别平权治疗的困难:病例报告
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI: 10.1016/j.endien.2023.12.002
Ana Piñar-Gutiérrez , Suset Dueñas Disotuar , Irene de Lara-Rodríguez , Sandra Amuedo-Domínguez , Carmen González-Cejudo , José Tejero-Delgado , Miguel Ángel Mangas-Cruz
{"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}
引用次数: 0
An effective insulin infusion protocol for severe traumatic brain injury patients: A retrospective observational study 严重脑外伤患者的有效胰岛素输注方案:回顾性观察研究
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI: 10.1016/j.endien.2024.03.014
Jie Chen, Bingbing Ye, Feng Lin, Wenchao Cai, Rui Chen, Zhanwei Ruan
{"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}
引用次数: 0
New formulations of levothyroxine in the treatment of hypothyroidism 治疗甲状腺功能减退症的左甲状腺素新配方。
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI: 10.1016/j.endien.2024.03.009
Pedro Iglesias
{"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}
引用次数: 0
Acute pancreatitis due to different semaglutide regimens: An updated meta-analysis 不同的塞马鲁肽方案导致急性胰腺炎:最新荟萃分析
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-03-01 DOI: 10.1016/j.endien.2024.03.012
Walter Masson , Martín Lobo , Leandro Barbagelata , Augusto Lavalle-Cobo , Juan P. Nogueira
{"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><sup>2</sup> 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><sup>2</sup> 0%; group with low subcutaneous doses of semaglutide: OR 0.80; 95% CI 0.40–1.90, <em>I</em><sup>2</sup> 0%; group with high subcutaneous doses of semaglutide: OR 0.70; 95% CI 0.50–1.20, <em>I</em><sup>2</sup> 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}
引用次数: 0
Quality of life of patients with thyroid cancer in Colombia 哥伦比亚甲状腺癌患者的生活质量
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-02-01 DOI: 10.1016/j.endien.2024.03.007
Oscar Gómez , Alvaro Sanabria
{"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}
引用次数: 0
Diet low in fodmaps: fundamentals, evidence and controversies 低豆渣饮食:基本原理、证据和争议。
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-02-01 DOI: 10.1016/j.endien.2024.03.002
Ana Zugasti Murillo
{"title":"Diet low in fodmaps: fundamentals, evidence and controversies","authors":"Ana Zugasti Murillo","doi":"10.1016/j.endien.2024.03.002","DOIUrl":"10.1016/j.endien.2024.03.002","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 2","pages":"Pages 41-43"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140899","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}
引用次数: 0
Risk factors associated with glomerular filtration rate in Mexican adults with type 2 diabetes mellitus 墨西哥成年 2 型糖尿病患者肾小球滤过率的相关风险因素。
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-02-01 DOI: 10.1016/j.endien.2024.03.003
Gloria Mendoza López , Alva Belen Morales Villar , Andrea Patricia Tejada Bueno , Jessica Lozada Hernández , Luis Rey García Cortes , Jorge Maldonado Hernández
{"title":"Risk factors associated with glomerular filtration rate in Mexican adults with type 2 diabetes mellitus","authors":"Gloria Mendoza López ,&nbsp;Alva Belen Morales Villar ,&nbsp;Andrea Patricia Tejada Bueno ,&nbsp;Jessica Lozada Hernández ,&nbsp;Luis Rey García Cortes ,&nbsp;Jorge Maldonado Hernández","doi":"10.1016/j.endien.2024.03.003","DOIUrl":"10.1016/j.endien.2024.03.003","url":null,"abstract":"<div><h3>Introduction</h3><p>Type 2 diabetes mellitus (T2DM) is related to glomerular filtration rate (GFR) impairment, which is one of the main causes of chronic kidney disease. The objective of this study was to identify the risk factors related to GFR in Mexican adults with T2DM, using a validated multiple linear regression model (MLRM), with emphasis in body adiposity, glycemic control, duration of the diabetes and other relevant risk factors.</p></div><div><h3>Materials and methods</h3><p>A cross-sectional, analytical, and observational study was carried out in 252 adults with a previous diagnosis of T2DM. Body mass index (BMI) and waist circumference (WC) were determined and a fasting blood sample was collected for glucose, creatinine and HbA1c determinations. GFR was calculated with the Cockcroft–Gault equation adjusted for body surface area. Four MLRM were performed to determine the factors related to the GFR; it was evaluated whether these models complied with the statistical assumptions of the linear regression model.</p></div><div><h3>Results</h3><p>The average age of the participants was 60 ± 12 years, 62.3% of them were women. GFR correlated with BMI and WC; age and duration of the diabetes were associated inversely. Model 4 of the MLRM reported a coefficient of determination of 53.5% where the variables BMI (<em>β</em> = 1.31), male sex (<em>β</em> = −6.01), duration of T2DM (<em>β</em> = −0.57), arterial hypertension (<em>β</em> = −6.53) and age (<em>β</em> = −1.45) were simultaneously and significantly related to the GFR.</p></div><div><h3>Conclusions</h3><p>Older age, male sex, longer duration of T2DM and the presence of arterial hypertension were associated with a decrease in the GFR; BMI and WC were directly associated. No effect of glucose and HbA1c on GFR was observed.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 2","pages":"Pages 44-52"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140140927","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}
引用次数: 0
Severe hypertriglyceridaemia and hypervitaminosis D secondary to multiple myeloma 继发于多发性骨髓瘤的严重高甘油三酯血症和维生素 D 过多症
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-02-01 DOI: 10.1016/j.endien.2024.03.001
Luis Francisco de Miguel-Rodríguez , Carla Francés-Artigas , María Paz Ribas-García , Laura Pérez-Sanchez , Carlos Morillas-Ariño
{"title":"Severe hypertriglyceridaemia and hypervitaminosis D secondary to multiple myeloma","authors":"Luis Francisco de Miguel-Rodríguez ,&nbsp;Carla Francés-Artigas ,&nbsp;María Paz Ribas-García ,&nbsp;Laura Pérez-Sanchez ,&nbsp;Carlos Morillas-Ariño","doi":"10.1016/j.endien.2024.03.001","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.001","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 2","pages":"Pages 88-90"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140296675","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}
引用次数: 0
Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene 一个因胰岛素基因新突变而患单基因糖尿病的家族的临床、血糖特征和治疗方法
IF 1.9 4区 医学
Endocrinologia Diabetes Y Nutricion Pub Date : 2024-02-01 DOI: 10.1016/j.endien.2024.03.006
Paloma Pérez López , Pilar Bahillo Curieses , Pablo Fernández , Rosa Martínez , Esther Delgado , Ana Ortolá , Daniel de Luis , Gonzalo Díaz-Soto
{"title":"Clinical, glycometric features and treatment in a family with monogenic diabetes due to a new mutation in the insulin gene","authors":"Paloma Pérez López ,&nbsp;Pilar Bahillo Curieses ,&nbsp;Pablo Fernández ,&nbsp;Rosa Martínez ,&nbsp;Esther Delgado ,&nbsp;Ana Ortolá ,&nbsp;Daniel de Luis ,&nbsp;Gonzalo Díaz-Soto","doi":"10.1016/j.endien.2024.03.006","DOIUrl":"https://doi.org/10.1016/j.endien.2024.03.006","url":null,"abstract":"<div><p>Monogenic diabetes caused by changes in the gene that encodes insulin (INS) is a very rare form of monogenic diabetes (&lt;1%). The aim of this work is to describe the clinical and glycaemic control characteristics over time from four members of a family diagnosed with monogenic diabetes with the novel mutation: c.206del,p.(Gly69Aalfs*62) located in exon 3 of the gene INS. 75% are females, with debut in adolescence and negative autoimmunity. In all cases, C-peptide is detectable decades after diagnosis (&gt;0.6<!--> <!-->ng/ml). Currently, patients are being treated either with insulin in a bolus-basal regimen, oral antidiabetics or hybrid closed loop system. Monogenic diabetes due to mutation in the INS is an entity with heterogeneous presentation, whose diagnosis requires high suspicion and presents an important clinical impact. Given the lack of standards in this regard, therapy must be individualized, although insulin therapy could help preserve beta cell functionality in these subjects.</p></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"71 2","pages":"Pages 77-82"},"PeriodicalIF":1.9,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140296672","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}
引用次数: 0
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