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Sodium evolution in hyponatremia: A retrospective analysis in a tertiary care center 钠在低钠血症中的演变:一个三级保健中心的回顾性分析。
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501563
Karina Mercedes Becerra Añez , Carlos Sánchez Juan , Ana Artero Fullana , Ana Jiménez Portilla , Juan Carlos Ferrer García

Introduction

Hyponatremia is the most common electrolyte disorder in hospitals. This study analyses the evolution of serum sodium levels during hospitalization.

Materials and methods

This is an observational, retrospective, and analytical study. Patients hospitalized for hyponatremia in a tertiary care hospital were included. Demographic and laboratory variables were collected, and hyponatremia was classified according to severity and etiology. Criteria and risk factors for serum sodium overcorrection were defined, and the effectiveness of treatments used for hyponatremia was described. The Chi-square test was used for qualitative variables, while Student’s t-test and Mann–Whitney U test were applied for quantitative variables. Predictive models were also used to determine the risk of an event.

Results

A total of 216 patients hospitalized for hyponatremia were included, with a higher prevalence in patients over 75 years of age and females. Longer hospital stays were associated with older age and male gender. Severe hyponatremia and hypokalemia were linked to a higher risk of overcorrection. The therapies for hyponatremia correction across the three groups were effective either alone or in combination. Additionally, severe hyponatremia was associated with increased 5-year mortality.

Conclusions

Hyponatremia in hospitalized patients is more prevalent in those over 75 years old and in females. Severe hyponatremia increases 5-year mortality. There are factors that increase the risk of overcorrection, so treatment should be carefully managed to avoid osmotic demyelination syndrome (ODS).
低钠血症是医院最常见的电解质紊乱。本研究分析住院期间血清钠水平的变化。材料和方法:这是一项观察性、回顾性和分析性研究。在三级护理医院因低钠血症住院的患者被纳入研究。收集人口统计学和实验室变量,并根据严重程度和病因对低钠血症进行分类。定义了血清钠校正过度的标准和危险因素,并描述了低钠血症治疗的有效性。定性变量采用卡方检验,定量变量采用学生t检验和Mann-Whitney U检验。预测模型也用于确定事件的风险。结果:共纳入216例因低钠血症住院的患者,其中75岁以上患者和女性患病率较高。住院时间较长与年龄和男性有关。严重的低钠血症和低钾血症与矫枉过正的风险较高有关。三组的低钠血症纠正治疗无论是单独还是联合都有效。此外,严重的低钠血症与5年死亡率增加有关。结论:住院患者低钠血症在75岁以上患者和女性中更为普遍。严重低钠血症增加5年死亡率。有一些因素会增加矫直过度的风险,因此治疗应谨慎管理以避免渗透性脱髓鞘综合征(ODS)。
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引用次数: 0
Ectopic adrenocorticotropic hormone syndrome due to olfactory neuroblastoma: A case report and literature review 嗅觉神经母细胞瘤所致异位促肾上腺皮质激素综合征1例报告并文献复习
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501576
Mónica Baptista Lopes , Ricardo Fonseca , João Fernandes Serôdio , Ricardo Paquete Oliveira , José Delgado Alves
Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is a cause of Cushing's syndrome usually associated with neuroendocrine tumors. Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of the olfactory epithelium. This is the case of a 56-year-old woman with an ONB presenting with EAS. After initiating metyrapone, she developed a Pneumocystis jirovecii pneumonia. Following successful treatment of the infection, she underwent surgical tumor excision and radiotherapy, which has been in remission for the past 3 years. The authors provide a literature review of the 30 previously published cases of ONB presenting with EAS. Most were reported in middle-aged men, with a recurrence rate of 15.6% (3 patients eventually died). A total of 9.5% of all reported had an infection after starting corticosteroid-blocking therapy. ONB is a very rare cause of EAS with poor prognosis and a relapsing course. In the presence of severe hypercortisolism, chemoprophylaxis for common opportunistic agents must be considered.
异位促肾上腺皮质激素(ACTH)综合征(EAS)是库欣综合征的病因之一,通常与神经内分泌肿瘤相关。嗅觉神经母细胞瘤是一种罕见的嗅觉上皮恶性肿瘤。这是一名56岁的女性ONB,表现为EAS。在使用美替拉酮后,她出现了乙氏肺囊虫肺炎。在成功治疗感染后,她接受了手术肿瘤切除和放疗,在过去的3年里病情一直缓解。作者提供了一个文献综述的30例先前发表的ONB表现为EAS。多数为中年男性,复发率为15.6%(最终死亡3例)。在所有报告的患者中,有9.5%的人在开始皮质类固醇阻断治疗后发生了感染。ONB是一种非常罕见的病因,预后差,易复发。在存在严重的高皮质醇血症时,必须考虑对常见的机会性药物进行化学预防。
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引用次数: 0
CANTCAM project (ANaplastic Thyroid Carcinoma in CAstilla-La Mancha). Multicenter retrospective study CANTCAM项目(CAstilla-La Mancha的间变性甲状腺癌)。多中心回顾性研究。
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501580
Sandra Herranz-Antolín , Rosa Quílez-Toboso , Jesús Moreno-Fernández , Javier González-López , María López-Iglesias , Julia Sastre

Objective

To analyze the clinical presentation, diagnosis, management and survival of Anaplastic Thyroid Carcinomas (ATC) in the Hospitals of Castilla-La Mancha (Spain).

Material and methods

Retrospective multicenter descriptive study. Adult patients with ATC diagnosed from 2002 to 2022 were included.

Results

Of the 43 patients included, 53.5% were women, with a mean age of 72 years (SD 10) at the time of diagnosis. Symptoms were present in 100% of the patients and the most frequent symptom was a rapidly growing mass (79.1% of the cases). Infiltration of neighboring structures (76.7%), lymph node involvement (78.1%) and distant metastasis (51.2%). The AJCC-TNM category was IVa in 9.3%, IVb in 39.5% and IVc in 51.2%. BRAFV600E determination was not performed in 74.4% and 5 of the 11 cases in which it was evaluated (45.4%) had the mutation. Active treatment was received in 76.7% of patients in the first 3 mo. Surgical approach was performed in 63.6% of the cases, with complete resection in 23.8%, and 51.5% received multimodality treatment in this period. 42.3% received active treatment during follow-up (≥ 3 mo), primarily systemic chemotherapy (72.7%), and 54.4% received multimodality treatment during this period. The median specific survival was 3.5 mo (95% CI 1.7–5.2). Factors associated with longer specific survival were initial multimodality treatment (p < 0.01) or during follow-up (p = 0.01) and initial BRAF/MEK inhibitor treatment (p = 0.04).

Conclusion

CAT is an infrequent and aggressive tumor that requires early, multidisciplinary, personalized and multimodal treatment.
目的:分析西班牙卡斯蒂利亚-拉曼查医院甲状腺间变性癌(ATC)的临床表现、诊断、治疗及生存情况。材料和方法:回顾性多中心描述性研究。纳入了2002年至2022年诊断为ATC的成年患者。结果:纳入的43例患者中,53.5%为女性,诊断时平均年龄为72岁(SD 10)。100%的患者出现症状,最常见的症状是快速增长的肿块(79.1%的病例)。邻近组织浸润(76.7%)、淋巴结受累(78.1%)和远处转移(51.2%)。AJCC-TNM分类中IVa占9.3%,IVb占39.5%,IVc占51.2%。74.4%的患者未进行BRAFV600E检测,11例患者中有5例(45.4%)存在突变。在前3个 月内,76.7%的患者接受了积极治疗。63.6%的病例行手术入路,23.8%的病例行完全切除,51.5%的病例在此期间接受了多模式治疗。42.3%的人在随访期间接受了积极治疗(≥ 3 mo),主要是全身化疗(72.7%),54.4%的人在此期间接受了多模式治疗。中位特异性生存期为3.5 mo (95% CI 1.7-5.2)。结论:CAT是一种罕见的侵袭性肿瘤,需要早期、多学科、个性化和多模式的治疗。
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引用次数: 0
Adipopathy and dysglycaemia in systemic metabolic disease: Towards an integrated multidisciplinary approach led by the endocrinologist 全身性代谢性疾病中的脂肪病和血糖异常:由内分泌学家领导的综合多学科方法
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501600
Núria Alonso , María Teresa Julián
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引用次数: 0
A novel approach to finding the compositional differences and biomarkers in gut microbiota in type 2 diabetic patients via meta-analysis, data-mining, and multivariate analysis 通过荟萃分析、数据挖掘和多变量分析,发现2型糖尿病患者肠道微生物群组成差异和生物标志物的新方法
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501561
Faezeh Ebrahimi , Hadi Maleki , Mansour Ebrahimi , Amir Hossein Beiki

Background/Purpose of the study

Type 2 diabetes mellitus (T2DM)—one of the fastest globally spreading diseases—is a chronic metabolic disorder characterized by elevated blood glucose levels. It has been suggested that the composition of gut microbiota plays key roles in the prevalence of T2DM. In this study, a novel approach of large-scale data mining and multivariate analysis of the gut microbiome of T2DM patients and healthy controls was conducted to find the key compositional differences in their microbiota and potential biomarkers of the disease.

Methods

First, suitable datasets were identified (9 in total with 946 samples), analyzed, and their operational taxonomic units (OTUs) were computed by identical parameters to increase accuracy. The following OTUs were merged and compared based on their health status, and compositional differences detected. For biomarker identification, the OTUs were subjected to 9 different attribute weighting models. Additionally, OTUs were independently analyzed by multivariate algorithms (LEfSe test) to verify the realized biomarkers.

Results

Overall, 23 genera and 4 phyla were identified as possible biomarkers. At genus level, the decrease of Bacteroides, Methanobrevibacter, Paraprevotella, and [Eubacterium] hallii group in T2DM and the increase of Prevotella, Megamonas, Megasphaera, Ligilactobacillus, and Lachnoclostridium were selected as biomarkers; and at phylum level, the increase of Synergistota and the decrease of Euryarchaeota, Desulfobacterota (Thermodesulfobacteriota), and Ptescibacteria.

Conclusion

This is the first study ever conducted to find the microbial compositional differences and biomarkers in T2DM using data mining models applied on a widespread metagenome dataset and verified by multivariate analysis.
背景/研究目的2型糖尿病(T2DM)是全球传播最快的疾病之一,是一种以血糖水平升高为特征的慢性代谢性疾病。有研究表明,肠道菌群的组成在T2DM的患病率中起着关键作用。在这项研究中,我们采用了一种新的方法,对T2DM患者和健康对照者的肠道微生物群进行大规模数据挖掘和多变量分析,以发现他们肠道微生物群的关键组成差异和潜在的T2DM生物标志物。方法首先选择9个合适的数据集(共946份样本)进行分析,采用相同的参数计算其操作分类单位(OTUs),以提高准确性;以下otu根据其健康状态进行合并和比较,并检测到组成差异。为了进行生物标志物鉴定,对otu进行了9种不同的属性加权模型。此外,通过多元算法(LEfSe检验)对otu进行独立分析,以验证所实现的生物标志物。结果共鉴定出可能的生物标志物23属4门。在属水平上,T2DM患者拟杆菌(Bacteroides)、甲烷杆菌(Methanobrevibacter)、拟杆菌(Paraprevotella)和哈里真杆菌(Eubacterium)组减少,普雷沃菌(Prevotella)、巨单胞菌(Megamonas)、巨孢子菌(Megasphaera)、乳酸菌(liilactobacillus)和Lachnoclostridium增加;在门水平上,增效菌群增加,Euryarchaeota、Desulfobacterota (Thermodesulfobacteriota)和Ptescibacteria群减少。本研究首次利用广泛的宏基因组数据集数据挖掘模型,并通过多变量分析进行验证,发现T2DM患者微生物组成差异和生物标志物。
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引用次数: 0
Predictors of length of hospital stay in patients presenting to the emergency department with hyperosmolar hyperglycemic crises 急诊高渗性高血糖危象患者住院时间的预测因素
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-06-01 DOI: 10.1016/j.endien.2025.501577
Tomás González-Vidal , Diego Rivas-Otero , Carmen Lambert , Jessica Ares Blanco , Elías Delgado-Álvarez , Edelmiro Menéndez Torre

Objective

To predict the length of hospital stay in hyperosmolar hyperglycemic crises (HHC) using variables available on admission.

Methods

We conducted a retrospective cohort study with 132 patients (65 [49.2%] men; median age 72 years; range 19–98 years) hospitalized for HHC (including hyperosmolar hyperglycemic state and diabetic ketoacidosis with elevated osmolality) in a Spanish teaching hospital. Baseline variables and those upon arrival to the emergency department were collected (both variables related to physical examination and biochemical tests), as well as the in-hospital mortality rate and overall length of hospital stay in survivors.

Results

Patients who died (n = 13) had higher total serum osmolality and higher C-reactive protein concentrations on admission vs survivors. Among survivors, the length of stay correlated positively with total serum osmolality (Rho = 0.398; p < 0.001) and C-reactive protein (Rho = 0.342; p < 0.001) on admission. Older age, female sex, lack of pre-admission diagnosis of insulin-requiring diabetes, impaired mental status on arrival, non-ketotic metabolic acidosis, and low serum potassium concentrations were also associated with long lengths of stay. In multivariate analysis, only serum glucose (one of the three components of total osmolality) and C-reactive protein concentrations on admission kept a positive association with the length of stay.

Conclusions

Hyperglycemia and elevated C-reactive protein on admission are independent predictors of long lengths of stay in survivors with HHC.
目的利用入院时可用的变量预测高渗性高血糖危像(HHC)的住院时间。方法对132例患者进行回顾性队列研究,其中65例(49.2%)男性;中位年龄72岁;年龄19-98岁)在西班牙一家教学医院因HHC(包括高渗性高血糖状态和糖尿病酮症酸中毒伴高渗)住院。收集基线变量和到达急诊科时的变量(这两个变量都与体格检查和生化测试有关),以及幸存者的住院死亡率和总住院时间。结果死亡患者(n = 13)入院时总血清渗透压和c反应蛋白浓度高于幸存者。在幸存者中,住院时间与血清总渗透压呈正相关(Rho = 0.398;p & lt;0.001)和c反应蛋白(Rho = 0.342;p & lt;0.001)。年龄较大、女性、入院前未诊断出需要胰岛素的糖尿病、入院时精神状态受损、非酮症代谢性酸中毒和血清钾浓度低也与住院时间过长有关。在多变量分析中,只有入院时的血清葡萄糖(总渗透压的三个组成部分之一)和c反应蛋白浓度与住院时间呈正相关。结论入院时高血糖和c反应蛋白升高是HHC存活患者住院时间的独立预测因素。
{"title":"Predictors of length of hospital stay in patients presenting to the emergency department with hyperosmolar hyperglycemic crises","authors":"Tomás González-Vidal ,&nbsp;Diego Rivas-Otero ,&nbsp;Carmen Lambert ,&nbsp;Jessica Ares Blanco ,&nbsp;Elías Delgado-Álvarez ,&nbsp;Edelmiro Menéndez Torre","doi":"10.1016/j.endien.2025.501577","DOIUrl":"10.1016/j.endien.2025.501577","url":null,"abstract":"<div><h3>Objective</h3><div>To predict the length of hospital stay in hyperosmolar hyperglycemic crises (HHC) using variables available on admission.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study with 132 patients (65 [49.2%] men; median age 72 years; range 19–98 years) hospitalized for HHC (including hyperosmolar hyperglycemic state and diabetic ketoacidosis with elevated osmolality) in a Spanish teaching hospital. Baseline variables and those upon arrival to the emergency department were collected (both variables related to physical examination and biochemical tests), as well as the in-hospital mortality rate and overall length of hospital stay in survivors.</div></div><div><h3>Results</h3><div>Patients who died (<em>n</em> <!-->=<!--> <!-->13) had higher total serum osmolality and higher C-reactive protein concentrations on admission vs survivors. Among survivors, the length of stay correlated positively with total serum osmolality (Rho<!--> <!-->=<!--> <!-->0.398; <em>p</em> <!-->&lt;<!--> <!-->0.001) and C-reactive protein (Rho<!--> <!-->=<!--> <!-->0.342; <em>p</em> <!-->&lt;<!--> <!-->0.001) on admission. Older age, female sex, lack of pre-admission diagnosis of insulin-requiring diabetes, impaired mental status on arrival, non-ketotic metabolic acidosis, and low serum potassium concentrations were also associated with long lengths of stay. In multivariate analysis, only serum glucose (one of the three components of total osmolality) and C-reactive protein concentrations on admission kept a positive association with the length of stay.</div></div><div><h3>Conclusions</h3><div>Hyperglycemia and elevated C-reactive protein on admission are independent predictors of long lengths of stay in survivors with HHC.</div></div>","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 6","pages":"Article 501577"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144263597","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 therapeutic options in the management of chronic hypoparathyroidism 慢性甲状旁腺功能减退症的新治疗选择。
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-05-01 DOI: 10.1016/j.endien.2025.101532
Juan J. Díez
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引用次数: 0
Adrenal hemorrhage: Case series and review of their management 肾上腺出血:病例系列及治疗回顾。
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-05-01 DOI: 10.1016/j.endien.2025.501579
María Carmen López García , Andrés Ruiz de Assin Valverde , Alejandro Sirvent Segovia , Cristina Lamas Oliveira , José Joaquín Alfaro Martínez
{"title":"Adrenal hemorrhage: Case series and review of their management","authors":"María Carmen López García ,&nbsp;Andrés Ruiz de Assin Valverde ,&nbsp;Alejandro Sirvent Segovia ,&nbsp;Cristina Lamas Oliveira ,&nbsp;José Joaquín Alfaro Martínez","doi":"10.1016/j.endien.2025.501579","DOIUrl":"10.1016/j.endien.2025.501579","url":null,"abstract":"","PeriodicalId":48650,"journal":{"name":"Endocrinologia Diabetes Y Nutricion","volume":"72 5","pages":"Article 501579"},"PeriodicalIF":1.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086516","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
Absolute and adjusted hand grip strength values in obese patients 肥胖患者的绝对握力值和调整后的握力值。
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-05-01 DOI: 10.1016/j.endien.2025.501560
Elena González Arnáiz , Juan José López Gómez , Diana Ariadel Cobo , Brisamar Estébanez , María García Duque , Carmen Dameto Pons , David Barajas Galindo , Diana García Sastre , Ana Urioste Fondo , María J. Cuevas , María D. Ballesteros Pomar

Background

Hand grip strength—measured by dynamometry—is an essential tool in nutritional assessment, particularly for detecting sarcopenia, even before weight or muscle mass loss is evident. In individuals with obesity, hand grip strength can help identify muscle weakness that may not be apparent due to high body mass. The purpose of this study is to describe the absolute and adjusted hand grip strength values for weight, height, body mass index (BMI), and appendicular skeletal muscle mass (ASMM) in obese patients. It also aims to determine the prevalence of low muscle strength in this group of patients and to compare these results with those obtained in a healthy population.

Methods

Prospective observational study including patients with obesity and healthy volunteers. Absolute and adjusted hand grip strength values for weight, height, BMI and appendicular muscle mass were determined in patients with obesity and compared with the results of healthy volunteers. Muscle strength was measured by hand grip strength according to Sánchez-Torralvo, Dodds, and < −2SD cut-off points of healthy reference population.

Results

The results obtained show that the absolute hand grip strength values are higher in healthy volunteers (30.7 ± 10.5 kg) vs patients with obesity (26.6 ± 9.7 kg); p < 0.008. As for hand grip strength values adjusted for height, weight, BMI and ASMM, they are also statistically significantly higher in healthy volunteers (18.0 ± 5.5 vs. 15.9 ± 5.4, p < 0.014; 05 ± 0.10 vs. 0.2 ± 0.06, p < 0.001; 1.4 ± 0.4 vs. 0.6 ± 0.2, p < 0.001; 1.5 ± 0.2 vs. 0.9 ± 0.3, p < 0.001). According to sex, men had significantly higher absolute and adjusted hand grip strength values in both obese patients and healthy volunteers. The prevalence of low muscle strength in patients with obesity goes from 14.5% up and 23.4% depending on the cut-off points used, being higher with those of Sánchez-Torralvo´s cut-off points. Based on sex distribution, obese men had a higher prevalence of low muscle strength with absolute hand grip strength values vs women, being these differences statistically significant only with the Sánchez-Torralvo´s cut-off points. In terms of the prevalence of low muscle strength with adjusted hand grip strength values, more variable percentages (3.2%–96.8%) were observed without clear differences across sexes.

Conclusions

Hand grip strength values in obese patients vary according to absolute or adjusted measurements. Obese patients have lower absolute and adjusted hand grip strength values vs the healthy population. However, more studies are needed to establish specific cut-off points for hand grip strength in patients with obesity.
背景:手握力是营养评估的重要工具,特别是在体重或肌肉质量明显下降之前检测肌肉减少症。对于肥胖的人来说,握力可以帮助识别由于高体重而不明显的肌肉无力。本研究的目的是描述肥胖患者的体重、身高、体重指数(BMI)和阑尾骨骼肌质量(ASMM)的绝对握力值和调整后的握力值。它还旨在确定这组患者中肌肉力量低下的患病率,并将这些结果与健康人群中获得的结果进行比较。方法:前瞻性观察研究,纳入肥胖患者和健康志愿者。测量肥胖患者的体重、身高、BMI和阑尾肌质量的绝对握力值和调整后的握力值,并与健康志愿者的结果进行比较。肌肉力量根据健康参考人群Sánchez-Torralvo、Dodds和< -2SD分界点通过握力测量。结果:健康志愿者的绝对握力值(30.7±10.5 kg)高于肥胖患者(26.6±9.7 kg);结论:肥胖患者的握力值根据绝对测量值或调整测量值而变化。与健康人群相比,肥胖患者的绝对握力值和调整后的握力值较低。然而,需要更多的研究来确定肥胖患者握力的具体分界点。
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引用次数: 0
Study of the C228T mutation of the TERT promoter in thyroid aspirative punctures of IV category of the Bethesda classification Bethesda分类IV类甲状腺穿刺中TERT启动子C228T突变的研究
IF 1.8 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-05-01 DOI: 10.1016/j.endien.2025.501564
Berta Bella Burgos , Ruben Carrera Salas , Ricard Onieva Carbajo , Catalina Padilla Navas , María del Carmen Ramos Guijo , Laura Escudero Larrá , Rosa María Rodríguez Millán , José Antonio Vázquez Luque , Silvia Hurtado Mas , Adrià Asensi Puig , Carmen María Blázquez Mañá , Santi Barcons Vilaplana , Ismail Capel Flores , Xavier Guirao Garriga , Víctor Pérez-Riverola , Mario Prenafeta Moreno , Neus Combalia Soriano , Ruth Orellana Fernández , Joan Carles Ferreres Piñas , María Rosa Bella-Cueto

Introduction

Since the C228T mutation in theTERT promoter (TERTp) 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).

Methodology

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 TERTp 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.

Results

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.

Conclusion

The study of the C228T mutation ofTERTp can be useful to detect malignancy and establish the best surgical approach in patients with thyroid FNA with a diagnosis of B.IV.
由于tert启动子(TERTp)的C228T突变几乎只在甲状腺恶性肿瘤中被发现,我们的目的是研究其在Bethesda分类(B.IV) IV类甲状腺细针穿刺(FNA)检测中的有用性。方法:从1993年至2015年间进行的fna中,我们选择了那些诊断为biv或同等水平并随后进行甲状腺切除术的患者。通过焦磷酸测序对肿瘤病例(腺瘤、低风险肿瘤和癌)中TERTp的C228T突变进行回顾性研究,研究对象包括手术标本和FNA材料(如果可行)。结果:发现了79例诊断为biv的病例,并对61例相应肿瘤进行了突变研究,确定了10例突变(占该系列的12.6%),在低分化癌(PDC)或少量PDC成分(45%),甲状腺癌死亡(50%)和存活但持续存在的甲状腺癌(50%)患者中较高的存在。8例中有7例突变,细胞学检查结果满意。在4例患者中,术前对突变的了解可以避免两期甲状腺切除术。结论:研究tertp的C228T突变对诊断为biv的甲状腺FNA患者的恶性肿瘤检测和确定最佳手术入路有重要意义。
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引用次数: 0
期刊
Endocrinologia Diabetes Y Nutricion
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