Pub Date : 2024-12-03DOI: 10.1007/s12020-024-04122-6
Ivan Luiz Padilha Bonfante, Higor da Silva Segantim, Kauê Neto Soares Mendonça, Murilo Augusto Belmiro de Oliveira, Milena Monfort-Pires, Renata Garbellini Duft, Keryma Chaves da Silva Mateus, Mara Patricia Traina Chacon-Mikahil, Celso Darío Ramos, Licio Augusto Velloso, Cláudia Regina Cavaglieri
Purpose: Brown adipose tissue (BAT), located in the supraclavicular region, has been associated with a better cardiometabolic profile and reduced risk of developing non-communicable chronic diseases (NCD), in addition to being associated with a healthier phenotype in obesity. However, it is unknown whether greater supraclavicular adipose tissue activity could be associated with a healthier metabolic profile in people already diagnosed with type 2 diabetes (T2DM). Thus, the present work evaluated if supraclavicular adipose tissue activity is associated with metabolic and molecular markers in individuals with T2DM.
Methods: Based on a cluster study, individuals with T2DM were divided into groups according to high or low-standard uptake value (SUV) evaluated in the supraclavicular adipose tissue area by [18F]-fluorodeoxyglucose and positron emission tomography-computed tomography (18F-FDG-PET/CT) after mild cold exposure). Functional, biochemical, inflammatory, and molecular markers were measured.
Results: When we evaluated the whole sample, women showed higher SUV, which favored a difference between groups in sex-related markers. On the other hand, volunteers in the high-SUV group showed lower BMI, monocytes count, triglycerides/glucose index (TYG-index) and z score of metabolic syndrome (MS) values, as well as lower triglycerides, and VLDL concentrations. Moreover, they also had enhanced expression of thermogenic genes in subcutaneous fat. When analyzing only women, the differences in markers associated with sex disappear, and a lower count of leukocytes, platelets, along with lower TYG-index, z score of MS values, and triglycerides, VLDL, LDL, and TNFα concentrations were observed in women with the high SUV. In addition, higher expression of thermogenic genes and BECN1 were detected.
Conclusion: Higher supraclavicular adipose tissue SUV in individuals with T2DM is associated with a better cardiometabolic/inflammatory profile and expression of thermogenic genes.
目的:棕色脂肪组织(BAT)位于锁骨上区域,除了与更健康的肥胖表型相关外,还与更好的心脏代谢特征和降低患非传染性慢性疾病(NCD)的风险相关。然而,对于已经诊断为2型糖尿病(T2DM)的人来说,更高的锁骨上脂肪组织活性是否与更健康的代谢特征相关尚不清楚。因此,本研究评估了T2DM患者锁骨上脂肪组织活性是否与代谢和分子标志物相关。方法:在聚类研究的基础上,根据[18F]-氟脱氧葡萄糖和轻度冷暴露后的正电子发射断层扫描-计算机断层扫描(18F- fdg - pet /CT)在锁骨上脂肪组织区域评估的高或低标准摄取值(SUV)将T2DM患者分为两组。测量功能、生化、炎症和分子标志物。结果:当我们对整个样本进行评估时,女性表现出更高的SUV,这有利于性别相关标记在组间的差异。另一方面,高suv组的志愿者BMI、单核细胞计数、甘油三酯/葡萄糖指数(TYG-index)和代谢综合征(MS)值z评分较低,甘油三酯和VLDL浓度也较低。此外,它们还增强了皮下脂肪中产热基因的表达。当只分析女性时,与性别相关的标记物的差异消失,并且在高SUV的女性中观察到较低的白细胞计数、血小板、较低的tyg指数、MS值z评分、甘油三酯、VLDL、LDL和TNFα浓度。此外,产热基因和BECN1的表达也有所增加。结论:T2DM患者较高的锁骨上脂肪组织SUV与更好的心脏代谢/炎症谱和产热基因表达相关。临床试验注册:UTN: U1111-1202-1476 - 08/20/2020。
{"title":"Better cardiometabolic/inflammatory profile is associated with differences in the supraclavicular adipose tissue activity of individuals with T2DM.","authors":"Ivan Luiz Padilha Bonfante, Higor da Silva Segantim, Kauê Neto Soares Mendonça, Murilo Augusto Belmiro de Oliveira, Milena Monfort-Pires, Renata Garbellini Duft, Keryma Chaves da Silva Mateus, Mara Patricia Traina Chacon-Mikahil, Celso Darío Ramos, Licio Augusto Velloso, Cláudia Regina Cavaglieri","doi":"10.1007/s12020-024-04122-6","DOIUrl":"https://doi.org/10.1007/s12020-024-04122-6","url":null,"abstract":"<p><strong>Purpose: </strong>Brown adipose tissue (BAT), located in the supraclavicular region, has been associated with a better cardiometabolic profile and reduced risk of developing non-communicable chronic diseases (NCD), in addition to being associated with a healthier phenotype in obesity. However, it is unknown whether greater supraclavicular adipose tissue activity could be associated with a healthier metabolic profile in people already diagnosed with type 2 diabetes (T2DM). Thus, the present work evaluated if supraclavicular adipose tissue activity is associated with metabolic and molecular markers in individuals with T2DM.</p><p><strong>Methods: </strong>Based on a cluster study, individuals with T2DM were divided into groups according to high or low-standard uptake value (SUV) evaluated in the supraclavicular adipose tissue area by [18F]-fluorodeoxyglucose and positron emission tomography-computed tomography (<sup>18</sup>F-FDG-PET/CT) after mild cold exposure). Functional, biochemical, inflammatory, and molecular markers were measured.</p><p><strong>Results: </strong>When we evaluated the whole sample, women showed higher SUV, which favored a difference between groups in sex-related markers. On the other hand, volunteers in the high-SUV group showed lower BMI, monocytes count, triglycerides/glucose index (TYG-index) and z score of metabolic syndrome (MS) values, as well as lower triglycerides, and VLDL concentrations. Moreover, they also had enhanced expression of thermogenic genes in subcutaneous fat. When analyzing only women, the differences in markers associated with sex disappear, and a lower count of leukocytes, platelets, along with lower TYG-index, z score of MS values, and triglycerides, VLDL, LDL, and TNFα concentrations were observed in women with the high SUV. In addition, higher expression of thermogenic genes and BECN1 were detected.</p><p><strong>Conclusion: </strong>Higher supraclavicular adipose tissue SUV in individuals with T2DM is associated with a better cardiometabolic/inflammatory profile and expression of thermogenic genes.</p><p><strong>Clinical trial registration: </strong>UTN: U1111-1202-1476 - 08/20/2020.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-02DOI: 10.1007/s12020-024-04121-7
Irmak Gunesli, Seren Aksun, Jana Fathelbab, Bulent Okan Yildiz
Context: Artificial intelligence (AI) is increasingly utilized in healthcare, with models like ChatGPT and Google Gemini gaining global popularity. Polycystic ovary syndrome (PCOS) is a prevalent condition that requires both lifestyle modifications and medical treatment, highlighting the critical need for effective patient education. This study compares the responses of ChatGPT-4, ChatGPT-3.5 and Gemini to PCOS-related questions using the latest guideline. Evaluating AI's integration into patient education necessitates assessing response quality, reliability, readability and effectiveness in managing PCOS.
Purpose: To evaluate the accuracy, quality, readability and tendency to hallucinate of ChatGPT-4, ChatGPT-3.5 and Gemini's responses to questions about PCOS, its assessment and management based on recommendations from the current international PCOS guideline.
Methods: This cross-sectional study assessed ChatGPT-4, ChatGPT-3.5, and Gemini's responses to PCOS-related questions created by endocrinologists using the latest guidelines and common patient queries. Experts evaluated the responses for accuracy, quality and tendency to hallucinate using Likert scales, while readability was analyzed using standard formulas.
Results: ChatGPT-4 and ChatGPT-3.5 attained higher scores in accuracy and quality compared to Gemini (p = 0.001, p < 0.001 and p = 0.007, p < 0.001 respectively). However, Gemini obtained a higher readability score compared to the other chatbots (p < 0.001). There was a significant difference between the tendency to hallucinate scores, which were due to the lower scores in Gemini (p = 0.003).
Conclusion: The high accuracy and quality of responses provided by ChatGPT-4 and 3.5 to questions about PCOS suggest that they could be supportive in clinical practice. Future technological advancements may facilitate the use of artificial intelligence in both educating patients with PCOS and supporting the management of the disorder.
{"title":"Comparative evaluation of ChatGPT-4, ChatGPT-3.5 and Google Gemini on PCOS assessment and management based on recommendations from the 2023 guideline.","authors":"Irmak Gunesli, Seren Aksun, Jana Fathelbab, Bulent Okan Yildiz","doi":"10.1007/s12020-024-04121-7","DOIUrl":"https://doi.org/10.1007/s12020-024-04121-7","url":null,"abstract":"<p><strong>Context: </strong>Artificial intelligence (AI) is increasingly utilized in healthcare, with models like ChatGPT and Google Gemini gaining global popularity. Polycystic ovary syndrome (PCOS) is a prevalent condition that requires both lifestyle modifications and medical treatment, highlighting the critical need for effective patient education. This study compares the responses of ChatGPT-4, ChatGPT-3.5 and Gemini to PCOS-related questions using the latest guideline. Evaluating AI's integration into patient education necessitates assessing response quality, reliability, readability and effectiveness in managing PCOS.</p><p><strong>Purpose: </strong>To evaluate the accuracy, quality, readability and tendency to hallucinate of ChatGPT-4, ChatGPT-3.5 and Gemini's responses to questions about PCOS, its assessment and management based on recommendations from the current international PCOS guideline.</p><p><strong>Methods: </strong>This cross-sectional study assessed ChatGPT-4, ChatGPT-3.5, and Gemini's responses to PCOS-related questions created by endocrinologists using the latest guidelines and common patient queries. Experts evaluated the responses for accuracy, quality and tendency to hallucinate using Likert scales, while readability was analyzed using standard formulas.</p><p><strong>Results: </strong>ChatGPT-4 and ChatGPT-3.5 attained higher scores in accuracy and quality compared to Gemini (p = 0.001, p < 0.001 and p = 0.007, p < 0.001 respectively). However, Gemini obtained a higher readability score compared to the other chatbots (p < 0.001). There was a significant difference between the tendency to hallucinate scores, which were due to the lower scores in Gemini (p = 0.003).</p><p><strong>Conclusion: </strong>The high accuracy and quality of responses provided by ChatGPT-4 and 3.5 to questions about PCOS suggest that they could be supportive in clinical practice. Future technological advancements may facilitate the use of artificial intelligence in both educating patients with PCOS and supporting the management of the disorder.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142767140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-15DOI: 10.1007/s12020-024-03958-2
Bin Liu, Ying Peng, Yanjun Su, Chang Diao, Ruochuan Cheng
Objective: To explore individualized treatment and management methods for medullary thyroid microcarcinoma (MTMC).
Methods: Clinical data of patients with medullary thyroid carcinoma with a diameter ≤1 cm admitted to the First Affiliated Hospital of Kunming Medical University from June 2013 to June 20× were collected. Combined with different treatment guidelines for medullary thyroid carcinoma, factors affecting lymph node metastasis and postoperative disease status were analyzed.
Results: Twenty-nine patients with MTMC were included in the analysis, including 24 patients who underwent total thyroidectomy, 5 who underwent thyroid gland lobectomy, and 13 who experienced postoperative lymph node metastasis. Multifocal tumor and calcitonin (Ctn) were the influencing factors, while multifocal tumor, Ctn, lymph node metastasis, and AJCC stage affected the dynamic risk stratification of postoperative disease.
Conclusion: Calcitonin detection is an important method for detecting MTMC. A tumor diameter ≤1 cm does not indicate that the tumor is in the early stage. The presence of multifocal tumors and Ctn should be used as important indicators for preoperative evaluation. Dynamic stratified risk assessment is critical in postoperative follow-up.
目的:探讨甲状腺髓样微癌(MTMC)的个体化治疗和管理方法:探讨甲状腺髓样微癌(MTMC)的个体化治疗和管理方法:收集昆明医科大学第一附属医院2013年6月至20×年6月收治的直径≤1 cm甲状腺髓样癌患者的临床资料。结合甲状腺髓样癌的不同治疗指南,分析影响淋巴结转移的因素及术后疾病状态:结果:29例甲状腺髓样癌患者纳入分析,其中24例接受甲状腺全切除术,5例接受甲状腺腺叶切除术,13例术后出现淋巴结转移。多灶性肿瘤和降钙素(Ctn)是影响因素,而多灶性肿瘤、Ctn、淋巴结转移和AJCC分期则影响术后疾病的动态风险分层:结论:降钙素检测是发现MTMC的重要方法。结论:降钙素原检测是发现 MTMC 的重要方法,肿瘤直径≤1 cm 并不表示肿瘤处于早期。多灶性肿瘤和降钙素的存在应作为术前评估的重要指标。动态分层风险评估对术后随访至关重要。
{"title":"Treatment and management of medullary thyroid microcarcinoma: a 10-year retrospective study from a single center.","authors":"Bin Liu, Ying Peng, Yanjun Su, Chang Diao, Ruochuan Cheng","doi":"10.1007/s12020-024-03958-2","DOIUrl":"10.1007/s12020-024-03958-2","url":null,"abstract":"<p><strong>Objective: </strong>To explore individualized treatment and management methods for medullary thyroid microcarcinoma (MTMC).</p><p><strong>Methods: </strong>Clinical data of patients with medullary thyroid carcinoma with a diameter ≤1 cm admitted to the First Affiliated Hospital of Kunming Medical University from June 2013 to June 20× were collected. Combined with different treatment guidelines for medullary thyroid carcinoma, factors affecting lymph node metastasis and postoperative disease status were analyzed.</p><p><strong>Results: </strong>Twenty-nine patients with MTMC were included in the analysis, including 24 patients who underwent total thyroidectomy, 5 who underwent thyroid gland lobectomy, and 13 who experienced postoperative lymph node metastasis. Multifocal tumor and calcitonin (Ctn) were the influencing factors, while multifocal tumor, Ctn, lymph node metastasis, and AJCC stage affected the dynamic risk stratification of postoperative disease.</p><p><strong>Conclusion: </strong>Calcitonin detection is an important method for detecting MTMC. A tumor diameter ≤1 cm does not indicate that the tumor is in the early stage. The presence of multifocal tumors and Ctn should be used as important indicators for preoperative evaluation. Dynamic stratified risk assessment is critical in postoperative follow-up.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1081-1089"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: To determine whether early repeat fine needle aspiration biopsy (FNA) has an effect on adequate or atypia of undetermined significance (AUS) cytology rates in thyroid nodules with inadequate or AUS result in the first FNA.
Methods: Nodules of patients who underwent repeat biopsy due to insufficient or AUS cytology between 2019-2022 were included. Data of the patients and ultrasonographic, cytological and histopathological results of the nodules were recorded. Additionally, the time between the two biopsies was noted. The first was called "initial" and the second was called "rebiopsy". Five different paired groups were formed according to the time between two consecutive biopsies; before and after 1 month, 45 days, 2 months, 3 months, and 6 months. The groups were compared in terms of adequate and AUS cytological results.
Results: We evaluated 1129 patients with 2187 nodules undergoing FNAB. After excluding nodules with one FNA result and/or missing data, 966 nodules of 628 patients who underwent FNA at least twice were included. Initial cytology was nondiagnostic (ND) in 665 (30.4%) and AUS in 301 (13.8%) nodules. The mean age of the patients was 52.0 ± 11.9 years, and the female sex ratio was 78.8% (n = 495). There were no differences in adequate or AUS rebiopsy results according to the different time interval groups (p > 0.05 for all). AUS result was statistically insignificantly more frequent in nodules with initially AUS nodules when rebiopsy was performed before 1 month in comparison to after 1 month (53.8%, 27.1%; p = 0.054). Accuracy of rebiopsy was also similar in the time intervals groups (p > 0.05 for all).
Conclusion: In patients with inadequate or AUS initial biopsy, the rate of adequate or AUS cytology results at rebiopsy did not vary with the timing of repeat biopsy indicating that there may be no need to wait 1 month for a repeat biopsy. In patients with suspicious nodules, biopsy might be repeated before 1 month.
目的:旨在确定早期重复细针穿刺活检(FNA)是否会影响首次FNA结果不足或AUS的甲状腺结节细胞学检查的充分率或意义未定的不典型性(AUS)率:方法:纳入2019-2022年间因细胞学检查结果不足或AUS而接受重复活检的甲状腺结节患者。记录患者数据以及结节的超声、细胞学和组织病理学结果。此外,还记录了两次活检之间的时间间隔。第一次活检称为 "初次活检",第二次活检称为 "再次活检"。根据两次连续活检之间的时间间隔形成了五个不同的配对组:1 个月前后、45 天、2 个月、3 个月和 6 个月。各组在充分性和 AUS 细胞学结果方面进行了比较:我们对 1129 名患者的 2187 个结节进行了 FNAB 评估。在排除了只有一次 FNA 结果和/或数据缺失的结节后,我们纳入了至少接受过两次 FNA 的 628 名患者的 966 个结节。665个结节(30.4%)的初始细胞学结果为非诊断性(ND),301个结节(13.8%)的初始细胞学结果为AUS。患者的平均年龄为(52.0 ± 11.9)岁,女性比例为 78.8%(495 人)。不同时间间隔组的足量或 AUS 重新活检结果无差异(均 p > 0.05)。与 1 个月后相比,在 1 个月前进行重新活检时,最初为 AUS 的结节中出现 AUS 结果的频率更高(53.8%,27.1%;P = 0.054),这在统计学上并不显著。各时间间隔组的重新活检准确率也相似(P均>0.05):结论:对于初次活检结果不充分或AUS的患者,再次活检时细胞学结果充分或AUS的比率并不随再次活检的时间而变化,这表明可能没有必要等待1个月再进行再次活检。对于有可疑结节的患者,可在 1 个月前再次进行活检。
{"title":"Timing of the repeat thyroid fine-needle aspiration biopsy: does early repeat biopsy change the rate of nondiagnostic or atypia of undetermined significance cytology result?","authors":"Fatma Dilek Dellal Kahramanca, Muhammet Sacikara, Aydan Kilicarslan, Berna Ogmen, Cevdet Aydin, Oya Topaloglu, Reyhan Ersoy, Bekir Cakir","doi":"10.1007/s12020-024-03953-7","DOIUrl":"10.1007/s12020-024-03953-7","url":null,"abstract":"<p><strong>Purpose: </strong>To determine whether early repeat fine needle aspiration biopsy (FNA) has an effect on adequate or atypia of undetermined significance (AUS) cytology rates in thyroid nodules with inadequate or AUS result in the first FNA.</p><p><strong>Methods: </strong>Nodules of patients who underwent repeat biopsy due to insufficient or AUS cytology between 2019-2022 were included. Data of the patients and ultrasonographic, cytological and histopathological results of the nodules were recorded. Additionally, the time between the two biopsies was noted. The first was called \"initial\" and the second was called \"rebiopsy\". Five different paired groups were formed according to the time between two consecutive biopsies; before and after 1 month, 45 days, 2 months, 3 months, and 6 months. The groups were compared in terms of adequate and AUS cytological results.</p><p><strong>Results: </strong>We evaluated 1129 patients with 2187 nodules undergoing FNAB. After excluding nodules with one FNA result and/or missing data, 966 nodules of 628 patients who underwent FNA at least twice were included. Initial cytology was nondiagnostic (ND) in 665 (30.4%) and AUS in 301 (13.8%) nodules. The mean age of the patients was 52.0 ± 11.9 years, and the female sex ratio was 78.8% (n = 495). There were no differences in adequate or AUS rebiopsy results according to the different time interval groups (p > 0.05 for all). AUS result was statistically insignificantly more frequent in nodules with initially AUS nodules when rebiopsy was performed before 1 month in comparison to after 1 month (53.8%, 27.1%; p = 0.054). Accuracy of rebiopsy was also similar in the time intervals groups (p > 0.05 for all).</p><p><strong>Conclusion: </strong>In patients with inadequate or AUS initial biopsy, the rate of adequate or AUS cytology results at rebiopsy did not vary with the timing of repeat biopsy indicating that there may be no need to wait 1 month for a repeat biopsy. In patients with suspicious nodules, biopsy might be repeated before 1 month.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1065-1072"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: To quantitatively assess the performance of ChatGPTv4, an Artificial Intelligence Language Model, in adhering to clinical guidelines for Diminished Ovarian Reserve (DOR) over two months, evaluating the model's consistency in providing guideline-based responses.
Design: A longitudinal study design was employed to evaluate ChatGPTv4's response accuracy and completeness using a structured questionnaire at baseline and at a two-month follow-up.
Setting: ChatGPTv4 was tasked with interpreting DOR questionnaires based on standardized clinical guidelines.
Participants: The study did not involve human participants; the questionnaire was exclusively administered to the ChatGPT model to generate responses about DOR.
Methods: A guideline-based questionnaire with 176 open-ended, 166 multiple-choice, and 153 true/false questions were deployed to rigorously assess ChatGPTv4's ability to provide accurate medical advice aligned with current DOR clinical guidelines. AI-generated responses were rated on a 6-point Likert scale for accuracy and a 3-point scale for completeness. The two-phase design assessed the stability and consistency of AI-generated answers over two months.
Results: ChatGPTv4 achieved near-perfect scores across all question types, with true/false questions consistently answered with 100% accuracy. In multiple-choice queries, accuracy improved from 98.2 to 100% at the two-month follow-up. Open-ended question responses exhibited significant positive enhancements, with accuracy scores increasing from an average of 5.38 ± 0.71 to 5.74 ± 0.51 (max: 6.0) and completeness scores from 2.57 ± 0.52 to 2.85 ± 0.36 (max: 3.0). It underscored the improvements as significant (p < 0.001), with positive correlations between initial and follow-up accuracy (r = 0.597) and completeness (r = 0.381) scores.
Limitations: The study was limited by the reliance on a controlled, albeit simulated, setting that may not perfectly mirror real-world clinical interactions.
Conclusion: ChatGPTv4 demonstrated exceptional and improving accuracy and completeness in handling DOR-related guideline queries over the studied period. These findings highlight ChatGPTv4's potential as a reliable, adaptable AI tool in reproductive endocrinology, capable of augmenting clinical decision-making and guideline development.
{"title":"Artificial intelligence in reproductive endocrinology: an in-depth longitudinal analysis of ChatGPTv4's month-by-month interpretation and adherence to clinical guidelines for diminished ovarian reserve.","authors":"Tugba Gurbuz, Oya Gokmen, Belgin Devranoglu, Arzu Yurci, Asena Ayar Madenli","doi":"10.1007/s12020-024-04031-8","DOIUrl":"10.1007/s12020-024-04031-8","url":null,"abstract":"<p><strong>Objective: </strong>To quantitatively assess the performance of ChatGPTv4, an Artificial Intelligence Language Model, in adhering to clinical guidelines for Diminished Ovarian Reserve (DOR) over two months, evaluating the model's consistency in providing guideline-based responses.</p><p><strong>Design: </strong>A longitudinal study design was employed to evaluate ChatGPTv4's response accuracy and completeness using a structured questionnaire at baseline and at a two-month follow-up.</p><p><strong>Setting: </strong>ChatGPTv4 was tasked with interpreting DOR questionnaires based on standardized clinical guidelines.</p><p><strong>Participants: </strong>The study did not involve human participants; the questionnaire was exclusively administered to the ChatGPT model to generate responses about DOR.</p><p><strong>Methods: </strong>A guideline-based questionnaire with 176 open-ended, 166 multiple-choice, and 153 true/false questions were deployed to rigorously assess ChatGPTv4's ability to provide accurate medical advice aligned with current DOR clinical guidelines. AI-generated responses were rated on a 6-point Likert scale for accuracy and a 3-point scale for completeness. The two-phase design assessed the stability and consistency of AI-generated answers over two months.</p><p><strong>Results: </strong>ChatGPTv4 achieved near-perfect scores across all question types, with true/false questions consistently answered with 100% accuracy. In multiple-choice queries, accuracy improved from 98.2 to 100% at the two-month follow-up. Open-ended question responses exhibited significant positive enhancements, with accuracy scores increasing from an average of 5.38 ± 0.71 to 5.74 ± 0.51 (max: 6.0) and completeness scores from 2.57 ± 0.52 to 2.85 ± 0.36 (max: 3.0). It underscored the improvements as significant (p < 0.001), with positive correlations between initial and follow-up accuracy (r = 0.597) and completeness (r = 0.381) scores.</p><p><strong>Limitations: </strong>The study was limited by the reliance on a controlled, albeit simulated, setting that may not perfectly mirror real-world clinical interactions.</p><p><strong>Conclusion: </strong>ChatGPTv4 demonstrated exceptional and improving accuracy and completeness in handling DOR-related guideline queries over the studied period. These findings highlight ChatGPTv4's potential as a reliable, adaptable AI tool in reproductive endocrinology, capable of augmenting clinical decision-making and guideline development.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1171-1177"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-30DOI: 10.1007/s12020-024-03961-7
G C Penna, K M A B Rajão, D C Santana, P H Costa, P H Carvalho, G A Gomes, G A Avelar, A L F Chaves, F Pitoia
Purpose: This article aims to comprehensively analyze the unique challenges in managing patients with metastatic Differentiated Thyroid Cancer (DTC) that develop radioiodine-refractory disease, especially in developing countries in Latin America. We discuss key contentious aspects of their treatment, such as the optimal timing for initiating systemic therapy, the choice of first-line medications, the appropriate timing for requesting molecular interrogation, and the challenges associated with accessing these drugs and molecular panels.
Methods: To illustrate these challenges and enhance understanding, we present five real clinical cases from the authors' experiences.
Results: Patients with Differentiated Thyroid Cancer (DTC) generally have an excellent prognosis, with an overall 10-year survival rate exceeding 97%. However, approximately 5% of DTC patients, especially those with distant metastases, may develop radioiodine-refractory disease, reducing survival rates. Access to medications remains difficult and time-consuming, particularly for patients within the public healthcare system. Urgent discussions on drug pricing involving all stakeholders are imperative. To break free from complacency, stakeholders must prioritize patient well-being by advocating for evidence-based drug pricing, increased participation in clinical trials, and streamlined regulatory processes.
Conclusion: Beyond the recognized need for prospective randomized clinical trials to determine the optimal first-line drug and the timing of molecular testing, this type of manuscript plays a pivotal role in stimulating discussions and disseminating comprehensive knowledge about the challenges associated with treating and monitoring patients with radioiodine-refractory thyroid carcinoma, especially in developing countries.
{"title":"Challenges in treating radioiodine-refractory thyroid cancer: a global perspective with a focus on developing nations in Latin America.","authors":"G C Penna, K M A B Rajão, D C Santana, P H Costa, P H Carvalho, G A Gomes, G A Avelar, A L F Chaves, F Pitoia","doi":"10.1007/s12020-024-03961-7","DOIUrl":"10.1007/s12020-024-03961-7","url":null,"abstract":"<p><strong>Purpose: </strong>This article aims to comprehensively analyze the unique challenges in managing patients with metastatic Differentiated Thyroid Cancer (DTC) that develop radioiodine-refractory disease, especially in developing countries in Latin America. We discuss key contentious aspects of their treatment, such as the optimal timing for initiating systemic therapy, the choice of first-line medications, the appropriate timing for requesting molecular interrogation, and the challenges associated with accessing these drugs and molecular panels.</p><p><strong>Methods: </strong>To illustrate these challenges and enhance understanding, we present five real clinical cases from the authors' experiences.</p><p><strong>Results: </strong>Patients with Differentiated Thyroid Cancer (DTC) generally have an excellent prognosis, with an overall 10-year survival rate exceeding 97%. However, approximately 5% of DTC patients, especially those with distant metastases, may develop radioiodine-refractory disease, reducing survival rates. Access to medications remains difficult and time-consuming, particularly for patients within the public healthcare system. Urgent discussions on drug pricing involving all stakeholders are imperative. To break free from complacency, stakeholders must prioritize patient well-being by advocating for evidence-based drug pricing, increased participation in clinical trials, and streamlined regulatory processes.</p><p><strong>Conclusion: </strong>Beyond the recognized need for prospective randomized clinical trials to determine the optimal first-line drug and the timing of molecular testing, this type of manuscript plays a pivotal role in stimulating discussions and disseminating comprehensive knowledge about the challenges associated with treating and monitoring patients with radioiodine-refractory thyroid carcinoma, especially in developing countries.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"890-902"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-12DOI: 10.1007/s12020-024-03948-4
Yuancheng Zhao, Ke Liu, Yutong Zou, Yucheng Wu, Jia Yang, Xiang Xiao, Xuegui Ju, Qin Yang, Yanlin Lang, Fang Liu
Aim: Diabetic nephropathy (DN) is the most common cause of end-stage kidney disease (ESKD). Remnant cholesterol has been investigated as a predictor for the progression of DN in type 1 diabetes mellitus patients, as well as the incidence of DN in type 2 diabetes mellitus (T2DM) patients. This study aimed to evaluate the longitudinal relationship between baseline remnant cholesterol and kidney outcomes using a Chinese T2DM with biopsy-confirmed DN cohort.
Methods: We included 334 patients with T2DM and biopsy-confirmed DN during 2010-2019 West China Hospital T2DM-DN cohort. Remnant cholesterol was defined by Martin-Hopkins equation. Patients were divided into four groups based on the median (IQR) remnant cholesterol concentration at the time of renal biopsy. The kidney outcome was defined as ESKD, which was defined as the need for chronic kidney replacement therapy or estimated glomerular filtration rate (eGFR) < 15 mL/min/1.73 m2. The relationship between remnant cholesterol and kidney outcome was analyzed using the Kaplan‒Meier method and Cox regression analysis.
Results: The mean age was 51.1 years, and 235 (70%) were men. During follow-up, a total of 121 (36.2%) patients reached ESKD. The Kaplan‒Meier analysis showed that patients in the highest quartile (quartile 4) group had lower cumulative renal survival (log-rank test, p = 0.033) and shorter median renal survival time [34.0 (26.4-41.6) vs. 55.0 (29.8-80.2) months] than patients in the lowest quartile (quartile 1) group. By univariate analysis, the high remnant cholesterol group was associated with a higher risk of progression to ESKD. Moreover, the risk of progression to ESKD in the highest quartile was still 2.857-fold (95% CI 1.305-6.257, p = 0.009) higher than that in the lowest quartile, and one-SD increase of remnant cholesterol was associated with a higher risk (HR = 1.424; 95% CI 1.075-1.886, p = 0.014) of progression to ESKD, after adjusted for confounding factors.
Conclusions: High remnant cholesterol is independently associated with a higher risk of ESKD in patients with T2DM-DN, and it may be a new noninvasive marker of ESKD.
Clinical relevance: Calculated remnant cholesterol has the advantages of being economical and clinically accessible. Moreover, to our knowledge, there are no longitudinal cohort studies for investigating the risk of progression of T2DM-DN to ESKD. In our study, higher remnant cholesterol was associated with a higher risk of ESKD in patients with T2DM-DN, and it may be a new noninvasive predictor of ESKD.
{"title":"Remnant cholesterol and the risk of diabetic nephropathy progression to end-stage kidney disease in patients with type 2 diabetes mellitus: a longitudinal cohort study.","authors":"Yuancheng Zhao, Ke Liu, Yutong Zou, Yucheng Wu, Jia Yang, Xiang Xiao, Xuegui Ju, Qin Yang, Yanlin Lang, Fang Liu","doi":"10.1007/s12020-024-03948-4","DOIUrl":"10.1007/s12020-024-03948-4","url":null,"abstract":"<p><strong>Aim: </strong>Diabetic nephropathy (DN) is the most common cause of end-stage kidney disease (ESKD). Remnant cholesterol has been investigated as a predictor for the progression of DN in type 1 diabetes mellitus patients, as well as the incidence of DN in type 2 diabetes mellitus (T2DM) patients. This study aimed to evaluate the longitudinal relationship between baseline remnant cholesterol and kidney outcomes using a Chinese T2DM with biopsy-confirmed DN cohort.</p><p><strong>Methods: </strong>We included 334 patients with T2DM and biopsy-confirmed DN during 2010-2019 West China Hospital T2DM-DN cohort. Remnant cholesterol was defined by Martin-Hopkins equation. Patients were divided into four groups based on the median (IQR) remnant cholesterol concentration at the time of renal biopsy. The kidney outcome was defined as ESKD, which was defined as the need for chronic kidney replacement therapy or estimated glomerular filtration rate (eGFR) < 15 mL/min/1.73 m<sup>2</sup>. The relationship between remnant cholesterol and kidney outcome was analyzed using the Kaplan‒Meier method and Cox regression analysis.</p><p><strong>Results: </strong>The mean age was 51.1 years, and 235 (70%) were men. During follow-up, a total of 121 (36.2%) patients reached ESKD. The Kaplan‒Meier analysis showed that patients in the highest quartile (quartile 4) group had lower cumulative renal survival (log-rank test, p = 0.033) and shorter median renal survival time [34.0 (26.4-41.6) vs. 55.0 (29.8-80.2) months] than patients in the lowest quartile (quartile 1) group. By univariate analysis, the high remnant cholesterol group was associated with a higher risk of progression to ESKD. Moreover, the risk of progression to ESKD in the highest quartile was still 2.857-fold (95% CI 1.305-6.257, p = 0.009) higher than that in the lowest quartile, and one-SD increase of remnant cholesterol was associated with a higher risk (HR = 1.424; 95% CI 1.075-1.886, p = 0.014) of progression to ESKD, after adjusted for confounding factors.</p><p><strong>Conclusions: </strong>High remnant cholesterol is independently associated with a higher risk of ESKD in patients with T2DM-DN, and it may be a new noninvasive marker of ESKD.</p><p><strong>Clinical relevance: </strong>Calculated remnant cholesterol has the advantages of being economical and clinically accessible. Moreover, to our knowledge, there are no longitudinal cohort studies for investigating the risk of progression of T2DM-DN to ESKD. In our study, higher remnant cholesterol was associated with a higher risk of ESKD in patients with T2DM-DN, and it may be a new noninvasive predictor of ESKD.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"994-1002"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554765/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-06DOI: 10.1007/s12020-024-03944-8
Fabio Antonio Gonzalez-Sanchez, Triana Mayra Sanchez-Huerta, Alexandra Huerta-Gonzalez, Maricruz Sepulveda-Villegas, Julio Altamirano, Juan Pablo Aguilar-Aleman, Rebeca Garcia-Varela
Diabetes is one of the major diseases and concerns of public health systems that affects over 200 million patients worldwide. It is estimated that 90% of these patients suffer from diabetes type 2, while 10% present diabetes type 1. This type of diabetes and certain types of diabetes type 2, are characterized by dysregulation of blood glycemic levels due to the total or partial depletion of insulin-secreting pancreatic β-cells. Different approaches have been proposed for long-term treatment of insulin-dependent patients; amongst them, cell-based approaches have been the subject of basic and clinical research since they allow blood glucose level sensing and in situ insulin secretion. The current gold standard for insulin-dependent patients is on-demand exogenous insulin application; cell-based therapies aim to remove this burden from the patient and caregivers. In recent years, protocols to isolate and implant pancreatic islets from diseased donors have been developed and tested in clinical trials. Nevertheless, the shortage of donors, along with the need of immunosuppressive companion therapies, have pushed researchers to focus their attention and efforts to overcome these disadvantages and develop alternative strategies. This review discusses current tested clinical approaches and future potential alternatives for diabetes type 1, and some diabetes type 2, insulin-dependent patients. Additionally, advantages and disadvantages of these discussed methods.
{"title":"Diabetes current and future translatable therapies.","authors":"Fabio Antonio Gonzalez-Sanchez, Triana Mayra Sanchez-Huerta, Alexandra Huerta-Gonzalez, Maricruz Sepulveda-Villegas, Julio Altamirano, Juan Pablo Aguilar-Aleman, Rebeca Garcia-Varela","doi":"10.1007/s12020-024-03944-8","DOIUrl":"10.1007/s12020-024-03944-8","url":null,"abstract":"<p><p>Diabetes is one of the major diseases and concerns of public health systems that affects over 200 million patients worldwide. It is estimated that 90% of these patients suffer from diabetes type 2, while 10% present diabetes type 1. This type of diabetes and certain types of diabetes type 2, are characterized by dysregulation of blood glycemic levels due to the total or partial depletion of insulin-secreting pancreatic β-cells. Different approaches have been proposed for long-term treatment of insulin-dependent patients; amongst them, cell-based approaches have been the subject of basic and clinical research since they allow blood glucose level sensing and in situ insulin secretion. The current gold standard for insulin-dependent patients is on-demand exogenous insulin application; cell-based therapies aim to remove this burden from the patient and caregivers. In recent years, protocols to isolate and implant pancreatic islets from diseased donors have been developed and tested in clinical trials. Nevertheless, the shortage of donors, along with the need of immunosuppressive companion therapies, have pushed researchers to focus their attention and efforts to overcome these disadvantages and develop alternative strategies. This review discusses current tested clinical approaches and future potential alternatives for diabetes type 1, and some diabetes type 2, insulin-dependent patients. Additionally, advantages and disadvantages of these discussed methods.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"865-881"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141544642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-07-17DOI: 10.1007/s12020-024-03965-3
Maria Consiglia Trotta, Daniela Esposito, Raffaela Carotenuto, Rosa di Fraia, Lucia Digitale Selvaggio, Francesca Allosso, Marina Russo, Giacomo Accardo, Roberto Alfano, Michele D'Amico, Daniela Pasquali
Purpose: Hashimoto's thyroiditis (HT) is one of the most common causes of thyroid dysfunction in iodine sufficient worldwide areas, but its molecular mechanisms are not completely understood. To this regard, this study aimed to assess serum levels of miRNA-29a (miR-29a) and transforming growth factor beta 1 (TGFβ1) in HT patients with different patterns of thyroid function.
Methods: A total of 29 HT patients, with a median age of 52 years (21-68) were included. Of these, 13 had normal thyroid function (Eu-HT); 8 had non-treated hypothyroidism (Hypo-HT); 8 had hypothyroidism on replacement therapy with LT4 (subst-HT). All patients had serum miR-29a assayed through qRT-PCR and serum TGFβ1 assayed by ELISA.
Results: Serum miR-29a levels were significantly down-regulated in patients with Hypo-HT compared to Eu-HT patients (P < 0.01) and subst-HT patients (P < 0.05). A significant negative correlation was detected between serum miR-29a levels and TSH levels (r = -0.60, P < 0.01). Serum TGFβ1 levels were significantly higher in Hypo-HT than both Eu-HT (P < 0.01) and subst-HT patients (P < 0.05). A negative correlation was observed between serum miR-29a and TGFβ1 (r = -0.75, P < 0.01).
Conclusions: In conclusion, Hypo-HT patients had lower levels of serum miR-29a and higher levels of TGFβ1 in comparison with Eu-HT patients. Worthy of note, subst-HT patients showed restored serum miR-29a levels compared with Hypo-HT group, associated with lower serum TGFβ1. These novel findings may suggest a possible impact of replacement therapy with levothyroxine on serum miR-29a levels in HT.
{"title":"Thyroid dysfunction in Hashimoto's thyroiditis: a pilot study on the putative role of miR-29a and TGFβ1.","authors":"Maria Consiglia Trotta, Daniela Esposito, Raffaela Carotenuto, Rosa di Fraia, Lucia Digitale Selvaggio, Francesca Allosso, Marina Russo, Giacomo Accardo, Roberto Alfano, Michele D'Amico, Daniela Pasquali","doi":"10.1007/s12020-024-03965-3","DOIUrl":"10.1007/s12020-024-03965-3","url":null,"abstract":"<p><strong>Purpose: </strong>Hashimoto's thyroiditis (HT) is one of the most common causes of thyroid dysfunction in iodine sufficient worldwide areas, but its molecular mechanisms are not completely understood. To this regard, this study aimed to assess serum levels of miRNA-29a (miR-29a) and transforming growth factor beta 1 (TGFβ1) in HT patients with different patterns of thyroid function.</p><p><strong>Methods: </strong>A total of 29 HT patients, with a median age of 52 years (21-68) were included. Of these, 13 had normal thyroid function (Eu-HT); 8 had non-treated hypothyroidism (Hypo-HT); 8 had hypothyroidism on replacement therapy with LT4 (subst-HT). All patients had serum miR-29a assayed through qRT-PCR and serum TGFβ1 assayed by ELISA.</p><p><strong>Results: </strong>Serum miR-29a levels were significantly down-regulated in patients with Hypo-HT compared to Eu-HT patients (P < 0.01) and subst-HT patients (P < 0.05). A significant negative correlation was detected between serum miR-29a levels and TSH levels (r = -0.60, P < 0.01). Serum TGFβ1 levels were significantly higher in Hypo-HT than both Eu-HT (P < 0.01) and subst-HT patients (P < 0.05). A negative correlation was observed between serum miR-29a and TGFβ1 (r = -0.75, P < 0.01).</p><p><strong>Conclusions: </strong>In conclusion, Hypo-HT patients had lower levels of serum miR-29a and higher levels of TGFβ1 in comparison with Eu-HT patients. Worthy of note, subst-HT patients showed restored serum miR-29a levels compared with Hypo-HT group, associated with lower serum TGFβ1. These novel findings may suggest a possible impact of replacement therapy with levothyroxine on serum miR-29a levels in HT.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1090-1096"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: Our purpose was to investigate and test the causal relationship between type 1 diabetes (T1D) and inflammatory bowel disease (IBD) and its major phenotypes, including ulcerative colitis (UC) and Crohn's disease (CD), in two large datasets.
Methods: We obtained IBD samples from the largest publicly available genome-wide association study (GWAS), as well as the FinnGen database and the publicly accessible IEU GWAS database of T1D. We employed a two-sample Mendelian randomization approach to assess bidirectional causality using the inverse variance weighting (IVW) method as the primary outcome.
Results: Genetic predisposition to T1D was associated with reduced risk of IBD (IVW: odds ratio (OR), 0.867; 95% confidence interval (CI), [0.852, 0.883]; P < 0.001), UC (OR = 0.879 [0.823, 0.939], P < 0.001), and CD (OR = 0.925 [0.872, 0.981], P = 0.009). The republication results found IBD genetically possessed negative association with T1D (OR = 0.781 [0.684, 0.891], P < 0.001). Additionally, a meta-analysis of results was conducted to prove the strong evidence between T1D and CD (OR = 0.95 [0.91, 0.98]; p = 0.01).
Conclusions: This study first demonstrated a causal effect of TID on the reduced risk of CD in the mendelian randomization study.
目的:我们的目的是在两个大型数据集中调查和检验1型糖尿病(T1D)与炎症性肠病(IBD)及其主要表型(包括溃疡性结肠炎(UC)和克罗恩病(CD))之间的因果关系:我们从最大的公开全基因组关联研究(GWAS)、FinnGen 数据库和可公开访问的 IEU T1D GWAS 数据库中获得了 IBD 样本。我们采用双样本孟德尔随机化方法,以反向方差加权(IVW)法评估双向因果关系作为主要结果:结果:T1D 的遗传易感性与 IBD 风险的降低相关(IVW:比值比 (OR),0.867;95% 置信区间 (CI),[0.852, 0.883];P):该研究首次在 "泯灭随机研究 "中证明了 TID 对降低 CD 风险的因果效应。
{"title":"Mendelian randomization study of inflammatory bowel disease and type 1 diabetes.","authors":"Jing-Yi Zhu, Xinyi Ma, Mu-Yun Liu, Li-Zhe Ma, Xiao-Ru Sun, Mao-Yun Yan, Chunyu Xue, Chang Sun","doi":"10.1007/s12020-024-03919-9","DOIUrl":"10.1007/s12020-024-03919-9","url":null,"abstract":"<p><strong>Purpose: </strong>Our purpose was to investigate and test the causal relationship between type 1 diabetes (T1D) and inflammatory bowel disease (IBD) and its major phenotypes, including ulcerative colitis (UC) and Crohn's disease (CD), in two large datasets.</p><p><strong>Methods: </strong>We obtained IBD samples from the largest publicly available genome-wide association study (GWAS), as well as the FinnGen database and the publicly accessible IEU GWAS database of T1D. We employed a two-sample Mendelian randomization approach to assess bidirectional causality using the inverse variance weighting (IVW) method as the primary outcome.</p><p><strong>Results: </strong>Genetic predisposition to T1D was associated with reduced risk of IBD (IVW: odds ratio (OR), 0.867; 95% confidence interval (CI), [0.852, 0.883]; P < 0.001), UC (OR = 0.879 [0.823, 0.939], P < 0.001), and CD (OR = 0.925 [0.872, 0.981], P = 0.009). The republication results found IBD genetically possessed negative association with T1D (OR = 0.781 [0.684, 0.891], P < 0.001). Additionally, a meta-analysis of results was conducted to prove the strong evidence between T1D and CD (OR = 0.95 [0.91, 0.98]; p = 0.01).</p><p><strong>Conclusions: </strong>This study first demonstrated a causal effect of TID on the reduced risk of CD in the mendelian randomization study.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"943-953"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141855148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}