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Quality of life, diabetes-related stress and treatment satisfaction are correlated with glycemia risk index (GRI), time in range and hypoglycemia/hyperglycemia components in type 1 diabetes. 生活质量、糖尿病相关压力和治疗满意度与 1 型糖尿病患者的血糖风险指数 (GRI)、在血糖范围内的时间和低血糖/高血糖成分相关。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-24 DOI: 10.1007/s12020-024-03846-9
Gonzalo Díaz-Soto, Paloma Pérez-López, Pablo Férnandez-Velasco, Pilar Bahillo-Curieses, María de la O Nieto de la Marca, Rebeca Jimenez, Daniel de Luis

Introduction: To evaluate the relationship between the GRI -component of hypoglycemia (CHypo) and hyperglycemia (CHyper)- with diabetes quality of life (DQoL), diabetes-related stress (DDS), perception of hypoglycemia (Clarke Test), visual analogic scale (VAS) and diabetes-knowledge (DKQ2) in T1D.

Methods: Cross-sectional study in 92 patients with T1D under intensive insulin treatment (21.7% CSII) and flash glucose monitoring (isCGM). Clinical, metabolic and glycometric parameters and quality of life/satisfaction questionnaires were analyzed.

Results: 92 patients (54.3% male, BMI 25.4 ± 4.5 kg/m2, HbA1c 7.5 ± 1.0%, TIR 53.9 ± 15.9%) with mean age 36.1 ± 12.6years and 17.8 ± 11.3 T1D duration. The mean GRI was 60.6 ± 22.2 with a CHypo and CHyper of 5.9 ± 4.8 and 27.3 ± 14.4, respectively. 19.1% presented a pathological Clarke's test. Patients with TIR > 70% and GRI < 40 showed better VAS (8.8 ± 1.3 vs 9.3 ± 0.9, p < 0.05) and DDS (46.4 ± 22.1 vs 36.7 ± 16.6, p < 0.05) scores, showing no differences between groups. CHyper > 15 and Chypo > 3.4 were related to worse levels of DQoL (91.1 ± 23.9 vs 76.6 ± 18.6 and 94.6 ± 24.8 vs 79.8 ± 20.1, p < 0.01), DDS(49.8 ± 22.4 vs 35.7 ± 16.5 and 49.8 ± 22.4 vs 35.7 ± 16.5, p < 0.01),and DKQ2 (24.4 ± 4.3 vs 26.8 ± 5.2 and 24.1 ± 4.8 vs 26.0 ± 4.6, p < 0.05), respectively. Worse metabolic control defined by GRI correlated with worse scores in VAS (r = -0.209, p < 0.05), DQoL (r = 0.205, p < 0.05), and DDS (r = 0.205, p < 0.05). No difference was observed in knowledge´s scale. CHyper correlated with worse scores in VAS (r = -0.231, p < 0.05), DQoL (r = 0.422, p < 0.01), and DDS (r = 0.341, p < 0.01) and lower degree of knowledge DKQ2 (r = -0.231, p < 0.05). When analyzing DQoL as a dependent variable in a multiple lineal regression, only age (β = 0.747; p < 0.001) and CHyper (β = 0.717; p < 0.001) maintained statistical significance.

Conclusions: Higher GRI was related to worse quality of life, diabetes-related stress and satisfaction with treatment, analogous to the TIR results.CHyper an Chypo were related to a greater decline in quality of life, diabetes-related stress, and lower satisfaction with treatment.However, in a multiple linear regression, only CHyper maintained statistical significance.

简介评估 GRI(低血糖(CHypo)和高血糖(CHyper)部分)与 T1D 患者的糖尿病生活质量(DQoL)、糖尿病相关压力(DDS)、低血糖感知(克拉克测试)、视觉模拟量表(VAS)和糖尿病知识(DKQ2)之间的关系:对 92 名接受胰岛素强化治疗(21.7% CSII)和闪光血糖监测(isCGM)的 T1D 患者进行横断面研究。结果:92 名 T1D 患者(54.3% 为男性)接受了强化胰岛素治疗(21.7% 为 CSII)和闪光血糖监测(isCGM):92 名患者(54.3% 为男性,BMI 25.4 ± 4.5 kg/m2,HbA1c 7.5 ± 1.0%,TIR 53.9 ± 15.9%)的平均年龄为 36.1 ± 12.6 岁,T1D 病程为 17.8 ± 11.3 年。平均 GRI 为 60.6 ± 22.2,CHypo 和 CHyper 分别为 5.9 ± 4.8 和 27.3 ± 14.4。19.1%的患者进行了病理性克拉克氏试验。TIR > 70%、GRI 15 和 CHypo > 3.4 的患者 DQoL 水平较差(91.1 ± 23.9 vs 76.6 ± 18.6 和 94.6 ± 24.8 vs 79.8 ± 20.1,p 结论:GRI 越高,DQoL 水平越差:较高的 GRI 与较差的生活质量、糖尿病相关压力和治疗满意度有关,这与 TIR 的结果类似。
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引用次数: 0
Hypogonadism and nonalcoholic fatty liver disease. 性腺功能减退症和非酒精性脂肪肝。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-21 DOI: 10.1007/s12020-024-03878-1
Kasiani Papadimitriou, Athanasios C Mousiolis, Gesthimani Mintziori, Christina Tarenidou, Stergios A Polyzos, Dimitrios G Goulis

Nonalcoholic fatty liver disease (NAFLD), recently proposed to be renamed to metabolic dysfunction-associated steatotic liver disease (MASLD), is a major global public health concern, affecting approximately 25-30% of the adult population and possibly leading to cirrhosis, hepatocellular carcinoma, and liver transplantation. The liver is involved in the actions of sex steroids via their hepatic metabolism and production of the sex hormone-binding globulin (SHBG). Liver disease, including NAFLD, is associated with reproductive dysfunction in men and women, and the prevalence of NAFLD in patients with hypogonadism is considerable. A wide spectrum of possible pathophysiological mechanisms linking NAFLD and male/female hypogonadism has been investigated. As therapies targeting NAFLD may impact hypogonadism in men and women, and vice versa, treatments of the latter may affect NAFLD, and an insight into their pathophysiological pathways is imperative. This paper aims to elucidate the complex association between NAFLD and hypogonadism in men and women and discuss the therapeutic options and their impact on both conditions.

非酒精性脂肪肝(NAFLD)是全球关注的重大公共卫生问题,最近拟更名为代谢功能障碍相关性脂肪性肝病(MASLD),约有 25%-30% 的成年人患有该病,并可能导致肝硬化、肝细胞癌和肝移植。肝脏通过性激素的肝代谢和性激素结合球蛋白(SHBG)的产生参与性类固醇的作用。包括非酒精性脂肪肝在内的肝脏疾病与男性和女性的生殖功能障碍有关,而非酒精性脂肪肝在性腺功能减退症患者中的发病率相当高。人们对非酒精性脂肪肝与男性/女性性腺功能减退症之间可能存在的病理生理机制进行了广泛的研究。由于针对非酒精性脂肪肝的疗法可能会影响男性和女性的性腺功能减退症,反之亦然,对后者的治疗也可能会影响非酒精性脂肪肝,因此深入了解其病理生理学途径势在必行。本文旨在阐明非酒精性脂肪肝与男性和女性性腺功能减退之间的复杂联系,并讨论治疗方案及其对这两种疾病的影响。
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引用次数: 0
Comparison between surgical and non-surgical management of primary hyperparathyroidism during pregnancy: a systematic review. 妊娠期原发性甲状旁腺功能亢进症手术治疗与非手术治疗的比较:系统综述。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-06-25 DOI: 10.1007/s12020-024-03930-0
Shezifi Eli, Shlomo Gozlan Gal, Zaina Adnan

Purpose: The management of primary hyperparathyroidism (PHPT) during pregnancy may be surgical or conservative. This study compared adverse outcomes between surgical and non-surgical treatments. Additionally, the study investigated the correlation between serum calcium values and complication rates.

Methods: A systematic review of retrospective studies, case series, and case reports. Biochemical parameters, interventions, and outcomes of each pregnancy were recorded. The study population comprised two groups: the non-surgical and surgical groups. Adverse outcomes were categorized as maternal, obstetric, or neonatal.

Results: The surgical and non-surgical groups consisted of 163 and 185 patients, respectively. A positive correlation was observed between the mean maternal gestational calcium value and both maternal and obstetric complication. Neonatal complications were more prevalent in patients treated conservatively across all maternal calcium values (p < 0.001). No significant differences were observed in maternal outcomes and overall obstetric outcomes between the study groups, albeit a higher mean serum calcium value in the surgical group (12.3 mg/dL) compared with the non-surgical group (11.1 mg/dL).

Conclusions: Given the significantly lower neonatal adverse outcomes in the surgical group compared to the non-surgical group, along with non-inferior maternal and obstetric outcomes in the surgical group, the overall data of this study suggest that parathyroidectomy is favorable to non-surgical management even in cases of mild hypercalcemia.

目的:妊娠期原发性甲状旁腺功能亢进症(PHPT)的治疗可采用手术或保守疗法。本研究比较了手术治疗和非手术治疗的不良后果。此外,该研究还调查了血清钙值与并发症发生率之间的相关性:方法:对回顾性研究、系列病例和病例报告进行系统回顾。记录每次妊娠的生化参数、干预措施和结果。研究对象包括两组:非手术组和手术组。不良后果分为母体、产科和新生儿:手术组和非手术组分别有 163 名和 185 名患者。产妇妊娠钙平均值与产妇和产科并发症之间呈正相关。在所有母体钙值中,接受保守治疗的患者新生儿并发症发生率更高(p 结论:在所有母体钙值中,接受保守治疗的患者新生儿并发症发生率更高(p):与手术组相比,非手术组的新生儿不良预后明显较低,而手术组的孕产妇和产科预后也不差,因此本研究的总体数据表明,即使是轻度高钙血症病例,甲状旁腺切除术也比非手术治疗更有利。
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引用次数: 0
Association between the triglyceride-glucose index and thyroid disorders: a cross-sectional survey and Mendelian randomization analysis. 甘油三酯-葡萄糖指数与甲状腺疾病之间的关系:横断面调查和孟德尔随机分析。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-23 DOI: 10.1007/s12020-024-03858-5
Chenyu Zhang, Haoyu Wang, Yongze Li, Xichang Wang, Yutong Han, Xiaotong Gao, Yaxin Lai, Chuyuan Wang, Weiping Teng, Zhongyan Shan

Background: Metabolic diseases are associated with thyroid disorders. Insulin resistance is the common pathological basis of metabolic diseases. We explored the relationship between the triglyceride-glucose (TyG) index, a simple insulin-resistance marker, and thyroid disorders.

Methods: Eligible TIDE (Thyroid Diseases, Iodine Status and Diabetes Epidemiology) subjects (n = 47,710) were screened with inclusion/exclusion criteria. Thyroid disorder prevalence among different TyG index groups was stratified by sex. Logistic regression evaluated the correlation between the TyG index and thyroid disorders. Multiple linear regression evaluated the association between the TyG index and TSH. Additionally, two-sample Mendelian randomization (MR) using published genome-wide association study data evaluated causality in the association between the TyG index and TSH.

Results: Men and women with greater TyG indices had a significantly greater prevalence of thyroid disorders than individuals with the lowest quartile (Q1) of TyG index (p < 0.05). Following adjustment for confounding factors, we observed that a greater TyG index significantly increased the risk of subclinical hypothyroidism in men and women (men: Q2: odds ratio (OR) [95% confidence interval (CI)] = 1.22 [1.07-1.38], p = 0.002; Q3: OR [95% CI] = 1.28 [1.12-1.45], p < 0.001; Q4: OR [95% CI] = 1.29 [1.12-1.50], p = 0.001; women: Q2: OR [95% CI] = 1.25 [1.12-1.39], p < 0.001; Q3: OR [95% CI] = 1.47 [1.31-1.64], p < 0.001; Q4: OR [95% CI] = 1.61 [1.43-1.82], p < 0.001). Only among women was the highest TyG index quartile associated with hypothyroidism (OR [95% CI] = 1.70 [1.15-2.50], p = 0.007). Additionally, in men, the association exists only in the more than adequate iodine intake population. In women, the relationship between the TyG index and thyroid disorders disappears after menopause. Furthermore, the TyG index exhibited a linear positive correlation with TSH levels. The MR analysis results revealed a causal relationship between a genetically determined greater TyG index and increased TSH (inverse-variance weighting (IVW): OR [95% CI] = 1.14 [1.02-1.28], p = 0.020); however, this causal relationship disappeared after adjusting for BMI in multivariable MR (MVMR) analysis (MVMR-IVW: OR 1.03, 95% CI 0.87-1.22, p = 0.739).

Conclusions: A greater TyG index is associated with hypothyroidism and subclinical hypothyroidism and varies by sex and menopausal status. MR analysis demonstrated that the causal relationship between a genetically determined greater TyG index and elevated TSH levels is confounded or mediated by BMI.

背景:代谢性疾病与甲状腺疾病有关。胰岛素抵抗是代谢性疾病的共同病理基础。我们探讨了甘油三酯-葡萄糖(TyG)指数这一简单的胰岛素抵抗标志物与甲状腺疾病之间的关系:按照纳入/排除标准筛选了符合条件的 TIDE(甲状腺疾病、碘状态和糖尿病流行病学)受试者(n = 47,710 人)。按性别对不同 TyG 指数组的甲状腺疾病患病率进行分层。逻辑回归评估了 TyG 指数与甲状腺疾病之间的相关性。多元线性回归评估了TyG指数与促甲状腺激素之间的相关性。此外,利用已发表的全基因组关联研究数据进行的双样本孟德尔随机化(MR)评估了TyG指数与TSH之间的因果关系:结果:与TyG指数最低四分位数(Q1)的人相比,TyG指数越高的男性和女性甲状腺疾病患病率明显越高(p 结论:TyG指数越高的人甲状腺疾病患病率越高:TyG指数越高,甲状腺功能减退症和亚临床甲状腺功能减退症的发病率就越高,并且因性别和绝经状态而异。磁共振分析表明,遗传决定的较大 TyG 指数与 TSH 水平升高之间的因果关系受到 BMI 的干扰或介导。
{"title":"Association between the triglyceride-glucose index and thyroid disorders: a cross-sectional survey and Mendelian randomization analysis.","authors":"Chenyu Zhang, Haoyu Wang, Yongze Li, Xichang Wang, Yutong Han, Xiaotong Gao, Yaxin Lai, Chuyuan Wang, Weiping Teng, Zhongyan Shan","doi":"10.1007/s12020-024-03858-5","DOIUrl":"10.1007/s12020-024-03858-5","url":null,"abstract":"<p><strong>Background: </strong>Metabolic diseases are associated with thyroid disorders. Insulin resistance is the common pathological basis of metabolic diseases. We explored the relationship between the triglyceride-glucose (TyG) index, a simple insulin-resistance marker, and thyroid disorders.</p><p><strong>Methods: </strong>Eligible TIDE (Thyroid Diseases, Iodine Status and Diabetes Epidemiology) subjects (n = 47,710) were screened with inclusion/exclusion criteria. Thyroid disorder prevalence among different TyG index groups was stratified by sex. Logistic regression evaluated the correlation between the TyG index and thyroid disorders. Multiple linear regression evaluated the association between the TyG index and TSH. Additionally, two-sample Mendelian randomization (MR) using published genome-wide association study data evaluated causality in the association between the TyG index and TSH.</p><p><strong>Results: </strong>Men and women with greater TyG indices had a significantly greater prevalence of thyroid disorders than individuals with the lowest quartile (Q1) of TyG index (p < 0.05). Following adjustment for confounding factors, we observed that a greater TyG index significantly increased the risk of subclinical hypothyroidism in men and women (men: Q2: odds ratio (OR) [95% confidence interval (CI)] = 1.22 [1.07-1.38], p = 0.002; Q3: OR [95% CI] = 1.28 [1.12-1.45], p < 0.001; Q4: OR [95% CI] = 1.29 [1.12-1.50], p = 0.001; women: Q2: OR [95% CI] = 1.25 [1.12-1.39], p < 0.001; Q3: OR [95% CI] = 1.47 [1.31-1.64], p < 0.001; Q4: OR [95% CI] = 1.61 [1.43-1.82], p < 0.001). Only among women was the highest TyG index quartile associated with hypothyroidism (OR [95% CI] = 1.70 [1.15-2.50], p = 0.007). Additionally, in men, the association exists only in the more than adequate iodine intake population. In women, the relationship between the TyG index and thyroid disorders disappears after menopause. Furthermore, the TyG index exhibited a linear positive correlation with TSH levels. The MR analysis results revealed a causal relationship between a genetically determined greater TyG index and increased TSH (inverse-variance weighting (IVW): OR [95% CI] = 1.14 [1.02-1.28], p = 0.020); however, this causal relationship disappeared after adjusting for BMI in multivariable MR (MVMR) analysis (MVMR-IVW: OR 1.03, 95% CI 0.87-1.22, p = 0.739).</p><p><strong>Conclusions: </strong>A greater TyG index is associated with hypothyroidism and subclinical hypothyroidism and varies by sex and menopausal status. MR analysis demonstrated that the causal relationship between a genetically determined greater TyG index and elevated TSH levels is confounded or mediated by BMI.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141089215","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}
引用次数: 0
Effects of metformin on the glucose regulation, lipid levels and gut microbiota in high-fat diet with streptozotocin induced type 2 diabetes mellitus rats. 二甲双胍对链脲佐菌素诱导的高脂饮食 2 型糖尿病大鼠血糖调节、血脂水平和肠道微生物群的影响
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-23 DOI: 10.1007/s12020-024-03843-y
Xuan Zhou, Jian Zhou, Qingfeng Ban, Mei Zhang, Bo Ban

Objective: Metformin, an anti-diabetic drug, regulates blood glucose by affecting gut microbiotas. However, the potential mechanism underlying this effect remains unclear. This study aimed to evaluate the effect of metformin on glucose regulation, lipid levels, and the gut microbiota in rats with type 2 diabetes mellitus induced by a high-fat diet with streptozotocin.

Research design methods: Thirty Wistar rats was using in this experiment. T2DM rats were administered 300 mg/kg metformin for 8 weeks. The glucose regulation, lipid levels, organ coefficients, and gut microbiotawere measured by 16S rDNA.

Result: The metformin-gavaged rats exhibited significant improvements in blood glucose and serum lipid levels, accompanied by alterations in short-chain fatty acid levels and the intestinal microbiota (p < 0.05). In the diabetic rats, metformin potentially increased specific probiotics, thus improving the hypoglycaemic effects of the oral anti-diabetic drug. Further, damage to the liver and kidney was effectively alleviated in the metformin-gavaged rats.

Conclusion: This study's findings demonstrate that metformin exerts a positive anti-diabetic effect in HFD- and STZ-induced T2DM rats. These findings potentially provide a basis for the recommended use of metformin as a reliable oral drug for T2DM owing to its positive effect on the intestinal microbiota.

目的:二甲双胍是一种抗糖尿病药物,它通过影响肠道微生物来调节血糖:二甲双胍是一种抗糖尿病药物,它通过影响肠道微生物来调节血糖。然而,这种作用的潜在机制仍不清楚。本研究旨在评估二甲双胍对链脲佐菌素高脂饮食诱导的 2 型糖尿病大鼠血糖调节、血脂水平和肠道微生物群的影响:本实验使用了 30 只 Wistar 大鼠。给 T2DM 大鼠服用 300 毫克/千克二甲双胍,持续 8 周。通过 16S rDNA 对大鼠的血糖调节、血脂水平、器官系数和肠道微生物进行了测定:结果:服用二甲双胍的大鼠血糖和血清脂质水平有明显改善,同时短链脂肪酸水平和肠道微生物群也发生了变化(p 结论:二甲双胍对大鼠的血糖和血清脂质水平有明显改善,同时短链脂肪酸水平和肠道微生物群也发生了变化:本研究结果表明,二甲双胍对高密度脂蛋白和 STZ 诱导的 T2DM 大鼠具有积极的抗糖尿病作用。由于二甲双胍对肠道微生物群有积极影响,这些发现为推荐使用二甲双胍作为治疗 T2DM 的可靠口服药物提供了依据。
{"title":"Effects of metformin on the glucose regulation, lipid levels and gut microbiota in high-fat diet with streptozotocin induced type 2 diabetes mellitus rats.","authors":"Xuan Zhou, Jian Zhou, Qingfeng Ban, Mei Zhang, Bo Ban","doi":"10.1007/s12020-024-03843-y","DOIUrl":"10.1007/s12020-024-03843-y","url":null,"abstract":"<p><strong>Objective: </strong>Metformin, an anti-diabetic drug, regulates blood glucose by affecting gut microbiotas. However, the potential mechanism underlying this effect remains unclear. This study aimed to evaluate the effect of metformin on glucose regulation, lipid levels, and the gut microbiota in rats with type 2 diabetes mellitus induced by a high-fat diet with streptozotocin.</p><p><strong>Research design methods: </strong>Thirty Wistar rats was using in this experiment. T2DM rats were administered 300 mg/kg metformin for 8 weeks. The glucose regulation, lipid levels, organ coefficients, and gut microbiotawere measured by 16S rDNA.</p><p><strong>Result: </strong>The metformin-gavaged rats exhibited significant improvements in blood glucose and serum lipid levels, accompanied by alterations in short-chain fatty acid levels and the intestinal microbiota (p < 0.05). In the diabetic rats, metformin potentially increased specific probiotics, thus improving the hypoglycaemic effects of the oral anti-diabetic drug. Further, damage to the liver and kidney was effectively alleviated in the metformin-gavaged rats.</p><p><strong>Conclusion: </strong>This study's findings demonstrate that metformin exerts a positive anti-diabetic effect in HFD- and STZ-induced T2DM rats. These findings potentially provide a basis for the recommended use of metformin as a reliable oral drug for T2DM owing to its positive effect on the intestinal microbiota.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141089226","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}
引用次数: 0
Diagnostic dilemma in Cushing's syndrome: discrepancy between patient-reported and physician-assessed manifestations. 库欣综合征的诊断难题:患者报告与医生评估表现之间的差异。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-06-25 DOI: 10.1007/s12020-024-03935-9
Yuma Motomura, Shin Urai, Hironori Bando, Masaaki Yamamoto, Masaki Suzuki, Naoki Yamamoto, Genzo Iguchi, Wataru Ogawa, Hidenori Fukuoka

Purpose: Early diagnosis and immediate treatment of Cushing's syndrome (CS) are critical for a better prognosis but remain a challenge. However, few comprehensive reports have focused on this issue or investigated whether patient-reported manifestations are consistent with physician-assessed symptoms of CS. This study aimed to clarify the differences in patient-reported and physician-assessed manifestations of signs and symptoms of CS that prevent early diagnosis.

Methods: This single-center retrospective study included 52 patients with CS (16 with Cushing's disease and 36 with adrenal CS). Upon clinical diagnosis, medical records were used to independently review the patient-reported and physician-assessed manifestations of typical (such as purple striae and proximal myopathy) and nonspecific features (such as hirsutism and hypertension). The correlations and differences between the patient-reported and physician-assessed manifestations were then analyzed.

Results: We observed a positive correlation between the total number of manifestations of nonspecific features reported by patients and those assessed by physicians, but not for typical features. Moreover, manifestations reported by the patients were less frequent than those assessed by physicians for typical features, leading to discrepancies between the two groups. In contrast, there were no differences in most nonspecific features between the patient-reported and physician-assessed manifestations. Notably, the concordance between patient-reported and physician-assessed manifestations of typical features was not associated with urinary free cortisol levels.

Conclusion: Regardless of disease severity, patients often do not complain of the typical features of CS that are crucial for formulating a diagnosis.

目的:库欣综合征(CS)的早期诊断和及时治疗对改善预后至关重要,但仍是一项挑战。然而,很少有全面的报告关注这一问题或调查患者报告的症状表现与医生评估的症状表现是否一致。本研究旨在阐明患者报告的与医生评估的 CS 体征和症状表现之间的差异,这些差异阻碍了早期诊断:这项单中心回顾性研究纳入了 52 名 CS 患者(16 名库欣氏症患者和 36 名肾上腺 CS 患者)。临床诊断后,我们使用病历对患者报告和医生评估的典型表现(如紫纹和近端肌病)和非特异性特征(如多毛和高血压)进行了独立审查。然后分析了患者报告的表现和医生评估的表现之间的相关性和差异:结果:我们观察到,患者报告的非特异性特征表现总数与医生评估的表现总数呈正相关,但典型特征表现总数与医生评估的总数不呈正相关。此外,就典型特征而言,患者报告的表现少于医生评估的表现,这导致了两组之间的差异。相比之下,患者报告的表现与医生评估的表现在大多数非特异性特征方面没有差异。值得注意的是,患者报告的典型特征表现与医生评估的典型特征表现之间的一致性与尿游离皮质醇水平无关:结论:无论疾病的严重程度如何,患者通常不会主诉 CS 的典型特征,而这些特征对于诊断至关重要。
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引用次数: 0
Small RNA sequencing reveals snoRNAs and piRNA-019825 as novel players in diabetic kidney disease. 小 RNA 测序发现 snoRNA 和 piRNA-019825 是糖尿病肾病的新型参与者。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-27 DOI: 10.1007/s12020-024-03884-3
L M 't Hart, J A de Klerk, G A Bouland, J H D Peerlings, M T Blom, S J Cramer, R Bijkerk, J W J Beulens, R C Slieker

Introduction: Micro- and macrovascular complications are common among persons with type 2 diabetes. Recently there has been growing interest to investigate the potential of circulating small non-coding RNAs (sncRNAs) as contributors to the development of diabetic complications. In this study we investigate to what extent circulating sncRNAs levels associate with prevalent diabetic kidney disease (DKD) in persons with type 2 diabetes.

Methods: Plasma sncRNAs levels were determined using small RNA-seq, allowing detection of miRNAs, snoRNAs, piRNAs, tRNA fragments, and various other sncRNA classes. We tested for differentially expressed sncRNAs in persons with type 2 diabetes, with DKD (n = 69) or without DKD (n = 405). In secondary analyses, we also tested the association with eGFR, albuminuria (UACR), and the plasma proteome.

Results: In total seven sncRNAs were negatively associated with prevalent DKD (all PFDR ≤ 0.05). Including one microRNA (miR-143-5p), five snoRNAs (U8, SNORD118, SNORD24, SNORD107, SNORD87) and a piRNA (piR-019825 | DQ597218). Proteomic analyses showed that the seven sncRNAs, and especially the piRNA piR-019825, were associated with plasma levels of 24 proteins of which several have known associations with kidney function including TNF sR-I (TNFRFS1A), DAN (NBL1) and cystatin C (CST3).

Conclusion: We have identified novel small non-coding RNAs, primarily from classes other than microRNAs, that are associated with diabetic kidney disease. Our results show that the involvement of small non-coding RNAs in DKD goes beyond the already known microRNAs and also involves other classes of sncRNA, in particular snoRNAs and the piRNA piR-019825, that have never been studied before in relation to kidney function.

导言:微血管和大血管并发症在 2 型糖尿病患者中很常见。最近,人们对循环小非编码 RNA(sncRNA)作为糖尿病并发症的潜在诱因的研究兴趣日益浓厚。在这项研究中,我们调查了循环 sncRNAs 水平与 2 型糖尿病患者糖尿病肾病(DKD)发病率的关联程度:血浆中的 sncRNAs 水平是通过小 RNA-seq 来确定的,可以检测 miRNAs、snoRNAs、piRNAs、tRNA 片段和其他各种 sncRNA 类别。我们检测了患有 DKD(69 人)或未患有 DKD(405 人)的 2 型糖尿病患者体内不同表达的 sncRNA。在辅助分析中,我们还检测了与eGFR、白蛋白尿(UACR)和血浆蛋白质组的关联:结果:共有 7 个 sncRNA 与流行性 DKD 呈负相关(所有 PFDR 均小于 0.05)。包括1个microRNA(miR-143-5p)、5个snoRNA(U8、SNORD118、SNORD24、SNORD107、SNORD87)和1个piRNA(piR-019825 | DQ597218)。蛋白质组分析表明,这 7 个 sncRNA,尤其是 piRNA piR-019825 与 24 种蛋白质的血浆水平有关,其中有几种蛋白质与肾功能有关,包括 TNF sR-I (TNFRFS1A)、DAN (NBL1) 和胱抑素 C (CST3):结论:我们发现了与糖尿病肾病相关的新型小非编码 RNA,主要来自 microRNA 以外的其他类别。我们的研究结果表明,小非编码 RNA 在 DKD 中的参与超出了已知的 microRNA,还涉及到其他类别的 sncRNA,特别是 snoRNA 和 piRNA piR-019825,而之前从未研究过它们与肾功能的关系。
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引用次数: 0
The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center. 肾上腺切除术在治疗嗜铬细胞瘤中的作用:葡萄牙一家转诊中心的经验。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-06-08 DOI: 10.1007/s12020-024-03916-y
Inês Costa Carvalho, Miguel V B Machado, João P Morais, Filipa Carvalho, Elisabete Barbosa, José Barbosa

Purpose: Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of pheochromocytoma in a referral center, with an emphasis on the minimally invasive adrenalectomy, which is the preferred therapeutic approach.

Methods: A retrospective analysis was performed on a cohort of patients diagnosed with pheochromocytoma who underwent adrenalectomy between January 2013 and December 2022. Clinical data including demographics, timelines, symptomatology, comorbidities, biochemical markers, genetic testing, surgical details, and follow-up outcomes, were collected and analyzed.

Results: The cohort included 44 patients, predominantly women (52.27%), with a median age of 53.39 years (range 13-83). Most of patients exhibited paroxysmal symptoms suggesting catecholamine excess. Documented hypertension was the most frequent (86.36%), along with glucose anomalies (40.01%) and anxiety disorder (31.82%). Genetic testing was performed in 36 (81.81%) patients and 14 (38.88%) revealed a positive result, predominantly RET pathogenic variant. Laparoscopic surgery was performed in 34 (79.07%) patients, showing significantly shorter operative time (2.5 h vs. 4.25 h, t-test p < 0,001) and fewer complications (23.53% vs 77.78%, p = 0.008). Postoperative complications occurred in 36.36% of the patients, mostly mild (grade I, 56.25%), with no mortality. SDHB pathogenic variant correlated with both recurrent and metastatic disease (p = 0.006). One-year follow-up reported 9.09% recurrence and 6.82% metastasis.

Conclusions: Adrenalectomy demonstrated a high safety and effectiveness. This study exhibited a higher rate of genetic testing referral than other studies. Despite past advances, there is still a need for further studies to establish protocols and evaluate new techniques.

目的:嗜铬细胞瘤是一种罕见的神经内分泌肿瘤。尽管发病率较低,但这类肿瘤的重要性毋庸置疑。本研究旨在分析一家转诊中心对嗜铬细胞瘤的治疗情况,重点是微创肾上腺切除术,这是首选的治疗方法:对2013年1月至2022年12月期间接受肾上腺切除术的嗜铬细胞瘤患者进行了回顾性分析。收集并分析了包括人口统计学、时间轴、症状学、合并症、生化指标、基因检测、手术细节和随访结果在内的临床数据:研究对象包括 44 名患者,主要为女性(52.27%),中位年龄为 53.39 岁(13-83 岁)。大多数患者表现出阵发性症状,提示儿茶酚胺过多。有记录的高血压患者最多(86.36%),此外还有血糖异常(40.01%)和焦虑症(31.82%)。36名患者(81.81%)进行了基因检测,14名患者(38.88%)检测结果呈阳性,主要是RET致病变体。34名患者(79.07%)接受了腹腔镜手术,手术时间明显缩短(2.5小时对4.25小时,t检验P结论:肾上腺切除术具有很高的安全性和有效性。与其他研究相比,本研究的基因检测转诊率更高。尽管过去取得了进步,但仍需进一步研究,以制定方案和评估新技术。
{"title":"The role of the adrenalectomy in the management of pheochromocytoma: the experience of a Portuguese referral center.","authors":"Inês Costa Carvalho, Miguel V B Machado, João P Morais, Filipa Carvalho, Elisabete Barbosa, José Barbosa","doi":"10.1007/s12020-024-03916-y","DOIUrl":"10.1007/s12020-024-03916-y","url":null,"abstract":"<p><strong>Purpose: </strong>Pheochromocytoma is a rare neuroendocrine tumor. Despite the low incidence, these tumors are of indisputable importance. This study aimed to analyze the management of pheochromocytoma in a referral center, with an emphasis on the minimally invasive adrenalectomy, which is the preferred therapeutic approach.</p><p><strong>Methods: </strong>A retrospective analysis was performed on a cohort of patients diagnosed with pheochromocytoma who underwent adrenalectomy between January 2013 and December 2022. Clinical data including demographics, timelines, symptomatology, comorbidities, biochemical markers, genetic testing, surgical details, and follow-up outcomes, were collected and analyzed.</p><p><strong>Results: </strong>The cohort included 44 patients, predominantly women (52.27%), with a median age of 53.39 years (range 13-83). Most of patients exhibited paroxysmal symptoms suggesting catecholamine excess. Documented hypertension was the most frequent (86.36%), along with glucose anomalies (40.01%) and anxiety disorder (31.82%). Genetic testing was performed in 36 (81.81%) patients and 14 (38.88%) revealed a positive result, predominantly RET pathogenic variant. Laparoscopic surgery was performed in 34 (79.07%) patients, showing significantly shorter operative time (2.5 h vs. 4.25 h, t-test p < 0,001) and fewer complications (23.53% vs 77.78%, p = 0.008). Postoperative complications occurred in 36.36% of the patients, mostly mild (grade I, 56.25%), with no mortality. SDHB pathogenic variant correlated with both recurrent and metastatic disease (p = 0.006). One-year follow-up reported 9.09% recurrence and 6.82% metastasis.</p><p><strong>Conclusions: </strong>Adrenalectomy demonstrated a high safety and effectiveness. This study exhibited a higher rate of genetic testing referral than other studies. Despite past advances, there is still a need for further studies to establish protocols and evaluate new techniques.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288855","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}
引用次数: 0
Prediction model for low bone mass mineral density in type 2 diabetes: an observational cross-sectional study. 2 型糖尿病患者骨质矿物质密度低的预测模型:一项观察性横断面研究。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 DOI: 10.1007/s12020-023-03500-w
Cheng Ji, Jie Ma, Lingjun Sun, Xu Sun, Lijuan Liu, Lijun Wang, Weihong Ge, Yan Bi

Purpose: Considering the prevalence of type 2 diabetes (T2D), osteoporosis should be considered a serious complication. However, an effective tool for the assessment of low bone mass mineral density (BMD) in T2D patients is not currently available. Therefore, the aim of our study was to establish a simple-to-use risk assessment tool by exploring risk factors for low BMD in T2D patients.

Methods: This study included 436 patients with a low BMD and 381 patients with a normal BMD. Multiple logistic regression analysis was performed to evaluate risk factors for low BMD in T2D patients. A nomogram was then developed from these results. A receiver operating characteristic (ROC) curve, calibration plot, and goodness-of-fit test were used to validate the nomogram. The clinical utility of the nomogram was also assessed.

Results: Multivariate logistic regression indicated that age, sex, education, body mass index (BMI), fasting C-peptide, high-density cholesterol (HDL), alkaline phosphatase (ALP), estimated glomerular filtration rate (eGFR), and type I collagen carboxy terminal peptide (S-CTX) were independent predictors for low BMD in T2D patients. The nomogram was developed from these variables using both the unadjusted area under the curve (AUC) and the bootstrap-corrected AUC (0.828). Calibration plots and the goodness-of-fit test demonstrated that the nomogram was well calibrated.

Conclusions: The nomogram-illustrated model can be used by clinicians to easily predict the risk of low BMD in T2D patients. Our study also revealed that common factors are independent predictors of low BMD risk. Our results provide a new strategy for the prediction, investigation, and facilitation of low BMD in T2D patients.

目的:考虑到 2 型糖尿病(T2D)的发病率,骨质疏松症应被视为一种严重的并发症。然而,目前还没有一种有效的工具来评估 T2D 患者的低骨质矿物质密度(BMD)。因此,我们的研究旨在通过探索 T2D 患者低骨矿物质密度的风险因素,建立一种简单易用的风险评估工具:这项研究包括 436 名低 BMD 患者和 381 名 BMD 正常的患者。采用多元逻辑回归分析评估 T2D 患者出现低 BMD 的风险因素。然后根据这些结果绘制了一个提名图。采用接收者操作特征曲线 (ROC) 、校准图和拟合优度检验来验证提名图。此外,还对提名图的临床实用性进行了评估:多变量逻辑回归表明,年龄、性别、教育程度、体重指数 (BMI)、空腹 C 肽、高密度胆固醇 (HDL)、碱性磷酸酶 (ALP)、估计肾小球滤过率 (eGFR) 和 I 型胶原羧基末端肽 (S-CTX) 是 T2D 患者低 BMD 的独立预测因素。使用未调整的曲线下面积 (AUC) 和引导校正的 AUC (0.828),根据这些变量绘制了提名图。校准图和拟合优度检验表明,提名图校准良好:结论:临床医生可利用显示的提名图模型轻松预测 T2D 患者的低 BMD 风险。我们的研究还发现,常见因素是低 BMD 风险的独立预测因素。我们的研究结果为预测、调查和促进 T2D 患者的低 BMD 提供了一种新策略。
{"title":"Prediction model for low bone mass mineral density in type 2 diabetes: an observational cross-sectional study.","authors":"Cheng Ji, Jie Ma, Lingjun Sun, Xu Sun, Lijuan Liu, Lijun Wang, Weihong Ge, Yan Bi","doi":"10.1007/s12020-023-03500-w","DOIUrl":"10.1007/s12020-023-03500-w","url":null,"abstract":"<p><strong>Purpose: </strong>Considering the prevalence of type 2 diabetes (T2D), osteoporosis should be considered a serious complication. However, an effective tool for the assessment of low bone mass mineral density (BMD) in T2D patients is not currently available. Therefore, the aim of our study was to establish a simple-to-use risk assessment tool by exploring risk factors for low BMD in T2D patients.</p><p><strong>Methods: </strong>This study included 436 patients with a low BMD and 381 patients with a normal BMD. Multiple logistic regression analysis was performed to evaluate risk factors for low BMD in T2D patients. A nomogram was then developed from these results. A receiver operating characteristic (ROC) curve, calibration plot, and goodness-of-fit test were used to validate the nomogram. The clinical utility of the nomogram was also assessed.</p><p><strong>Results: </strong>Multivariate logistic regression indicated that age, sex, education, body mass index (BMI), fasting C-peptide, high-density cholesterol (HDL), alkaline phosphatase (ALP), estimated glomerular filtration rate (eGFR), and type I collagen carboxy terminal peptide (S-CTX) were independent predictors for low BMD in T2D patients. The nomogram was developed from these variables using both the unadjusted area under the curve (AUC) and the bootstrap-corrected AUC (0.828). Calibration plots and the goodness-of-fit test demonstrated that the nomogram was well calibrated.</p><p><strong>Conclusions: </strong>The nomogram-illustrated model can be used by clinicians to easily predict the risk of low BMD in T2D patients. Our study also revealed that common factors are independent predictors of low BMD risk. Our results provide a new strategy for the prediction, investigation, and facilitation of low BMD in T2D patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140899959","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}
引用次数: 0
Primary resistance to selpercatinib in a patient with advanced medullary thyroid cancer. 一名晚期甲状腺髓样癌患者对赛铂替尼产生原发性耐药性。
IF 3 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Pub Date : 2024-10-01 Epub Date: 2024-05-27 DOI: 10.1007/s12020-024-03890-5
Fabian Pitoia, Pierpaolo Trimboli, Erika Abelleira

Selpercatinib, a selective RET kinase inhibitor, has demonstrated remarkable efficacy in treating patients with advanced medullary (MTC) and differentiated thyroid cancer with RET alterations. Primary resistance to selpercatinib is a very uncommon situation, and its underlying mechanisms are poorly understood. We report the case of a 42-year-old female with advanced MTC harboring a somatic M918T RET mutation who exhibited a primary resistance to selpercatinib. Despite prompt treatment initiation after the diagnosis of progressive disease, the patient continued experiencing rapid spread of disease, characterized by the appearance of new metastatic lesions and increased tumor burden. Genomic analysis revealed no additional mutations associated with on-target or off-target resistance. This case highlights a rare clinical scenario of primary resistance to selpercatinib in advanced MTC. While secondary resistance mechanisms have been well-documented, primary resistance remains poorly understood. Possible explanations include tumor heterogeneity and activation of alternative signaling pathways that stills need to be elucidated. Emerging therapies targeting resistance mechanisms and next-generation RET inhibitors offer promising avenues for further investigation.

赛乐替尼是一种选择性RET激酶抑制剂,在治疗伴有RET改变的晚期甲状腺髓样癌和分化型甲状腺癌患者方面疗效显著。对赛铂替尼产生原发性耐药的情况非常少见,其潜在机制也鲜为人知。我们报告了一例42岁女性晚期MTC患者的病例,该患者携带体细胞M918T RET突变,对舍铂卡尼产生了原发性耐药。尽管在确诊病情进展后及时开始了治疗,但患者的病情仍在迅速扩散,表现为出现新的转移病灶和肿瘤负荷增加。基因组分析未发现与靶上或靶下耐药相关的其他突变。该病例凸显了晚期 MTC 对赛铂替尼产生原发性耐药的罕见临床情况。虽然继发性耐药机制已被充分证实,但对原发性耐药机制的了解仍然很少。可能的原因包括肿瘤异质性和替代信号通路的激活,这些仍有待阐明。针对耐药机制的新兴疗法和下一代 RET 抑制剂为进一步研究提供了前景广阔的途径。
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引用次数: 0
期刊
Endocrine
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