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Relacorilant or surgery improved hemostatic markers in Cushing syndrome. 抗凝剂或手术可改善库欣综合征的止血指标。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-21 DOI: 10.1007/s40618-024-02468-2
C Simeoli, N Di Paola, A Stigliano, P Lardo, T Kearney, E Mezosi, E Ghigo, R Giordano, C N Mariash, D M Donegan, R A Feelders, A L Hand, K A Araque, A G Moraitis, R Pivonello

Purpose: Glucocorticoid-mediated hypercoagulability can persist in patients with endogenous Cushing syndrome (CS) after curative surgery and may transiently worsen early postoperatively. These studies aimed to characterize coagulation markers at baseline in patients with CS and the impact of relacorilant or remission post-surgery in an open-label, phase 2 study (NCT02804750) and a retrospective, longitudinal, surgical cohort study.

Methods: In the relacorilant study, 34 patients received relacorilant (100-200 mg/day for up to 12 weeks or 250-400 mg/day for up to 16 weeks) and had postbaseline data. Coagulation markers were assessed before and during treatment. In the surgical study, conducted at "Federico II" University of Naples, Italy, coagulation markers were assessed in 30 patients before surgery and after biochemical remission.

Results: In the relacorilant study, significant mean changes from baseline to last observed visit were reported in factor VIII (- 18.9%, P = 0.022), activated partial thromboplastin time (aPTT) (+ 1.5 s, P = 0.046), and platelet count (- 68.8*109/L, P < 0.0001), whereas von Willebrand factor was unchanged. In the surgical study, the mean time to hemostasis assessment was 6.2 months. Significant mean changes from baseline to hemostasis assessment were reported in factor VIII (- 24.2%, P = 0.044), von Willebrand factor (- 20.6%, P = 0.018), and aPTT (+ 2.0 s, P = 0.031), whereas platelet count was unchanged.

Conclusions: Several coagulation markers improved in patients with CS after 3-4 months of relacorilant treatment and within an average of 6 months after surgery. Relacorilant's positive effects on coagulation markers support further investigation of its use preoperatively in patients with CS or in patients who are not eligible for surgery.

Clinical trial registration number: NCT0280475 (registration date: 15 June 2016).

目的:内源性库欣综合征(CS)患者在治愈性手术后糖皮质激素介导的高凝状态可能持续存在,并可能在术后早期短暂恶化。这些研究旨在通过一项开放标签、2期研究(NCT02804750)和一项回顾性、纵向、手术队列研究,描述CS患者基线凝血标志物的特征,以及再抗凝剂或术后缓解的影响:在relacorilant研究中,34名患者接受了relacorilant治疗(100-200毫克/天,最长12周;250-400毫克/天,最长16周),并获得了基线后数据。在治疗前和治疗期间对凝血标志物进行了评估。在意大利那不勒斯 "费德里科二世 "大学进行的手术研究中,30 名患者在手术前和生化缓解后接受了凝血标志物评估:结果:在复发性研究中,从基线到最后一次观察,因子 VIII(- 18.9%,P = 0.022)、活化部分凝血活酶时间(aPTT)(+ 1.5 秒,P = 0.046)和血小板计数(- 68.8*109/L,P 结论:在复发性研究中,患者的几种凝血指标均有所改善:经过 3-4 个月的瑞乐可复治疗,CS 患者的几项凝血指标在术后平均 6 个月内有所改善。Relacorilant对凝血指标的积极影响支持进一步研究在CS患者或不符合手术条件的患者术前使用Relacorilant:临床试验注册号:NCT0280475(注册日期:2016年6月15日)。
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引用次数: 0
Comparative outcomes of systemic diseases in people with type 2 diabetes, or obesity alone treated with and without GLP-1 receptor agonists: a retrospective cohort study from the Global Collaborative Network : Author list. 使用和不使用 GLP-1 受体激动剂治疗 2 型糖尿病或单纯肥胖症患者全身性疾病的比较结果:全球合作网络的回顾性队列研究:作者列表。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-20 DOI: 10.1007/s40618-024-02466-4
Mahmoud Nassar, Omar Nassar, Hazem Abosheaishaa, Anoop Misra

Background: Glucagon-like peptide-1 receptor agonists (GLP-1RAs) are increasingly used to manage type 2 diabetes (T2D) and obesity. Despite their recognized benefits in glycemic control and weight management, their impact on broader systemic has been less explored.

Objective: This study aimed to evaluate the impact of GLP-1RAs on a variety of systemic diseases in people with T2D or obesity.

Methods: We conducted a retrospective cohort study using data from the Global Collaborative Network, accessed through the TriNetX analytics platform. The study comprised two primary groups: individuals with T2D and those with obesity. Each group was further divided into subgroups based on whether they received GLP-1RA treatment or not. Data were analyzed over more than a 5-year follow-up period, comparing incidences of systemic diseases; systemic lupus erythematosus (SLE), systemic sclerosis (SS), rheumatoid arthritis (RA), ulcerative colitis (UC), crohn's disease (CD), alzheimer's disease (AD), parkinson's disease (PD), dementia, bronchial asthma (BA), osteoporosis, and several cancers.

Results: In the T2D cohorts, GLP-1RA treatment was associated with significantly lower incidences of several systemic and metabolic conditions as compared to those without GLP-1RA, specifically, dementia (Risk Difference (RD): -0.010, p < 0.001), AD (RD: -0.003, p < 0.001), PD (RD: -0.002, p < 0.001), and pancreatic cancer (RD: -0.003, p < 0.001). SLE and SS also saw statistically significant reductions, though the differences were minor in magnitude (RD: -0.001 and - 0.000 respectively, p < 0.001 for both). Conversely, BA a showed a slight increase in risk (RD: 0.002, p < 0.001).

Conclusions: GLP-1RAs demonstrate potential benefits in reducing the risk of several systemic conditions in people with T2D or obesity. Further prospective studies are needed to confirm these effects fully and understand the mechanisms.

背景:胰高血糖素样肽-1受体激动剂(GLP-1RAs)越来越多地被用于控制2型糖尿病(T2D)和肥胖症。尽管它们在血糖控制和体重管理方面的益处已得到公认,但它们对更广泛的系统性影响的探讨却较少:本研究旨在评估 GLP-1RA 对 T2D 或肥胖症患者各种全身性疾病的影响:我们利用全球合作网络的数据开展了一项回顾性队列研究,这些数据可通过 TriNetX 分析平台获取。研究包括两个主要群体:T2D 患者和肥胖症患者。根据是否接受 GLP-1RA 治疗,每组又分为若干亚组。对超过 5 年的随访数据进行了分析,比较了全身性疾病的发病率;系统性红斑狼疮 (SLE)、系统性硬化症 (SS)、类风湿性关节炎 (RA)、溃疡性结肠炎 (UC)、克罗恩病 (CD)、阿兹海默病 (AD)、帕金森病 (PD)、痴呆症、支气管哮喘 (BA)、骨质疏松症和几种癌症:在 T2D 队列中,与未使用 GLP-1RA 的患者相比,GLP-1RA 治疗显著降低了几种全身性疾病和代谢性疾病的发病率,尤其是痴呆症(风险差值 (RD):-0.010,p 结论:GLP-1RA 具有潜在的益处:GLP-1RA 在降低 T2D 或肥胖症患者罹患多种全身性疾病的风险方面具有潜在的益处。需要进一步开展前瞻性研究,以全面证实这些效果并了解其机制。
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引用次数: 0
Peritoneal metastases in patients with neuroendocrine neoplasms: a challenging site of metastases with clinical and prognostic implications. 神经内分泌肿瘤患者的腹膜转移:具有临床和预后意义的棘手转移部位。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-03-07 DOI: 10.1007/s40618-024-02330-5
M Tsoli, H Wilson, P Armonis, L Kamieniarz, J Thuringer, R Mirnezami, M Caplin, G Kaltsas, C Toumpanakis

Purpose: Peritoneal metastases (PM) of neuroendocrine neoplasm (NEN) origin are identified with increasing frequency and exert a significant effect on quality of life and clinical status of the patients. The aim of this study was to identify the characteristics and the prognostic significance of PM in patients with NENs.

Methods: A retrospective analysis of the data of patients from two tertiary referral centers was performed. We defined a control group of age- and gender-matched NEN patients with comparable stage IV disease but no PM.

Results: We analysed 70 patients (41 females) with PM. Small intestine was the most common primary NEN site (87.1%). PM prevalence was 10.3%. Forty-four patients presented with synchronous PM, whereas 26 developed metachronous PM. The majority of patients had other concomitant metastases (50 hepatic, 6 lung and 12 bone metastases). Twelve patients developed intestinal obstruction. After PM diagnosis, 76% of patients received treatment with somatostatin analogues while six patients (8.6%) were treated with peptide receptor radionuclide therapy (PRRT). The median progression-free survival (PFS) in the PRRT-treated group was 15 months (95% CI 2-28). Median overall survival (OS) in the PM group was 142 months [95% CI 71-213] while it was not reached in the control group.

Conclusion: Peritoneal metastases show low prevalence among NEN patients and are most likely to develop in patients with small intestinal NENs and advanced metastatic disease. The presence of PM does seem to be associated with a negative prognostic impact on OS of NEN patients and their identification and prompt treatment is of major importance.

目的:起源于神经内分泌肿瘤(NEN)的腹膜转移瘤(PM)被发现的频率越来越高,并对患者的生活质量和临床状态产生重大影响。本研究旨在确定神经内分泌肿瘤患者腹膜转移瘤的特征和预后意义:我们对两家三级转诊中心的患者数据进行了回顾性分析。我们定义了一个对照组,该对照组由年龄和性别相匹配的念珠菌性阴道炎患者组成,他们的病情处于类似的 IV 期,但没有 PM:我们对 70 名 PM 患者(41 名女性)进行了分析。小肠是最常见的 NEN 原发部位(87.1%)。PM 患病率为 10.3%。44名患者表现为同步性息肉,26名患者表现为变异性息肉。大多数患者伴有其他转移(50例肝转移、6例肺转移和12例骨转移)。12名患者出现肠梗阻。确诊PM后,76%的患者接受了体生长激素类似物治疗,6名患者(8.6%)接受了肽受体放射性核素治疗(PRRT)。PRRT治疗组的中位无进展生存期(PFS)为15个月(95% CI 2-28)。PM组的中位总生存期(OS)为142个月[95% CI 71-213],而对照组未达到这一水平:腹膜转移在NEN患者中发病率较低,最有可能发生在小肠NEN和晚期转移性疾病患者中。腹膜转移瘤的存在似乎对NEN患者的OS预后有负面影响,因此识别腹膜转移瘤并及时治疗非常重要。
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引用次数: 0
High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients. 土耳其国家筛查计划转诊的疑似先天性甲状腺功能减退症婴儿中,一过性先天性甲状腺功能减退症的发生率很高:甲状腺素剂量可指导对一过性甲状腺功能减退症的预测。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-03-28 DOI: 10.1007/s40618-024-02348-9
Y Özer, A Anık, U Sayılı, U Tercan, R Deveci Sevim, S Güneş, M Buhur Pirimoğlu, S Elmaoğulları, I Dündar, D Ökdemir, Ö Besci, A Jalilova, D Çiçek, B Singin, Ş E Ulu, H Turan, S Albayrak, Z Kocabey Sütçü, B S Eklioğlu, E Eren, S Çetinkaya, Ş Savaş-Erdeve, I Esen, K Demir, Ş Darcan, N Hatipoğlu, M Parlak, F Dursun, Z Şıklar, M Berberoğlu, M Keskin, Z Orbak, B Tezel, E Yürüker, B Keskinkılıç, F Kara, E Erginöz, F Darendeliler, O Evliyaoğlu

Purpose: We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH.

Methods: This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by "National Newborn Screening Program" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET).

Results: Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750.

Conclusion: According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.

目的:我们旨在确定土耳其17个参与中心中短暂性先天性甲状腺功能减退症(TCH)的发病率,评估永久性先天性甲状腺功能减退症(PCH)病例的病因分布,并研究实验室和临床结果在预测TCH中的作用:这项回顾性多中心观察研究纳入了 "国家新生儿筛查计划"(NNSP)确定的17个儿科内分泌中心的2015年出生的患者,并对他们进行了为期6年的随访。病例的人口统计学、临床和实验室信息通过数据库http://cedd.saglik-network.org(CEDD-NET)进行整理。结果:在最初接受治疗的239例CH患者中,有128例(53.6%)被确定为一过性患者,他们在中位年龄36(34-38)个月时接受了停用左甲状腺素(LT4)的试验。在PCH患者(111人)中,39.6%(44人)被诊断为甲状腺发育不良。TCH的预测因素包括停药时的LT4剂量和最初的新生儿血液筛查(NBS)-TSH水平。根据接收器操作特征(ROC)曲线分析预测了TCH预测因素的最佳临界值,LT4剂量、NBS-TSH水平和LT4-TSH水平均可作为TCH的预测因素:根据我们的全国随访数据,TCH 发生率为 53.6%。我们确定了 LT4 剂量
{"title":"High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.","authors":"Y Özer, A Anık, U Sayılı, U Tercan, R Deveci Sevim, S Güneş, M Buhur Pirimoğlu, S Elmaoğulları, I Dündar, D Ökdemir, Ö Besci, A Jalilova, D Çiçek, B Singin, Ş E Ulu, H Turan, S Albayrak, Z Kocabey Sütçü, B S Eklioğlu, E Eren, S Çetinkaya, Ş Savaş-Erdeve, I Esen, K Demir, Ş Darcan, N Hatipoğlu, M Parlak, F Dursun, Z Şıklar, M Berberoğlu, M Keskin, Z Orbak, B Tezel, E Yürüker, B Keskinkılıç, F Kara, E Erginöz, F Darendeliler, O Evliyaoğlu","doi":"10.1007/s40618-024-02348-9","DOIUrl":"10.1007/s40618-024-02348-9","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to determine the frequency of transient congenital hypothyroidism (TCH) in 17 participating centers in Türkiye, evaluate the etiological distribution in permanent congenital hypothyroidism (PCH) cases, and investigate the role of laboratory and clinical findings in predicting TCH.</p><p><strong>Methods: </strong>This retrospective observational multicenter study included patients from 17 pediatric endocrinology centers identified by \"National Newborn Screening Program\" (NNSP) who were born in 2015 and followed for 6 years. Demographic, clinical, and laboratory information of the cases were compiled through the database http://cedd.saglik-network.org (CEDD-NET).</p><p><strong>Results: </strong>Of the 239 cases initially treated for CH, 128 (53.6%) were determined as transient in whom a trial of levothyroxine (LT4) withdrawal was performed at a median age of 36 (34-38) months. Among the patients with PCH (n = 111), thyroid dysgenesis was diagnosed in 39.6% (n = 44). The predictive factors for TCH were: LT4 dose at the withdrawal of treatment, and initial newborn blood screening (NBS)-TSH level. Based on the receiver operating characteristic (ROC) curve analysis to predict optimal cut-offs for TCH predictors, LT4 dose < 2.0 µg/kg/day at treatment discontinuation was predictive for TCH and was associated with 94.5% specificity and 55.7% sensitivity, with an area under the curve (AUC) of 0.802. The initial NBS-TSH level value < 45 µIU/mL was predictive for TCH with 93.1% specificity and 45.5% sensitivity, with an AUC of 0.641. In patients with eutopic thyroid gland only LT4 dose < 1.1 µg/kg/day at withdrawal time was predictive for TCH with 84.7% sensitivity and 40.4% specificity, with an AUC of 0.750.</p><p><strong>Conclusion: </strong>According to our national follow-up data, the frequency of TCH was 53.6%. We determined the LT4 dose < 2.0 µg/kg/day at discontinuation of treatment and the initial NBS-TSH level < 45 µIU/mL as the best cut-off limits to predict TCH.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11369008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140319593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Long-term prognostic value of thyroid hormones in left ventricular noncompaction. 甲状腺激素对左心室非萎缩的长期预后价值。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-02-15 DOI: 10.1007/s40618-024-02311-8
L Liu, S Cai, A Chen, Y Dong, L Zhou, L Li, Z Zhang, Z Hu, Z Zhang, Y Xiong, Z Hu, Y Li, M Lu, L Wu, L Zheng, L Ding, X Fan, Y Yao

Purpose: Thyroid function is closely related to the prognosis of cardiovascular diseases. This study aimed to explore the predictive value of thyroid hormones for adverse cardiovascular outcomes in left ventricular noncompaction (LVNC).

Methods: This longitudinal cohort study enrolled 388 consecutive LVNC patients with complete thyroid function profiles and comprehensive cardiovascular assessment. Potential predictors for adverse outcomes were thoroughly evaluated.

Results: Over a median follow-up of 5.22 years, primary outcome (the combination of cardiovascular mortality and heart transplantation) occurred in 98 (25.3%) patients. For secondary outcomes, 75 (19.3%) patients died and 130 (33.5%) patients experienced major adverse cardiovascular events (MACE). Multivariable Cox analysis identified that free triiodothyronine (FT3) was independently associated with both primary (HR 0.455, 95%CI 0.313-0.664) and secondary (HR 0.547, 95%CI 0.349-0.858; HR 0.663, 95%CI 0.475-0.925) outcomes. Restricted cubic spline analysis illustrated that the risk for adverse outcomes increased significantly with the decline of serum FT3. The LVNC cohort was further stratified according to tertiles of FT3 levels. Individuals with lower FT3 levels in the tertile 1 group suffered from severe cardiac dysfunction and remodeling, resulting in higher incidence of mortality and MACE (Log-rank P < 0.001). Subgroup analysis revealed that lower concentration of FT3 was linked to worse prognosis, particularly for patients with left atrial diameter ≥ 40 mm or left ventricular ejection fraction ≤ 35%. Adding FT3 to the pre-existing risk score for MACE in LVNC improved its predictive performance.

Conclusion: Through the long-term investigation on a large LVNC cohort, we demonstrated that low FT3 level was an independent predictor for adverse cardiovascular outcomes.

目的:甲状腺功能与心血管疾病的预后密切相关。本研究旨在探讨甲状腺激素对左心室非充盈(LVNC)患者不良心血管预后的预测价值:这项纵向队列研究招募了388名连续的LVNC患者,这些患者均有完整的甲状腺功能档案和全面的心血管评估。对不良后果的潜在预测因素进行了全面评估:在中位 5.22 年的随访中,98 例(25.3%)患者出现了主要结局(心血管死亡和心脏移植)。在次要结果中,75 例(19.3%)患者死亡,130 例(33.5%)患者发生主要心血管不良事件(MACE)。多变量考克斯分析发现,游离三碘甲状腺原氨酸(FT3)与主要(HR 0.455,95%CI 0.313-0.664)和次要(HR 0.547,95%CI 0.349-0.858;HR 0.663,95%CI 0.475-0.925)结局均有独立相关性。限制性三次样条分析表明,随着血清 FT3 的下降,不良后果的风险显著增加。根据 FT3 水平的三等分法对 LVNC 队列进行了进一步分层。FT3水平较低的1分位组患严重的心脏功能障碍和重塑,导致死亡率和MACE发生率升高(对数秩P 结论:FT3水平较低的1分位组患严重的心脏功能障碍和重塑,导致死亡率和MACE发生率升高(对数秩P 结论):通过对一个大型 LVNC 队列的长期调查,我们证实低 FT3 水平是不良心血管后果的独立预测因素。
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引用次数: 0
Temporal trends in the clinical presentation of Graves' orbitopathy: a single-center retrospective study. 巴塞杜氏眼眶病临床表现的时间趋势:一项单中心回顾性研究。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-03-15 DOI: 10.1007/s40618-024-02332-3
R Le Moli, A Naselli, F Lo Giudice, G Costanzo, F Frasca, A Belfiore

Purpose: Graves' ophthalmopathy (GO) is an autoimmune disease that affects orbital soft tissues and represents the most common extrathyroidal manifestation of Graves' disease (GD). The European Group of Graves' Ophthalmopathy (EUGOGO) has attempted to shed light on the European epidemiological picture of GO, suggesting that GO in newly diagnosed patients in recent years has a trend towards a less severe clinical presentation. There are no studies that focus this issue on the population of our area; we aimed to evaluate the trend of GO clinical presentation in our outpatient clinic through an observation period of 10 years.

Methods: We compared 55 consecutive patients, 11 males (F) and 44 females (M), who came to our observation from January 2005 to December 2006 [Group 1 (G1)], with 56 patients, 15 males, and 41 females, who were referred to us from 2015 to 2016 [Group 2 (G2)]. We studied the following putative predictors of GO presentation and severity: thyroid function, smoking, diabetes, hypercholesterolemia, time from GO diagnosis to referral to our thyroid centre (TGOD), sex and age.

Results: GO severity was significantly reduced in G2 vs. G1 (p = 0.04). TGOD ≥ 3 months was related to clinical characteristics of GO (severity and Clinical Activity Score ≥ 4) and was an independent predictor of GO severity (p = 0.01). The other variables evaluated had no independent effects.

Conclusions: We found that GO severity at presentation was significantly reduced over a ten-year observation period (2005-2006 vs. 2015-2016) in GO patients referred to our tertiary thyroid centre. TGOD ≥ 3 months was an independent predictor of GO severity.

目的:巴塞杜氏眼病(GO)是一种影响眼眶软组织的自身免疫性疾病,是巴塞杜氏病(GD)最常见的甲状腺外表现。欧洲巴塞杜氏眼病组织(EUGOGO)曾试图揭示巴塞杜氏眼病在欧洲的流行病学情况,结果表明,近年来新诊断出的巴塞杜氏眼病患者的临床表现有减轻的趋势。目前还没有针对本地区人群的研究;我们的目的是通过 10 年的观察,评估 GO 临床表现在我们门诊中的趋势:我们将 2005 年 1 月至 2006 年 12 月来我院观察的 55 名连续患者(男性 11 人,女性 44 人)[第一组(G1)]与 2015 年至 2016 年转诊的 56 名患者(男性 15 人,女性 41 人)[第二组(G2)]进行了比较。我们研究了以下可能预测GO表现和严重程度的因素:甲状腺功能、吸烟、糖尿病、高胆固醇血症、从GO确诊到转诊至我们甲状腺中心的时间(TGOD)、性别和年龄:结果:G2与G1相比,GO的严重程度明显降低(P = 0.04)。TGOD≥3个月与GO的临床特征(严重程度和临床活动评分≥4)有关,并且是GO严重程度的独立预测因素(p = 0.01)。其他评估变量没有独立影响:我们发现,在十年的观察期内(2005-2006年与2015-2016年),转诊到我们三级甲状腺中心的GO患者发病时的GO严重程度明显降低。TGOD≥3个月是GO严重程度的独立预测因素。
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引用次数: 0
When to suspect infantile hypercalcemia-1? 何时怀疑婴儿高钙血症-1?
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-02-08 DOI: 10.1007/s40618-024-02312-7
A Brancatella, D Cappellani, L Pierotti, E Dinoi, C Sardella, S Borsari, P Piaggi, F Baldinotti, M A Caligo, C Marcocci, F Cetani

Purpose: The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D3/24,25(OH)2D3 ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed. Aim of the study is to identify cut-offs of serum calcium and PTH useful to suspect patients with HCINF1.

Methods: We compared the levels of total serum calcium and PTH of 6 patients with HCINF1 harboring biallelic CYP24A1 pathogenic variants with 3 different control groups: (1) 12 subjects wild type for CYP24A1; (2) 12 subjects matched for age and sex; (3) 12 subjects matched for vitamin D levels. We validated the cut-offs, testing the number of adult patients affected by HCINF1 reported in the literature that could be identified using these cut-offs.

Results: A serum calcium level > 9.6 mg/dL showed the highest sensitivity (100%) and specificity (91%) in the comparison between homozygous and wild-type subjects. A serum PTH index < 0.315 showed the highest sensitivity (100%) and specificity (83.3%). A serum calcium level > 9.6 mg/dL was able to identify all adult HCINF1 patients whereas a PTH ratio < 0.315 identified 89.8% of the cases. Superimposable results were obtained using the other control groups.

Conclusion: Patients with serum calcium levels higher than 9.6 mg/dL and a PTH index lower than 0.315 are likely to be affected by HCINF1. Their diagnosis may be confirmed using MS and genetic analysis.

目的:怀疑婴儿高钙血症-1(HCINF1)的筛查试验是通过质谱(MS)测量 25(OH)D3/24,25(OH)2D3 的比值。当比值大于 80 时,诊断的金标准是基因分析。由于质谱的可用性有限,它可能并不是一种筛查检测方法,大多数 HCINF1 病例仍未被诊断出来。本研究的目的是确定有助于怀疑 HCINF1 患者的血清钙和 PTH 临界值:我们将 6 名携带双倍拷贝 CYP24A1 致病变体的 HCINF1 患者的血清总钙和 PTH 水平与 3 个不同的对照组进行了比较:(1) 12 名 CYP24A1 野生型受试者;(2) 12 名年龄和性别匹配的受试者;(3) 12 名维生素 D 水平匹配的受试者。我们对临界值进行了验证,测试了文献中报道的受 HCINF1 影响的成年患者中使用这些临界值可以识别的患者人数:结果:在同基因型和野生型受试者的比较中,血清钙水平大于 9.6 mg/dL 的敏感性(100%)和特异性(91%)最高。血清 PTH 指数为 9.6 mg/dL 能够识别所有 HCINF1 成年患者,而 PTH 比值为 9.6 mg/dL 则不能识别所有 HCINF1 成年患者:血清钙水平高于 9.6 mg/dL 且 PTH 指数低于 0.315 的患者很可能受 HCINF1 影响。可通过 MS 和基因分析确诊。
{"title":"When to suspect infantile hypercalcemia-1?","authors":"A Brancatella, D Cappellani, L Pierotti, E Dinoi, C Sardella, S Borsari, P Piaggi, F Baldinotti, M A Caligo, C Marcocci, F Cetani","doi":"10.1007/s40618-024-02312-7","DOIUrl":"10.1007/s40618-024-02312-7","url":null,"abstract":"<p><strong>Purpose: </strong>The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D<sub>3</sub>/24,25(OH)<sub>2</sub>D<sub>3</sub> ratio at mass spectroscopy (MS). When the ratio is > 80, the gold standard for the diagnosis is genetic analysis. Given its limited availability, MS may not represent a screening test and most cases of HCINF1 remain undiagnosed. Aim of the study is to identify cut-offs of serum calcium and PTH useful to suspect patients with HCINF1.</p><p><strong>Methods: </strong>We compared the levels of total serum calcium and PTH of 6 patients with HCINF1 harboring biallelic CYP24A1 pathogenic variants with 3 different control groups: (1) 12 subjects wild type for CYP24A1; (2) 12 subjects matched for age and sex; (3) 12 subjects matched for vitamin D levels. We validated the cut-offs, testing the number of adult patients affected by HCINF1 reported in the literature that could be identified using these cut-offs.</p><p><strong>Results: </strong>A serum calcium level > 9.6 mg/dL showed the highest sensitivity (100%) and specificity (91%) in the comparison between homozygous and wild-type subjects. A serum PTH index < 0.315 showed the highest sensitivity (100%) and specificity (83.3%). A serum calcium level > 9.6 mg/dL was able to identify all adult HCINF1 patients whereas a PTH ratio < 0.315 identified 89.8% of the cases. Superimposable results were obtained using the other control groups.</p><p><strong>Conclusion: </strong>Patients with serum calcium levels higher than 9.6 mg/dL and a PTH index lower than 0.315 are likely to be affected by HCINF1. Their diagnosis may be confirmed using MS and genetic analysis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":null,"pages":null},"PeriodicalIF":5.4,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139703801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Enhancing gestational diabetes mellitus risk assessment and treatment through GDMPredictor: a machine learning approach. 通过 GDMPredictor:一种机器学习方法,加强妊娠糖尿病风险评估和治疗。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-03-09 DOI: 10.1007/s40618-024-02328-z
J Xing, K Dong, X Liu, J Ma, E Yuan, L Zhang, Y Fang

Background: Gestational diabetes mellitus (GDM) is a serious health concern that affects pregnant women worldwide and can lead to adverse pregnancy outcomes. Early detection of high-risk individuals and the implementation of appropriate treatment can enhance these outcomes.

Methods: We conducted a study on a cohort of 3467 pregnant women during their pregnancy, with a total of 5649 clinical and biochemical records collected. We utilized this dataset as our training dataset to develop a web server called GDMPredictor. The GDMPredictor utilizes advanced machine learning techniques to predict the risk of GDM in pregnant women. We also personalize treatment recommendations based on essential biochemical indicators, such as A1MG, BMG, CysC, CO2, TBA, FPG, and CREA. Our assessment of GDMPredictor's effectiveness involved training it on the dataset of 3467 pregnant women and measuring its ability to predict GDM risk using an AUC and auPRC.

Results: GDMPredictor demonstrated an impressive level of precision by achieving an AUC score of 0.967. To tailor our treatment recommendations, we use the GDM risk level to identify higher risk candidates who require more intensive care. The GDMPredictor can accept biochemical indicators for predicting the risk of GDM at any period from 1 to 24 weeks, providing healthcare professionals with an intuitive interface to identify high-risk patients and give optimal treatment recommendations.

Conclusions: The GDMPredictor presents a valuable asset for clinical practice, with the potential to change the management of GDM in pregnant women. Its high accuracy and efficiency make it a reliable tool for doctors to improve patient outcomes. Early identification of high-risk individuals and tailored treatment can improve maternal and fetal health outcomes http://www.bioinfogenetics.info/GDM/ .

背景:妊娠糖尿病(GDM)是影响全球孕妇健康的一个严重问题,可导致不良的妊娠结局。及早发现高危人群并实施适当的治疗可改善妊娠结局:我们对 3467 名怀孕期间的孕妇进行了研究,共收集了 5649 份临床和生化记录。我们利用这个数据集作为训练数据集,开发了一个名为 GDMPredictor 的网络服务器。GDMPredictor 利用先进的机器学习技术预测孕妇患 GDM 的风险。我们还根据基本生化指标(如 A1MG、BMG、CysC、CO2、TBA、FPG 和 CREA)提供个性化治疗建议。我们对 GDMPredictor 的有效性进行了评估,包括在 3467 名孕妇的数据集上对其进行训练,并使用 AUC 和 auPRC 测量其预测 GDM 风险的能力:结果:GDMPredictor 的 AUC 得分为 0.967,显示出令人印象深刻的精确度。为了调整我们的治疗建议,我们使用 GDM 风险水平来识别需要更多强化护理的高风险候选者。GDMPredictor可接受生化指标,用于预测1至24周内任何时期的GDM风险,为医护人员提供了一个直观的界面来识别高风险患者并给出最佳治疗建议:GDMPredictor 为临床实践提供了宝贵的资产,有可能改变对孕妇 GDM 的管理。它的高准确性和高效性使其成为医生改善患者预后的可靠工具。早期识别高危人群并进行有针对性的治疗可改善孕产妇和胎儿的健康状况 http://www.bioinfogenetics.info/GDM/ 。
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引用次数: 0
Sex and disease severity-based analysis of steroid hormones in ME/CFS. 基于性别和疾病严重程度的 ME/CFS 类固醇激素分析。
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-05-10 DOI: 10.1007/s40618-024-02334-1
Cornelia Pipper, Linda Bliem, Luis E León, Daniela Mennickent, Claudia Bodner, Enrique Guzmán-Gutiérrez, Michael Stingl, Eva Untersmayr, Bernhard Wagner, Romina Bertinat, Nuno Sepúlveda, Francisco Westermeier

Purpose: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating disease characterized by persistent fatigue and decreased daily activity following physical and/or cognitive exertion. While ME/CFS affects both sexes, there is a higher prevalence in women. However, studies evaluating this sex-related bias are limited.

Methods: Circulating steroid hormones, including mineralocorticoids (aldosterone), glucocorticoids (cortisol, corticosterone, 11-deoxycortisol, cortisone), androgens (androstenedione, testosterone), and progestins (progesterone, 17α-hydroxyprogesterone), were measured in plasma samples using ultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS). Samples were obtained from mild/moderate (ME/CFSmm; females, n=20; males, n=8), severely affected patients (ME/CFSsa; females, n=24; males, n=6), and healthy controls (HC, females, n=12; males, n=17).

Results: After correction for multiple testing, we observed that circulating levels of 11-deoxycortisol, 17α-hydroxyprogesterone in females, and progesterone in males were significantly different between HC, ME/CFSmm, and ME/CFSsa. Comparing two independent groups, we found that female ME/CFSsa had higher levels of 11-deoxycortisol (vs. HC and ME/CFSmm) and 17α-hydroxyprogesterone (vs. HC). In addition, female ME/CFSmm showed a significant increase in progesterone levels compared to HC. In contrast, our study found that male ME/CFSmm had lower circulating levels of cortisol and corticosterone, while progesterone levels were elevated compared to HC. In addition to these univariate analyses, our correlational and multivariate approaches identified differential associations between our study groups. Also, using two-component partial least squares discriminant analysis (PLS-DA), we were able to discriminate ME/CFS from HC with an accuracy of 0.712 and 0.846 for females and males, respectively.

Conclusion: Our findings suggest the potential value of including steroid hormones in future studies aimed at improving stratification in ME/CFS. Additionally, our results provide new perspectives to explore the clinical relevance of these differences within specific patient subgroups.

目的:肌强直性脑脊髓炎/慢性疲劳综合征(ME/CFS)是一种使人衰弱的疾病,其特点是持续疲劳,体力和/或认知能力下降后日常活动减少。虽然 ME/CFS 对男女均有影响,但女性发病率更高。然而,评估这种与性别有关的偏差的研究却很有限:方法:使用超高效液相色谱-串联质谱法(UHPLC-MS/MS)测量血浆样本中的循环类固醇激素,包括矿物皮质激素(醛固酮)、糖皮质激素(皮质醇、皮质酮、11-脱氧皮质醇、可的松)、雄激素(雄烯二酮、睾酮)和孕激素(孕酮、17α-羟基孕酮)。样本取自轻度/中度患者(ME/CFSmm;女性,n=20;男性,n=8)、重度患者(ME/CFSsa;女性,n=24;男性,n=6)和健康对照组(HC,女性,n=12;男性,n=17):结果:经多重检验校正后,我们发现HC、ME/CFSmm和ME/CFSsa之间的11-脱氧皮质醇、17α-羟孕酮(女性)和孕酮(男性)循环水平存在显著差异。通过比较两个独立的群体,我们发现女性 ME/CFSsa 的 11-脱氧皮质醇(与 HC 和 ME/CFSmm 相比)和 17α- 羟孕酮(与 HC 相比)水平更高。此外,与 HC 相比,女性 ME/CFSmm 的孕酮水平显著增加。相反,我们的研究发现,与 HC 相比,男性 ME/CFSmm 的皮质醇和皮质酮循环水平较低,而孕酮水平则升高。除了这些单变量分析外,我们的相关性和多变量方法还发现了研究群体之间的不同关联。此外,利用双成分偏最小二乘判别分析(PLS-DA),我们能够将ME/CFS与HC区分开来,女性和男性的准确率分别为0.712和0.846:我们的研究结果表明,将类固醇激素纳入旨在改善 ME/CFS 分层的未来研究中具有潜在价值。此外,我们的研究结果还为探索这些差异在特定患者亚群中的临床意义提供了新的视角。
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引用次数: 0
Should there be a paradigm shift for the evaluation of isthmic thyroid nodules? 甲状腺峡部结节的评估模式是否应该转变?
IF 5.4 2区 医学 Q1 Medicine Pub Date : 2024-09-01 Epub Date: 2024-02-16 DOI: 10.1007/s40618-024-02313-6
Yağmur Babayid, Asena Gökçay Canpolat, Atilla Halil Elhan, Koray Ceyhan, Demet Çorapçıoğlu, Mustafa Şahin

Purpose: Although the thyroid isthmus seems like a rudimentary structure that connects bilateral lobes, it is an undiscovered area that needs to be explored. Currently, the data is evolving that the increase in the risk of malignancy is higher in the isthmic nodules, and extrathyroidal extensions and lymph node metastases are more common in isthmic-derived malignant thyroid nodules. Therefore, we aimed to compare the malignancy rate of isthmic and lobar nodules, the ultrasonographic features of isthmic and lobar nodules, and presence of lymph node metastases, distant metastases, and extrathyroidal invasions in malignant isthmic nodules.

Methods: In this retrospective study, we enrolled patients between the ages of 18-80 years, who had thyroid nodule/nodules cytology and/or pathology results from January 2009 to November 2022. 9504 nodules were selected for the analysis of US findings, cytopathology results, and malignancy rates.

Results: A mean ± SD age of 55.3 ± 13.0 years with a female to male ratio of [7618 (80.2%)/1886(19.8%)] were included in the study. 962 of the nodules were at isthmic localization; whereas 8542 nodules were at lobar localization. 1188 nodules were resulted as malignant from histopathological evaluation. Of the 1188 malignant nodules, 986 nodules were (83.0%) PTC, 114 nodules (9.6%) were FTC, 55 nodules were (4.6%) MTC, 16 nodules 1.3% were Hurtle cell carcinoma, 8 nodules (0.7%) were anaplastic thyroid carcinoma, and 9 nodules (0.8%) were thyroid tumors of uncertain malignant potential (TT-UMP). 156 of the malignant nodules (13.1%) were located in the isthmus, whereas the majority of the malignant nodules (n = 1032, 86.9%) were located at the lobar parts (right or left) of the thyroid. When the metastasis patterns of isthmic and lobar thyroid cancers were examined, no significant relationship was found between isthmic and lobar cancers in terms of capsule invasion (p = 0.435), muscle invasion (p = 0.294), and lymph node metastasis (p = 0.633). A significant relation was found between nodule localization (isthmus-upper-middle and lower lobes) and malignancy (p < 0.001). In our logistic regression analysis, isthmic and upper pole nodule localizations, age and TI-RADS were evaluated as independent risk factors for malignancy (p < 0.001 for all factors).

Conclusion: We recommend nodule localization has to be considered an additional risk factor when performing a Fine Needle Aspiration Biopsy for the increased malignancy risk in this localization.

目的:尽管甲状腺峡部看似是连接双侧甲状腺叶的一个不成熟结构,但它却是一个需要探索的未被发现的区域。目前,不断有数据表明,峡部结节的恶性风险增加较高,甲状腺外扩展和淋巴结转移在峡部恶性甲状腺结节中更为常见。因此,我们旨在比较峡部结节和叶状结节的恶性率,峡部结节和叶状结节的超声特征,以及恶性峡部结节中是否存在淋巴结转移、远处转移和甲状腺外侵犯:在这项回顾性研究中,我们收集了2009年1月至2022年11月期间年龄在18-80岁之间、有甲状腺结节/结节细胞学和/或病理学结果的患者。我们选取了9504个结节,对其US检查结果、细胞病理学结果和恶性率进行了分析:平均(±SD)年龄为 55.3 ± 13.0 岁,男女比例为 [7618 (80.2%)/1886 (19.8%)]。962个结节位于峡部,8542个结节位于肺叶。经组织病理学评估,1188 个结节为恶性。在这1188个恶性结节中,986个结节(83.0%)为PTC,114个结节(9.6%)为FTC,55个结节(4.6%)为MTC,16个结节(1.3%)为Hurtle细胞癌,8个结节(0.7%)为无细胞甲状腺癌,9个结节(0.8%)为恶性程度不确定的甲状腺肿瘤(TT-UMP)。恶性结节中有156个(13.1%)位于甲状腺峡部,而大多数恶性结节(1032个,86.9%)位于甲状腺叶部(右侧或左侧)。在研究峡部和叶状甲状腺癌的转移模式时,发现峡部和叶状甲状腺癌在囊侵犯(p = 0.435)、肌肉侵犯(p = 0.294)和淋巴结转移(p = 0.633)方面没有显著关系。结节定位(峡部-上、中、下叶)与恶性程度之间存在明显关系(p 结论:结节定位与恶性程度之间存在明显关系:我们建议,在进行细针抽吸活检时,必须将结节定位视为额外的风险因素,因为这种定位方式会增加恶性肿瘤的风险。
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引用次数: 0
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Journal of Endocrinological Investigation
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