The Journal of clinical endocrinology and metabolism最新文献

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Pancreatic Cancer Screening in New-Onset and Deteriorating Diabetes: Preliminary Results from the PANDOME Study. 胰腺癌筛查新发和恶化的糖尿病:PANDOME研究的初步结果。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-29 DOI: 10.1210/clinem/dgaf319
Richard C Frank, Brian Shim, Tammy Lo, Deep Pandya, Thorsten L Krebs, Charles Ma, Daniel Labow, Jill Denowitz, Naveen Anand, Pramila Krumholtz, Kiyoe Sullivan, Mark Sanchez, Xiang Eric Dong, Ramanathan Seshadri, Antolin Trinidad, Dugho Jin
{"title":"Pancreatic Cancer Screening in New-Onset and Deteriorating Diabetes: Preliminary Results from the PANDOME Study.","authors":"Richard C Frank, Brian Shim, Tammy Lo, Deep Pandya, Thorsten L Krebs, Charles Ma, Daniel Labow, Jill Denowitz, Naveen Anand, Pramila Krumholtz, Kiyoe Sullivan, Mark Sanchez, Xiang Eric Dong, Ramanathan Seshadri, Antolin Trinidad, Dugho Jin","doi":"10.1210/clinem/dgaf319","DOIUrl":"https://doi.org/10.1210/clinem/dgaf319","url":null,"abstract":"<p><strong>Objective: </strong>Pancreatic cancer (PC) has a high mortality rate due to the lack of early-stage detection strategies and lethality of advanced stage presentations. New-onset diabetes (NOD) in individuals >50 years old increases the risk 6-8-fold, making this group a target of early detection studies. There is also evidence that deteriorating diabetes (DD) may be a risk factor.</p><p><strong>Research design and methods: </strong>The study prospectively enrolled individuals >50 years with NOD or DD. Participants underwent magnetic resonance imaging/cholangiopancreatography (MRI/MRCP), blood biobanking and anxiety/depression monitoring. MRIs were scored as normal, benign-abnormal, suspicious or incidental finding. Glycemic indices and physician referral patterns were captured.</p><p><strong>Results: </strong>Over a 6-year period, 625 individuals were screened and 109 enrolled, 97 (89%) had NOD and 12 (11%) had DD. Compared to the NOD cohort, the DD cohort was older, had higher HbA1c levels (p=0.02), greater weight loss (p=0.0038) and insulin requirements (p<0.0001). Four pancreas biopsies were performed for suspicious findings (3.6%), with a stage 1 pancreatic ductal adenocarcinoma identified in the DD group, corresponding to an overall detection rate of 0.9% (1/109). The detection rates of benign pancreatic abnormalities and incidental findings revealed no safety signals. Endocrinologists were the main referral source for the DD cohort (p<0.001).</p><p><strong>Conclusions: </strong>Results from the PANDOME study thus far include the first reported screen-detected early-stage PC in a sporadic cohort. Our findings support the inclusion of a DD cohort in prospective PC screening studies in high-risk diabetes. Endocrinologists play an especially important role in the referral of individuals with DD.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decoding the pathophysiology of subclinical primary aldosteronism. 解码亚临床原发性醛固酮增多症的病理生理学。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-29 DOI: 10.1210/clinem/dgaf323
Madson Q Almeida
{"title":"Decoding the pathophysiology of subclinical primary aldosteronism.","authors":"Madson Q Almeida","doi":"10.1210/clinem/dgaf323","DOIUrl":"https://doi.org/10.1210/clinem/dgaf323","url":null,"abstract":"","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Use of Hypertonic Lactate - Current Evidence and Emerging Perspectives. 高渗乳酸的临床应用-目前的证据和新兴的观点。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-29 DOI: 10.1210/clinem/dgaf321
Mette Glavind Bülow Pedersen, Jens Hohwü Voigt, Esben Søndergaard, Niels Møller, Nikolaj Rittig
{"title":"Clinical Use of Hypertonic Lactate - Current Evidence and Emerging Perspectives.","authors":"Mette Glavind Bülow Pedersen, Jens Hohwü Voigt, Esben Søndergaard, Niels Møller, Nikolaj Rittig","doi":"10.1210/clinem/dgaf321","DOIUrl":"https://doi.org/10.1210/clinem/dgaf321","url":null,"abstract":"<p><strong>Context: </strong>Lactate has traditionally been viewed as a metabolic byproduct associated with metabolic acidosis, exercise-induced fatigue, and cancer metabolism. However, accumulating evidence highlights its valuable role as an alternative fuel and a key signaling molecule. Hypertonic sodium lactate infusions have gained interest for their potential therapeutic applications, particularly in neurology and cardiology. This review examines the established and potential clinical uses of exogenous hypertonic lactate treatment.</p><p><strong>Evidence acquisition: </strong>A literature search was conducted in PubMed and Medline using the keywords: hypertonic lactate, half-molar sodium lactate, sodium lactate, and exogenous lactate.The search was limited to human studies investigating hypertonic sodium lactate solutions with a lactate concentration ≥500 mmol/L as an intervention. Case reports, pediatric studies, preclinical research, and studies in psychiatric populations were excluded.</p><p><strong>Evidence synthesis: </strong>Infusion of hypertonic lactate has demonstrated promising effects across several clinical settings, serving as an alternative fuel for the brain that supports up to 20% of cerebral energy metabolism. In patients with traumatic brain injury (TBI), lactate treatment increases cerebral glucose availability, reduces intracranial pressure, and enhances cognitive recovery. In the heart, lactate infusion increases cardiac output, stroke volume, and ejection fraction, potentially benefiting heart failure patients. Hypertonic lactate infusions are generally well tolerated, with minor electrolyte changes as the most common side effect.</p><p><strong>Conclusions: </strong>Lactate is emerging as a therapeutic agent beyond its traditional role in metabolism. Hypertonic sodium lactate infusions have potential therapeutic benefits within neurology and cardiology, but large-scale trials are required to evaluate efficacy, optimize dosing, and assess long-term safety.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Stable iodine intake and thyroid screening outcomes after the Fukushima Nuclear Disaster: an observational study. 福岛核灾难后稳定碘摄入量和甲状腺筛查结果:一项观察性研究。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-29 DOI: 10.1210/clinem/dgaf312
Yoshitaka Nishikawa, Fumiya Oguro, Chiaki Suzuki, Yurie Kobashi, Naomi Ito, Yoshimitsu Takahashi, Takeo Nakayama, Aya Goto, Masaharu Tsubokura
{"title":"Stable iodine intake and thyroid screening outcomes after the Fukushima Nuclear Disaster: an observational study.","authors":"Yoshitaka Nishikawa, Fumiya Oguro, Chiaki Suzuki, Yurie Kobashi, Naomi Ito, Yoshimitsu Takahashi, Takeo Nakayama, Aya Goto, Masaharu Tsubokura","doi":"10.1210/clinem/dgaf312","DOIUrl":"https://doi.org/10.1210/clinem/dgaf312","url":null,"abstract":"<p><strong>Context: </strong>Stable iodine intake is crucial in preventing thyroid cancer after radiological emergencies; however, the association between stable iodine intake and thyroid outcomes in children after the Fukushima Daiichi Nuclear Power Plant (FDNPP) accident remains unclear.</p><p><strong>Objective: </strong>To describe thyroid screening outcomes and investigate the association between stable iodine intake and those outcomes in children after the FDNPP accident.</p><p><strong>Design: </strong>Observational study.</p><p><strong>Setting: </strong>Regional thyroid screening program conducted by the Research Institute of Radiation Safety for Disaster Recovery Support in Fukushima, Japan.</p><p><strong>Participants: </strong>Children born between April 1998 and March 2011 in Miharu Town (n=1,974), where stable iodine intake was implemented during the FDNPP accident.</p><p><strong>Intervention: </strong>None.</p><p><strong>Main outcome measure: </strong>The association between stable iodine intake and thyroid ultrasound results was examined using logistic regression analysis. Coarsened exact matching was used to balance sex and age.</p><p><strong>Results: </strong>Among the participants, 1,095 (55.5%) consumed stable iodine, whereas 879 (44.5%) did not. In the age- and sex-matched group of 1,952 children (1,088 in the intake and 864 in non-intake group), no association was observed between stable iodine intake and thyroid screening results, indicating the need for a detailed examination (odds ratio: 0.839; 95% confidence interval: 0.393─1.8, p = 0.647). The volume and parenchymal heterogeneity were not different between these groups.</p><p><strong>Conclusions: </strong>Stable iodine intake was not associated with thyroid ultrasound screening results, probably because of the low radiation doses following the FDNPP accident. Parenchymal heterogeneity and thyroid volume were similar, supporting the conclusion that the adverse effects of single-dose stable iodine are minimal.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical features, metabolic and autoimmune derangements in acquired partial lipodystrophy (Barraquer-Simons Syndrome). 获得性部分脂肪营养不良(Barraquer-Simons综合征)的临床特征、代谢和自身免疫紊乱。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-28 DOI: 10.1210/clinem/dgaf315
Chatchon Kaewkrasaesin, Michael Hwang, Chandna Vasandani, Rebecca J Brown, Abhimanyu Garg
{"title":"Clinical features, metabolic and autoimmune derangements in acquired partial lipodystrophy (Barraquer-Simons Syndrome).","authors":"Chatchon Kaewkrasaesin, Michael Hwang, Chandna Vasandani, Rebecca J Brown, Abhimanyu Garg","doi":"10.1210/clinem/dgaf315","DOIUrl":"https://doi.org/10.1210/clinem/dgaf315","url":null,"abstract":"<p><strong>Introduction: </strong>Acquired partial lipodystrophy (APL) is an ultra-rare disorder characterized by unique loss of subcutaneous fat affecting mostly the face, neck, trunk and upper extremities. The precise prevalence of metabolic derangements and other co-morbidities amongst patients with APL is not clear. Therefore, we report clinical features, metabolic and autoimmune derangements in a large cohort.</p><p><strong>Methods: </strong>Seventy-seven females and 9 males with median age of 40 years (range 8-78 years) with APL from two tertiary referral centers, UT Southwestern and National Institute of Diabetes and Digestive and Kidney Diseases in United States, were recruited into prospective observational studies. The demographic, health history, and laboratory data at the initial evaluation and follow-up were systematically collected and analyzed.</p><p><strong>Results: </strong>The median age of onset of lipodystrophy was seven years (range, 2-51 years). About 15% had autoimmune diseases, 38% had either diabetes mellitus (DM) or glucose intolerance, 43% had hypertriglyceridemia, and 61% had fatty liver or metabolic dysfunction-associated steatohepatitis (MASH). A total of 71% of patients had low serum complement 3 (C3) levels, 8% had membranoproliferative glomerulonephritis, while drusen occurred in 62% of those with fundus examination (n=21). Patients with C3 hypocomplementemia, compared to those with normal serum C3 level, reported earlier onset of DM or glucose intolerance (median age 36 vs 56.5 years, p=0.007), hypertriglyceridemia (30 vs 48 years, p=0.03); and drusen (33 vs 60 years, p=0.14).</p><p><strong>Conclusions: </strong>Our data reveal high risk of metabolic comorbidities and drusen in patients with APL, with earlier onset of these complications in those with C3 hypocomplementemia.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Timing is everything - early diagnosis of congenital hypogonadotropic hypogonadism. 时机决定一切——早期诊断先天性促性腺功能减退症。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-28 DOI: 10.1210/clinem/dgaf320
Jorma Toppari, Taneli Raivio, Sasha R Howard
{"title":"Timing is everything - early diagnosis of congenital hypogonadotropic hypogonadism.","authors":"Jorma Toppari, Taneli Raivio, Sasha R Howard","doi":"10.1210/clinem/dgaf320","DOIUrl":"https://doi.org/10.1210/clinem/dgaf320","url":null,"abstract":"","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144176469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data. 27例杂合子NPR2变异儿童的临床特征和对生长激素治疗的反应:真实世界数据。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-27 DOI: 10.1210/clinem/dgaf309
Judith S Renes, Ardine M J Reedijk, Anita C S Hokken-Koelega, Yvonne M C Hendriks, Boudewijn Bakker, Annemieke M Boot, Petra A van Setten, Danielle C M van der Kaay, Hermine A van Duyvenvoorde, Rutger A J Nievelstein, Monique Losekoot, Christiaan de Bruin
{"title":"Clinical characteristics and response to growth hormone treatment in 27 children with heterozygous NPR2 variants: real-world data.","authors":"Judith S Renes, Ardine M J Reedijk, Anita C S Hokken-Koelega, Yvonne M C Hendriks, Boudewijn Bakker, Annemieke M Boot, Petra A van Setten, Danielle C M van der Kaay, Hermine A van Duyvenvoorde, Rutger A J Nievelstein, Monique Losekoot, Christiaan de Bruin","doi":"10.1210/clinem/dgaf309","DOIUrl":"https://doi.org/10.1210/clinem/dgaf309","url":null,"abstract":"<p><strong>Context: </strong>NPR2 plays a critical role in the human growth plate. Heterozygous NPR2 variants result in varying degrees of short stature. Most individuals have no specific clinical findings and are classified as idiopathic short stature.</p><p><strong>Objective and design: </strong>To describe phenotypic characteristics, analyze genotype-phenotype correlations and assess response to growth hormone (GH) treatment in children with a heterozygous (likely) pathogenic NPR2 variant. Twenty-seven children and adolescents (18 boys, 9 girls) were identified in the Dutch National Registry of GH treatment in children.</p><p><strong>Results: </strong>We found 18 different NPR2 variants in 27 children. Five variants were truncating, 11 non-truncating and 2 splice site. Most were located in the ligand binding domain or kinase homology domain (KHD). Median (IQR) baseline height SDS was -2.9 (-3.3 to -2.4). Mild features suggestive of a skeletal dysplasia were found in 89%, most frequently mild disproportion and dysmorphic features of the hands. Patients with a truncating NPR2 variant had a shorter height compared to children with a non-truncating variant (-3.3 versus -2.5 SDS, P=0.02). Patients with a KHD variant had shorter height than those with a variant in another domain (-3.2 SDS versus -2.5 SDS, P<0.01). After 2 years of GH treatment, median height gain SDS in prepubertal children was 1.2 (0.8 to 1.4) and in pubertal children 0.5 (0.3 to 0.9). Near adult height (AH) improved in 5/6 children.</p><p><strong>Conclusions: </strong>The majority of patients with a heterozygous (likely) pathogenic NPR2 variant have mild features suggestive of skeletal dysplasia. We furthermore show that the majority of NPR2 patients have a significant growth response during the first 2 years of GH treatment.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MCT8 deficiency in females. MCT8缺乏症。
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-27 DOI: 10.1210/clinem/dgaf311
Stefan Groeneweg, Ferdy S van Geest, Floor van der Most, Lucia Abela, Paolo Alfieri, Andrew J Bauer, Enrico Bertini, Marco Cappa, Nurullah Çelik, Irenaeus F M de Coo, Anna Dolcetta-Capuzzo, Ilja Dubinski, Jorge L Granadillo, Lies H Hoefsloot, Vera M Kalscheuer, Marieke M van der Knoop, Heiko Krude, Kyle P McNerney, Laura Paone, Robin P Peeters, Catherine Peters, Markus Schuelke, Ulrich Schweizer, Jennifer E Sprague, A S Paul van Trotsenburg, Nina-Maria Wilpert, Ginevra Zanni, Laura J C M van Zutven, W Edward Visser
{"title":"MCT8 deficiency in females.","authors":"Stefan Groeneweg, Ferdy S van Geest, Floor van der Most, Lucia Abela, Paolo Alfieri, Andrew J Bauer, Enrico Bertini, Marco Cappa, Nurullah Çelik, Irenaeus F M de Coo, Anna Dolcetta-Capuzzo, Ilja Dubinski, Jorge L Granadillo, Lies H Hoefsloot, Vera M Kalscheuer, Marieke M van der Knoop, Heiko Krude, Kyle P McNerney, Laura Paone, Robin P Peeters, Catherine Peters, Markus Schuelke, Ulrich Schweizer, Jennifer E Sprague, A S Paul van Trotsenburg, Nina-Maria Wilpert, Ginevra Zanni, Laura J C M van Zutven, W Edward Visser","doi":"10.1210/clinem/dgaf311","DOIUrl":"https://doi.org/10.1210/clinem/dgaf311","url":null,"abstract":"<p><strong>Context: </strong>Monocarboxylate transporter (MCT) 8 facilitates thyroid hormone transport across the blood-brain-barrier. Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), characterized by intellectual and motor disability and abnormal thyroid function tests. MCT8 deficiency typically affects males due to its X-linked inheritance. Here, we report 8 female patients with heterozygous pathogenic variants in SLC16A2 who presented with variable neurocognitive impairment, behavioural problems and thyroid hormone function abnormalities.</p><p><strong>Methods: </strong>We performed X-chromosome inactivation studies in female patients in whom heterozygous pathogenic variants in SLC16A2 were identified. The impact of SLC16A2 variants on thyroid hormone transport was assessed in transfected cells and patient-derived fibroblasts.</p><p><strong>Results: </strong>In all patients (mean age 8.6 years, range 2.3-25 years) routine care genetic analyses identified heterozygous variants in SLC16A2 (p.(R445C), p.(N193I), p.(G276R), t(X;20) resulting in a breakpoint in intron 1, t(X;19) resulting in a breakpoint in SLC16A2, p.(I562Sfs566*), p.(G221R)). All missense variants showed substantially reduced MCT8-mediated thyroid hormone uptake in transiently transfected cells. X-chromosome inactivation studies in patient cells showed skewed X-inactivation in all 7 evaluated individuals. In 5 out of 7 evaluated cases, MCT8-mediated T3 uptake in patient-derived fibroblasts was impaired to a similar degree as in fibroblasts derived from male patients with MCT8 deficiency.</p><p><strong>Conclusions: </strong>Female patients with heterozygous pathogenic variants in SLC16A2 and skewed X-chromosome inactivation may present variable neuro(psycho)logical, behavioural and thyroid function test abnormalities. Female patients presenting with neurocognitive impairment and abnormal thyroid hormone function tests (low free T4 and/or high total T3 concentrations) should be tested for genetic variants in SLC16A2.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144153228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association Between Free Triiodothyronine and Diabetic Peripheral Neuropathy in Euthyroid Patients With Type 2 Diabetes. 游离三碘甲状腺原氨酸与2型糖尿病甲状腺功能正常患者糖尿病周围神经病变的关系
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-27 DOI: 10.1210/clinem/dgaf304
Bing'er Xu, Xinyu Yang, Yu Ma, Yanfeng Jiang, Yuxiao Jiang, Xu Li, Shuqi Li, Xiaoyang Sun, Xiaopeng Zhu, Chenmin Fan, Miao Zhang, Xilei Ban, Guligeina Aikebaier, Ziping Bai, Wenfei Duan, Yang He, Xingdong Chen, Xin Gao, Jihong Dong, Mingfeng Xia, Hua Bian
{"title":"Association Between Free Triiodothyronine and Diabetic Peripheral Neuropathy in Euthyroid Patients With Type 2 Diabetes.","authors":"Bing'er Xu, Xinyu Yang, Yu Ma, Yanfeng Jiang, Yuxiao Jiang, Xu Li, Shuqi Li, Xiaoyang Sun, Xiaopeng Zhu, Chenmin Fan, Miao Zhang, Xilei Ban, Guligeina Aikebaier, Ziping Bai, Wenfei Duan, Yang He, Xingdong Chen, Xin Gao, Jihong Dong, Mingfeng Xia, Hua Bian","doi":"10.1210/clinem/dgaf304","DOIUrl":"https://doi.org/10.1210/clinem/dgaf304","url":null,"abstract":"<p><strong>Objective: </strong>To explore the relationship between free triiodothyronine (FT3) and diabetic peripheral neuropathy (DPN) in Euthyroid patients with type 2 diabetes mellitus.</p><p><strong>Methods: </strong>We enrolled 1422 hospitalized patients with type 2 diabetes from Zhongshan Hospital, Fudan University. All participants underwent electromyographic examinations, including nerve conduction velocity (NCV), terminal motor and sensor latency (DML and DSL), sensory nerve action potential (SNAP) amplitude, and compound muscle action potential (CMAP) amplitude.</p><p><strong>Results: </strong>A total of 519 (36.5%) patients with type 2 diabetes can be diagnosed as DPN according to their clinical symptoms and results of electromyography. Compared with those without DPN, the patients with DPN had a longer duration of diabetes, poorer blood glucose control and lower BMI levels, accompanied with higher proportions of diabetic retinopathy, diabetic nephropathy and cardiovascular disease (all p<0.05). Serum FT3 level were significantly lower in patients with DPN than those without DPN (4.08±0.64 vs 4.39±0.63 pmol/L, p<0.001), and FT3 was inversely correlated with the nerve DML and DSL, and positively correlated with the CMAP, SNAP, NCV of all nerves we measured in the patients with DPN (all P <0.05). The inverse correlation between serum FT3 and risk of DPN remained significant after multivariate adjustment for potential confounders (p<0.05). A mendelian randomization analysis also indicated a causal effect of serum FT3 on the risk of DPN.</p><p><strong>Conclusion: </strong>Low FT3 is a risk factor of DPN among euthyroid patients with type 2 diabetes.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144153220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The USP8 Mutational Status in Combination With Postsurgical Cortisol Levels for Predicting Recurrence of Cushing Disease. USP8突变状态与术后皮质醇水平联合预测库欣病复发
The Journal of clinical endocrinology and metabolism Pub Date : 2025-05-27 DOI: 10.1210/clinem/dgaf269
Weiwei Zhou, Sichang Zheng, Lei Ye, Tingwei Su, Jing Xie, Lei Jiang, Yiran Jiang, Xu Zhong, Luming Wu, Wenzhong Zhou, Weiqing Wang
{"title":"The USP8 Mutational Status in Combination With Postsurgical Cortisol Levels for Predicting Recurrence of Cushing Disease.","authors":"Weiwei Zhou, Sichang Zheng, Lei Ye, Tingwei Su, Jing Xie, Lei Jiang, Yiran Jiang, Xu Zhong, Luming Wu, Wenzhong Zhou, Weiqing Wang","doi":"10.1210/clinem/dgaf269","DOIUrl":"https://doi.org/10.1210/clinem/dgaf269","url":null,"abstract":"<p><strong>Context: </strong>The ubiquitin-specific protease 8 (USP8) gene mutations are the most common driver changes in Cushing disease (CD). However, few studies have investigated the association between USP8 mutation and recurrence, and the results have been inconclusive.</p><p><strong>Objective: </strong>To identify the predictors of recurrence and evaluate the prognostic role of USP8 mutation.</p><p><strong>Methods: </strong>One hundred and seven patients with pathologically confirmed corticotroph adenomas were included. Somatic USP8 mutations were identified using Sanger sequencing. Recurrence predictors were estimated using multivariate Cox models, followed by receiver operating characteristic curves and Kaplan-Meier analysis.</p><p><strong>Results: </strong>Thirteen patients (12.6%) experienced recurrence, with a mean follow-up period of 65 months after surgery. The recurrence rate was significantly higher in USP8-mutated tumors than in USP8 wildtype tumors (26.5% vs 5.8%; P = .009). Multivariate Cox models revealed that USP8 mutation, high postsurgical morning serum cortisol (MSC), and high 1-mg dexamethasone suppression test (DST) were associated with an increased 5-year recurrence risk. Furthermore, Kaplan-Meier survival analysis showed that patients with USP8 mutation, combined with either high postsurgical MSC (>2.5 μg/dL) or high 1-mg DST (>0.78 μg/dL), were more prone to recurrence (log-rank P < .001). The negative predictive values were 98% and 100%, while the positive predictive values improved from 33% to 55% and from 47% to 86%, respectively.</p><p><strong>Conclusion: </strong>Our study corroborates USP8 mutational status in combination with postsurgical MSC or 1-mg DST as independent predictors of long-term remission, highlighting their potential role in stratifying patients at risk for suboptimal outcomes.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144164712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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