Journal of Clinical Endocrinology & Metabolism最新文献

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Autoimmune Thyroid Diseases and Microscopic Colitis: A Nationwide Matched Case-Control Study in Sweden.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-05 DOI: 10.1210/clinem/dgaf140
David Bergman, Xiaoying Kang, Jiangwei Sun, Fahim Ebrahimi, Jonas F Ludvigsson
{"title":"Autoimmune Thyroid Diseases and Microscopic Colitis: A Nationwide Matched Case-Control Study in Sweden.","authors":"David Bergman, Xiaoying Kang, Jiangwei Sun, Fahim Ebrahimi, Jonas F Ludvigsson","doi":"10.1210/clinem/dgaf140","DOIUrl":"https://doi.org/10.1210/clinem/dgaf140","url":null,"abstract":"<p><strong>Background: </strong>Microscopic colitis (MC), comprising collagenous colitis (CC) and lymphocytic colitis (LC), is an inflammatory condition of the colon, characterized by watery diarrhoea. Previous studies suggest an association between autoimmune thyroid diseases (AITDs) (Hashimoto's thyroiditis and Graves' disease) and MC; however, large-scale histology studies are lacking.</p><p><strong>Methods: </strong>We conducted a nationwide, matched case-control study. Patients with biopsy-confirmed MC diagnosed between 2006 and 2017 were identified through the population-based histopathology cohort ESPRESSO. Data on AITDs and covariates were retrieved from Swedish national healthcare registers. Odds ratios (ORs) for MC associated with prior AITDs were estimated using conditional logistic regression. Sibling comparisons were performed to minimize shared genetic and environmental confounding.</p><p><strong>Results: </strong>Among 10,301 MC cases and 48,712 controls, AITDs were significantly more prevalent in MC patients (12.0%) than in controls (7.8%), yielding an adjusted OR of 1.65 (95% confidence interval (CI): 1.54-1.77). This association was attenuated but remained significant in sibling analyses (OR: 1.26; 95%CI: 1.11-1.43) The association was stronger in patients diagnosed with MC before age 50 (OR: 2.41; 95%CI: 2.02-2.89). Subgroup analyses revealed no difference between CC and LC or between sexes.</p><p><strong>Conclusion: </strong>Individuals with AITDs are at an increased risk of developing MC. That this association was robust across various subgroups may be indicative of shared underlying mechanisms. Our findings highlight the importance of being vigilant of gastrointestinal symptoms in patients with AITDs and that patients with persistent symptoms despite achieving euthyroidism should be evaluated for MC.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558686","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
Caloric Restriction, the Menstrual Cycle and Sleep in Women without Obesity.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-05 DOI: 10.1210/clinem/dgaf145
Anne E Kim, Skand Shekhar, Katie R Hirsch, Bona P Purse, John A McGrath, Theodore T Zava, Abbie E Smith-Ryan, Janet E Hall
{"title":"Caloric Restriction, the Menstrual Cycle and Sleep in Women without Obesity.","authors":"Anne E Kim, Skand Shekhar, Katie R Hirsch, Bona P Purse, John A McGrath, Theodore T Zava, Abbie E Smith-Ryan, Janet E Hall","doi":"10.1210/clinem/dgaf145","DOIUrl":"https://doi.org/10.1210/clinem/dgaf145","url":null,"abstract":"<p><strong>Introduction: </strong>Short-term caloric restriction is common practice in women and may alleviate sleep apnea in obese women. We studied the impact of dietary restriction on sleep and its interplay with reproductive hormones across the menstrual cycle in women without obesity.</p><p><strong>Methods: </strong>Seventeen healthy women without obesity, aged 23.6 ± 2.3 years (mean ±SD) underwent a neutral and deficient energy availability diet (NEA, ±0% and DEA, -55%, respectively) in the EFP of two menstrual cycles. Actigraphic data and urinary LH, estrone-3-glucuronide (E1G), and pregnanediol-3-glucuronide (PDG) were collected daily. Blood orexin and leptin were collected on the fifth day of each diet. Sleep was analyzed in relation to menstrual cycle phase, diet and hormones.</p><p><strong>Results: </strong>DEA and menstrual cycle phase independently affected wake after sleep onset (WASO; p=0.004, p=0.007 for diet and cycle phase, respectively) and number of awakenings (NOA; p=0.03, p=0.0006, respectively) with greatest sleep disruption in the late luteal phase (LLP). Sleep efficiency (SE) was lower, and duration of awakenings (DOA) was longer in association with dietary restriction. Orexin was positively associated with WASO (p=0.02), sleep fragmentation index (p=0.001), and NOA (p=0.009), and inversely related to SE (p=0.02). Increasing PDG was associated with WASO (p<0.05) and duration of awakenings (p<0.05) and inversely associated with SE (p<0.01). Increasing E1G was positively associated with WASO (p<0.05) and NOA (p<0.01).</p><p><strong>Conclusions: </strong>Short-term modest caloric restriction independently disrupts sleep and exacerbates changes in sleep that occur across the menstrual cycle in healthy, young women without obesity.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558687","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
Letter to the Editor from Fuld et al: "Performance of Aldosterone-to-renin Ratio Before Washout of Antihypertensive Drugs in Screening of Primary Aldosteronism".
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-05 DOI: 10.1210/clinem/dgaf139
Sybille Fuld, Georgiana Constantinescu, Jacques Lenders
{"title":"Letter to the Editor from Fuld et al: \"Performance of Aldosterone-to-renin Ratio Before Washout of Antihypertensive Drugs in Screening of Primary Aldosteronism\".","authors":"Sybille Fuld, Georgiana Constantinescu, Jacques Lenders","doi":"10.1210/clinem/dgaf139","DOIUrl":"https://doi.org/10.1210/clinem/dgaf139","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558693","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
Multiplatform Molecular Testing as an Adjunct to Fine Needle Aspiration in the Evaluation of Pediatric Thyroid Nodules.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-04 DOI: 10.1210/clinem/dgaf110
Apoorva Aekka, Nicoleta C Arva, He Zhen Ren, Mehul Raval, Jeffrey Rastatter, Sydney Finkelstein, Venkata Arun Timmaraju, Jami L Josefson
{"title":"Multiplatform Molecular Testing as an Adjunct to Fine Needle Aspiration in the Evaluation of Pediatric Thyroid Nodules.","authors":"Apoorva Aekka, Nicoleta C Arva, He Zhen Ren, Mehul Raval, Jeffrey Rastatter, Sydney Finkelstein, Venkata Arun Timmaraju, Jami L Josefson","doi":"10.1210/clinem/dgaf110","DOIUrl":"https://doi.org/10.1210/clinem/dgaf110","url":null,"abstract":"<p><strong>Context: </strong>Molecular analysis of thyroid cytopathology derived from fine needle aspiration (FNA) improves diagnostic yield and informs presurgical treatment stratification of adults with thyroid nodules. Its use is limited in pediatrics but has the potential to guide clinical management for these patients.</p><p><strong>Objective: </strong>To report on the results of oncogene sequencing and microRNA (miRNA)-based risk classification of thyroid FNA cytopathology in a pediatric cohort.</p><p><strong>Design: </strong>Retrospective analysis of archived FNA samples collected from patients seen at Lurie Children's Hospital between October 2020 and March 2023; 39 cases were included in the study.</p><p><strong>Setting: </strong>Referral center.</p><p><strong>Patients: </strong>37 patients ages 7 to 20 years (mean age 13.9 years).</p><p><strong>Interventions: </strong>Interpace Diagnostics®' multiplatform testing including ThyGeNEXT® (oncogene panel) and ThyraMIR® (miRNA risk classifier) was performed on FNA samples. Molecular results were compared to final surgical pathology or repeat FNA results.</p><p><strong>Main outcome measures: </strong>Description of cohort molecular characteristics; test sensitivity and specificity.</p><p><strong>Results: </strong>The most common oncogenic alterations among malignant cases were the BRAFV600E variant (38%), RET-PTC1 fusions (14%), and NRAS variants (14%). Nineteen of 21 malignant samples had positive (high-risk) miRNA expression profiles. Fifteen of 18 benign cases had negative (low-risk) miRNA profiles. Multiplatform molecular testing demonstrated 90.5% sensitivity and 88.9% specificity in detecting malignant pathology.</p><p><strong>Conclusions: </strong>This is the first study to report on the use of combined oncogene and miRNA analysis of FNA cytopathology in a pediatric cohort. Multiplatform molecular testing is a potentially useful adjunct to FNA as a presurgical diagnostic tool in the evaluation of pediatric thyroid nodules.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558695","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
Platelet function and markers of atherothrombotic risk in subjects with parathyroid disorders: a cross-sectional study.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-04 DOI: 10.1210/clinem/dgaf138
Anda Mihaela Naciu, Annunziata Nusca, Andrea Palermo, Francesco Piccirillo, Gaia Tabacco, Alessandra D'Amico, Alfonso Maria Di Tommaso, Giulia Sterpetti, Michele Mattia Viscusi, Federico Bernardini, Maurizio Forte, Luca D'Ambrosio, Giacomo Frati, Cristina Nocella, Nicola Napoli, Roberto Carnevale, Sebastiano Sciarretta, Francesco Grigioni
{"title":"Platelet function and markers of atherothrombotic risk in subjects with parathyroid disorders: a cross-sectional study.","authors":"Anda Mihaela Naciu, Annunziata Nusca, Andrea Palermo, Francesco Piccirillo, Gaia Tabacco, Alessandra D'Amico, Alfonso Maria Di Tommaso, Giulia Sterpetti, Michele Mattia Viscusi, Federico Bernardini, Maurizio Forte, Luca D'Ambrosio, Giacomo Frati, Cristina Nocella, Nicola Napoli, Roberto Carnevale, Sebastiano Sciarretta, Francesco Grigioni","doi":"10.1210/clinem/dgaf138","DOIUrl":"https://doi.org/10.1210/clinem/dgaf138","url":null,"abstract":"<p><strong>Context: </strong>Both primary hyperparathyroidism (PHPT) and chronic hypoparathyroidism (HypoPT) are associated with the onset and development of cardiovascular diseases (CVDs). However, the molecular mechanisms underlying the effects of parathyroid disorders on endothelial dysfunction and platelet aggregation, two main determinants of CVDs, are not completely understood.</p><p><strong>Objective: </strong>To evaluate the effects of PHPT and HypoPT on oxidative stress, endothelial and platelet function.</p><p><strong>Design: </strong>Monocentric cross-sectional study.</p><p><strong>Setting: </strong>Outpatient clinic.</p><p><strong>Patients: </strong>40 subjects with HypoPT, 40 with PHPT and 40 age- and sex-matched control subjects.</p><p><strong>Main outcome measures: </strong>Circulating levels of markers of oxidative stress, endothelial function, and platelet activation, calcium metabolism parameters, flow-mediated vasodilation (FMD) and carotid intimal-media thickness (IMT).</p><p><strong>Results: </strong>HypoPT and PHPT patients showed increased oxidative stress markers as compared to control subjects (p<0.001). Among patients with parathyroid disorders, those with PHPT demonstrated the highest reduction of nitric oxide (p<0.001 versus HypoPT and controls) and FMD (p<0.001 and p=0.001) and a marked increase of IMT (p<0.001 and p=0.001). We also observed an increased platelet aggregation in patients with parathyroid disorders, with the highest values in PHPT patients (p<0.001, PHPT vs controls; p=0.006, HypoPT vs controls; p<0.001, PHPT vs HypoPT), along with increased levels of soluble P selectin and thromboxane B2.</p><p><strong>Conclusions: </strong>PHPT and HypoPT patients have increased markers of atherothrombotic risk due to endothelial and platelet function alterations. Our results suggests that PTH may influence platelet reactivity. Further research is needed to determine if personalized antiplatelet therapy is necessary in subjects with parathyroid disorders.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558696","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
Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-03 DOI: 10.1210/clinem/dgaf131
Georg Semmler, Clemens Baumgartner, Matthäus Metz, Sophie Gensluckner, Hansjörg Habisch, Hannah Hofer, Winfried März, Felix Offner, Andreas Völkerer, Oleksandr Petrenko, Bernhard Wernly, Sophie Draxler-Dworzak, Manuela Neyer, Charlotte Nigmann, Susanne Greber-Platzer, Harald Esterbauer, Tobias Madl, Elmar Aigner, Thomas Scherer, Christian Datz
{"title":"Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.","authors":"Georg Semmler, Clemens Baumgartner, Matthäus Metz, Sophie Gensluckner, Hansjörg Habisch, Hannah Hofer, Winfried März, Felix Offner, Andreas Völkerer, Oleksandr Petrenko, Bernhard Wernly, Sophie Draxler-Dworzak, Manuela Neyer, Charlotte Nigmann, Susanne Greber-Platzer, Harald Esterbauer, Tobias Madl, Elmar Aigner, Thomas Scherer, Christian Datz","doi":"10.1210/clinem/dgaf131","DOIUrl":"https://doi.org/10.1210/clinem/dgaf131","url":null,"abstract":"<p><strong>Context: </strong>Tangier disease (TD) is a rare, autosomal recessive genetic disorder associated with a deficiency in cellular cholesterol export leading to cholesterol accumulation in peripheral tissues. With approximately 150 described cases, the disease is significantly understudied, and the clinical presentation appears to be heterogenous.</p><p><strong>Objective: </strong>To investigate the phenotype and lipid metabolism in TD.</p><p><strong>Design: </strong>Multicenter cohort study.</p><p><strong>Patients: </strong>Four patients with TD.</p><p><strong>Main outcome measures: </strong>Nuclear magnetic resonance (NMR)-based lipidomic and metabolomic analyses were performed in patients with TD and healthy controls.</p><p><strong>Results: </strong>While showing similar laboratory patterns with respect to high-density lipoprotein depletion, the clinical phenotypes of four TD patients were heterogenous with two patients diagnosed at 47 and 72 years having predominantly gastrointestinal and neurological phenotypes. Two previously undescribed variants (c.2418G>A, c.5055.del) were reported.Apart from pathognomonic changes in HDL composition, NMR spectroscopy revealed an increased abundance of VLDL with higher total lipid and cholesterol concentrations, pointing towards an impaired clearance of triglyceride-rich lipoproteins. Increased triglyceride-rich IDL supports impaired hepatic lipase activity, together with a CETP-mediated increase in LDL-triglycerides at higher abundance of large LDL subtypes and decreased small dense LDL.The lipid composition of HDL particles and LDL-1/LDL-4 remained the strongest differentiating factors as compared to healthy controls.</p><p><strong>Conclusions: </strong>Clinical phenotypes of TD can be heterogeneous including gastrointestinal and neurological manifestations. Impaired triglyceride-rich lipoprotein clearance and hepatic lipase activity could be a pathophysiological hallmark of TD.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558694","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
The Efficacy and Safety of Denosumab for Treating Hypercalcemia in Primary Hyperparathyroidism: A Retrospective Study.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-03 DOI: 10.1210/clinem/dgaf107
An Song, Yingyu Chen, Rong Chen, Shuzhong Liu, Liyuan Kou, Jiajia Wang, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang
{"title":"The Efficacy and Safety of Denosumab for Treating Hypercalcemia in Primary Hyperparathyroidism: A Retrospective Study.","authors":"An Song, Yingyu Chen, Rong Chen, Shuzhong Liu, Liyuan Kou, Jiajia Wang, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang","doi":"10.1210/clinem/dgaf107","DOIUrl":"https://doi.org/10.1210/clinem/dgaf107","url":null,"abstract":"<p><strong>Context: </strong>Denosumab is approved for treating hypercalcemia of malignancy, but data on its efficacy for hypercalcemia related to primary hyperparathyroidism (PHPT) are limited.</p><p><strong>Objective: </strong>To compare the efficacy and safety of denosumab with zoledronic acid in PHPT-related hypercalcemia.</p><p><strong>Methods: </strong>We retrospectively collected data from 29 PHPT patients with moderate/severe hypercalcemia (corrected serum calcium [CSC] ≥ 3.0 mmol/L) treated with denosumab (60 or 120 mg; Dmab group) and CSC-matched 29 PHPT patients treated with zoledronic acid (4 mg; ZA group). The primary efficacy outcome was the change of CSC (ΔCa), while secondary outcomes included the response proportion, time to response, and duration of response. Safety data were also collected.</p><p><strong>Results: </strong>Both groups showed significant reductions in CSC levels (Dmab: 3.37±0.37mmol/L to 2.64±0.33mmol/L, p<0.01; ZA: 3.41±0.32mmol/L to 2.57±0.23mmol/L, p<0.01), with similar ΔCa. In the Dmab group, 82.8% (24/29) responded with CSC levels below 3.0 mmol/L, and 72.4% (21/29) achieved complete response (CR, serum CSC less than 2.7mmol/L), comparable to the ZA group. The time to CR was shorter for ZA (3.0 vs. 7.0 days, p<0.01), while Dmab had a longer duration of response (19.0 vs. 13.0 days, p=0.02). Hypocalcemia occurred in 6.9% (2/29, both with Chronic Kidney Disease stage 3b) of Dmab patients, while none in the ZA group.</p><p><strong>Conclusion: </strong>A single 60 mg dose of denosumab effectively reduces serum calcium levels in PHPT patients with moderate/severe hypercalcemia, at least maintaining efficacy for a median of nearly 3 weeks without serious adverse events.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558042","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
Anti-androgen and aromatase inhibitor do not enhance height in children with CAH.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-03 DOI: 10.1210/clinem/dgaf135
Phyllis W Speiser
{"title":"Anti-androgen and aromatase inhibitor do not enhance height in children with CAH.","authors":"Phyllis W Speiser","doi":"10.1210/clinem/dgaf135","DOIUrl":"https://doi.org/10.1210/clinem/dgaf135","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558680","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
A Randomized Crossover Fiber Intervention Study in Prader-Willi Syndrome: Insights into Metabolic and Microbiota Shifts.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-01 DOI: 10.1210/clinem/dgaf142
Qiming Tan, Ye Peng, Edward C Deehan, Flavio T Vieira, Brian Wan Ping Ho, Shima Afhami, Eytan Wine, Karen L Madsen, Catherine J Field, Mohammadreza Pakseresht, Olga Ilkayeva, Christopher B Newgard, Jens Walter, Hein Min Tun, Andrea M Haqq
{"title":"A Randomized Crossover Fiber Intervention Study in Prader-Willi Syndrome: Insights into Metabolic and Microbiota Shifts.","authors":"Qiming Tan, Ye Peng, Edward C Deehan, Flavio T Vieira, Brian Wan Ping Ho, Shima Afhami, Eytan Wine, Karen L Madsen, Catherine J Field, Mohammadreza Pakseresht, Olga Ilkayeva, Christopher B Newgard, Jens Walter, Hein Min Tun, Andrea M Haqq","doi":"10.1210/clinem/dgaf142","DOIUrl":"https://doi.org/10.1210/clinem/dgaf142","url":null,"abstract":"<p><strong>Context: </strong>While increased fiber intake may benefit appetite and metabolism in the general population, its effects in individuals with Prader-Willi Syndrome (PWS), a condition characterized by hyperphagia, obesity and metabolic dysregulation, remain to be explored.</p><p><strong>Objectives: </strong>This study assessed the effects of a fiber intervention on hyperphagia, metabolic health, and gut microbiota in individuals with PWS, and explored associations between changes in health markers and shifts in microbiota.</p><p><strong>Methods: </strong>Participants received either a high-dose fiber intervention (35g/day) or a control for 3 weeks. Following a washout period of 4 to 8 weeks, participants switched treatments for another 3 weeks. Fecal (bacterial 16S ribosomal RNA) and blood (immunometabolic markers, targeted metabolomics) samples were collected before and after each treatment.</p><p><strong>Results: </strong>Fourteen participants (with a median age of 13.6 years, 8 [57.1%] were female) reported high tolerance to the fiber intervention. While it did not significantly alter hyperphagia or key metabolic markers, the fiber intervention led to shifts in gut microbiota diversity and increased the abundance of beneficial bacteria, such as Bifidobacterium longum and Faecalibacterium prausnitzii. Additionally, it altered fecal and serum metabolites, including a decrease in branched-chain fatty acids and an increase in serum C4-OH acylcarnitine.</p><p><strong>Conclusion: </strong>While this study did not observe significant changes in primary or secondary endpoints, it suggests that a short-term high-fiber intervention may induce beneficial shifts in gut microbiota and microbial metabolites in individuals with PWS. Further research is warranted to investigate the long-term effects and potential therapeutic applications of fiber interventions in PWS.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558678","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
Clinical phenotype of Graves' disease in Autoimmune Polyglandular Syndrome or as isolated disease: the GRAPHE study.
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-03-01 DOI: 10.1210/clinem/dgaf144
Elisa Gatta, Ilenia Pirola, Aurora Gotti, Micaela Fredi, Pietro Bellini, Francesco Dondi, Riccardo Morandi, Claudio Casella, Francesco Bertagna, Franco Franceschini, Mario Rotondi, Carlo Cappelli
{"title":"Clinical phenotype of Graves' disease in Autoimmune Polyglandular Syndrome or as isolated disease: the GRAPHE study.","authors":"Elisa Gatta, Ilenia Pirola, Aurora Gotti, Micaela Fredi, Pietro Bellini, Francesco Dondi, Riccardo Morandi, Claudio Casella, Francesco Bertagna, Franco Franceschini, Mario Rotondi, Carlo Cappelli","doi":"10.1210/clinem/dgaf144","DOIUrl":"https://doi.org/10.1210/clinem/dgaf144","url":null,"abstract":"<p><strong>Context: </strong>Graves' disease can occur as an isolated condition or as part of an autoimmune polyglandular syndrome; there are no data regarding the differences in phenotype between these two forms.</p><p><strong>Objective: </strong>To assess differences in clinical presentation, complications, and outcomes in patients with isolated Graves' disease compared to those in whom Graves' disease is part of an autoimmune polyglandular syndrome.</p><p><strong>Methods: </strong>GRAPHE study is a retrospective observational study. The medical records of all patients with Graves' disease diagnosed and regularly followed at outpatient clinics for Endocrinology, Nuclear Medicine and Clinical Surgery, from January 1, 2010, to June 30, 2024 were retrieved. All the patients were followed by the same Endocrinologists and treated in accordance with existing guidelines.</p><p><strong>Results: </strong>567 patients (77% women) were enrolled. The patients were divided into three different groups based of Graves' disease phenotypes: subjects affected by isolated Graves' disease (Isolated GD); patients that developed autoimmune polyglandular syndrome (GD1-APS), and patients with autoimmune polyglandular syndrome that developed Graves' disease during follow-up (GD2-APS). The three groups were superimposable for gender (p = 0.086), fT4 (p=0.899), fT3 (p=0.434), TRAb titers (p = 0.882), and thyroid volume (p=0.840) at disease onset. Isolated GD patients exhibited Graves' orbitopathy more frequently (p<0.001), a higher rate of definitive therapy (p<0.001) and shorter time between disease onset and definitive therapy (p<0.001) compared to the GD1-APS and GD2-APS patients.</p><p><strong>Conclusions: </strong>The results of the present study show that, despite similar clinical and biochemical phenotype at presentation, a more severe clinical course characterizes isolated GD patients compared to those whose disease is a feature of autoimmune polyglandular syndrome.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558688","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}
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