Hasil untuk "Diseases of the endocrine glands. Clinical endocrinology"

Kamber Kaşali, Özgür Fırat Özpolat, Merve Ülkü et al.

Objective: Artificial intelligence (AI) is increasingly used in medicine, including pediatric endocrinology. AI models have the potential to support clinical decision-making, patient education, and guidance. However, their accuracy, reliability, and effectiveness in providing medical information and recommendations remain unclear. The aim was to evaluate and compare the performance of four AI models, ChatGPT, Bard, Microsoft Copilot, and Pi, in answering frequently asked questions related to pediatric endocrinology. Methods: Nine questions commonly asked by parents regarding short stature in pediatric endocrinology were selected, based on literature reviews and expert opinions. These questions were posed to four AI models in both Turkish and English. The AI-generated responses were evaluated by 10 pediatric endocrinologists using a 12-item Likert-scale questionnaire assessing medical accuracy, completeness, guidance, and informativeness. Statistical analyses, including Kruskal-Wallis and post-hoc tests, were conducted to determine significant differences between AI models. Results: Bard outperformed other models in guidance and recommendation categories, excelling in directing users to medical consultation. Microsoft Copilot demonstrated strong medical accuracy but lacked guidance capacity. ChatGPT showed consistent performance in knowledge dissemination, making it effective for patient education. Pi scored the lowest in guidance and recommendations, indicating limited applicability in clinical settings. Significant differences were observed between AI models (p<0.05), particularly in completeness and guidance-related categories. Conclusion: The present study highlights the varying strengths and weaknesses of AI models in an area of pediatric endocrinology. While Bard was effective in guidance, Microsoft Copilot excelled at accuracy, and ChatGPT was informative. Future AI improvements should focus on balancing accuracy and guidance to enhance clinical decision-support and patient education. Tailored AI applications may optimize the role of AI in specialized medical fields.

Abdulhameed Alhazmi, Abdulhameed Alhazmi, Carel W. le Roux et al.

Wenhua Bai, Zheng Zhu

Metabolic dysfunction-associated steatotic liver disease (MASLD) has evolved from a hepatic-centric condition to a systemic metabolic disorder, with multisystem complications driving clinical outcomes. This review comprehensively examines the pathogenesis and extrahepatic manifestations of MASLD, focusing on interorgan crosstalk. We first delineate the hepatic progression from steatosis to fibrotic metabolic dysfunction-associated steatohepatitis (MASH), emphasizing lipotoxicity, mitochondrial dysfunction, and inflammatory cascades. Subsequently, we analyze key extrahepatic axes (1): the liver-brain axis, where neuroinflammation and cognitive impairment are linked to hepatic metabolic disturbances (2); the gut-liver axis, highlighting roles of gut microbiota dysbiosis and intestinal permeability in disease progression; and (3) the liver-kidney axis, exploring shared fibrotic mechanisms and functional decline. Common pathways-including chronic inflammation, oxidative stress, and immune-metabolic dysregulation-underpin these systemic complications. Therapeutically, we advocate a shift from isolated liver-targeted approaches to integrated multisystem strategies. This review underscores the imperative to reconceptualize MASLD as a systemic disease, necessitating collaborative efforts to refine diagnostic frameworks and therapeutic paradigms for improving patient outcomes.

Kelly L. Wentworth, Jeayoung Park, Xiaobing Yu et al.

Fibrous dysplasia (FD) is a rare, benign skeletal disorder characterized by expansile, fibrotic bone lesions that replace normal bone, resulting in decreased bone strength, pain, and fractures. The clinical presentation of FD can vary widely, complicating the diagnosis. FD can manifest as monostotic (single bone) or polyostotic (multiple bones) disease and can occur independently or as part of McCune–Albright Syndrome (MAS), a genetic condition that includes café-au-lait skin hyperpigmentation and endocrine abnormalities. FD/MAS arises from activating mutations in the GNAS gene, leading to constitutive activation of the G s α protein and elevated cAMP levels. Despite understanding the genetic cause of FD, effective treatments remain limited. Current management strategies focus primarily on symptom control following the most recent comprehensive guidelines published in 2019. This review highlights emerging pharmacologic treatments, including denosumab, a monoclonal antibody that has shown promise in reducing lesion size and pain in FD patients, and burosumab, a monoclonal antibody targeting FGF23, which reduces renal phosphate wasting and osteomalacia in FD patients. In addition, we review updates in advanced genetic testing techniques, such as cell-free DNA and direct lesion sampling for next-generation sequencing, which are promising methods for improving the diagnostic accuracy of FD. Finally, multimodal approaches for pain management in FD, including nonsteroidal anti-inflammatory drugs, bisphosphonates, and novel agents like cannabinoids, are being used alongside the traditional approaches with physical therapy and psychological support. Ongoing research aims to enhance our understanding of FD pathogenesis and develop targeted therapies that could potentially reverse disease progression. This review underscores the importance of implementing a multidisciplinary approach in the management of FD/MAS and finding new therapeutic approaches that will help address the diverse manifestations and improve the quality of life for patients.

Ignacio Jiménez Hernando, Laura González Fernández, Marta Pérez Noguero

Iatrogenic hypoparathyroidism is a serious complication that can arise from neck surgery, predominantly during thyroidectomy, parathyroidectomy, and laryngectomy; it can be transient or permanent, requiring lifelong treatment. Early detection and treatment are crucial to prevent severe hypocalcemia, which is potentially fatal. This case report describes a 59-year-old male with a history of well-differentiated squamous cell carcinoma of the vocal cords who developed severe postoperative hypoparathyroidism following total laryngectomy with right hemithyroidectomy. Despite initial treatment with cholecalciferol by nasogastric tube, the patient experienced recurrent severe hypocalcemia, requiring intravenous administration of calcitriol due to his inability to swallow. This case highlights the risk factors for triggering postoperative hypoparathyroidism, such as previous surgery or radiotherapy in the cervical region, underlines the importance of careful monitoring of postoperative hypoparathyroidism and proposes the use of intravenous calcitriol as an effective strategy in acute treatment when oral administration is not feasible.

Łukasz Krzystek, Karol P. Sagan, Elżbieta Andrysiak-Mamos et al.

Ectopic adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (EAS) is a rare complication of neuroendocrine tumors (NETs). Severe hypercortisolism (SH) requires urgent medical intervention due to its life-threatening consequences. We report a 74-year-old female patient with an ACTH-secreting pancreatic NET (pNET) who presented with rapidly progressive cognitive decline, muscle weakness, severe hypokalemia, and hyperglycemia. Laboratory evaluation confirmed ACTH-dependent Cushing’s syndrome with loss of diurnal cortisol rhythm and panhypopituitarism. Surgical treatment was contraindicated because of significant comorbidities. The initial management included intravenous etomidate infusion. Subsequently, osilodrostat was introduced as long-term oral therapy. Marked clinical and hormonal improvements were observed, including the normalization of potassium and cortisol levels, resolution of neuropsychiatric symptoms, and restoration of mobility. After 19 months of osilodrostat therapy, endoscopic ultrasound-guided ethanol ablation of the pancreatic lesion was performed, and medical therapy was discontinued. This case demonstrates the effectiveness of dual steroidogenesis blockade with etomidate and osilodrostat in both the acute and chronic management of severe ectopic Cushing’s syndrome due to pNET. It also highlights the role of endoscopic ethanol ablation as a minimally invasive curative option for patients who are unfit for surgery.

Yuanyuan Li, Qianwen Peng, Jia Shang et al.

Taurine, a sulfur-containing amino acid, has a wide range of biological effects, such as bile salt formation, osmotic regulation, oxidative stress inhibition, immunomodulation and neuromodulation. Taurine has been proved to be synthesized and abundant in male reproductive organs. Recently, accumulating data showed that taurine has a potential protective effect on reproductive function of male animals. In physiology, taurine can promote the endocrine function of the hypothalamus-pituitary-testis (HPT) axis, testicular tissue development, spermatogenesis and maturation, delay the aging of testicular structure and function, maintain the homeostasis of the testicular environment, and enhance sexual ability. In pathology, taurine supplement may be beneficial to alleviate pathological damage of male reproductive system, including oxidative damage of sperm preservation in vitro, testicular reperfusion injury and diabetes -induced reproductive complications. In addition, taurine acts as a protective agent against toxic damage to the male reproductive system by exogenous substances (e.g., therapeutic drugs, environmental pollutants, radiation). Related mechanisms include reduced oxidative stress, increased antioxidant capacity, inhibited inflammation and apoptosis, restored the secretory activity of the HPT axis, reduced chromosomal variation, enhanced sperm mitochondrial energy metabolism, cell membrane stabilization effect, etc. Therefore, this article reviewed the protective effect of taurine on male reproductive function and its detailed mechanism, in order to provide reference for further research and clinical application.

Juerong Lu, Jintang Liao, Yunhao Chen et al.

ObjectiveWe aimed to identify the clinical factors associated with lymph node metastasis (LNM) based on ultrasound characteristics and clinical data, and develop a nomogram for personalized clinical decision-making.MethodsA retrospective analysis was performed on 252 patients with papillary thyroid carcinoma (PTC). The patient’s information was subjected to univariate and multivariate logistic regression analyses to identify risk factors. A nomogram to predict LNM was established combining the risk factors. The performance of the nomogram was evaluated using receiver operating characteristic (ROC) curve, calibration curve, cross-validation, decision curve analysis (DCA), and clinical impact curve.ResultsThere are significant differences between LNM and non-LNM groups in terms of age, sex, tumor size, hypoechoic halo around the nodule, thyroid capsule invasion, lymph node microcalcification, lymph node hyperechoic area, peak intensity of contrast (PI), and area under the curve (AUC) of the time intensity curve of contrast (P&lt;0.05). Age, sex, thyroid capsule invasion, lymph node microcalcification were independent predictors of LNM and were used to establish the predictive nomogram. The ROC was 0.800, with excellent discrimination and calibration. The predictive accuracy of 0.757 and the Kappa value was 0.508. The calibration curve, DCA and calibration curve demonstrated that the prediction model had excellent net benefits and clinical practicability.ConclusionAge, sex, thyroid capsule invasion, and lymph node microcalcification were identified as significant risk factors for predicting LNM in patients with PTC. The visualized nomogram model may assist clinicians in predicting the likelihood of LNM in patients with PTC prior to surgery.

Darran Mc Donald, Rachel Katherine Crowley

We thank Bi and colleagues for their recent case report ‘Potential pitfalls in diagnosis of immunotherapy-induced hypothalamic–pituitary–adrenal axis abnormalities: a clinical case’ (Bi et al. 2022). It provides important lessons on the investigation and management of immunotherapy-related hypophysitis, which is an evolving area within endocrinology and oncology. As part of our work, in a hospital whose oncology service is the Irish national referral centre for several malignancies, we manage ever-increasing numbers of immunotherapy-related hypophysitis and would like to share some further observations.

Xiaoyu Zhang, Huijie Xiao, Shaojie Fu et al.

BackgroundPatients with diabetic kidney disease (DKD) often have gastrointestinal dysfunction such as inflammatory bowel disease (IBD). This study aims to investigate the genetic mechanism leading to IBD in DKD patients through data mining and bioinformatics analysis.MethodsThe disease-related genes of DKD and IBD were searched from the five databases of OMIM, GeneCards, PharmGkb, TTD, and DrugBank, and the intersection part of the two diseases were taken to obtain the risk genes of DKD complicated with IBD. A protein–protein interaction (PPI) network analysis was performed on risk genes, and three topological parameters of degree, betweenness, and closeness of nodes in the network were used to identify key risk genes. Finally, Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis were performed on the risk genes to explore the related mechanism of DKD merging IBD.ResultsThis study identified 495 risk genes for DKD complicated with IBD. After constructing a protein–protein interaction network and screening for three times, six key risk genes were obtained, including matrix metalloproteinase 2 (MMP2), hepatocyte growth factor (HGF), fibroblast growth factor 2 (FGF2), interleukin (IL)-18, IL-13, and C–C motif chemokine ligand 5 (CCL5). Based on GO enrichment analysis, we found that DKD genes complicated with IBD were associated with 3,646 biological processes such as inflammatory response regulation, 121 cellular components such as cytoplasmic vesicles, and 276 molecular functions such as G-protein-coupled receptor binding. Based on KEGG enrichment analysis, we found that the risk genes of DKD combined with IBD were associated with 181 pathways, such as the PI3K-Akt signaling pathway, advanced glycation end product–receptor for AGE (AGE-RAGE) signaling pathway and hypoxia-inducible factor (HIF)-1 signaling pathway.ConclusionThere is a genetic mechanism for the complication of IBD in patients with CKD. Oxidative stress, chronic inflammatory response, and immune dysfunction were possible mechanisms for DKD complicated with IBD.

Jiayue Liu, Jiayue Liu, Jiayue Liu et al.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. Its clinical characteristics are mainly oligo-ovulation or anovulation, hyperandrogenemia (HA) and insulin resistance (IR). PCOS is considered to be one of the main causes of infertility in women of childbearing age, and its pathogenesis is still unclear. Intestinal flora, known as the “second genome” of human beings, is closely related to metabolic diseases, immune diseases and infectious diseases. At the same time, mounting evidence suggests that intestinal flora can regulate insulin synthesis and secretion, affect androgen metabolism and follicular development, and is involved in the occurrence of chronic inflammation and obesity. The imbalance of intestinal flora is caused by the abnormal interaction between intestinal flora and host cells caused by the change of intestinal microbial diversity, which is related to the occurrence and development of PCOS. The adjustment of intestinal flora may be a potential direction for the treatment of PCOS.

Yuanyuan Gao, Yuanyuan Gao, Baofeng Xu et al.

Our objective was to analyze the correlation between serum uric acid (SUA) levels and carotid intima-media thickness (CIMT) and explore the relationship between SUA and carotid atherosclerosis in different glucose metabolism patterns. A total of 614 patients were enrolled in this case-control study, including 406 in the normouricemia group and 208 in the hyperuricemia group. The two groups were each divided into three groups according to fasting blood glucose (FBG) level: normal, impaired fasting glucose (IFG), and diabetes mellitus (DM). CIMT and the CIMT thickening rate in the hyperuricemia group were significantly higher than those in the normouricemia group: 0.17 (0.11–0.24) cm vs. 0.12 (0.08–0.15) cm and 73.56% vs. 51.97% (p &lt; 0.001). Pearson’s correlation analysis showed that age, systolic blood pressure (SBP), diastolic blood pressure, FBG, triglyceride, SUA, creatinine, and blood urea nitrogen were positively correlated with CIMT, whereas high-density lipoprotein cholesterol and total cholesterol were negatively correlated with CIMT. Multiple linear regression analysis showed that age, SUA, FBG, and SBP were independent factors that affected CIMT. Furthermore, age and SBP were independent factors in the normouricemia group, and FBG was an independent factor that affected CIMT in the hyperuricemia group (p &lt; 0.05). In the hyperuricemia group, CIMT in the DM group was significantly higher than that in the normal group [0.20 (0.14–0.25)cm vs. 0.15 (0.1–0.25); p &lt; 0.05], and the CIMT thickening rate in the DM group was significantly higher than those in the IFG and normal groups (90.38% vs. 78.38%, 90.38% vs. 65.81%; p &lt; 0.05). The ROC curve analysis showed that uric acid combined with age, SBP, and FBG had the highest area under the curve (AUC) for predicting CIMT thickening [0.855 (95% confidence interval (CI): 0.804–0.906)], followed by uric acid combined with FBG [AUC: 0.767 (95% CI: 0.726–0.808)]. In conclusion, SUA was closely associated with an increase in CIMT in patients with specific FBG metabolic patterns and may be an independent risk factor for carotid atherosclerosis. SUA, especially in combination with other factors (such as age, SBP, FBG), may serve as a specific model to help predict the incidence of CIMT thickening. Clinical Trial Registration:http://www.chictr.org.cn, identifier ChiCTR2000039124.

Hanzhou Li, Yuansong Wang, Xiuhai Su et al.

San-Huang-Yi-Shen capsule (SHYS) has been used in the treatment of diabetic kidney disease (DKD) in clinics. However, the mechanism of SHYS on DKD remains unclear. In this study, we used a high-fat diet combined with streptozocin (STZ) injection to establish a rat model of DKD, and different doses of SHYS were given by oral gavage to determine the therapeutic effects of SHYS on DKD. Then, we studied the effects of SHYS on PINK1/Parkin-mediated mitophagy and the activation of NLRP3 inflammasome to study the possible mechanisms of SHYS on DKD. Our result showed that SHYS could alleviate DKD through reducing the body weight loss, decreasing the levels of fasting blood glucose (FBG), and improving the renal function, insulin resistance (IR), and inhibiting inflammatory response and oxidative stress in the kidney. Moreover, transmission electron microscopy showed SHYS treatment improved the morphology of mitochondria in the kidney. In addition, western blot and immunoflourescence staining showed that SHYS treatment induced the PINK1/Parkin-mediated mitophagy and inhibited the activation of NLRP3 signaling pathway. In conclusion, our study demonstrated the therapeutic effects of SHYS on DKD. Additionally, our results indicated that SHYS promoted PINK1/Parkin-mediated mitophagy and inhibited NLRP3 inflammasome activation to improve mitochondrial injury and inflammatory responses.

Alexandro J. Martagón-Rosado

La diabetes mellitus tipo 2 continúa siendo una pandemia sin aparente solución. Estudios realizados en las últimas dos décadas han encontrado una relación importante entre la epigenética y la diabetes mellitus tipo 2, determinando que el ambiente en el que el individuo se desarrolla (incluso en la etapa prenatal) tiene una influencia importante en el futuro desarrollo de diversas patologías. La metilación del ADN, la modificación de histonas y los ARN no codificantes son los principales reguladores de la epigenética. A diferencia del genoma, el epigenoma es potencialmente reversible y se puede corregir por medio de diferentes intervenciones que podrían modificar el curso de esta enfermedad. A pesar de lo anterior, la epigenética presenta importantes limitantes que retrasan su estudio; aunado a los estudios genéticos, la proteómica y la metabolómica, la epigenética es una alternativa más para la identificación de biomarcadores que permitan una predicción para el desarrollo de la diabetes mellitus tipo 2.

Pedro Aro, Solange Chacon, José Aguilar

Introduction: skin ulcers can generate serious complications in people with diabetes, which can lead to partial or total amputation of the compromised limb. Platelet-rich gel is being used frequently to promote the healing of a skin ulcer. However, the clinical outcomes in healing are often variable because the factors that influence this procedure are not yet fully understood. Objective: to evaluate the effect of the platelet-rich xenogenic gel on the healing of an induced skin ulcer in a model in rats with type 2 diabetes (T2D). Materials and methods: 12 Sprague dawley rats were used and divided into 3 groups of 4 rats with an induced 15mm skin ulcer each. Group 1 (with T2D): platelet-rich xenogenic gel was applied. Group 2 (rats with T2D) and group 3 (rats without T2D) applied saline and a dressing. The wound surface was measured on days 0, 20, 29 and 33 using a digital micrometer and photographs.

Baris Akinci, Rasimcan Meral, Diana Rus et al.

A patient with atypical partial lipodystrophy who had a transient initial response to metreleptin experienced acute worsening of her metabolic state when neutralizing antibodies against metreleptin appeared. Because her metabolic status continued to deteriorate, a therapeutic trial with melanocortin-4 receptor agonist setmelanotide, that is believed to function downstream from leptin receptor in the leptin signaling system, was undertaken in an effort to improve her metabolic status for the first time in a patient with lipodystrophy. To achieve this, a compassionate use (investigational new drug application; IND) was initiated (NCT03262610). Glucose control, body fat by dual-energy X-ray absorptiometry and MRI, and liver fat by proton density fat fraction were monitored. Daily hunger scores were assessed by patient filled questionnaires. Although there was a slight decrease in hunger scales and visceral fat, stimulating melanocortin-4 receptor by setmelanotide did not result in any other metabolic benefit such as improvement of hypertriglyceridemia or diabetes control as desired. Targeting melanocortin-4 receptor to regulate energy metabolism in this setting was not sufficient to obtain a significant metabolic benefit. However, complex features of our case make it difficult to generalize these observations to all cases of lipodystrophy. It is still possible that melanocortin-4 receptor agonistic action may offer some therapeutic benefits in leptin-deficient patients.

V.O. Shidlovsky, O.V. Shidlovsky, M.I. Sheremet et al.

Background. The result of surgical treatment of goiter with severe thyrotoxicosis may be an improvement in general condition and physical activity, a decrease and/or elimination of clinical manifestations of thyrotoxic cardiomyopathy (effective treatment), or a worsening of the general condition (ineffective treatment). From the standpoint of such approach, the long­term results of surgical treatment of toxic goiter with severe thyrotoxicosis have not been sufficiently studied. The purpose was to investigate the long­term effects of surgical treatment of patients with toxic goiter and severe thyrotoxicosis with a priority study of changes in cardiac activity and physical activity. Materials and methods. Studies have been carried out in 123 surgically treated patients with severe toxic goiter. Patients’ age ranged from 21 to 74 years. The duration of thyrotoxicosis was from 18 to 74 months. Indications for surgical treatment were frequent relapses of thyrotoxicosis, progression of thyrotoxic cardiomyopathy against the background of thyrostatic therapy with the development of heart rhythm disorders and heart failure. Structural and functional changes in the heart according to B­mode echocardiography, cardiac disorders according to the results of daily Holter monitoring, physical activity according to a six­minute walk test have been studied. Long­term effects of treatment have been evaluated by gradation developed by us: good, satisfactory, unsatisfactory result and ineffective treatment. Results. It has been found that the surgical treatment of patients with toxic goiter and severe thyrotoxicosis allows eliminating thyrotoxicosis and in some patients — heart rhythm disorders, reducing the severity of clinical manifestations of thyrotoxic cardiomyopathy, improving physical activity and general condition. Studies have shown that the results of surgical treatment depended on the severity of heart rhythm disorders and heart failure, i.e. the effects of thyrotoxicosis, which develop against the background of thyrotoxic cardiomyopathy. Good and satisfactory results of surgical treatment have been obtained in 55 (44.7 %) cases, unsatisfactory results — in 40 (32.5 %) patients, and the treatment was ineffective in 28 (22.8 %) persons. Conclusions. Surgical treatment of patients with toxic goiter and severe thyrotoxicosis helps achieve positive results: to eliminate thyrotoxicosis, reduce the severity of clinical manifestations of thyrotoxic cardiomyopathy, improve cardiac activity, physical activity and general condition of patients. The long­term results of surgical treatment of patients with severe thyrotoxicosis depend on the duration of the disease, drug therapy of thyrotoxicosis and the age of the patients. With an increase in these values, treatment results deteriorate. Among existing indications for the surgical treatment of patients with toxic goiter and manifestations of severe thyrotoxicosis, the first and most important one is the presence of thyrotoxic cardiomyopathy with heart rhythm disorders. The universal indicator for predicting long­term results of surgical treatment of patients with toxic goiter is the distance covered during a six­minute walk test.

Andries Kalsbeek, Eric Fliers

Dae Ho Lee