Endocrine最新文献

Purpose: Painful diabetic peripheral neuropathy (DPN) is a common complication in patients with diabetes. It is associated with a poor quality of life and high costs of care. This study investigated the impact of painful DPN on healthcare costs and resource utilization.

Methods: This was a retrospective analysis of administrative claims of adult patients with diabetes (type 1 or 2) from Optum's de-identified Clinformatics® Data Mart Database. Patients were assigned to four cohorts by presence of DPN and pain severity, based on diagnoses and prescription patterns in a one-year baseline. All-cause and diabetes-associated costs were calculated for the year following the index DPN diagnosis. Risk factors associated with presence of severely painful DPN were evaluated.

Results: Relative to those without DPN, patients who had DPN without pain, painful DPN (PDPN), or severe PDPN incurred respective increases of $3,093, $9,349, and $20,887 in average annual all-cause costs. More than half of costs from painful/severe DPN were for prescriptions and inpatient hospitalization. Severe PDPN was associated with elevated odds of diabetic amyotrophy (OR: 8.09; 95% CI: 6.84-9.56), diabetic foot ulcers (OR: 6.54, 95% CI: 6.32-6.76), and loss of mobility (OR: 2.54, 95% CI: 2.48-2.60), among other complications.

Conclusions: Painful DPN is associated with higher healthcare costs and resource utilization, and a greater risk of debilitating conditions that limit quality of life. Future research should focus on better treatment options and more aggressive pain management strategies to reduce the negative impacts of DPN.

Purpose: To evaluate the potential benefit of adding a low frequency vascular probe to the conventional pre-operative ultrasound examination of patients with primary hyperparathyroidism.

Methods: A prospective cohort of 136 patients with primary hyperparathyroidism underwent a conventional ultrasound examination of the neck with a high frequency ( > 10 MHz) linear ultrasound probe, followed by an add-on examination with a low frequency vascular probe. For each ultrasound probe, and for every potential parathyroid lesion, the presence of a feeding vessel, a polar placement of the feeding vessel, and the presence of a vascular arch was recorded.

Results: A total of 146 ultrasound lesions were evaluated for vascularity by each probe. For both ultrasound probes, the odds of a hyperfunctioning parathyroid gland being correctly identified increased with the number of visible vascular features. The vascular probe identified a significantly higher number of vascular features among ultrasound true positive glands compared with the conventional probe (p < 0.0001). Among histopathologically verified pathological parathyroid glands, the vascular probe identified 20% more feeding vessels, 27% more polar placements of the feeding vessel, and 65% more vascular arches than the high frequency probe. However, the diagnostic confidence score for true positive glands did not differ significantly between the probes (p = 0.11).

Conclusion: The addition of a low frequency vascular probe increases the number of visible vascular features in hyperfunctioning parathyroid glands, which facilitates their preoperative detection. Whether or not this can increase the diagnostic confidence of ultrasound examiners has yet to be substantiated.

Purpose: Cardiometabolic disorders are non-classical complications of hypercalcemic primary hyperparathyroidism (HC-PHPT), but whether this risk connotes normocalcemic PHPT (NC-PHPT) remains to be elucidated. We investigated cardiometabolic alterations in both forms of PHPT, looking for their association with indices of disease activity.

Methods: Patients with HC-PHPT (n = 17), NC-PHPT (n = 17), and controls (n = 34) matched for age, sex, and BMI were assessed for glucose, lipid, blood pressure alterations, and history of cardiovascular events to perform a case-control study at an ambulatory referral center for Bone Metabolism Diseases.

Results: NC-PHPT, in comparison to controls, showed similar glucose (mean ± SD, 88 ± 11 vs 95 ± 22 mg/dl), total cholesterol (199 ± 25 vs 207 ± 36 mg/dl), and systolic blood pressure levels (SBP, 132 ± 23 vs 132 ± 19 mmHg), together with a comparable frequency of glucose alterations (6% vs 9%), lipid disorders (41% vs 50%) and hypertension (53% vs 59%, p = NS for all comparisons). Conversely, all these abnormalities were more prevalent in HC-PHPT vs controls (p < 0.05). When compared to NC-PHPT, HC-PHPT showed higher glucose (113 ± 31 mg/dl), total cholesterol (238 ± 43 mg/dl), and SBP levels (147 ± 15 mmHg) as well as an increased frequency of glucose (41%) and lipid alterations (77%) and a higher number of cardiovascular events (18% vs 0%, p < 0.05 for all comparisons). Among indices of PHPT activity, calcium levels displayed a significant correlation with glucose (R = 0.46) and SBP values (R = 0.60, p < 0.05).

Conclusion: NC-PHPT is not associated with cardiovascular alterations. The predominant pathogenetic role of hypercalcemia in the development of cardiometabolic disorders could account for the absence of such alterations in NC-PHPT.

Background: Calcitonin is a sensitive marker for medullary thyroid carcinoma (MTC) diagnosis and postsurgical follow-up. This study aimed to define the gender and tumor size-specific calcitonin cutoff values for diagnosing MTC.

Methods: This retrospective study recruited 95 MTC patients and 10,523 non-MTC patients who underwent thyroid nodule surgery at Zhongshan Hospital between January 2015 and June 2023. Receiver operating characteristic (ROC) curves were used to assess calcitonin cutoff values for diagnosing MTC.

Results: Calcitonin levels in non-MTC patients were influenced by gender, CKD stage and age, with gender being the highest ranked predictor. In MTC patients, calcitonin levels were associated with tumor diameter, lymph node metastasis, and TNM stage. In the entire study population, calcitonin cutoff values to diagnose MTC were 17.75 pg/mL for males (sensitivity: 97.60%, specificity: 99.40%) and 7.15 pg/mL for females (sensitivity: 94.34%, specificity: 99.22%). In patients with a thyroid nodule diameter ≤10 mm, the calcitonin cutoff values to diagnose MTC were 17.50 pg/mL for males (sensitivity: 95.00%, specificity: 99.27%) and 7.15 pg/mL for females (sensitivity: 90.91%, specificity: 99.04%). In patients with a thyroid nodule diameter >10 mm, the calcitonin cutoff values to diagnose MTC were 104.80 pg/mL for males (sensitivity: 100.00%, specificity: 100.00%) and 32.60 pg/mL for females (sensitivity: 96.77%, specificity: 100.00%).

Conclusion: We have identified the gender and tumor size-specific cutoff values for the diagnosis of MTC. Cutoff values based on gender and tumor diameter may help to improve the accuracy of preoperative diagnosis of MTC, which is worth to be verified by future studies.

Purpose: Multiple Endocrine Neoplasia (MEN) is a group of familial cancer syndromes that encompasses several types of endocrine tumors differentiated by genetic mutations in RET, MEN1 and CDKN1B genes. Accurate diagnosis of MEN subtypes can thus be performed through genetic testing. However, MEN variants remain largely understudied in Indian populations. Additionally, few dedicated resources to understand these disorders currently exist.

Methods: Using the gold-standard ACMG/AMP guidelines, we systematically classified variants reported across the three genes in the IndiGen dataset, and established the genetic epidemiology of MEN in the Indian population. We further classified ClinVar and Mastermind variants and compiled all into a database. Finally, we designed a multiplex primer panel for rapid variant identification.

Results: We have established the genetic prevalence of MEN as the following: 1 in 1026 individuals is likely to be afflicted with MEN linked with pathogenic RET mutations. We have further created the MAPVar database containing 3280 ACMG-classified variants freely accessible at: https://clingen.igib.res.in/MAPVar/ . Finally, our NGS primer panel covers 33 exonic regions across two pools through 38 amplicons with a total amplified region of 65 kb.

Conclusion: Our work establishes that MEN is a prevalent disorder in India. The rare nature of Indian variants underscores the need of genomic and functional studies to establish a more comprehensive variant landscape. Additionally, our panel offers a means of cost-effective genetic testing, and the MAPVar database a ready reference to aid in a better understanding of variant pathogenicity in clinical as well as research settings.

Purpose: Thyroid eye disease (TED) is the most common orbital disease in adults. Ocular motility restriction is the primary complaint of patients, while its evaluation is quite difficult. The present study aimed to introduce an artificial intelligence (AI) model based on orbital computed tomography (CT) images for ocular motility score.

Methods: A total of 410 sets of CT images and clinical data were obtained from the hospital. To build a triple classification predictive model for ocular motility score, multiple deep learning models were employed to extract features of images and clinical data. Subgroup analyses based on pertinent clinical features were performed to test the efficacy of models.

Results: The ResNet-34 network outperformed Alex-Net and VGG16-Net in prediction of ocular motility score, with the optimal accuracy (ACC) of 0.907, 0.870, and 0.890, respectively. Subgroup analyses indicated no significant difference in ACC between active or inactive phase, functional visual field diplopia or peripheral visual field diplopia (p > 0.05). However, in the gender subgroup, the prediction model performed more accurately in female patients than males (p = 0.02).

Conclusion: In conclusion, the AI model based on CT images and clinical data successfully realized automatic scoring of ocular motility in TED patients. This approach potentially enhanced the efficiency and accuracy of ocular motility evaluation, thus facilitating clinical application.

Background: Restrictive measures due to the Covid-19 pandemic strongly impacted lifestyle and daily behaviour. The purpose of this longitudinal retrospective study was to investigate short-term and long-term effects of Covid-19 pandemic on physical activity and eating habits of the Italian population investigating three time periods: pre-, during- and post-lockdown.

Methods: A sample of 2773 adults recruited through social media provided data by an online survey administered from July to October 2023. Participants completed the International Physical Activity Questionnaire-Short Form (IPAQ-SF), the Mediterranean Diet Adherence Screener (MEDAS) and provided information about eating habits, socio-demographic and anthropometric characteristics.

Results: There was a significant increase (p < 0.001) in mean BMI from pre-pandemic period (24.53 ± 5.34 Kg/m²) to post-pandemic period (25.22 ± 6.0 Kg/m²). Physical Activity significantly decreased during the pandemic period compared to the pre-pandemic period (χ² = 271.97; p < 0.001; φ = 0.31) with an increase in inactive subjects from 25.7% to 52.8%. In the post pandemic period, there was an increase in the level of Physical Activity compared to the pandemic period (χ² = 413.61; p < 0.001; φ = 0.39) with a reduction of inactive subjects from 52.8% to 25.6%. Adherence to Mediterranean Diet score significantly (p < 0.001) increase from pre-pandemic (7.18 ± 1.58) to during-pandemic (7.29 ± 1.69) and post-pandemic (7.75 ± 1.63) periods with significant differences emerged in the consumption of single MEDAS items during the pandemic period by different BMI classes. Consumption of seasonal fruit and vegetables, water intake, the preparation/consumption of traditional or local dishes and the time dedicated for dinner and lunch significant increase (p < 0.001) during pandemic.

Conclusions: The Covid-19 pandemic changed people's lifestyles, but in different ways for Physical Activity and diet. During the pandemic there was a negative effect for PA that decreased while the time spent sitting increased. This seems to be a temporary effect as, after the end of the phase of mandatory restrictions, it returns to the original level. The lockdown period improved the quality of the Italian population's eating habits, with an increase in adherence to the Mediterranean diet even after the end of the pandemic showing a rediscovery of traditional dishes, increase in consumption of seasonal products, greater preference for local products and more time spent preparing meals.