Frontiers in Endocrinology最新文献

Background: The triglyceride-glucose (TyG) index and related indices, including the triglyceride-glucose body mass index (TyG-BMI), triglyceride-glucose waist circumference (TyG-WC), and triglyceride-glucose waist-to-height ratio (TyG-WHtR), are increasingly recognized as valuable markers of insulin resistance (IR). This study aimed to assess the associations between these TyG-related indices and kidney stones.

Methods: This cross-sectional study analyzed data from 10,824 participants obtained from the National Health and Nutrition Examination Survey (NHANES) conducted between 2007 and 2020. Weighted logistic regression models were employed to evaluate the associations between TyG-related indices and kidney stones, with adjustments for potential confounding factors. Subgroup analyses and smooth curve fittings were performed to further examine these associations, while receiver operating characteristic (ROC) curves were used to compare the predictive performance of each index.

Results: All TyG-related indices demonstrated significant positive associations with kidney stones when analyzed as continuous variables. The odds ratios (OR) with 95% confidence intervals (CI) were 1.0040 (1.0028, 1.0052) for TyG-BMI, 1.0015 (1.0011, 1.0020) for TyG-WC, and 1.3305 (1.2277, 1.4419) for TyG-WHtR. Similar trends were observed in subgroup and smooth curve analyses. When stratified into tertiles, higher tertiles of each TyG-related index were associated with increased odds of kidney stones. TyG-WC demonstrated the strongest predictive capability for kidney stones (AUC = 0.6158), followed closely by TyG-WHtR (AUC = 0.6156) and TyG-BMI (AUC = 0.5949), with TyG showing the lowest AUC (0.5815).

Conclusion: This study identified significant positive associations between TyG-related indices and kidney stone formation. Among these indices, TyG-WHtR exhibited the highest predictive power for identifying kidney stone risk.

Background: Amputation confers disabilities upon patients and is linked to cardiometabolic morbidity and mortality. We aimed to compare the incidence of type 2 diabetes (T2DM) between individuals following amputation with those of the general population.

Methods: We performed a population-based retrospective cohort study using the Nationwide Health Insurance Service database. A total of 21,343 individuals with amputation during 2010-2018 and their 1:3 age- and sex-matched controls was included. We conducted Cox proportional hazard analysis to calculate the risk of T2DM among individuals with amputation.

Results: During the 4.2 ± 2.5 year mean follow-up period, there were 912 incident T2DM cases (10.7 per 1,000 person-years) among individuals with amputation. Individuals with amputation had a higher risk for T2DM (adjusted hazard ratio [aHR] 1.11, 95% confidence interval [CI] 1.03-1.20) compared with matched controls. The risks were increased further when accompanied with disability; those with severe disability had a higher risk of T2DM (aHR 1.77, 95% CI 1.20-2.60) than matched controls. Individuals with proximal upper limb amputation (aHR 1.10, 95% CI 1.02-1.18) and proximal lower limb amputation (aHR 3.60, 95% CI 1.50-8.64) had a higher risk of T2DM compared with matched controls.

Conclusions: Individuals with amputation were at significantly greater risk for T2DM than the general population, particularly those with severe disability and proximal amputation. Innovative strategies that improve and support the long-term T2DM risk for severely injured individuals with proximal amputation are warranted.

Background: A novel and rapid cell-based bioassay, Turbo TSI, for measurement of thyroid-stimulating immunoglobulins (TSI) was recently reported. An assessment of the analytical performance of this TSI bioassay is described herein.

Methods: Thawed cells from Turbo TSI kits were treated with different concentrations of a World Health Organization (WHO) international standard (IS) TSI-positive serum. TSI was measured as a function of luciferase activity measured as relative light units (RLU) and converted into international units per liter (IU/L). Analytical performance studies were performed on numerous samples, over multiple days, by two users at two sites.

Results: The limit of blank, limit of detection and limit of quantitation were determined to be 0.007 IU/L, 0.014 IU/L, and 0.021 IU/L, respectively. Receiver operator characteristics (ROC) analysis determined the cut-off to be 0.0241 IU/L with an area under the curve of 0.984. The linear range was shown to be from 0.015 to 11.958 IU/L. The intra-laboratory precision was ≤15%CV. The overall reproducibility of the assay was ≤20%CV for five concentrations (0.06 to 5.16 IU/L). Interference and cross reactivity studies with a variety of substances showed that the assay was robust. The Turbo TSI bioassay demonstrated 95.2% (95% CI 83.3-98.1) positive percent agreement and 94.8% (95% CI 90.9-97.1) negative percent agreement with an FDA-cleared bioassay (Thyretain ^® TSI) using serum from 295 patients with autoimmune thyroid disease.

Conclusions: The Turbo TSI bioassay exhibits excellent analytical performance and a high level of reproducibility. The performance compared well with Thyretain ^® TSI, an FDA-cleared TSI bioassay.

Introduction: Pre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families' lived experiences with CAH and the couples' subsequent fertility journey. A better healthcare professional understanding of these experiences may subsequently help guide clinicians to better manage and support families of children with CAH and other autosomal recessive conditions.

Methods: All parents of current children of a tertiary service in 2020 with 21-hydroxylase deficient CAH who made an active decision regarding family planning after diagnosis of their index child were invited to participate in a semi-structured interview. Thematic analysis was performed using an inductive, semantic approach.

Results: Thirty families (34 children) were identified. Fourteen considered subsequent children and had directed genetic counselling. Eight decided to have additional children of whom seven agreed to participate. Thematic analysis identified six key domains. Psychological impact surrounding the CAH diagnosis was long-lasting, causing symptoms of trauma including depression and anxiety, and influencing a couple's choice to pursue PGT to avoid having another affected child. The perception of the index child having a mild phenotype, and fear of a more severe phenotype, often supported this decision. Conversely, lived experience of CAH and low day-to-day impact, along with a negative experience of PGT, with a greater than anticipated financial, physical, and emotional toll, led some families to subsequently consider natural conception. The role of the healthcare professional (HCP) was important in the CAH and family planning journeys. A perceived poor understanding of CAH, overstating its potential seriousness, contributed to distress. Parents reported feeling pressured to undergo PGT. Peer-support had a universally positive impact on family experience.

Discussion/conclusions: This study highlights the complex and dynamic nature of fertility decision-making, and the importance of HCP empathy and open-mindedness. Education of HCP and encouraging peer support may improve the CAH and fertility journey for families.

Introduction: Premature ovarian insufficiency (POI) is a condition characterized by ovarian dysfunction occurring before the age of 40, and its etiology is multifactorial, including genetic, immunological, infectious, environmental, and iatrogenic factors, with over half of the cases remaining unexplained. Whether the microbial communities and metabolites in follicular fluid, which is the direct microenvironment for oocyte survival, are related to POI has not been reported.

Methods: In this study, Follicular fluid samples of 26 patients with POI and 27 controls with a normal ovarian reserve were collected and analyzed using 16S rDNA sequencing and untargeted metabolomics. Conjoint analysis was performed to identify key microbial communities and metabolites that might be involved in POI.

Results: Patients with POI exhibited significant alterations in microbial richness and diversity and metabolic profile in their follicular fluid. The downregulation of ABC transporters and upregulation of the citrate cycle (TCA cycle) might be critical for the development and progression of POI. G-Rhodopseudomonas and g-Caulobacter were identified as key microbial genera, while L-aspartic acid, citrate, isoleucine, and cytidine were identified as key metabolites.

Discussion: These findings offer novel insights into the pathogenesis of POI and might pave the way for improved clinical outcomes for individuals with POI.

Background: In recent years, the incidence of patients with colorectal neuroendocrine neoplasms (CRNENs) has been continuously increasing. When diagnosed, most patients have distant metastases. Liver metastasis (LM) is the most common type of distant metastasis, and the prognosis is poor once it occurs. However, there is still a lack of large studies on the risk and prognosis of LM in CRNENs. This study aims to identify factors related to LM and prognosis and to develop a predictive model accordingly.

Methods: In this study, the Surveillance, Epidemiology, and End Results (SEER) database was used to collect clinical data from patients with CRNENs. The logistic regression analyses were conducted to identify factors associated with LM in patients with CRNENs. The patients with LM formed the prognostic cohort, and Cox regression analyses were performed to evaluate prognostic factors in patients with liver metastasis of colorectal neuroendocrine neoplasms (LM-CRNENs). Predictive and prognostic nomogram models were constructed based on the multivariate logistic and Cox analysis results. Finally, the capabilities of the nomogram models were verified through model assessment metrics, including the receiver operating characteristic (ROC) curves, calibration curve, and decision curve analysis (DCA) curve.

Results: This study ultimately encompassed a total of 10,260 patients with CRNENs. Among these patients, 501 cases developed LM. The result of multivariate logistic regression analyses indicated that histologic type, tumor grade, T stage, N stage, lung metastasis, bone metastasis, and tumor size were independent predictive factors for LM in patients with CRNENs (p < 0.05). Multivariate Cox regression analyses indicated that age, primary tumor site, histologic type, tumor grade, N stage, tumor size, chemotherapy, and surgery were independent prognostic factors (p < 0.05) for patients with LM-CRNENs. The predictive and prognostic nomogram models were established based on the independent factors of logistic and Cox analyses. The nomogram models can provide higher accuracy and efficacy in predicting the probability of LM in patients with CRNENs and the prognosis of patients with LM.

Conclusion: The factors associated with the occurrence of LM in CRNENs were identified. On the other hand, the relevant prognostic factors for patients with LM-CRNENs were also demonstrated. The nomogram models, based on independent factors, demonstrate greater efficiency and accuracy, promising to provide clinical interventions and decision-making support for patients.

Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome. A male Caucasian patient presented with XLH, diagnosed at the age of 3 years. At the age of 21, tertiary hyperparathyroidism occurred. Neck ultrasonography, neck magnetic resonance imaging, and ⁹⁹Tc-sestamibi parathyroid scintigraphy revealed two hyperplastic parathyroid glands. To minimize the risk of hypercalcemia, calcimimetic therapy was initiated. After 6 months and preparation with 1,25-dihydroxy vitamin D, the patient underwent total parathyroidectomy with autotransplantation of half of a parathyroid gland into the sternocleidomastoid muscle. Histopathological examination revealed diffuse microscopical hyperplasia of the parathyroid glands. Despite oral supplementation with calcium carbonate and calcitriol, severe hypocalcemia developed on the second postoperative day, attributable to hungry bone syndrome. This finding was confirmed by an increase in bone turnover markers and a reduction in urinary calcium excretion. Hypocalcemia correction required continuous infusion of calcium gluconate for over 2 months. After approval, the patient began burosumab therapy with significant benefits. This case illustrates the complexity of treating tertiary hyperparathyroidism and mineral metabolism in patients with XLH. The hungry bone syndrome can complicate parathyroidectomy, exposing the patients to life-threatening risks. Burosumab therapy may reduce the risk of tertiary hyperparathyroidism developing in these patients.

Objective: Several male factors have been reported to play a role in recurrent pregnancy loss (RPL). The aim of this study is to explore the relationship between semen parameters, sperm DNA fragmentation index (DFI) and RPL.

Method: A total of 1485 participants were recruited from a university hospital between April 2020 and August 2022. Six hundred and thirtyfour men from couples with RPL were assigned to the case group, while 851 men from couple without RPL who underwent fertile evaluation were assigned to the control group. Semen parameters including sperm DNA fragmentation, were assessed.

Results: No statistically significant differences in semen parameters, sperm kinematics and DFI were observed between the case group and the control group. A higher proportion of men in the case group had a DFI > 30% compared to those in the control group; however, this difference was not statistically significant. Restricted cubic spline analysis revealed no significant non-linear relationships between continuous DFI and risk of RPL.

Conclusion: Our study indicates that there is no significant relationship between DFI and RPL risk. Further prospective studies are needed to explore the impact of DFI on fertility outcomes in couples experiencing RPL.

Context: There are limited real-world data evidence assessing the clinical characteristics of hospitalized osteoporotic fractures in China.

Objective: To investigate the clinical characteristics of hospitalized major osteoporotic fractures in Northeast China.

Methods: We identified hospitalized fracture patients aged 50 and over from the First Affiliated Hospital of Jinzhou Medical University between January 1, 2018, and December 31, 2022. Major osteoporotic fractures including hip, vertebral, forearm and wrist, and humerus were diagnosed based on x-ray reports extracted from the electronic medical records (EMR). The cause of fracture, comorbidities, surgical methods, and anti-osteoporotic medications (AM) use were extracted from EMR.

Results: The study population included 1823 fracture patients, 510 males and 1313 females. Over half of fracture patients were aged over 70 years. Hip fractures accounted for 68.4% of all fractures in males and 57.9% in females. For those with hip fractures, the most common sites were the femoral neck (62.9%) and intertrochanteric (35.3%). Most fractures were due to falls (81.0% in males and 80.2% in females). The two most common comorbidities for males and females were hyperlipemia (45.9% vs. 47.1%) and hypertension (38.2% vs. 41.6%). Only 4.7% males and 8.6% females were treated with AM.

Conclusions: Hip fractures, especially femoral neck fractures, accounted for the majority of osteoporotic fractures in a tertiary public hospital in Northeast China. Common comorbidities in these fracture patients were hyperlipemia and hypertension. There was a very low rate of AM use among these patients.