Archives of Endocrinology Metabolism最新文献

Objective: The relationship between liver health and glycaemic control in elderly patients with diabetes remains poorly understood. In this study, the value of liver elastography in identifying associations with poor glycaemic control among elderly patients with type 2 diabetes mellitus was investigated.

Subjects and methods: In total, 90 elderly patients (aged ≥ 60 years) with type 2 diabetes mellitus were enrolled in this prospective observational study. All participants underwent liver elastography using FibroScan® and continuous glucose monitoring (CGM). Liver stiffness measurements (LSMs) and the controlled attenuation parameter (CAP) were obtained. Glycaemic control was assessed through multiple parameters, including the time in range (TIR), time above range (TAR), glycaemic variability, and mean glucose levels. Poor glycaemic control was defined as a TIR < 70%. The mean age of the participants was 64.0 ± 10.5 years, with 65.6% being female. The mean liver stiffness was 6.1 ± 7.8 kPa, and the mean CAP was 266.0 ± 54.7 dB/m.

Results: Patients with higher liver stiffness (>8.0 kPa) had a significantly lower TIR (68.7% versus 83.5%, p<0.001) than those with normal liver stiffness (<5.5 kPa). LSMs were strongly negatively correlated with the TIR (r = -0.42, p < 0.001) and positively correlated with the mean glucose level (r = 0.38, p < 0.001). Multivariate analysis revealed that increased liver stiffness was independently associated with poor glycaemic control (adjusted OR = 1.28, 95% CI: 1.14-1.44; p < 0.001).

Conclusion: ROC analysis revealed an exploratory LSM cut-off value of 6.8 kPa for association with poor glycaemic control (AUC = 0.76; sensitivity = 71.2%; specificity = 78.9%). LSMs via transient elastography are independently associated with poor glycaemic control in elderly patients with type 2 diabetes. An LSM threshold of 6.8 kPa may help identify patients who are more likely to present with poor glycaemic control.

Objective: To evaluate and to compare machine learning models for predicting hypertension in patients with diabetes using routine clinical variables.

Methods: Using Behavioral Risk Factor Surveillance System data, models were trained on 35,346 individuals with seven variables ("HighChol", "BMI", "Smoker", "PhysActivity", "Sex", and "Age") to predict the occurrence of hypertension in patients with diabetes ("HTNinDM"). Models included neural network, gradient boosting, random forest, Adaptive Boosting, and logistic regression. Performance was assessed by area under the curve, accuracy, precision, and recall, and F1 score using cross-validation. Class imbalance was addressed via diverse models. Feature importance was evaluated by permutation importance of a random forest model.

Results: The neural network model achieved the best performance with area under the curve 0.689, accuracy 76.5%, precision 76.3%, recall 98.8%. Gradient boosting models performed similarly. Age and body mass index were the top predictors.

Conclusion: Machine learning models show potential for identifying patients with diabetes at high hypertension risk using routine clinical data. A neural network model achieved excellent predictive performance.

Objective: Graves' disease (GD), an autoimmune disorder causing hyperthyroidism, is often diagnosed using 99mTc scintigraphy. While increased thyroidal 99mTc uptake with homogenous distribution is typical, atypical patterns (normal or heterogeneous) occur. This study aimed to investigate the determinants of these atypical uptake patterns in GD.

Subjects and methods: Re-trospective records review identified 238 GD patients diagnosed between January 2022 and December 2024. Normal 99mTc uptake (0.4%-3%) and heterogeneous distribution patterns were defined based on scintigraphy. Relevant clinical and biochemical data were compared between typical and atypical pattern groups.

Results: Normal 99mTc uptake was observed in 25/238 (10.5%). Compared to increased uptake, it was associated with lower FT4, T3 levels (p < 0.01) and TRAb levels (p = 0.01) with similar prevalence of heterogeneous distribution (p > 0.05). Compared to homogeneous uptake, heterogeneous uptake subgroup (n = 30/238, 12.6%) had similar TRAb/T3 levels (p > 0.05) with lower FT4 (p = 0.04); and were more likely to have goiter grade > 1 (p < 0.05). Age, gender, smoking and thyroid eye disease were not associated with either atypical uptake pattern. In regression analysis, lower TRAb was associated with normal uptake (OR 0.798, 95% CI 0.660-0.965, p = 0.02), and goitre grade > 1 was associated with heterogeneous uptake (OR 4.34, 95% CI 1.25-15.03, p = 0.01).

Conclusion: Atypical 99mTc uptake patterns were observed in a notable subset of GD. Normal uptake subgroup may reflect a mild evolving disease stage with lower TRAb, while heterogeneous uptake was primarily linked to increased thyroid size. These findings highlight the importance of integrating clinical and biochemical data when interpreting thyroid scintigraphy in suspected GD.

Objective: Extranodal extension (ENE) is acknowledged as a significant prognostic factor associated with recurrence, distant metastasis, and reduced disease-specific survival in patients with papillary thyroid carcinoma. However, the impact of the extent of extranodal extension on the clinical outcomes of these patients remains insufficiently understood. This study aimed to estimate the risk of detecting distant metastasis in patients with varying degrees of ENE according to a novel stratification method.

Materials and methods: This retrospective study utilizes medical records and slide reviews of papillary thyroid cancer patients who underwent therapeutic neck dissection. A new stratification system was developed, based on the circumferential rupture of the lymph node capsule. It is defined as Focal ENE when less than one-third of the lymph node capsule is ruptured and as Diffuse ENE when one-third or more of the capsule is involved.

Results: Eighty-nine patients participated in the study, with 19% diagnosed with distant metastasis within a 96-month follow-up period. The presence of diffuse extranodal extension was associated with a risk approximately six times higher than in patients without ENE for the detection of distant metastasis at 96 months, after adjustment for age group (HR = 6.41; 95% CI: 1.7-23.8; p = 0.006).

Conclusion: A greater extent of extranodal extension is linked to a heightened risk of detecting distant metastasis and should thus be considered in the therapeutic decision-making process.

Objective: This study assessed the effects of bariatric surgery on the anthropometric profile and cardiometabolic outcomes of women aged 28-66. Additionally, it compared data from patients under and over 50 years old who underwent bariatric surgery at a reference hospital between 2010 and 2018.

Materials and methods: A retrospective cohort study analyzed the medical records of female patients aged 28-66 years at a weight control program who underwent bariatric surgery at a reference hospital over a period of 8 years. Patient profiles were characterized, normality was tested (Shapiro-Wilk), and comparisons were made between preoperative and follow-up periods (Friedman's ANOVA test). Age groups were also compared (Mann-Whitney test). The significance level was set at 5% (p < 0.05).

Results: Patients under 50 years of age had significantly greater weight loss than those over 50 years (p=0.017). However, there was no significant difference in the loss of excess weight, BMI, blood pressure, or laboratory parameters between the two groups.

Conclusion: Our results reinforced the consensus that bariatric surgery is an effective treatment for overweight individuals, improving weight loss and metabolic health. Although the hormonal changes of menopause contribute to the development of an unfavorable cardiometabolic profile, bariatric surgery was equally effective in menopausal women as in younger patients in the population studied.

Objective: The aim of this study is to demonstrate the real-life efficacy of BRAF and MEK inhibitors in patients with advanced thyroid cancer.

Subjects and methods: This retrospective study evaluated the clinical efficacy of either a BRAF inhibitor (dabrafenib) alone or a BRAF inhibitor (dabrafenib) in combination with a MEK inhibitor (trametinib) in the treatment of 10 patients diagnosed with metastatic BRAF-mutant RAI refractory thyroid cancer. The primary endpoint was the investigator-assessed overall response rate (ORR).

Results: The median patient age was 68 years, 60% were men, and all patients were diagnosed with progressive BRAF V600E-mutant RAI-refractory papillary thyroid carcinoma (PTC). In total, 70% of the patients had been previously treated with multikinase inhibitors. One (1%) patient received a BRAF inhibitor alone and 9 (90%) patients received a combination of BRAF and MEK inhibitors. After treatment, 2 (20%) patients achieved a complete response, 5 (50%) patients achieved a partial response, 1 (10%) patient experienced stable disease, and 1 (10%) patient experienced progressive disease. Seven (70%) patients had an objective response rate (ORR) (complete or partial response). Progression-free survival (PFS) was 70%, 40%, 30%, and 30% at 6, 12, 18, and 24 months, respectively. The 12-month overall survival (OS) rate was 90%.

Conclusion: Dabrafenib in combination with trametinib was well tolerated and resulted in substantial clinical benefit, with notable PFS and sustained OS, even as a second-line treatment, in patients diagnosed with metastatic, progressive BRAF V600E-mutated, RAI-refractory thyroid cancer.

Objective: Dyslipidemia is a common cardiovascular risk factor, with ongoing debate over whether lipid profile assessment, with or without fasting, affects the accuracy of cardiovascular risk evaluation. The objective of this study is to evaluate the effect of fasting status on lipid profile values and the prevalence of dyslipidemia.

Subjects and methods: A total of 269 adults (20-69 years) from Vitória-ES (Brazil) were included. Two blood samples were collected on the same day: one in the morning after a 10-12-hour fast and the other in the afternoon, post-lunch (1-5 pm). Dyslipidemias were classified according to the Brazilian Guidelines.

Results: The percentage of participants classified with low HDL-c (male: 54.2 vs. 38.2%, p < 0.001; female: 29.7 vs. 15.2%, p < 0.001) and hypertriglyceridemia (male: 59.5 vs. 26.7%, p < 0.001; female: 50.0 vs. 22.5%, p < 0.001) was higher in the non-fasting state. Furthermore, HDL-c levels were higher in after fasting. Triglyceride levels were higher in the non-fasting state, while LDL-c concentrations were slightly reduced in the non-fasting state. Without fasting, 85 individuals previously classified as having normal TG were reclassified as having hypertriglyceridemia, and 41 individuals previously classified as having normal HDL-c were reclassified as having low HDL-c.

Conclusion: The feeding state is key to detecting and managing dyslipidemias, especially hypertriglyceridemia and low HDL-c. Removing the fasting requirement could improve cardiovascular risk identification, increase patient adherence to testing and treatment. However, the significant differences in the lipid profile concentrations must be considered in the patient's management in the clinical practice.

Objective: To evaluate cyclical and seasonal variation in the incidence of type 1 diabetes mellitus (T1DM) from 1985 to 2016 in Bauru, São Paulo, Brazil.

Subjects and methods: This was a retrospective longitudinal study. Clinical data were collected for individuals known to have T1DM, who aged from 0-14 years, residing in Bauru, São Paulo State, and followed at a local endocrinology clinic from 1985 to 2016. Incidence rates were calculated annually and grouped into quadrennial intervals. Trends were analyzed using Joinpoint Regression to estimate annual percentage changes. Poisson regression models assessed cyclical and seasonal patterns over various periods (3- to 7.5-year cycles). Seasonal variation was evaluated using the Akaike Information Criterion and chi-square likelihood ratios to assess model fit.

Results: Among the 298 included patients, the mean annual incidence was 12.1 per 100,000 person-years (95% CI: 10.7-13.4), with an average annual increase of 2.77% (95% CI: 1.3-4.3%). A significant cyclical variation of 18% every 7.5 years was observed, with girls exhibiting a 22.9% variation every 5 years. No cyclical pattern was identified for boys. Seasonal analysis revealed higher amplitudes among girls (±26.4%) and in the 5-9.99-year age group (±26.2%), predominantly during colder months.

Conclusion: T1DM cyclical variations with a 7.5-year cycle were observed, with girls showing a pronounced variation and a distinct 5-year cycle. Seasonal variations were found among girls, particularly in the 5-9.99-year age group. Outbreaks of H1N1 and dengue, along with the lowest temperatures, coincided with higher incidence rates, aligning with the 7.5-year cycles. Targeted health policies are needed to mitigate the impact of these factors, supporting surveillance, early diagnosis, and preventive strategies for T1DM.

Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia, stemming from the defective migration of GnRH and olfactory neurons during embryogenesis. This study investigated a multigenerational family with KS, identifying novel mutations in the ANOS1 (c.78_108del, X-linked) and GNRHR (c.974del, autosomal recessive) genes through genetic testing. Affected males carrying the ANOS1 mutations displayed a range of phenotypes, all of which were associated with hypogonadism and varying degrees of anosmia. Furthermore, isolated mutations in the GNRHR gene were linked to milder forms of hypogonadism. Individuals possessing mutations in both genes exhibited more severe phenotypes, suggesting a digenic mode of inheritance. These findings broaden the known mutational landscape of KS, illustrating how variations and combinations of mutations in multiple genes can lead to diverse symptoms and levels of severity within the same disorder. By integrating clinical and genetic data, this research enhances understanding of the intricate mechanisms underlying KS, highlighting the value of next-generation sequencing in revealing oligogenic contributions to endocrine disorders for improved diagnostics, management, and genetic counseling.

Objective: To identify maternal and neonatal outcomes in pregnancies with early versus late gestational diabetes mellitus (GDM) diagnosis, considering healthcare access in a low- to middle-income area of Brazil.

Subjects and methods: This retrospective study included women diagnosed with either early GDM (diagnosed before 20 weeks, based on fasting plasma glucose) or late GDM (diagnosed by 24-28 weeks, via oral glucose tolerance test), according to the IADPSG criteria, who received prenatal care at a hospital in southern Brazil. Maternal outcomes included gestational hypertension, pre-eclampsia, cesarean section or instrumented vaginal delivery, and need for intensive care after birth. Perinatal outcomes were assessed based on the adequacy of birth timing and weight for gestational age, the need for neonatal intensive care, shoulder dystocia or fractures, neonatal hypoglycemia and mortality. Logistic regression was used to adjust for possible confounders, with results presented as odds ratios (OR) and 95% confidence intervals (CI).

Results: A total of 320 women with GDM (mean age 32.9 ± 6.5 years) were included: 164 (51.2%) with early GDM and 156 (48.8%) with late GDM. The primary composite maternal outcome was more frequent in late GDM (43.6% versus 29.3%; OR 1.87; 95% CI 1.15-3.03), as well as perineal laceration (OR 2.45; 95% CI 1.22-4.84). No significant differences were found between groups in the primary composite neonatal outcome, prematurity, or macrosomia rates.

Conclusion: In this low-income population in southern Brazil, early GDM diagnosis led to more prenatal consultations and pharmacological treatment, which may have contributed to reduced adverse maternal outcomes.