Endokrynologia Polska最新文献

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Introduction: To determine the trimester-specific reference range of thyroid function in a single centre in Beijing.

Material and methods: A total of 361 healthy pregnant women and 122 normal non-pregnant women tested for thyroid function in the outpatient clinic of our hospital were selected as the research subjects. After being grouped according to the inclusion criteria, the test values of thyroid function indicators thyroid-stimulating hormone (TSH) and free thyroxine (FT4) were recorded, respectively. According to the method of establishing reference value standards given in the guide, using the 2.5 percentile of the data distribution as the lower limit of the reference value and the 97.5 percentile as the upper limit of the reference value, we established the laboratory thyroid function indicators TSH and FT4 pregnancy-specific reference value range.

Results: The values of pregnancy-specific thyroid function indexes in the first, second, and third trimesters were as follows: TSH (0.02-3.39 mIU/L, 0.03-3.43 mIU/L, 0.27-3.88 mIU/L); FT4 (12.24-20.77 pmol/L, 10.78-20.75 pmol/L, 9.54-16.02 pmol/L). Serum TSH and FT4 levels showed a weak negative correlation throughout pregnancy. The established reference value range was used to evaluate the thyroid function of pregnant women in this study. The overall screening found subclinical hypothyroidism, hypothyroidism, subclinical hyperthyroidism, and the prevalence of hyperthyroidism to be 3.5%, 0%, 2.5%, and 0.3%, respectively.

Conclusions: The reference range specific to pregnancy differs from that recommended by the American Thyroid Association (ATA), affecting the diagnosis and treatment of thyroid disease in pregnant women. To correctly detect and control these diseases, the pregnancy-specific reference must be set up clinically to avoid clinical over-diagnosis and missed diagnosis.

Introduction: Thyroid nodules comprise the most prevalent endocrinological condition in the general population. Their treatment is usually invasive and includes surgery or radioiodine; nevertheless, minimally invasive method like laser thermal ablation (LTA) are becoming a more widely available alternative.

Material and methods: This prospective study aimed to determine whether there is a correlation between shear wave elastography parameters (SWE) and the effect of LTA. The study included 42 patients with thyroid nodules measuring at least 25 mm in one dimension. Each patient underwent a thermal ablation procedure, preceded by a detailed ultrasound examination in which SWE parameters were measured.

Results: In short-term observation (3 months) the mean volume reduction rate (VRR) was 35.1%. After LTA, the nodule volume and its stiffness significantly changed (p < 0.001 and p < 0.001, respectively). There were no differences in VRR depending on the type of the lesion (p = 0.827), vascularity (p = 0.921), gender (p = 0.665), or age (p = 0.230). None of the aforementioned parameters showed a significant correlation with VRR (p = 0.803, R = 0.21). No significant adverse events were observed.

Conclusions: LTA caused a significant decrease in thyroid nodule volume in short-term observation. The procedure was safe and relatively painless. Significant changes in ultrasonographic parameters were observed. In this first short-term observation of the Polish population, initial nodule characteristics, vascularity, gender, and age did not correlate with LTA effectiveness. Long-term observation is necessary to determine the utility of SWE in LTA qualification and treatment planning.

Introduction: The aim of the study was to present the optimal way of use in daily practice the methods designed for fracture risk assessment.

Material and methods: The study presents methods designed for fracture risk assessment. Among the long list of available methods, only some may be recommended for use in daily practice. Obvious necessity of simplicity, short duration of calculation of fracture risk, and reliability of method clearly indicate that only algorithms available as Webpage fulfil these expectations. Algorithms FRAX, Garvan, Qfracture, and POL-RISK allow for quick assessment according to the described conditions. Fracture risk is commonly established for the next 10 years for hip, major, or any fractures and expressed by percent of risk.

Results: The essential conditions of optimal use of methods for fracture risk assessment were presented and discussed. The following points were included: methodology, conformity, and recommended thresholds as medical and economic considerations.

Conclusions: The optimal use of methods designed for fracture risk assessment require several steps. Independently of these essential conditions, one should remember that always in management each patient must be individually assessed. The pharmacologic therapy should always be started according to the level of fracture risk and other factors not included in the assessment of fracture risk.

Introduction: MicroRNAs (miRNAs) are involved in the pathogenesis of various diseases. Although the role of miR-490-5p in bone-related disorders has been reported, its regulatory mechanism in osteoporotic fractures remains unclear. Therefore, this study aims to investigate the functional mechanism of miR-490-5p in osteoporotic fractures.

Material and methods: Human osteoblast cells (hFOB1.19) were induced to undergo differentiation, during which the expression levels of miR-490-5p, forkhead box P3 (FOXP3), and claudin 14 (CLDN14) were quantified using real-time quantitative polymerase chain reaction (RT-qPCR). Osteoporotic animal models and osteoporotic fracture models were established to evaluate miR-490-5p expression. Osteoporosis-related biomarkers were assessed via alkaline phosphatase (ALP) activity assays and commercial assay kits. Rescue experiments were performed to validate the findings.

Results: miR-490-5p inhibited osteoblast differentiation. It was highly expressed in osteoporotic bone tissue and at the fracture ends of osteoporotic fractures. Mechanistically, miR-490-5p inhibited the expression of FOXP3 by binding to the 3'UTR of FOXP3, thereby suppressing RUNX1 transcriptional activation of CLDN14, leading to the progression of osteoporotic fractures.

Conclusion: miR-490-5p inhibits RUNX1 transcriptional activation of CLDN14 through FOXP3, promoting the development of osteoporotic fractures.

Introduction: As a new index of obesity and metabolism, the cardiometabolic index (CMI) has been shown to play an important role in the prediction and diagnosis of metabolic diseases. However, the relationship between CMI and osteoporosis (OP) in type 2 diabetes mellitus (T2DM) patients with metabolism-associated fatty liver disease (MAFLD) remains unclear. The present study aims to explore the relationship between them and provide new insights for the clinical management of OP in patients with T2DM.

Material and methods: A total of 429 T2DM patients with MAFLD were selected. Characteristics of the participants were compared across the quartiles of CMI. Spearman correlation analysis was conducted to examine the correlation between CMI and BMD. Regression models were utilized to investigate the relationship between CMI and bone mineral density (BMD) as well as OP. Receiver operating characteristic (ROC) curves were constructed to evaluate the diagnostic efficacy of CMI for identifying OP in T2DM patients with MAFLD.

Results: The present study found that after adjustment for multivariate analysis, CMI was negatively correlated with lumbar spine (LS) BMD (β = -0.158, p < 0.001), femoral neck (FN) BMD (β = -0.129, p = 0.004), and hip BMD (β = -0.350, p < 0.001) in T2DM patientswith MAFLD. Furthermore, CMI was significantly associated with OP [odds ratio (OR) = 2.297, 95% confidence interval (CI): 1.198-4.424, p = 0.012]. The receiver operating characteristic curve (ROC) curve revealed that the area under the curve (AUC) of CMI for predicting OP in T2DM patients with MAFLD was 0.755 (95% CI: 0.676-0.833, p < 0.001), with an optimal threshold of 1.948. The predictive accuracy for OP was higher in female patients (AUC: 0.863, p < 0.001) compared to male patients (AUC: 0.716, p < 0.001).

Conclusion: CMI shows a significant negative correlation with BMD in T2DM patients with MAFLD. It is an independent risk factor for OP in this patient population, offering a new direction for the prevention and screening of OP in individuals with T2DM. Moreover, CMI demonstrated greater diagnostic efficiency in postmenopausal female patients over the age of 50 years compared to male patients of the same age group.

Introduction: A densitometric diagnosis of osteoporosis qualifies patients to a diagnostic-therapeutic process, but densitometric evaluation may not be sufficient for osteopaenic patients. Therefore, it is essential to assess osteoporosis risk factors, fracture history, and 10-year fracture risk, and classify patients into low-, medium-, high-, or very high-risk categories. In our study, we aimed to assess the risk of fractures in patients with newly diagnosed osteopaenia and determine the percentage of patients at high and very high risk of fracture.

Material and methods: The study included 89 postmenopausal women with newly diagnosed osteopaenia as determined by a T-score of the femoral neck and/or lumbar spine from dual-energy X-ray absorptiometry (DXA) scans between -1.0 and -2.5 standard deviations (SD). Demographic data and laboratory tests were collected. Additionally, based on the Fracture Risk Assessment Tool (FRAX-PL) calculator including bone mineral density (BMD), 10-year fracture risk was calculated for major osteoporotic fractures (FRAX MOF) and hip fractures (FRAX HF). Each patient was then classified into particular risk groups based on FRAX and modified fracture risk assessment criteria.

Results: Our study found the most common risk factors to be glucocorticoid intake (47.19%), parental hip fracture (46.07%), and smoking (39.33%). In the general population, 56.6% of subjects had at least one fracture in adulthood. The FRAX calculator showed that 39.33% of the patients had a very high risk of HF and 34.83% had a very high risk of major osteoporotic fractures (MOF). A high fracture risk for hip fractures (HF) and MOF was noted in 11.24% and 40.45% of the patients, whereas a medium and low risk of MOF was seen in 17.98% and 6.74%, respectively. Significantly more subjects (53.93%) had been classified as being at very high risk of fracture, based on the expanded criteria than on the basis of FRAX alone. Of these, 48.31% met the criteria of FRAX > 15% for MOF or > 4.5% for HF, and 7.87% had multiple (≥ 2) major fractures. Women aged 70-75 years were at the highest risk of fracture.

Conclusions: Our findings highlight the importance of categorising fracture risk in osteopaenic patients, and show that the number of patients at very high fracture risk increases when the expanded criteria from the latest Polish guidelines are applied.

Cachexia is characterized by decreased body weight resulting from the predominance of catabolic over anabolic metabolism. The condition is likely to be caused by a decline in the body's physiological reserves, which leads to breakdown of homeostatic processes in patients weakened by diseases. The overlapping disease is the frailty syndrome, i.e., a group of symptoms (decreases in skeletal muscle mass (sarcopenia) and bone density) that occur in the aging process. Additionally, cachexia is associated with elevated levels of various pro-catabolic indicators. Importantly, this condition responds rather poorly to standard nutritional support or medical nutrition, and is often accompanied by loss of appetite, which makes therapy much more difficult. The result is worsening of the patient's somatic condition and an increased risk of premature death. Compounds representing the class of selective androgen receptor modulators (SARMs) are a relatively new group of substances that could be used in the future to improve the condition of patients with cachexia and frailty syndrome. Two compounds, GTx-024/MK-2866 (enobosarm) and GSK2881078, are currently being tested in clinical trials. This paper discusses their effects and potential use in future cachexia and frailty therapies.

Introduction: Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is a rare genetic disease caused by mutations in the SLC19A2 gene that encodes thiamine transporter 1 (THTR-1). The common manifestations are diabetes, anaemia, and deafness. The pathogenic mechanism has not yet been clarified.

Material and methods: Rat pancreatic islet tumour cells INS.1 were used to construct cell lines stably overexpressing wild-type SLC19A2 and SLC19A2 (c.1409insT) mutants. The mRNA and protein expressions of THTR-1 and endoplasmic reticulum stress (ERS)-associated factors were detected by real-time fluorescence quantitative polymerase chain reaction (PCR) and western blot methods, respectively. Flow cytometry and cell counting kit-8 were used to analyse the effects of SLC19A2 (c.1409insT) mutation on cell apoptosis and proliferation, respectively. 4-Phenylbutyric acid (4-PBA), an ERS inhibitor, was administered to SLC19A2 (c.1409insT)-mutated INS.1 cells, and then the mRNA and protein expressions of ERS-related factors in cells were detected.

Results: Mutations in the SLC19A2 (c.1409insT) promote apoptosis and inhibit cell proliferation, thereby upregulating the mRNA and protein levels of ERS-associated factors glucose-regulated protein 78, protein kinase R-like endoplasmic reticulum kinase, C/EBP homologous protein, and activating transcription factor 4. 4-PBA could inhibit ERS caused by SLC19A2 (c.1409insT) mutations, downregulate mRNA and protein expression levels of GRP78, CHOP, and phosphorylated eukaryotic initiation factor 2α, and protect pancreatic islet β-cells.

Conclusion: THTR-1 deficiency triggers diabetes in TRMA patients through ERS, and 4-PBA protects pancreatic islet β-cells by inhibiting ERS, which provides new ideas and intervention targets for the prevention and treatment of TRMA and diabetes.