Endokrynologia Polska最新文献

Not reqired for Clinical Vignette.

Not required for Clinical Vignette.

Through pleiotropic effects related to the presence of its receptors in major human organs, vitamin D (VD) plays an important role in systemic homeostasis, especially in the proper functioning of muscles and bones. In light of the published data from both animal and human studies, VD deficiency should be considered a risk factor for obesity-related morbidity, prediabetes, and type 2 diabetes (T2D); in addition, VD supplementation in VD deficiency has a beneficial effect on the effects of treatments aimed at normalization of body weight (including incretin drugs) and the metabolism of carbohydrates in prediabetes and T2D. The objective of this paper is to present the current knowledge and evidence on the relationship between VD deficiency and obesity, prediabetes, and T2D. The paper is intended to be used as a practical guide. The authors propose that serum 25(OH)D concentrations be determined in adults who are obese or overweight (i.e., belonging to the group presenting with a multiple increase in the risk of VD deficiency) or adults who are obese or overweight and have prediabetes or T2D. The baseline VD levels should determine the therapeutic dose and be helpful in assessing the effectiveness of therapy. The available literature lacks precise information regarding the recommended doses of VD in obese people, with 4000 IU being a frequently suggested daily dose. Most papers recommend that body weight be taken into account when determining the dose of VD in the obese; the dose should be higher than in individuals with normal body mass index (BMI). The authors suggest that in the case of low VD levels (< 20.0 ng/mL), quite frequently as low as 12.0-15.0 ng/mL, in an adult obese patient, VD therapy should be started at 20,000 IU two times per week or 50,000 IU once a week with 25(OH)D and calcium levels being checked after one month so that a decision can be made on the further course of therapy. The suggested 25(OH)D concentration target range is > 30-50 ng/mL. In a patient-tailored supplementation model, the dose of VD should depend on body weight and, most importantly, on the baseline VD level. In the absence of the expected effects, the authors suggest that the dose of VD (usually vitamin D3) be increased or the treatment be switched to calcifediol or alfacalcidol, or calcitriol in special cases such as impaired kidney or liver function. It is important to emphasize the need to individualize the management and monitor blood calcium and creatinine levels during chronic VD therapy, including high-dose therapy.

Introduction: The present study was undertaken to elucidate the expression status and molecular mechanism underlying microRNA-3127-5p (miR-3127-5p) in polycystic ovary syndrome (PCOS).

Material and methods: A total of 50 PCOS and 50 non-PCOS patients were recruited as research subjects. Quantitative real-time polymerase chain reaction was employed to assess the relative abundances of miR-3127-5p in serum, cumulus cells (CCs), and granulosa cells (GCs) from PCOS patients. Additionally, cellular activities and ferroptosis-related biomarkers were evaluated. Bioinformatics analysis was conducted to identify potential targets of miR-3127-5p. To validate the interaction between miR-3127-5p and sorbin and SH3 domain-containing protein 1 (SORBS1), a luciferase reporter assay was conducted.

Results: Enforced miR-3127-5p expression was detected in serum, CCs, and GCs from PCOS patients, demonstrating a robust diagnostic capacity for effectively distinguishing between PCOS and non-PCOS patients. Furthermore, the reduction of miR-3127-5p expression was found to enhance cell viability and inhibit cell apoptosis in human granulosa-like tumor cell line (KGN) and the luteinized granulosa cell line (SVOG) cells. Concurrently, its down-regulation led to attenuated levels of iron, malondialdehyde (MDA), and reactive oxygen species (ROS), while simultaneously increasing the expression of glutathione peroxidase 4 (GPX4). Notably, miR-3127-5p expression exhibited an inverse relationship with SORBS1. Rescue experiments revealed that the effects of downregulated miR-3127-5p expression on cellular behaviors and ferroptosis were reserved through the transfection of si-SORBS1.

Conclusion: The downregulation of miR-3127-5p expression facilitates cell growth and attenuates ferroptosis by targeting SORBS1, thereby playing a pivotal role in the initiation and development of PCOS.

Plasma calcium levels are regulated by many factors, including the levels of calcium-sensitive receptors, parathyroid hormone, parathyroid hormone receptors, vitamin D, vitamin D receptors, and other proteins. Plasma calcium is also related to genetic structure; albumin, creatinine, and phosphorus levels; and blood pH. Multiple factors affect hypercalcemia in children, making its management challenging. These factors have led to accurate diagnosis for mostly mild and moderate cases of hypercalcemia, resulting in a management dilemma. In many clinics, physicians face undiagnosed cases of hypercalcemia even if the hypercalcemia algorithms are followed accurately. In this narrative review, we discuss a logical approach to the investigation and subsequent clinical management of hypercalcemia in children.

Introduction: The analysis of the costs associated with treating acromegaly and its complications is important in planning diagnostics and treatment for a single patient, as well as in establishing the standard of care for the entire population of acromegaly patients. Data on the actual costs of treating patients with acromegaly in Poland are limited.

Aims of the study: To determine the direct cost (hospital stays, diagnostic imaging, surgical treatment, pharmacotherapy, tumour irradiation) of treating patients with acromegaly and its complications, assessing the relationship between acromegaly treatment costs and the radical nature of the treatment.

Materials and methods: A retrospective analysis of medical records was carried out in 124 patients with acromegaly who were hospitalised in the Department of Endocrinology in 2011-2016, including a group of 39 patients who were successfully operated on, 73 patients requiring treatment with a somatostatin analogue, and 12 patients with newly diagnosed disease. The costs of surgical procedures, hospitalisation, diagnostic tests, and the cost of pharmacological treatment of acromegaly and its complications were analysed and estimated based on the system of homogeneous groups of patients.

Results: The mean total annual cost of acromegaly treatment was PLN 43,419 (EUR 9731). The mean annual cost of treating patients undergoing effective neurosurgical treatment was lower than in the other groups, and the costs of pharmacological and surgical treatment of complications of acromegaly were also lower. The costs of hospitalisation and additional diagnostic tests were highest in patients with newly diagnosed acromegaly.

Conclusions: Treatment with somatostatin analogues is the major cost factor in patients requiring chronic therapy. Effective radical neurosurgical treatment reduces the incidence of chronic complications of acromegaly and lowers the overall treatment costs.

Not required for Clinical Vignette.

Not required for Clinical Vignette.

Introduction: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy, with rising incidence in recent years. Long non-coding RNAs (lncRNAs) have been implicated in various cancers, including PTC. This study aims to identify novel lncRNA biomarkers involved in thyroid cancer progression and their potential role in carcinogenic pathways.

Material and methods: Using whole transcriptome sequencing, lnc-MPEG1-1 was identified as a potential target. Expression levels of lnc-MPEG1-1 were analyzed in 43 PTC tissue samples and data from the Cancer Genome Atlas Thyroid Cancer (TCGA-THCA) cohort. Correlations between lnc-MPEG1-1 expression and clinical-pathological features were assessed. Functional assays, including cell proliferation, migration, and invasion, were conducted in vitro to investigate the biological role of lnc-MPEG1-1. Additionally, correlation analyses were performed to explore the relationship between lnc-MPEG1-1 expression and the B-Raf proto-oncogene, serine/threonine kinase V600E (BRAFV600E) mutation, a common genetic alteration in PTC.

Results: lnc-MPEG1-1 was significantly upregulated in PTC tissues, with higher expression in BRAF-mutated samples. Knockdown of lnc-MPEG1-1 in PTC cell lines significantly reduced cell proliferation, migration, and invasion, indicating its role in promoting tumor aggressiveness. Correlation analyses revealed a strong association between lnc-MPEG1-1 expression and BRAF mutation-related genes. Pathway analysis suggested that lnc-MPEG1-1 is involved in oncogenic processes such as cell growth, epithelial-mesenchymal transition (EMT), and cell cycle regulation.

Conclusion: lnc-MPEG1-1 is a novel lncRNA linked to BRAF mutations, promoting PTC progression. It holds potential as a prognostic biomarker and therapeutic target, particularly in BRAF-mutant PTC cases.

Introduction: Addison's disease (AD) requires lifelong glucocorticoid (GC) replacement; however, long-term GC excess may lead to adverse effects, including osteoporosis. Former studies of bone mineral density (BMD) in AD revealed discrepant results, possibly due to variable individual sensitivity of the glucocorticoid receptor gene (NR3C1) variants. This study was designed to evaluate whether the NR3C1 polymorphisms rs6195, rs41423247, and rs6189/rs6190 might influence BMD in AD patients receiving standard steroid replacement.

Material and methods: Molecular analyses of three NR3C1 polymorphisms were performed in 178 AD patients (46 males, 132 females) treated for 15.4 ± 10.9 years, using the PCR-RFLP method and real-time polymerase chain reaction (PCR). Densitometry with dual-energy X-ray absorptiometry covered the lumbar spine (LS) and femoral neck (FN). Additionally, retrospective bone scans were available for 89 individuals.

Results: All subjects were receiving hydrocortisone (mean dose 24.4 ± 5.6 mg/day). Postmenopausal women displayed significantly lower BMD Z-scores than premenopausal females and males (p = 0.0162 for LS, p = 0.0201 for FN). Osteopenia was found in LS and FN in 32.6% and 37.3% patients, respectively, while osteoporosis was prevalent in postmenopausal women (23.2% in LS, 13.9% in FN). Carriers of rs6195 presented lower Z-scores in LS (p = 0.022), but not in FN (p = 0.072). Nonetheless, Z-score changes in either location were not affected by rs6195 (p > 0.05). In multiple linear regression only gender (p = 0.026), age (p < 0.001), and body mass (p = 0.011) correlated with BMD at LS, whereas disease duration, rs6195, and GC dose lost significance.

Conclusion: our study did not confirm a significant association of NR3C1 polymorphisms with BMD in AD patients receiving long-term GC replacement. Currently recommended GC substitution doses seem less harmful to bone, but prospective analyses in larger cohorts of patients are warranted.