Cardiovascular diseases (CVDs) are a group of disorders of the heart and blood vessels. In addition to environmental risk factors, genetic predisposition increases the risk; this includes alterations in the vitamin D receptor gene (VDR). These alterations play a key role in modifying vitamin D uptake, being able to modify its function and increasing susceptibility to cardiovascular disorders. The aim of this study was to evaluate the association of polymorphisms in the VDR gene and risk of CVD in a Caucasian population. A retrospective case-control study was conducted comprising 246 CVD patients and 246 controls of Caucasian origin from Southern Spain. The genetic polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232), FokI (rs2228570) and Cdx2 (rs11568820) were determined by means of real-time polymerase chain reaction (PCR) for allelic discrimination using TaqMan^® probes. The logistic regression analysis adjusted for body mass index and diabetes revealed that the TT genotype was associated with a higher risk of CVD in both the genotypic model (p = 0.0430; OR = 2.30; 95% CI = 1.06–5.37; TT vs. CC) and the recessive model (p = 0.0099; OR = 2.71; 95% CI = 1.31–6.07; TT vs. C). Haplotype analysis revealed that the haplotype GAC (p = 0.047; OR = 0.34; 95% CI = 0.12–0.98) was associated with increased risk of CVD. The VDR polymorphisms FokI (rs2228570) was significantly associated with the development of CVD. No influence was observed of the VDR polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) on the risk of developing CVD in the patients studied.

Sarcomas are rare malignant tumors of mesenchymal origin with a high misdiagnosis rate due to their heterogeneity and low incidence. Conventional diagnostic techniques, such as Fluorescence In Situ Hybridization (FISH) and Next-Generation Sequencing (NGS), have limitations in detecting structural variations (SVs), copy number variations (CNVs), and predicting clinical behavior. Optical genome mapping (OGM) provides high-resolution genome-wide analysis, improving sarcoma diagnosis and prognosis assessment. This study analyzed 53 sarcoma samples using OGM. Ultra-high molecular weight (UHMW) DNA was extracted from core and resection biopsies, and data acquisition was performed with the Bionano Saphyr platform. Bioinformatic pipelines identified structural variations, comparing them with known alterations for each sarcoma subtype. OGM successfully analyzed 62.3% of samples. Diagnostic-defining alterations were found in 95.2% of cases, refining diagnoses and revealing novel oncogenic and tumor suppressor gene alterations. The challenges included DNA extraction and quality issues from some tissue samples. Despite these limitations, OGM proved to be a powerful diagnostic and predictive tool for bone and soft tissue sarcomas, surpassing conventional methods in resolution and scope, enhancing the understanding of sarcoma genetics, and enabling better patient stratification and personalized therapies.

Background: Denosumab represents a valuable treatment option for unresectable giant cell tumors of the bone (GCTBs). However, no standardized protocols exist determining the length of administration, with few studies having been published on patients who reached the end of treatment.Aims: To analyze the outcomes of patients diagnosed with GCTB and who had finished single treatment with denosumab.Methods and Results: This is a multicenter, retrospective, descriptive study carried out in seven Spanish hospitals with multidisciplinary sarcoma and musculoskeletal tumor boards, between 2009 and 2019. Sixteen patients diagnosed with unresectable GCTBs and treated with denosumab who had reached the end of their treatment were recruited for the study and had been followed up for a minimum of 2 years. Fifty percent of patients discontinued denosumab after showing signs of tumor control. The disease remained stable in 69% of patients (n = 11), with a median recurrence‐free survival time of 46 months (20–157 months) after being treated for a median period of 19 months (5–83 months). Four patients experienced local progression, and one presented multifocal progression. These five patients were treated for a median period of 46 months (14–76 months), with a median recurrence‐free survival time of 9 months (5–25 months).Conclusion: The findings of the present study suggest that discontinuation of denosumab in patients with unresectable GCTB is not necessarily associated with the progression of the disease. Further research is needed to determine how long denosumab should be administered to minimize the risk of recurrence.

Objective The objective of this study was to perform an epidemiological analysis of patients presented to the Musculoskeletal Tumors Committee of a reference hospital. Material and method A retrospective analysis of patients with sarcomas treated in a reference Sarcoma Unit between 2009 and 2022 was carried out. Results A total of 1978 patients were analyzed, of which 1477 (74.67%) were diagnosed as sarcomas. They were divided into 446 (30.20%) bone tumors and 1.031 (69.80%) soft tissue tumors. The most common benign bone tumor was enchondroma (27.23%), giant cell tumor (59.21%) was the most common tumor of intermediate malignancy and the malignant one was osteosarcoma (24.78%). The most frequently observed benign soft tissue tumor was lipoma (50.74%), the atypical lipomatous tumor (53.25%) was the most frequent tumor of intermediate malignancy and the malignant one was sarcoma of uncertain differentiation (38.10%). Conclusion Our study represents the first work on the epidemiology of sarcomas and other musculoskeletal tumors in our country, being very useful to adapt the resources destined for their diagnosis and treatment.

Background/Objectives: Computer-assisted navigation in total knee arthroplasty (TKA) aims to improve implant positioning and lower-limb alignment. However, its impact on functional outcomes, complications, and implant survival remains uncertain. This study compared radiological and functional outcomes, complications, reoperations, and implant survival between computer-navigated and conventional primary TKA using the same VEGA prosthetic system. Methods: This retrospective observational cohort study included 277 primary TKAs performed for osteoarthritis using the VEGA system between 2019 and 2025: 119 navigated and 158 conventional procedures. Radiological outcomes included postoperative LDFA, MPTA, and HKA alignment. Clinical outcomes included range of motion, Oxford Knee Score (OKS), and Net Promoter Score (NPS). Complications, reoperations, and implant survival were also assessed. Implant survival was analyzed using Kaplan–Meier curves and the log-rank test. Results: The navigated group had a postoperative HKA closer to neutral alignment than the conventional group (177.4° vs. 173.8°, p = 0.0002), and a greater proportion of knees within ±3° of neutral alignment (55.32% vs. 18.75%, p = 0.0003). Excellent postoperative ROM was more frequent after navigation (63.06% vs. 16.46%, p < 0.001). Median OKS was also higher in the navigated group (44 vs. 43, p = 0.031), whereas NPS did not differ significantly. Complication and reoperation rates were similar between groups. Estimated five-year implant survival was 95.88%, with no significant difference between groups (log-rank p = 0.326). Conclusions: Computer-assisted navigation using the VEGA system was associated with more accurate restoration of the mechanical axis and differences in selected functional outcomes. No significant differences were observed in complications, reoperations, or estimated implant survival. The retrospective design, potential confounding by surgeon, and limited follow-up warrant caution when interpreting these findings.