Introduction: Oxygen is emerging as an important factor in the local regulation of bone remodeling. Some preclinical data suggest that hyperoxia may have deleterious effects on bone cells. However, its clinical relevance is unclear. Hence, we studied the effect of hyperbaric oxygen therapy (HBOT) on serum biomarkers reflecting the status of the Wnt and receptor activator of NF-κB ligand (RANKL) pathways, two core pathways for bone homeostasis. Materials and methods: This was a prospective study of 20 patients undergoing HBOT (mean age 58 yrs., range 35–82 yrs.) because of complications of radiotherapy or chronic anal fissure. Patients were subjected to HBOT (100% oxygen; 2.4 atmospheres absolute for 90 min). The average number of HBOT sessions was 20 ± 5 (range 8–31). Serum hypoxia-inducible factor 1-$\alpha$ (HIF1-$\alpha )$, osteoprotegerin (OPG), RANKL, and the Wnt inhibitors sclerostin and dickkopf-1 (DKK1) were measured at baseline and after HBOT by using specific immunoassays. Results: HIF-1α in eight patients with measurable serum levels increased from 0.084 (0.098) ng/mL at baseline to 0.146 (0.130) ng/mL after HBOT (p = 0.028). However, HBOT did not induce any significant changes in the serum levels of OPG, RANKL, sclerostin or DKK1. This was independent of the patients’ diagnosis, either neoplasia or benign. Conclusion: Despite the potential concerns about hyperoxia, we found no evidence that HBOT has any detrimental effect on bone homeostasis.

Background/Objectives: Retinal vein occlusion (RVO) represents a common ophthalmological disorder that, if untreated, often leads to severely impaired vision. The classic vascular risk factors, aging and glaucoma, represent the core pathogenic factors for RVO. However, antiphospholipid syndrome (APS) has been involved in a non-negligible number of patients with RVO. The main objective of the present study was to assess the performance of the new 2023 ACR/EULAR classification criteria for APS in a cohort of patients with RVO fulfilling the Sydney classification criteria. Methods: A prospective study of consecutive patients with RVO diagnosed with APS in a third-level university hospital. The new 2023 ACR/EULAR classification criteria for APS were applied to all patients. Vascular risk factors, the antiphospholipid antibody (aPL) profile, clinical management, and clinical outcomes were assessed and compared between those fulfilling the Sydney and the 2023 ACR/EULAR criteria. Results: Sixty-nine RVO-APS patients were included in the study. After applying the new classification criteria, 18 patients (26.1%) did not fulfill the new criteria for APS. Specifically, 17 (24.6%) were excluded due to the new Domain 8 (p < 0.001) as they presented only aPL IgM serology, and 1 patient (1.4%) was excluded due to having high venous thromboembolic risk (VTE) with a clinical domain score < 3. Interestingly enough, the presence of high arterial risk (45.1% vs. 50%; p = 0.72) was greater than the presence of high VTE (3.9% vs. 5.6%; p = 0.99); in both cases, the 51 RVO-APS patients were classified with the 2023 ACR/EULAR criteria, and the 18 cases were excluded according to the new classification criteria. Except for the expected differences in serological domains (Domain 7, p < 0.001, and Domain 8, p < 0.001), we did not find other significant differences in terms of prognosis or risk of recurrence between both groups of patients. Conclusions: The implementation of the new ACR/EULAR 2023 classification criteria for APS resulted in the exclusion of about one out of four previously diagnosed RVO-APS patients. The higher prevalence of manifestations of high arterial risk compared with high VTE among both newly classified and excluded APS patients highlights the importance of monitoring cardiovascular risk factors for both the prevention and the management of potential retinal and cardiovascular events.

Statin exposure has been associated with a broad spectrum of muscle toxicity, ranging from asymptomatic creatine kinase (CK) elevation to immune-mediated necrotizing myopathy (IMNM) with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies. The mechanisms underlying these adverse effects are not fully understood, and genetic predisposition may play a role. This observational study evaluated the association of HLA-DRB1*11 and SLCO1B1 rs4149056 variants with statin-induced muscle toxicity. A total of 62 statin-exposed patients treated at a single tertiary center were included and classified as follows: IMNM with anti-HMGCR antibodies (n = 11), non-immune myotoxicity (n = 20), and statin-exposed controls without myopathy (n = 31). The mean age was 66 ± 7.5 years, and 62% were women. The frequency of the HLA-DRB1*11 allele was significantly higher in patients with anti-HMGCR IMNM compared to those with non-immune myotoxicity (81.0% vs. 25.0%; OR = 13.5, 95% CI 1.73–15.3; p < 0.01) and controls (81.0% vs. 17.2%; OR = 21.6, 95% CI 2.87–23.7; p < 0.01). No significant difference was found between the non-immune myotoxicity and control groups. Likewise, the SLCO1B1 rs4149056 variant showed no association with either IMNM or non-immune muscle toxicity. These findings confirm a strong association between the HLA-DRB1*11 allele and anti-HMGCR IMNM. This genetic marker may help to better distinguish immune-mediated from non-immune forms of statin-related myopathy.

Alpha-1 antitrypsin deficiency (DAAT) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis, and, rarely, as the skin disease panniculitis [1], but other rare skin manifestations had been described previously in literature [2]. Despite being one of the most frequent genetic diseases, professionals need high clinical suspicion for its diagnosis.