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PMC10773625_5
In conclusion, COVID-19 vaccination may induce hypophysitis directly or indirectly. We should carefully observe the adverse reactions after vaccine injection and evaluate endocrine function if necessary, especially in patients with severe hyponatremia and hypotension to early recognize the rare but serious adverse reac...
PMC11790522_0
Variants within this domain are known to increase EP300 acetyltransferase activity and p53 acetylation, potentially contributing to cancer in some RSTS2 patients [8].
PMC11790522_4
This research underscores the necessity for comprehensive genetic screening in patients with complex Rubinstein–Taybi syndrome (RSTS) phenotypes, potentially uncovering novel variants in CREBBP and EP300. Such an approach enables early, proactive management and informed decisions, potentially mitigating the disease's i...
PMC11587613_0
This condition underscores the critical role of IRP2 in maintaining iron metabolism and mitochondrial function, with disruptions leading to severe neurological and hematological manifestations.
PMC11587613_1
Functional analyses using patient-derived cells and SH-SY5Y cell lines overexpressing mutant IRP2 revealed significant degradation of the IRP2 protein in the presence of the A2477T mutation. This degradation was associated with altered expression of iron metabolism-related proteins, notably increased FTH and decreased ...
PMC11587613_2
Previous studies have highlighted the role of IRP2 in regulating the metabolic switch from glycolysis to oxidative phosphorylation by stabilizing hypoxia-inducible factors. Our results further support the hypothesis that IRP2 degradation plays a pivotal role in the disease mechanism, as evidenced by the restoration of ...
PMC11539628_0
The incidence of aortic pseudoaneurysm following TAVI is rare, and there is limited data available regarding its occurrence, with only a few reported cases in the literature [3–5]. Regarding the incidence of endocarditis, there is no significant difference between TAVI and conventional surgery, although there have been...
PMC11539628_1
The development of aortic pseudoaneurysms is commonly associated with intimal lesions in the aorta, resulting in bleeding and hematoma formation between the vessel walls. However, in some cases, it can occur as a secondary consequence of local infections [6].
PMC11539628_2
While there are reports of endovascular repair of pseudoaneurysms after TAVI, the presence of an associated fungal infection necessitated valve replacement to address the contaminated valve [7]. Despite the patient’s high surgical risk, the decision to proceed with the surgical procedure was made due to the high mortal...