Publications by authors named "A M Baldini"

The International Cardiovascular Anatomy, Development, and Regeneration meeting was held from 18-20 September 2024, in Prague, Czech Republic, supported by the European Society of Cardiology's Working Group on Development, Anatomy, and Pathology. Hosted at the Institute of Anatomy, First Faculty of Medicine, the event began with a hands-on workshop on normal and malformed human hearts, covering morphology, echocardiographic imaging, and rare congenital cases. The session allowed participants to examine and image both normal and malformed hearts.

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The brain-related phenotypes observed in 22q11.2 deletion syndrome (DS) patients are highly variable, and their origin is poorly understood. Changes in brain metabolism might contribute to these phenotypes, as many of the deleted genes are involved in metabolic processes, but this is unknown.

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The serine/glycine (ser/gly) synthesis pathway branches from glycolysis and is hyperactivated in approximately 30% of cancers. In ~13% of glioblastoma cases, we observed frequent amplifications and rare mutations in the gene encoding the enzyme PSPH, which catalyzes the last step in the synthesis of serine. This urged us to unveil the relevance of PSPH genetic alterations and subsequent ser/gly metabolism deregulation in the pathogenesis of glioblastoma.

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Background: A 1.5-stage revision could be an alternative to a 2-stage revision for treating hip and knee chronic periprosthetic infections, guaranteeing the maintenance of joint function and infection control and preventing infection-free patients from undergoing further surgery. Our systematic review aimed to answer several questions about the indication, the infection eradication rate, and the long-term functional outcome of 1.

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Background: The Pharyngeal Endoderm (PE) is an extremely relevant developmental tissue, serving as the progenitor for the esophagus, parathyroids, thyroids, lungs, and thymus. While several studies have highlighted the importance of PE cells, a detailed transcriptional and epigenetic characterization of this important developmental stage is still missing, especially in humans, due to technical and ethical constraints pertaining to its early formation.

Results: Here we fill this knowledge gap by developing an in vitro protocol for the derivation of PE-like cells from human Embryonic Stem Cells (hESCs) and by providing an integrated multi-omics characterization.

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