Hospital de Dona Estefânia (Portuguese pronunciation: [ɔʃ.piˈtaɫ dɨ ˈdo.nɐ ɨʃ.ˈteˈfɐ.njɐ], "Queen Stephanie's Hospital") is a public Central Hospital serving the Greater Lisbon area as part of the Central Lisbon University Hospital Centre (CHULC), a state-owned enterprise.Established in 1877 in memory of Queen Stephanie of Hohenzollern-Sigmaringen, this was the first Portuguese hospital specifically dedicated to the healthcare of children, and it remains a national reference in pediatric specialties, both medical and surgical. It serves the south of the country and Insular Portugal.
Background Spinal cord injuries (SCI), although rare in children, lead to significant morbidity and mortality. Case presentation This report describes the case of a 15-year-old male adolescent who developed SCI due to paradoxical embolism of a deep vein thrombus following strenuous exercise. He presented with bilateral upper limb weakness that progressed to severe tetraparesia, sensory deficits, and autonomic instability. Imaging revealed medullary ischemia with hypoperfusion of the anterior spinal artery. A family history of thromboembolism and obesity were noted as risk factors in the patient; however, thrombophilia screening was negative. Optimized fluid therapy was initiated for the medullary shock associated with dexamethasone and enoxaparin. As neurological recovery was incomplete, the patient was enrolled in an intensive rehabilitation program. Conclusion To the best of our knowledge, this is the first reported case of medullary ischemia due to a paradoxical embolism of a deep vein thrombus through a patent foramen ovale in an adolescent. This case highlights the need for a multidisciplinary approach to optimize long-term outcomes after medullary ischemia.
Background Machado–Joseph disease (MJD) is a hereditary neurodegenerative disorder caused by an expanded CAG repeat in the ATXN3 gene. Despite its monogenic origin, MJD presents heterogeneous clinical and neuropathological features that are only partially explained by genetic factors, suggesting a potential contribution of epigenetic modifiers. In this study, we profiled genome-wide DNA methylation in brain regions and peripheral blood from MJD mutation carriers at both preclinical and symptomatic stages. Results DNA methylation alterations in MJD brains were limited at the CpG level, with only three significant DMPs detected. In contrast, 175 DMRs were identified across the two brain regions analyzed, eight of which were shared between the DN and CC. While no specific biological pathways were enriched in the DN, hypermethylated regions in the relatively spared CC showed strong enrichment for myelination-related pathways. In peripheral blood, no genome-wide significant DMPs were detected, consistent with the lack of a distinct MJD episignature. Notably, methylation alterations in blood, detected as DMRs, were more pronounced in preclinical carriers. No blood DMRs were found to overlap with those identified in the brain. In blood samples of MJD patients, methylation levels of 5241 CpGs were associated with disease duration. Age acceleration was not associated with age at onset. Conclusions MJD exhibits subtle DNA methylation changes that occur primarily at genomic regions rather than individual CpG sites. In the brain, these alterations are largely region-specific, with the cerebral cortex showing enrichment for myelination-related pathways. In peripheral blood, exploratory analysis suggests that methylation changes are limited and do not mirror those observed in the brain. Together, these findings provide the first integrated analysis of the DNA methylation landscape in MJD across the brain and blood.
