RESUMEN
Cushing's disease (CD) represents a state of cortisol excess, serving as a model to investigate the effects of prolonged hypercortisolism on functional brain. Potential alterations in the functional connectome of the brain may explain frequently reported cognitive deficits and affective disorders in CD patients. This study aims to elucidate the effects of chronic hypercortisolism on the principal functional gradient, which represents a hierarchical architecture with gradual transitions across cognitive processes, by integrating connectomics and transcriptomics approaches. Utilizing resting-state functional magnetic resonance imaging data from 140 participants (86 CD patients, 54 healthy controls) recruited at a single center, we explored the alterations in the principal gradient in CD patients. Further, we thoroughly explored the underlying associative mechanisms of the observed characteristic alterations with cognitive function domains, biological attributes, and neuropsychiatric representations, as well as gene expression profiles. Compared to healthy controls, CD patients demonstrated changes in connectome patterns in both primary and higher-order networks, exhibiting an overall converged trend along the principal gradient axis. The gradient values in CD patients' right prefrontal cortex and bilateral sensorimotor cortices exhibited a significant correlation with cortisol levels. Moreover, the cortical regions showing gradient alterations were principally associated with sensory information processing and higher-cognitive functions, as well as correlated with the gene expression patterns which involved synaptic components and function. The findings suggest that converged alterations in the principal gradient in CD patients may mediate the relationship between hypercortisolism and cognitive impairments, potentially involving genes regulating synaptic components and function.
RESUMEN
Various techniques have been used for management of congenital atlantoaxial dislocation. Recently, the reduction of atlantoaxial dislocation through a single posterior approach has attracted more and more attention. Here, we present a modified technique including direct interfacet release and distraction between C1 and C2 by a specially designed distractor, posterior internal fixation and bone graft fusion. The illustrated technique was performed in 15 consecutive patients, and the outcomes were recorded and analyzed. Follow-up ranged from 12 to 26 months. Clinical symptoms improved in 14 patients (93.3%) and were stable in 1 patient (6.7%). Radiologically, 60-100% reduction was achieved in 13 patients (86.6%). Bone fusion was obtained in all patients at 12 months after the operation. The two-tailed Wilcoxon signed-rank test was used to analyze the preoperative and postoperative Japanese Orthopedic Association scores (JOA), atlas-dens interval (ADI), and cervicomedullary angle (CMA) (P < 0.001). Our results suggested that this direct interfacet release and distraction technique with a specially designed C1-2 distractor can provide a definite effective C1-2 facet distraction and odontoid process restoration through a single posterior approach.
