Publications by authors named "A Martinuzzi"
Article Synopsis
- Short bowel syndrome is a rare condition with limited existing data, prompting a registry study in Latin America focused on chronic intestinal failure, analyzing various patient and clinical factors from specialized centers.
- From May 2020 to July 2023, the study included 167 patients (115 adults and 52 children) across 20 centers, revealing key demographics, complications, and outcomes, with significant differences between adults and children in terms of etiology and follow-up results.
- The findings aim to enhance understanding of intestinal failure in Latin America, serving as both a data repository and an educational resource for healthcare teams, while striving for international recognition of regional health challenges.
Children/adolescents with cancer can develop adverse effects impacting gross motor function. There is a lack of gross motor function assessment tools that have been validated for this population. The aim of this multicenter cross-sectional study was to preliminary validate the 88-item Gross Motor Function Measure (GMFM-88) for use in children/adolescents with cancer, exploring internal consistency and floor/ceiling effect.
View Article and Find Full Text PDFBackground: A drug repositioning effort supported the possible use of the anti-HIV drug etravirine as a disease-modifying drug for Friedreich ataxia (FRDA). Etravirine increases frataxin protein and corrects the biochemical defects in cells derived from FRDA patients. Because of these findings, and since etravirine displays a favorable safety profile, we conducted a pilot open-label phase 2 clinical trial assessing the safety and potential efficacy of etravirine in FRDA patients.
View Article and Find Full Text PDFBackground: Hereditary Spastic Paraplegias (HSP) are genetic neurodegenerative disorders affecting the corticospinal tract. No established neuroimaging biomarker is associated with this condition.
Methods: A total of 46 patients affected by HSP, genetically and clinically evaluated and tested with SPRS scores, and 46 healthy controls (HC) matched by age and gender underwent a single-voxel Magnetic Resonance Spectroscopy sampling (MRS) of bilateral pre-central and pre-frontal regions.
The processing of social information transmitted by facial stimuli is altered in individuals with traumatic brain injury (TBI). This study investigated whether these alterations also affect the mechanisms underlying the orienting of visual attention in response to eye-gaze signals. TBI patients and a control group of healthy individuals matched on relevant criteria completed a spatial cueing task.
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