Publications by authors named "C N Carducci"
Introduction: MRI examinations in the pediatric population require acquiring motionless images in the safest possible manner. At our institute, we have developed a protocol called "Good Practice" aimed at avoiding anesthesia in newborns and infants through the use of the "feed and wrap" technique, as well as preventing hospitalization for older children requiring anesthesia with an optimized sedation protocol. We evaluated this protocol in terms of patient safety, imaging quality, and parental satisfaction.
View Article and Find Full Text PDFPhenylketonuria (PKU, OMIM 261600) is a genetic disorder caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, PKU leads to systemic phenylalanine (Phe) accumulation, which can result in irreversible brain damage and intellectual disabilities. In the last 60 years, early and strict dietary restriction of phenylalanine (Phe) intake proved to prevent the severe clinical phenotype of untreated PKU.
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- The GCH1 gene produces an enzyme essential for making tetrahydrobiopterin (BH4), crucial for monoamine neurotransmitter production; deficiencies can lead to various forms of dystonia and developmental issues.
- The study reviewed 45 patients with arGTPCH deficiency, identifying three main phenotypes: early-infantile encephalopathy, dystonia-parkinsonism, and late-onset dopa-responsive dystonia (DRD).
- Early pharmacological treatment is vital for the first two phenotypes to mitigate serious neurodevelopmental damage, and genotype analysis may help in quicker diagnosis and assessment of clinical severity.
Hyperserotonemia is one of the most studied endophenotypes in autism spectrum disorder (ASD), but there are still no unequivocal results about its causes or biological and behavioral outcomes. This systematic review summarizes the studies investigating the relationship between blood serotonin (5-HT) levels and ASD, comparing diagnostic tools, analytical methods, and clinical outcomes. A literature search on peripheral 5-HT levels and ASD was conducted.
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- The MRPS36 gene is crucial for the 2-oxoglutarate dehydrogenase complex, which plays a significant role in the Krebs cycle, and defects in this gene lead to serious metabolic disorders including developmental delays and neurological issues.
- Researchers studied two siblings with Leigh syndrome and identified a specific mutation in the MRPS36 gene that impacts enzyme function without affecting protein levels.
- The findings suggest that MRPS36 mutations contribute to Leigh syndrome, with elevated plasma glutamate and glutamine potentially serving as biomarkers for this condition.