Publications by authors named "Silvia Duarte-Costa"

Introduction16p11.2 microdeletion syndrome is a rare genetic condition with wide clinical heterogeneity Individuals may present a normal phenotype or neurodevelopmental pathology, often associated with nonspecific dysmorphology, epilepsy, cardiac anomalies and obesity, among other characteristics.Clinical CasesCase 1: Male, 11-year-old, with macrocephaly from 4 months, obesity from 2 years, and speech delay; currently diagnosed with intellectual developmental disorder.

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Article Synopsis
  • * A total of 134 pediatric patients were analyzed, with the leading causes for therapy referrals being carbon monoxide poisoning and sudden sensorineural hearing loss; most treatments occurred urgently and commonly presented symptoms included headache and nausea.
  • * Findings showed that carbon monoxide poisoning was the primary reason for referrals, patients generally had positive outcomes with few side effects, highlighting the need for greater awareness among pediatricians about the benefits of this therapy.
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