Publications by authors named "Francesca Poma"
This study sought to compare point-of-care ultrasound (POCUS) and conventional X-rays for detecting fractures in children. This was a prospective, non-randomized, convenience-sample study conducted in five medical centers. It evaluated pediatric patients with trauma.
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- 3-hydroxy-3-methylglutaric aciduria is a rare genetic metabolic disorder caused by a deficiency in the enzyme HMG-CoA lyase, affecting the body's ability to process certain nutrients.
- Acute symptoms can include lethargy, vomiting, low muscle tone, cyanosis, and metabolic issues, often presenting as hypoglycemic crises, as seen in a 3-day-old male initially misdiagnosed with sepsis.
- Timely diagnosis through acyl-carnitine profiling and urine organic acid analysis is critical for effective treatment and prevention of severe complications related to this metabolic disorder.