Accuracy of Point-of-Care Ultrasound in Detecting Fractures in Children: A Validation Study.

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. POCUS and X-ray examination results were treated as dichotomous variables with fracture either present or absent. Descriptive statistics were calculated in addition to prevalence, sensitivity, specificity, positive predictive value and negative predictive value, including 95% confidence intervals (CIs). The Cohen κ coefficient was determined as a measurement of the level of agreement. A total of 554 examinations were performed with POCUS and X-ray. On physical examination, swelling, localized hematoma and functional limitation were found in 66.73%, 33.78% and 53.74% of participants, respectively. The most-studied areas were limbs and hands/feet (58.19% and 38.27%), whereas the thorax was less represented (3.54%). Sensitivity of POCUS was 91.67% (95% CI, 76.41-97.82%) for high-skill providers and 71.50 % (95% CI, 64.75-77.43%) for standard-skill providers. Specificity was 88.89% (95% CI, 73.00-96.34%) and 82.91% (95% CI, 77.82-87.06%) for high- and standard-skill providers, respectively. Positive predictive value was 89.19% (95% CI, 73.64-96.48%) and 75.90% (95% CI, 69.16-81.59%) for high- and standard-skill providers, respectively. Negative predictive value was 91.43% (95% CI, 75.81-97.76%) and 79.44% (95% CI, 74.21-83.87%) for high- and standard-skill providers, respectively. The Cohen κ coefficient showed very good agreement (0.81) for high-skill providers, but moderate agreement (0.54) for standard-skill providers. We noted good diagnostic accuracy of POCUS in evaluating fracture, with excellent sensitivity, specificity, and positive and negative predictive value for high-skill providers.

A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.

3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn of metabolism due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme involved both in the ketogenic pathway and leucine catabolism. Acute decompensations present with lethargy, cianosis, hypotonia, vomiting and metabolic acidosis with hypoketotic hypoglycemia. We report the case of a 3 days male with sudden hypoglycemic crisis initially misdiagnosed as a sepsis. HMG-CoA lyase deficiency was achieved through acyl-carnitines profile (showing a typical increasing of 3-hydroxy-isovaleryl and 3-methylgluraryl carnitines) and urinary organic acids analysis (disclosing elevation of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids). This case underlines the need of suspecting such inborn metabolic disorder in cases with hypoglycemia and metabolic acidosis. Acyl-carnitine and urinary organic acids profiles are essential to achieve a prompt diagnosis of treatable metabolic disorders in order to prevent their acute crisis with serious or even fatal consequences.