BackgroundThe use of point-of-care ultrasonography (POC US) in paediatrics is increasing. This study investigated the diagnostic accuracy of POC US in children accessing the emergency department (ED) when performed by paediatricians under the remote guidance of radiologists (TELE POC).MethodsChildren aged 0 to 18 years accessing the ED of a third level research hospital with eight possible clinical scenarios and without emergency/severity signs at the triage underwent three subsequent US tests: by a paediatrician guided remotely by a radiologist (TELE POC); by the same radiologist (UNBLIND RAD); by an independent blinded radiologist (BLIND RAD). Tele-radiology was implemented using low cost “commercial off-the-shelf” (COTS) equipment and open-source software. Data were prospectively collected on predefined templates.ResultsFifty-two children were enrolled, for a total of 170 ultrasound findings. Sensitivity, specificity, positive and negative predictive values of TELE POC were: 93.8, 99.7, 96.8, 99.4 when compared to UNBLIND RAD and 88.2, 99.7, 96.8, 98.7 when compared to BLIND RAD. The inter-observers agreement between the paediatricians and either the unblind or blind radiologist was excellent (k = 0.93). The mean duration of TELE POC was 6.3 minutes (95% CI 4.1 to 8.5). Technical difficulties occurred in two (3.8%) cases. Quality of the transmission was rated as fair, good, very good and excellent in 7.7%, 15.4%, 42.3% and 34.6% of cases respectively, while in no case was it rated as poor.ConclusionsPOC US performed by paediatricians in ED guided via tele-radiology by an expert radiologist (TELE POC) produced reliable and timely diagnoses. Findings of this study, especially for the rarer conditions under evaluation, need further confirmation. Future research should investigate the overall benefits and the cost savings of using tele-ultrasound to perform US “at children’s bedsides”, under remote guidance of expert radiologists.

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Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients’ future management.

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