Validation of a smartphone-based screening tool (Biliscan) for neonatal jaundice in a multi-ethnic neonatal population.

AIM: Neonatal jaundice is an important and prevalent condition that can cause kernicterus and mortality. This study validated a smartphone-based screening application (Biliscan) in detecting neonatal jaundice. METHODS: A cross-sectional prospective study was conducted at the neonatal unit in a tertiary teaching hospital between August 2020 and October 2021. All babies born at the gestation of 35 weeks and above with clinical jaundice or are recommended for screening of jaundice within 21 days of post-natal age were recruited. Using Biliscan, images of the babies' skin over the sternum were taken against a standard colour card. The application uses feature extraction and machine learning regression to estimate the bilirubin level. Independent Biliscan bilirubin estimates (BsB) were made and compared with total serum bilirubin (TSB) and transcutaneous bilirubin (TcB) levels. Bland Altman plots were used to establish the agreement between BsB and TSB, as well as TcB, using the clinically acceptable limits of agreement of ±35 µmol/L, which were defined a priori. Pearson correlation coefficient was assessed to establish the strength of the relationship between BsB versus TSB and TcB. Diagnostic accuracy was assessed through receiver operating characteristic curve analysis. RESULTS: Sixty-one paired TSB-BsB and 85 paired TcB-BsB measurements were obtained. Bland Altman plot for the entire group showed that 54% (33/61) of the pairs of TSB and BsB readings and 66% (56/85) of the pairs of TcB and BsB readings were within the maximum clinically acceptable difference of 35 µmol/L. Pearson r for BsB versus TSB and TcB was 0.54 (P < 0.001) and 0.66 (P < 0.001) respectively. Compared with TSB, the recommended gold standard measure for jaundice, Biliscan has a sensitivity of 76.92% and specificity of 70.83% for jaundice requiring phototherapy. The positive and negative predictive values in term infants were 93.3% and 36.9%, respectively. CONCLUSION: Our results suggest that there is moderate correlation and mediocre agreement between BsB and TSB, as well as TcB. Improvement to the application algorithm and further studies that include a larger population, and a wider range of bilirubin values are necessary before the tool may be considered for use in screening of jaundice in newborns.

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Cardio-facio-cutaneous (CFC) syndrome (OMIM #:115150, 615278, 615279, 615280) is a rare genetic condition caused by variants in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Up to 75% of cases are caused by mutations in the BRAF gene, whereas KRAS gene mutation has only been reported in <2% of cases. CFC syndrome is characterized by cardiac abnormalities, distinctive craniofacial dysmorphism, and various cutaneous abnormalities. Musculoskeletal and orthopedic manifestations are also prevalent in patients with CFC syndrome, among which the most common are skeletal deformities and joint laxities. Dysplastic bone disorders, on the other hand, have not been reported in CFC syndrome before. We report on a case of symmetrical polyostotic fibrous dysplasia (FD) in a patient with CFC syndrome with the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe variant. The FDs were incidentally picked up, and patient was conservatively managed and remained asymptomatic on follow-up. The same variant was reported previously in a patient with Oculoectodermal Syndrome (OES), who developed polyostotic non-ossifying fibroma (NOF). This case explores FD as a possible new clinical feature of CFC syndrome, and when linked to the historical case of OES, explores whether the KRAS(NM_004985.5):c.57G>C; p.Leu19Phe mutation may potentially contribute to the development of dysplastic bone lesions in patients with this particular mutation.