BACKGROUND: Biliary atresia (BA) is a progressive neonatal cholestatic liver disease that requires timely diagnosis and intervention. Differentiating BA from other causes of neonatal cholestasis remains a significant clinical challenge.
BACKGROUND: Newborn screening (NBS) enables early detection of metabolic disorders, but current tandem mass spectrometry (MS/MS) methods often lead to false positives and require confirmatory testing, causing diagnostic delays. We evaluated whether i...
BACKGROUND: Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism. Newborn screening (NBS) usually relies on elevated citrulline, but some patients have...
Neonatal hyperbilirubinemia is a common clinical condition that, if not promptly and effectively managed, may lead to rare but severe neurodevelopmental complications. This review traces the historical progression of screening, diagnostic, and therap...
Timely and accurate diagnosis of severe neonatal cerebral lesions is critical for preventing long-term neurological damage and addressing life-threatening conditions. Cranial ultrasound is the primary screening tool, but the process is time-consuming...
We developed a simple protein extraction method for dried blood spots (DBS) that potentially meets the throughput required for newborn screening (NBS) and optimizes nontargeted proteomic analysis in combination with liquid chromatography coupled mass...
Pulse oximetry screening (POS) is a noninvasive tool for the detection of critical congenital heart defects (CCHD) that has moderate sensitivity and high specificity. It is readily accepted by parents and health care professional and has significantl...
BACKGROUND: To evaluate the effectiveness of machine learning (ML) models in predicting the occurrence of retinopathy of prematurity (ROP) and treatment need.
Early diagnosis and access to resources, support and therapy are critical for improving long-term outcomes for children with autism spectrum disorder (ASD). ASD is typically detected using a case-finding approach based on symptoms and family history,...
IMPORTANCE: Retinopathy of prematurity (ROP) is the leading cause of preventable childhood blindness worldwide. If detected and treated early, ROP-associated blindness is preventable; however, identifying patients who might respond to treatment requi...
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