The clinical symptoms of metabolic disorders during neonatal period are often not apparent. If not treated early, irreversible damages such as mental retardation may occur, even death. Therefore, practicing newborn screening is essential, imperative to prevent neonatal from these damages. In the paper, we establish a newborn screening model that utilizes Support Vector Machines (SVM) techniques and enhancements to evaluate, interpret the Methylmalonic Acidemia (MMA) metabolic disorders. The model encompasses the Feature Selections, Grid Search, Cross Validations as well as multi model Voting Mechanism. In the model, the predicting accuracy, sensitivity and specificity of MMA can be improved dramatically. The model will be able to apply to other metabolic diseases as well.
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http://dx.doi.org/10.1007/s10916-009-9287-4 | DOI Listing |
Eur J Pediatr
January 2025
Department of Woman, Child and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli', Via Luigi De Crecchio 4, Naples, Italy.
Unlabelled: Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available.
View Article and Find Full Text PDFNat Med
January 2025
Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHU Liege, University of Liege, Liege, Belgium.
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium.
View Article and Find Full Text PDFIntroduction: Interventions aimed at preventing and treating maternal infections during the gestational period are of paramount importance. Timely immunizations, screening strategies and management of maternal infections reduce the risk of complications for the developing fetus and play a pivotal role in improving neonatal outcomes.
Summary: We summarize evidence for a total of thirteen interventions, pertaining to the prevention and treatment of maternal infections during the antenatal period, from Every Newborn Series published in The Lancet 2014.
Mol Genet Metab
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas.
View Article and Find Full Text PDFSex Transm Dis
November 2024
Keck School of Medicine Department of Population and Public Health Sciences, University of Southern California, California, USA.
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