In patients with mucopolysaccharidosis I, treatment with recombinant human alpha-L-iduronidase reduces lysosomal storage in the liver and ameliorates some clinical manifestations of the disease.

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To our knowledge, our solution is the first murmur classifier that focuses singularly on Still's murmur. Following further refinement and testing, the presented algorithm could reduce the number of children with Still's murmur referred unnecessarily to pediatric cardiologists.

We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. The condition may resemble the malformation complex associated with developmental deficiency of vitamin A or retinoic acid, as described in animal models.

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The major ethical issues involved in decision-making in the care of extremely low birth weight newborns are analyzed here. We propose a schema for assessment and management of these infants that is consistent with ethical principles broadly accepted by the pediatric community, and which takes into account mortality risk at any given institution rather than arbitrary weight limits, with a major decision-making role for the infant's parents. When possible, the decision of whether or not to resuscitate should be made before delivery; when not possible, delivery room resuscitation is recommended, and the decision to continue or withdraw care should be made subsequently based on likelihood of survival and the wishes of the parents.

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BackgroundStill's murmur is the most prevalent innocent heart murmur of childhood. Auscultation is the primary clinical tool to identify this murmur as innocent. Whereas pediatric cardiologists routinely perform this task, primary care providers are less successful in distinguishing Still's murmur from the murmurs of true heart disease. This results in a large number of children with a Still's murmur being referred to pediatric cardiologists.ObjectivesTo develop a computer algorithm that can aid primary care providers to identify the innocent Still's murmur at the point of care, to substantially decrease over-referral.MethodsThe study included Still's murmurs, pathological murmurs, other innocent murmurs, and normal (i.e., non-murmur) heart sounds of 1,473 pediatric patients recorded using a commercial electronic stethoscope. The recordings with accompanying clinical diagnoses provided by a pediatric cardiologist were used to train and test the convolutional neural network-based algorithm.ResultsA comparative analysis showed that the algorithm using only the murmur sounds recorded at the lower left sternal border achieved the highest accuracy. The developed algorithm identified Still's murmur with 90.0% sensitivity and 98.3% specificity for the default decision threshold. The area under the receiver operating characteristic curve was 0.943.ConclusionsStill's murmur can be identified with high accuracy with the algorithm we developed. Using this approach, the algorithm could help to reduce the rate of unnecessary pediatric cardiologist referrals and use of echocardiography for a common benign finding.