Background And Objectives: Pompe disease (PD) results from a deficiency of lysosomal acid α-glucosidase that leads to glycogen accumulation in lysosomes in multiple tissues. There are two phenotypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). The objective was to evaluate the diagnostic and follow-up outcomes of children identified with PD through newborn screening (NBS) in the state of Minnesota over a 4-year period.
View Article and Find Full Text PDFNewborn screening has evolved since its introduction in 1963. The disorders that are being screened for continue to evolve as new treatments and new technologies advance. In this review, the authors discuss the current state of newborn screening in the United States, including the disorders currently being screened for and how newborn screening is performed.
View Article and Find Full Text PDFAfter reviewing the various etiologies that can contribute to a presentation of aggressive behavior in a child (see part 1), a physician should conduct a thorough history and physical examination. The history should be obtained from the patient and caregivers, both together and separately in adolescents. A good physical examination starts with assessment and interpretation of vital signs, followed by a head-to-toe examination focusing on the skin, eyes, and thyroid, and then a neurologic examination.
View Article and Find Full Text PDFChildren and adolescents are increasingly presenting to the hospital and emergency department with aggressive behavior and psychiatric emergencies. The rise in pediatric mental health problems, coupled with a lack of much needed resources, necessitates that pediatricians safely diagnose and treat patients presenting with aggressive behavior. In this article, we discuss the broad differential diagnosis that should be considered when initially evaluating a patient presenting with aggression or altered mental status; underlying causes include predisposing factors, comorbid conditions, and acute organic causes involving almost every organ system.
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