Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Nonketotic hyperglycinemia (NKH) is an inborn error of the glycine metabolism. A 9-year-old boy with learning disability and intermittent choreoathetosis during febrile illnesses had elevated plasma glycine level and CSF/plasma glycine ratio (0.044) and a novel homozygous missense mutation (c.

The impact of a personal digital assistant (PDA) case log in a medical student clerkship.

Background: Medical education literature emphasizes that reflection and self-audit are pivotal steps in learning and that personal digital assistants (PDAs) have potential as decision support tools.

Description: The purpose was to examine the efficacy of PDA-based resources and patient-encounter logging systems among 3rd-year medical clerks during pediatrics rotations.

Evaluation: Students in rotations were assigned to control (using paper-based logs and references) or intervention groups (using PDA-based logs and resources).

Nocturnal oxygen saturation and painful sickle cell crises in children.

The pathogenesis of acute painful crisis in children with sickle cell disease is poorly understood; suggested risk factors include sickle cell type, severity of anemia, fetal hemoglobin concentration, and hypoxemia from upper airway obstruction. In a cohort study of 95 patients the relationship between clinical, laboratory, and sleep study data and frequency of painful crisis was investigated. Both univariate and multiple regression modeling showed that low nocturnal oxygen saturation was highly significantly associated with a higher rate of painful crisis in childhood (P <.