Assessing management practices for variants of uncertain significance among genetic counselors in pediatrics.

Increased utilization of genomic sequencing in pediatric medicine has increased the detection of variants of uncertain significance (VUS). Periodic VUS reinterpretation can clarify clinical significance and increase diagnostic yield, highlighting the importance of systematic VUS tracking and reinterpretation. There are currently no standardized guidelines or established best practices for VUS management, and our understanding of how genetic counselors (GCs) track and manage VUS results for pediatric patients is limited.

Absence of device-device interaction (DDI) in a patient with cardiac and diaphragmatic pacemakers for congenital central hypoventilation syndrome.

Autonomic control of ventilation is impaired in patients with Ondine's curse or congenital central hypoventilation syndrome (CCHS), but voluntary control remains intact. Bradyarrhythmias can be life threatening. In a patient with CCHS and long sinus pause requiring cardiac pacemaker insertion, a diaphragmatic pacemaker inserted in early childhood caused diaphragmatic pacer spikes observed during the interrogation of the cardiac pacemaker.

A quality improvement team on autologous and directed-donor blood availability.

Background: Until 1985, volunteer donors provided blood for almost all transfusions and donated blood was rarely restricted for transfusion to a specific patient. With the AIDS (Acquired Immunodeficiency Syndrome) crisis, autologous (blood from oneself) and directed (blood from families and friends) donations increased, calling for handling of far greater complexity. At the University of California at San Francisco Medical Center, the demand for special donations superseded the development of systems to meet the demand and autologous and/or directed donations were often not available when needed.

Magnetic resonance imaging of normal and abnormal brain development.

Magnetic resonance imaging (MRI) improves our ability to assess brain development and to detect anomalies of brain formation. MRI allows the assessment of brain development by analysis of the effects of myelination on the T1 and T2 relaxation times of the pediatric brain. This article discusses specific imaging strategies and the normal progression of signal intensity changes.