Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

Background: SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice.

The effect of common origin of the carotid arteries in neurologic outcome after neonatal ECMO.

Background: Common origin of the carotid arteries (COCA) is a normal anatomic variant reported to occur in approximately 11% of the general population. The objective of this study was to determine whether this variant places venoarterial extracorporeal membrane oxygenation (ECMO) patients at a higher risk for adverse neurologic sequelae owing to potential occlusion of both carotid arteries by the arterial cannula.

Methods: The authors reviewed clinical records and echocardiograms of the initial 220 ECMO patients at their institution.

Surveillance of ventilator-associated pneumonia in very-low-birth-weight infants.

Background: Surveillance of ventilator-associated pneumonia (VAP) is an essential part of quality patient care. Very-low-birth-weight (VLBW) infants, many with tracheal microbial colonization and bronchopulmonary dysplasia (BPD), comprise a difficult group in whom to make a diagnosis of pneumonia with the Centers for Disease Control and Prevention (CDC) criteria for infants younger than 1 year.

Objective: Our objective was to retrospectively compare VAP surveillance diagnoses made by the hospital infection control practitioner (ICP) with those made by a panel of experts with the same clinical and laboratory evidence and supportive radiologic data.