Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

Zinc finger protein, FOG2 family member 2 (ZFPM2) (previously named FOG2) gene defects result in the highly morbid congenital diaphragmatic hernia (CDH) in humans and animal models. In a cohort of 275 CDH patient exomes, we estimated the prevalence of damaging ZFPM2 mutations to be almost 5%. Genetic analysis of a multigenerational family identified a heritable intragenic ZFPM2 deletion with an estimated penetrance of 37.5%, which has important implications for genetic counseling. Similarly, a low penetrance ZFPM2 frameshift mutation was observed in a second multiplex family. Isolated CDH was the predominant phenotype observed in our ZFPM2 mutation patients. Findings from the patients described herein indicate that ZFPM2 point mutations or deletions are a recurring cause of CDH.

The evaluation of a humidifying device for vitreoretinal surgery.

AIM: To study the feasibility of humidifying air during vitreoretinal surgery and measure the water content of air before and after intraocular transit. METHODS: The absolute water content of air was measured in a series of six eyes undergoing fluid-air exchange during macular hole surgery. Infrared absorption spectroscopy was used to determine the water content of the air infusing and exiting each eye. After baseline measurements for each eye were recorded, a second fluid-air exchange was performed and the effect of humidifying the air infusion was documented. The humidifying device used in this study was a prototype adapted from a commercially available respiratory humidifier and enables humidified air to be delivered at a controlled temperature. RESULTS: The water content of air increased following intraocular transit, implying dehydration occurs from the intraocular surfaces. For a standard airline infusion the mean increase in water content of air egressing from an eye was 13.4 mg/l. Humidifying the air reduced the rate of water loss by nearly 90%. CONCLUSIONS: Significant water losses can occur from eyes undergoing fluid-air exchange. Humidifying the infused air can substantially reduce the dehydrating effect during an air exchange. This outcome may have a beneficial effect in reducing cataract formation and visual field defects associated with macular hole surgery.

FOCUS on preparation for RSV season.

The purpose of this article is to describe one institution's successful program to deal with the many challenges incurred by a pediatric service during the Respiratory Syncytial Virus (RSV) season. RSV is a winter phenomenon that appears each year in communities across the globe and results in up to a 60% increase in admissions to children's hospitals and pediatric units. This increase places a huge demand on healthcare institutions, for the census and intensity of illness requires additional qualified pediatric nurses, physicians, and respiratory therapists as well as additional bed space and equipment. This institution developed strategies to cope with RSV, including using work force teams and the continuous quality improvement (CQI) process.

Endoscopic placement of jejunal feeding catheters in critically ill patients by a "push" technique.

BACKGROUND: Enteral nutrition is less expensive and often preferred to parenteral nutrition in the critically ill or injured patient. Gastric feedings are poorly tolerated in some patients, however, and postpyloric access is frequently difficult to obtain. In this report, we describe our experience with a new technique for bedside endoscopic placement of small intestinal feeding tubes. METHODS: Using both prospective and retrospective analysis, we studied our results with endoscopically placed postpyloric feeding tubes in intensive care unit (ICU) patients. In this method, a 7F nasobiliary tube is passed via an endoscope into the proximal small bowel by a "push" technique. We recorded the demographic data of the patients, the feeding regimens subsequently used for these patients, and the overall feasibility and complications of the procedures themselves. RESULTS: The technique was performed on 71 occasions in 61 ICU patients. The entire procedure averaged 29 minutes in a prospectively evaluated subset of patients. Small intestinal cannulation was successful in every case, including cases in which fluoroscopic attempts had failed. No complications developed from placement of the feeding tubes. CONCLUSION: This report demonstrates that our bedside method of endoscopic placement of proximal small-bowel feeding tubes may be safely and expediently performed in ICU patients. Although not yet formally compared with other techniques, this procedure may have some advantages over traditional methods of small-bowel feeding tube placement.

Malabsorption associated with surgical procedures and its treatment.

Signs and symptoms of malabsorption after surgical procedures can be subtle and recognized late. This article reviews some of the more common surgical procedures potentially associated with malabsorption and suggests techniques of nutrition intervention. Early recognition, and preferably preventative care, should result in improved patient outcome.