Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.

Contamination resulting from aerosolized fluid during laparoscopic surgery.

BACKGROUND AND OBJECTIVES: Aerosolized droplets of blood can travel considerable distances on release of intra-abdominal pressure during laparoscopic surgery. This creates an environmental hazard for members of the surgical team. This study describes and provides a method of measurement of aerosolized blood contamination during evacuation of the pneumoperitoneum in laparoscopic surgery. METHODS: Samples were measured by removing a trocar from the abdomen while a pneumoperitoneum of 15 mm Hg was present. A white poster board was placed 24 inches above the incision to catch the released blood spatter. By use of machine vision, luminol fluorescence, and computerized spatial analysis, data from the boards were recorded, analyzed, and scored based on the distance, size, and quantity of particulate contamination. RESULTS: We analyzed 27 boards. Spatter was present on every board. The addition of luminol to the boards increased the amount of visible spatter. Most tests created <1000 blood spatters. Fluids are typically ejected as a fine mist. Every test included at least 1 blood spatter. The range of the average blood spatter size was 0.53×10(-3) to 7.11×10(-3) sq in. The amount of spatter detected did not show any apparent correlation with the patient's body mass index, the estimated blood loss, or the type of operation performed. CONCLUSIONS: Evacuation of the pneumoperitoneum during laparoscopic surgery results in consistent contamination. Most blood spatter is not visible to the naked eye. Our results suggest that all surgical participants should wear appropriate protective barriers and conscious measures should be undertaken to prevent environmental contamination during pneumoperitoneal evacuation.