Prophylactic mastectomy and genetic testing: an update.

PURPOSE/OBJECTIVES: To examine and discuss the possible benefits and difficulties with recommending prophylactic mastectomy to BRCA1- and BRCA2-positive women. DATA SOURCES: Published research articles, professional review articles, textbooks. DATA SYNTHESIS: Women with BRCA1 and BRCA2 mutations face a much higher risk of developing breast cancer than the general population, with limited options available for prevention. Prophylactic mastectomy has been shown to have a survival advantage in young women who carry BRCA1 and BRCA2 mutations. Challenges exist, however, in the use of prophylactic mastectomy and genetic testing. CONCLUSIONS: Methods of preventing breast cancer in BRCA1- and BRCA2-positive women currently are limited to watch-and-wait surveillance, prophylactic mastectomy, and, perhaps, chemoprevention. Genetic testing and prophylactic mastectomy each present unique challenges while offering certain benefits as well. Recent studies have shown survival advantages to BRCA1- and BRCA2-positive women who undergo prophylactic mastectomy. IMPLICATIONS FOR NURSING PRACTICE: Nurses need to be aware of the complex issues surrounding testing for BRCA1 and BRCA2 mutations and prophylactic mastectomy to be able to provide current information to patients and assist in decision making.

Management strategy in purpura fulminans with multiple organ failure in children.

Purpura fulminans (PF), which describes the necrosis of soft tissue secondary to diffuse microvascular thrombosis induced by transient protein C deficiency associated with meningococcal sepsis, is unusual despite the approximately 15000 cases of bacterial meningitis which occur annually in the USA. PF has a reported mortality of 50 per cent secondary to multiple organ failure which commonly accompanies the syndrome and is associated with major long-term morbidity in those who survive. Children who develop multiple organ failure in association with purpura fulminans are difficult management problems and benefit from the unique surgical and critical care resources available in burn centres. We describe our recent experience with three such patients and suggest a management strategy, the key components of which include early excision and closure of deep wounds, aggressive critical care management and long-term follow-up should delayed epiphyseal growth occur.

The burn unit as a resource for the management of acute nonburn conditions in children.

Burn units bring together resources to manage large complex wounds, organ failures, and the hypermetabolic response to injury. These resources can also facilitate management of other problems such as purpura fulminans, toxic epidermal necrolysis, staphylococcal scalded skin syndrome, and major mechanical soft-tissue injuries. During a recent 10-year interval 2.4% of all acute admissions to a regional pediatric burn facility were in this category and form the basis for this review.

Zinc and copper status of severely burned children during TPN.

Alterations in zinc (Zn) and copper (Cu) homeostasis have been reported during the acute recovery period following thermal injury in both children and adults. Increased urinary losses of Zn and Cu and decreased plasma concentrations of Zn, Cu, and ceruloplasmin (CP), the major copper transport protein, occur despite adequate provision of these elements in enteral feedings. We now report data for moderately to severely burned children receiving total parenteral nutrition (TPN) supplemented to provide Zn and Cu. Hyperzincuria occurred consistently when 50 micrograms/kg Zn was delivered daily to older children. Similarly, when younger children received 100 micrograms/kg Zn daily, profound hyperzincuria ensued despite a reduction in total plasma Zn. Hypozincemia was accompanied by low levels of Zn in the plasma subfraction normally associated with albumin-bound Zn. The delivery of Cu via TPN was 4-12 micrograms/kg daily, and urinary Cu losses were not elevated. Plasma total Cu and plasma CP were invariably reduced. These findings are discussed in relation to guidelines published for pediatric trace element supplementation during TPN.

Percutaneous gastrostomy with gastropexy: experience in 125 patients.

We report our experience with radiologically guided percutaneous tube gastrostomy in 125 patients by using a gastropexy technique in which the anterior gastric wall is nonsurgically sutured to the anterior abdominal wall with percutaneously placed T-fasteners before catheter insertion. Short-term follow-up of up to 2 weeks was available in all patients. In 63 patients, long-term follow-up (greater than 4 weeks; average, 3.5 months; maximum, 1 year) was available. Catheter placement was successful in 124 (99%) of 125 patients, including three patients with anatomic changes after Bilroth II hemigastrectomy and two patients with failed endoscopic attempts. There were no deaths related to the procedure, and no patients required surgical intervention for complications attributable to the gastrostomy procedure. The 30-day mortality rate was 11% (n = 7). These deaths were due to cardiorespiratory arrest and were not attributable to the gastrostomy procedure. Major complications occurred in 1.6% (n = 1) and minor complications in 9.5% (n = 6). These results indicate that percutaneous gastrostomy with gastropexy is a safe and effective technique for placement of catheters in the stomach.

Significant reductions in mortality for children with burn injuries through the use of prompt eschar excision.

During the past 19 years, mortality due to burn injuries has markedly declined for children at the Boston Unit of the Shriners Burns Institute (SBI), dropping from an average of 9% of SBI admissions during 1968-1970 to an average of 1% during 1981-1986. Detailed statistical analysis using logistic regression was necessary for determining whether this decline in mortality was explained by changes in patient characteristics, such as age or burn size, which are known to strongly influence the outcome of burn injuries. This dramatic decline in mortality during the past 19 years was not the result of change in the age of the patients or their burn sizes; rather, it may be attributed to improvements in burn care. Results of this statistical analysis indicated that, for burn injury patients whose ages ranged from 11 days to 19 years, age had no demonstrable effect on survival from a burn injury. Children survived burn injuries at least as well if not better than the young adult (20-29 years of age). Also, infants (less than 1 year old) survived as well as other children (2-19 years old). Dramatic improvement in survival occurred in patients with burns covering more than 50% of the body surface area. Since 1979, mortality has been essentially eliminated for patients with burn sizes less than 70% of the total body surface area (of 296 patients with burns covering 15-69% of the total body surface area, only two patients died). During the period 1979-1986, 29 of 37 patients (78%) survived an 80% or greater total body surface area thermal injury.

Distal revascularization and microvascular free tissue transfer: an alternative to amputation in ischemic lesions of the lower extremity.

Most lower extremity amputations result from complications of diabetes and arterio-sclerotic occlusive diseases below the inguinal ligament. Improved limb salvage has been achieved by an aggressive approach to distal revascularization in the severely ischemic lower extremity. There remains, however, a high incidence of amputation resulting from progression of the ulceration or gangrene into deeper and less well-vascularized tissues, such as tendon and bone. Even in the nonischemic extremity, such wounds rarely heal without flap coverage. Microvascular free tissue transfers promote healing by providing coverage with healthy, nondiseased, well-vascularized tissue for these difficult defects. Successful free flap transfer requires a high-pressure recipient inflow vessel. In contrast to individuals with nonarteriosclerotic lesions, many individuals with nonhealing ischemic lesions have no acceptable artery demonstrated on high-resolution angiography to serve as a recipient vessel. Limb salvage has been achieved in four candidates for amputation utilizing distal revascularization followed by free tissue transfer coverage of the ischemic lower leg defects.