Nesidioblastosis in children

Three cases in which seizure disorder was first noticed were examined in the last seven years; low fasting glucose and high serum insulin levels then led to the diagnosis of severe hypoglycemia secondary to nesidioblastosis. Hypoglycemic episodes were uncontrolled by frequent oral feedings and intravenous administration of dextrose, glucagon, and diazoxide. Within three weeks after diagnosis, all three patients underwent subtotal pancreatectomy; all three survived and have been followed-up for two to seven years. Two remain euglycemic and have no evidence of CNS damage. The third has occasional fasting hypoglycemia that is treated with diazoxide; he continues to have a seizure disorder and is mentally retarded. Neonatal hypoglycemia secondary to hyperinsulinism requires prompt recognition and aggressive treatment to avoid irreversible CNS damage. Subtotal pancreatectomy safely and effectively restores the euglycemic state.     

Functional characterization of novel presenilin-2 variants identified in human breast cancers

We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD). The role of these alleles in FAD is unclear, but neither allele affected Abeta(42)/Abeta(40) ratio. However, both R62H and R71W alterations compromised PS-2 function in Notch signaling in Caenorhabditis elegans and cell growth inhibition in mouse embryonic fibroblasts, and these effects were dependent on gene dosage. We found that both alterations enhanced the degradation of the PS-2 full-length protein, indicating that they may have a loss-of function effect. The effect of the R71W alteration was noticeably stronger, and we observed an almost threefold higher frequency of this allele in breast cancer cases versus controls, but this difference did not reach statistical significance. Nonetheless, these results collectively suggest that the novel PS-2 alleles described here, especially R71W, affect PS-2 function and may potentially confer a moderate risk of susceptibility to breast cancer.     

Coronary artery bypass surgery in elderly patients

Seventy-five patients 65 years of age and older had coronary artery bypass surgery during 2 years at Scott and White Memorial Hospital with a 4 per cent mortality rate. An average of 3.1 grafts were placed and 5.1 units of blood were used during 13 days of postoperative hospitalization. Sixty-one patients were in New York Heart Association Class IV, 12 were in Class III, and 2 had other indications for coronary artery bypass. One year following surgery there were 60 patients in Class I, 6 in Class II, 3 in Class III, and 1 in Class IV; 1 patient was dead, and 4 were lost to follow-up. Our conclusion is that coronary artery bypass grafting can be performed with an acceptable mortality rate in the elderly and that age alone should not be considered a contraindication to the operation.