Management of pneumothorax in adults with cystic fibrosis.

The histories of 243 adults with cystic fibrosis were reviewed; 46 had experienced one or more spontaneous pneumothoraces (18.9%), and seven had died of this complication. There was a high incidence of recurrence on the same side after conservative management (50%) or intercostal drainage (55.2%). Prolonged intercostal drainage was associated with a high mortality. One-third of patients required surgical treatment. Twenty thoracotomies were performed. Three of these patients died but only two of the 17 survivors had recurrences. Severe airflow obstruction was not a contraindication to surgery. A plan of management for future cases is outlined.     

Primary linitis plastica carcinoma of urinary bladder

Primary linitis plastica type carcinoma of the urinary bladder in a sixty-one-year-old man is described. Only 2 other cases have been reported in the English medical literature.     

Blood selenium values in an adult Auckland population group.

New Zealand top soils are low in selenium with some regional variation. Grain and cereal products are the main source of dietary selenium intake but in New Zealand their content is low due to widespread top soil deficiency. Whole blood levels reported from Oago, 68 +/- 13ng/ml, are a half to one-third of those in North America and also lower than in Auckland residents, 79 +/- 15.7ng/ml. The variation between New Zealanders is due to regional differences in top soil levels and grass content affecting secondary selenium sources such as sheep meat and beef. Regular consumption of selenium rich chicken and fish is associated with a significant increase above average values, but age, sex, smoking, alcohol and the use of oral contraceptives, are unimportant factors.     

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.     

Self-limiting extravasation in the unused urinary bladder

Patients being evaluated as potential renal transplant recipients routinely undergo voiding cystourethrography. Eight patients were encountered in whom extraperitoneal extravasation was noted from the region of the ureterovesical junction during voiding (seven patients) or during filling (one patient). Extravasation was bilateral in six patients and unilateral in two. The patients neither experienced symptoms related to the extravasation, required treatment, nor had sequelae. Five of the eight patients have subsequently received renal transplants and their bladders were observed to be normal at surgery. Cystoscopy was also performed in two of these five patients and was unremarkable. After transplantation, these patients' bladders functioned normally and gave rise to no symptoms.