Calciphylaxis – a topical overview

'Calciphylaxis', a calcification syndrome associated with ischaemic cutaneous necrosis, is acquired naturally in humans in disease states. It is a life and limb-threatening complication, usually observed in patients with renal disease and secondary hyperparathyroidism, but known to occur in the absence of renal or parathyroid disease. The reported mortality rate, which ranges from 60-80%, relates to wound infection, sepsis and organ failure. It is a small-vessel vasculopathy, which is estimated to occur in about 4% of haemodialysis patients. Clinically, violaceous, reticulate areas of cutaneous necrosis and eschar may be evident, particularly in the extremities. In addition to the clinical picture, a raised calcium phosphorous product, an elevated parathyroid hormone level, radiographic evidence of vessel and soft-tissue calcification and the finding of mural calcification affecting small arteries and arterioles on histopathology help to confirm the diagnosis of this entity which generally has a poor prognosis. A high index of suspicion and an active multidisciplinary management approach, with rigorous attention to wound care and prevention of sepsis, are vital in the management of these patients. In this overview, we discuss the pathophysiology, clinical features and associations, risk factors, diagnosis and management issues relating to calciphylaxis.     

Dislocation after total hip arthroplasty. Causes and prevention

In this prospective study, a technique of positioning the acetabulum by bony landmarks of the pelvis in the standing position was developed using a standing lateral preoperative roentgenogram with the X-ray tube centered over the trochanter. Since 1984, 441 total hip arthroplasties (THAs) were done through the posterior approach with a 1.14% dislocation rate through 1988 and no dislocations in 1989. To prevent impingement and dislocation, it was determined that the safest range for cup position was 30 degrees-50 degrees abduction and 20 degrees-40 degrees flexion from the horizontal. To measure postoperative cup position, a standing true lateral roentgenogram of the operated hip allowed direct measurement of cup flexion and was reproducible within 10 degrees. No special instruments are necessary for this technique, which can be used with any THA system.     

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy

The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal- specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.      

Comparison between testosterone oenanthate-induced azoospermia and oligozoospermia in a male contraceptive study. IV. Suppression of endogenous testicular and adrenal androgens

Administration of supraphysiological doses of testosterone to normal men causes inhibition of spermatogenesis, but while most become azoospermic, 30-55% maintain a low rate of spermatogenesis. We have investigated whether there are differences in endogenous androgen production, of testicular and adrenal origin, which may be related to the degree of suppression of spermatogenesis. Thirty-three healthy Caucasian men were given weekly i.m. injections of 200 mg testosterone oenanthate (TE), 18 became azoospermic, while 15 remained oligozoospermic. Urinary excretion of epitestosterone, a specific testicular product, was reduced to <10% of pretreatment values, with no differences between the groups. Similar results were obtained for other markers of testicular steroidogenesis. Urinary and plasma adrenal androgens were also reduced during TE treatment: a statistically significant decrease in both (P < 0.001 and P < 0.05 respectively) was seen in the azoospermic but not oligozoospermic responders. These results suggest that testicular steroidogenesis is decreased to <10% by the administration of supraphysiological doses of exogenous testosterone. Differences in the degree of ongoing steroidogenesis in the testis do not appear to account for incomplete suppression of spermatogenesis, thus differences in androgen metabolism may underlie this heterogeneous response. A small but significant reduction in secretion of adrenal androgens was also detectable, the relevance of which is unclear.      

A locus for autosomal dominant anterior polar cataract on chromosome 17p

Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained significant positive LOD scores for markers D17S849 (Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these two markers. From haplotype analysis, the cataract locus lies in the 13 cM interval between markers D17S849 and D17S796. This study provides the first genetic mapping of an autosomal dominant anterior polar cataract.      

High tibial osteotomy: a retrospective review of 72 cases

Past experience has shown that the results of high tibial osteotomy are difficult to predict. The purpose of this review was to correlate preoperative findings with postoperative results to define more precisely the indications and contraindications and to improve results. Between 1970 and 1983, 72 high tibial osteotomies for osteoarthritis were done at Duke University Medical Center by one surgeon using a consistent surgical technique. Fourteen complications were identified in 72 knees. The only one causing a persistent problem was a fracture of the tibial plateau. Forty-five knees in 38 patients were available for follow-up at an average of six years (range 1.5 to 15.0 years). Results in 15 knees (33%) were classified as "good" (pain free), in 20 knees (44%) as "fair" (improved), and in ten knees (22%) as "poor" (unchanged or worse). Three patients with fair results subsequently had total knee arthroplasty at least nine years after the osteotomy, and two of those with poor results received total knee replacement within two years of the tibial osteotomy. Measurements obtained from standing roentgenograms revealed an average of 3 degrees of preoperative varus and 8 degrees of postoperative valgus, for an average correction of 11 degrees. There was no statistically significant correlation between preoperative measurements of joint space or alignment and postoperative result. This review indicates that preoperative standing films of the knee alone are not a reliable indication for patient selection.