Testicular mass in a resting cell.
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Biomedical subjects
Publications and source records attributed to D Cochlin.
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The series comprises 6 patients (mean age, 21 years) who presented with an epidermoid cyst of the testis between 1991 and 1998. Pre-operative ultrasonography suggested the presence of a testicular cancer in 3 patients who underwent a radical orchidectomy. The ultrasound successfully predicted the true diagnosis in 3 patients who had a wedge excision of the cyst together with a cuff of normal surrounding tissue. All patients are free of disease with a mean follow-up of 3 years. With increasing awareness of the condition coupled with accurate pre-operative radiological imaging, local excision of an epidermoid cyst with preservation of the remainder of the testis is now a feasible and rational alternative to more radical surgery.
Renal transplant rejection is frequently difficult to differentiate from other causes of renal dysfunction. This study examined the use of duplex Doppler ultrasound and intrarenal manometry in a consecutive series of 73 patients who underwent renal transplantation. Altogether 327 duplex scans were analyzed and, for each, a resistive index (RI) was calculated. A raised RI predicted rejection in patients with grafts that functioned immediately, but not in those that had delayed function. A rise in intrarenal pressure ( greater than or equal to 40 mmHg) indicated the presence of rejection in both groups. However, neither test had a sensitivity of more than 71% and this was not improved by combining the results of the two tests for each patient. Although both tests have a place in transplantation, renal biopsies may still be required to confirm rejection.
A genetic register of all known cases of autosomal dominant polycystic kidney disease occurring in South and Mid-Wales has been established. In a population of 2.1 million, 209 families with affected members were identified, 303 of whom are currently alive, 70 on renal replacement therapy. An additional 551 cases would be predicted amongst family members at 50 per cent and 25 per cent risk, giving an apparent prevalence of 1:2459 in the general population. Five possible new mutations were seen where adults with phenotypic autosomal dominant polycystic kidney disease had both parents alive, age greater than 55 years with no cysts visible on ultrasound. The take-on rate for renal replacement therapy increased during 1970-79 but has apparently reached a plateau of 4.8 cases per million population per year over the last 8 years, despite a rapidly increasing acceptance of uraemic patients as a whole (72/10(6)/year in 1988-89). Considerably more patients with autosomal dominant polycystic kidney disease aged over 50 years were started on treatment in 1980-89 than in 1970-79, but the survival overall improved with time. All cases of autosomal dominant polycystic kidney disease reaching end-stage renal disease are now being treated, but the apparent clinical prevalence of this condition in our region is less than half the supposed gene frequency, suggesting that undiagnosed cases have a benign prognosis.
A population study of Perthes' disease in South Wales over a 25-year period has shown a low risk of the disorder in relatives. The risk of Perthes' disease in sibs is under 1% (2 in 323), while the risk to children of an children of an affected parent is about 3% (1 in 35) when adjusted for age of onset. No increased risk was found in relatives of patients with bilateral as compared with unilateral Perthes' disease. A mating between two affected individuals resulted in monozygotic twins concordant for Perthes' disease, but no familial concentration to suggest the action of a single major gene was found. The importance of excluding generalised disorders which may mimic Perthes' disease and may show Mendelian inheritance is emphasised, but it is concluded that true Perthes' disease has a relatively minor genetic component.