Infertility caused by bilateral testicular masses secondary to congenital adrenal hyperplasia (21-hydroxylase deficiency).

Two male cousins with partial 21-hydroxylase deficiency presented with bilateral testicular masses and infertility. In both cases, the testicular masses, consisting of adrenocorticotropic hormone-dependent pluripotential cells, were thought to play a major etiologic role in infertility. The administration of very small doses of dexamethasone, given at 11:00 P.M., led to the disappearance of the masses and a subsequent return of fertility. Although 21-hydroxylase deficiency is not by itself an uncommon condition, the presentation of testicular masses with subsequent reversible infertility in two family members with this condition has not previously been described.

Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.

Follow-up of a previously reported family with dominantly inherited adult onset hypophosphatemic osteomalacia with Fanconi syndrome and diabetes mellitus has shown that both the proposita and her affected sister have developed renal glomerular failure. We describe the evolution of renal failure in this family and discuss the possible mechanisms involved. The development of renal tubular acidosis in this condition further impairs renal function and we suggest that correction of systemic acidosis might improve renal function and prevent further decline in these patients.

Tools for chloroplast transformation in Chlamydomonas: expression vectors and a new dominant selectable marker.

Reverse-genetic studies of chloroplast genes in the green alga Chlamydomonas reinhardtii have been hampered by the paucity of suitable selectable markers for chloroplast transformation. We have constructed a series of vectors for the targeted insertion and expression of foreign genes in the Chlamydomonas chloroplast genome. Using these vectors we have developed a novel selectable marker based on the bacterial gene aphA-6, which encodes an aminoglycoside phosphotransferase. The aphA-6 marker allows direct selection for transformants on medium containing either kanamycin or amikacin. The marker can be used to inactivate or modify specific chloroplast genes, and can be used as a reporter of gene expression. The availability of this marker now makes possible the serial transformation of the chloroplast genome of Chlamydomonas.

Flexible urethrocystoscopy in nephrological investigation.

Flexible urethrocystoscopy under local anaesthetic was performed on 100 patients as part of their nephrological investigations. This was carried out by a nephrologist, obviating the previous practice of referral to a surgical colleague for rigid instrumentation under general anaesthetic. A pathological diagnosis was made in 69 patients with flexible urethrocystoscopy alone; 17 patients required subsequent rigid cystoscopy to obtain or confirm a diagnosis. Thirty-four patients had normal examinations and of these 13 underwent renal biopsy for diagnosis. Considerable savings in theatre time, man-hours and anaesthetic risk to the patients were made without compromising diagnostic accuracy or patient wellbeing.

C-reactive protein in acute renal failure.

This paper demonstrates the utility of C-reactive protein (CRP) in the diagnosis of infection in patients with acute renal failure. C-reactive protein can be assayed using plasma as effectively as using serum, thus avoiding the problems of microclots in serum, which can occur in samples from a heparinised patient. Plasma concentrations of C-reactive protein are unaffected by the process of haemodialysis. In the complicated setting of the severely ill patient with acute renal failure, infection remains the most common cause of death and its detection is often difficult. The use of C-reactive protein assay in this setting is illustrated by data from 20 patients, and two representative cases are described in detail. It is recommended that C-reactive protein be assayed daily to aid in the detection of infection in patients with acute renal failure.

Reperfusion of the ischemic canine myocardium: effect on vascular exchange and resistance.

In order to see if changes in hemodynamic resistance following reperfusion of ischemic myocardium could be related to alterations in microvascular exchange, we measured resistance (R), permeability surface-area for sucrose (PS), and distribution volumes for tritiated water (V) and for sucrose (VS) in nine anesthetized dogs in which blood to the left anterior descending coronary artery was supplied via a shunt from the carotid artery. Measurements were made during four periods: baseline, reduced coronary artery flow, reperfusion, and a second period of reduced flow. Increase in resistance following reperfusion (R2 = 1.8 +/- 3, R4 = 2.5 +/- .5 mmHg/min/ml, mean +/- s.e.m.) was significantly greater than in nine control dogs in which reperfusion was omitted. Also, the series of interventions including reperfusion lowered PS and V (PS4/PS1 = .54 +/- .07, V4/V1 = .58 +/- .08). Our results suggest that increases in resistance due to reperfusion may be accompanied by a loss in functioning capillary surface area.