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Biomedical subjects

R Crook

Publications and source records attributed to R Crook.

59 records · Page 4Linked to original sources

A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.

Although mutations in the beta-amyloid precursor protein gene (APP) on chromosome 21 cause some cases of early-onset Alzheimer's disease (AD), most cases evidently do not have mutations in APP. We analysed ten early-onset families for linkage to APP and markers elsewhere in the genome. One family (F172) was consistent with linkage to chromosome 21 and was subsequently found to have an APP Val to Ile mutation. Of the others, all but one were consistent with linkage to markers in the middle long arm of chromosome 14. However, no family showed independent evidence of linkage with two point analysis and only one showed independent evidence of linkage on multipoint analysis. Therefore, we cannot rule out heterogeneity at these loci although tests for heterogeneity were not significant.

Adult↗

Aortic valvoplasty: comparison of the techniques and results of transeptal and retrograde methods.

Balloon aortic valvoplasty is used in some patients with aortic valve stenosis who are unsuitable for aortic valve replacement. Complications associated with the retrograde approach can be avoided using an antegrade approach which has been less widely described. Experience of these two methods is reported and aspects of the differences in technique are emphasized. Aortic valvoplasty was attempted in 21 patients with severe aortic valve stenosis (mean gradient 65 mmHg). A significant reduction in gradient was achieved in 20 (mean reduction 59% transeptal group [four patients], 50% retrograde group [16 patients]) with symptomatic improvement in 18 patients which was maintained at follow-up (mean interval of 5.2 months, range 1-17 months) in 8/15 patients. There were only two significant, resolvable early complications and increases in aortic regurgitation were not seen. There were six late deaths but three patients improved sufficiently to undergo successful aortic valve replacement. Aortic valvoplasty provides good palliation of symptoms. In patients who are unsuitable for the retrograde approach the antegrade, transeptal approach is a satisfactory and effective alternative.

Aged↗

Urethritis attributable to Neisseria meningitidis, group X: a case report.

Neisseria meningitidis, Group X, was recovered from the anterior urethra of a 27-year-old male patient with urethritis. This isolate represents the first reported recovery of this organism from this anatomic site in association with this disease. He was treated with probenicid by mouth, followed by 4.8 million units of aqueous procaine penicillin G injected intramuscularly and became asymptomatic in three days. His recovery strongly indicates that the meningococcus was the etiologic agent of the urethritis since the condition promptly cleared with penicillin therapy.

Adult↗