Biomedical subjects
Publications and source records attributed to J R MacFarlane.
Varicella Zoster affecting the sacral dermatomes is a rare but well recognised cause of urinary retention. Only one case of erectile dysfunction associated with Varicella Zoster has previously been described, which was longstanding, but no cases of transient erectile dysfunction following Zoster infection are recorded. We present one such case.
Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual families. Here, we report nine novel mutations in L1 in 10 X-linked hydrocephalus families. Four mutations truncate the L1 protein and eliminate cell surface expression, and two would produce abnormal L1 through alteration of RNA processing. A further two of these mutations are small in-frame deletions that have occurred through a mechanism involving tandem repeated sequences. Together with a single missense mutation, these latter examples contribute to the growing number of existing mutations that affect short regions of the L1 protein that may have particular functional significance.
The initial investigation and diagnosis in 28 patients with posterior urethral trauma are presented. Twenty-five patients underwent either primary realignment for complete rupture or cystostomy alone for partial rupture. The results of their management are reported.
Seventeen patients with stage T3 bladder cancer were treated in a pilot study of initial chemotherapy (four courses of cyclophosphamide, methotrexate and 5-fluorouracil) followed by megavoltage radiotherapy 6000 cGy) to the bladder. Chemotherapy was well tolerated and did not lead to any increase in toxicity from the radiotherapy. Assessment of response in all cases was not possible because of the variable extent of the initial biopsy. Of the 12 patients in whom assessment was possible, there was no objective change in 9 (4 cases of T3a; 5 cases of T3b) and there was objective evidence of disease progression in 3 (2 cases of T3a; 1 case of T3b). Thirteen patients have now died and the median survival for patients in this study was 27 months, with a 3-year survival rate of 26%. Three patients died with recurrence in the pelvis, 5 with both local and metastatic disease, 2 with metastases only, and 3 from other causes. These data indicate that this particular form of chemotherapy given as initial treatment for T3 bladder cancer does not appear to lead to an improvement in the results obtained from radiotherapy alone.
A non-steroidal antiandrogen (flutamide) was used to treat 17 patients with advanced prostatic cancer. Twelve of 14 patients who had already failed to respond to conventional hormone therapy were dead within 12 months of starting flutamide therapy and there was a high incidence of side effects. Of three patients who had not received prior hormone therapy, two showed an early partial response and one showed no evidence of response to therapy.
Twenty-five patients with early transitional cell carcinoma of the bladder (Tis Ta T1) received intravesical instillations of 40 mg mitomycin C in 40 ml water weekly for 7 weeks. The overall response rate was 70% (complete response 40%). In patients with Ta tumours the response rate was 86%. Minor toxic side effects occurred in four patients and only one patient was unable to complete the course of treatment because of side effects.
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