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Biomedical subjects

B J Stoodley

Publications and source records attributed to B J Stoodley.

9 recordsLinked to original sources

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous gastrointestinal polyps and pigmented perioral lesions, PJS is associated with an increased risk of tumours at multiple sites. Follow-up information on carriers is limited and genetic heterogeneity makes counselling and management in PJS difficult. Here we report the analysis of the LKB1/STK11 locus in a series of 33 PJS families, and estimation of cancer risks in carriers and noncarriers. Germline mutations of LKB1/STK11 were identified in 52% of cases. This observation reinforces the hypothesis of a second PJS locus. In carriers of LKB1/STK11 mutations, the risk of cancer was markedly elevated. The risk of developing any cancer in carriers by age 65 years was 47% (95% CI: 27-73%) with elevated risks of both gastrointestinal and breast cancer. PJS with germline mutations in LKB1/STK11 are at a very high relative and absolute risk of multiple gastrointestinal and nongastrointestinal cancers. To obtain precise estimates of risk associated with PJS requires further studies of genotype-phenotype especially with respect to LKB1/STK11 negative cases, as this group is likely to be heterogeneous.

AMP-Activated Protein Kinase Kinases↗

Repair of concomitant inguinal and femoral hernias under local anaesthesia.

We describe the case of a 91-year-old patient with small bowel obstruction due to an obstructed groin hernia. It was decided to repair the hernia under local anaesthesia and sedation because of the patient's age and medical condition. At surgery, concomitant inguinal and femoral hernias were found and repaired. We discuss the technique of repairing groin hernias under local anaesthesia, especially in the elderly, and the previously reported incidence of concomitant hernias.

Aged↗

Abdominal aortic aneurysm, glaucoma and deafness: a new familial syndrome.

Several reports have suggested a genetic basis for the distribution of abdominal aortic aneurysm (AAA) in some families. The familial clustering of this disease is further demonstrated in this report of ten siblings, five of whom have confirmed AAA. This is the largest cluster so far reported. The majority of patients in this family group also have glaucoma and/or deafness.

Aged↗

A controlled prospective trial of adjuvant razoxane in resectable colorectal cancer.

Following resection of their tumour, 162 patients with colorectal cancer entered a prospective randomized controlled clinical trial of adjuvant oral razoxane. Thirty-one patients were Duke's group A; 49 group B; 61 group C; and 17 group D; an additional four patients were randomized in error. The adjuvant group received the usual clinical care and 125 mg razoxane twice daily for 5 consecutive days (monday-friday) every week indefinitely. Control patients received the same clinical care as the adjuvant group, but no razoxane. At 3 years, 134 patients (84%) are evaluable. The recurrence rate in the first 6 months was 20% and 28% respectively in the Duke's B and C controls compared with 4% and 9% in the corresponding razoxane treated patients. Most recurrences occurred within the first 6 months from randomization. When all patients as randomized are included in the analysis of survival, irrespective of whether they were cured by surgery (Duke's A), had advanced cancer (Duke's D), or took no razoxane when randomized to take it, then as might be expected any differences there may be between the razoxane-treated and control patients with minimal residual disease (Duke's B and C) are so distorted that the p value of the difference in survival was 0.93. If however only patients with Duke's group B or C are taken (49 controls and 47 treated), log-rank analysis reveals a difference in the cancer mortality curves (p = 0.07). If patients who had been randomized to take razoxane, but who had not taken it at any time (and therefore received the same treatment as controls) are analysed with the controls, the difference between the two groups increases further, with p less than 0.05. The razoxane-treated patients experienced no significant toxicity apart from a readily reversible mild leukopenia in 52% while gastrointestinal symptoms necessitated stopping the drug in only four patients. These four all took the drug for less than 4 weeks. Because there was no toxicity to subtract from any benefit razoxane adjuvant treatment produced and the quality of life was not impaired, the therapeutic benefit of surgery wsa increased to the extent that razoxane increased survival of patients with Duke's B and C tumours.

Clinical Trials as Topic↗

Use of the Bard Memotherm self-expanding metal stent in the palliation of colonic obstruction.

BACKGROUND: Self-expanding metal stents (SEMS) are a recognized means of palliating large bowel obstruction due to colonic neoplasia. The literature mainly relates to the use of modified esophageal stents (expanded diameter, 18-22 mm) in the colorectum. Stent migration has been a common complication and may be related to expanded stent diameter. This series reports our experience with the Memotherm Colorectal SEMS (expanded diameter, 25-30 mm). METHODS: Prospective data were collected from February 1999 to September 2000. Sixteen patients (age range = 61-99 years) were considered for the Memotherm Colorectal SEMS. Stents were inserted radiologically under fluoroscopic control. Outcome was classified as a technical success (stent in correct position and expanded) and a clinical success (colon decompressed, symptoms relieved, and bowels working). RESULTS: Thirteen cases (81%) underwent successful SEMS placement. These were technically and clinically successful. Two cases required insertion of two overlapping stents to traverse long strictures. Three unsuccessful cases were emergency presentations in which a guidewire could not be passed across the lesion. Two of these were due to benign strictures and the third to extrinsic compression by ovarian carcinoma. CONCLUSION: In our experience, the Memotherm Colorectal SEMS was easy to use, was effective in the palliation of obstructing colorectal carcinoma, and appeared to reduce the risk of stent migration.

Aged↗