Uncomplicated diverticular disease is not a common cause of colonic symptoms.

BACKGROUND: Colonic diverticular disease is common among older individuals whereas colonic symptoms, such as those of irritable bowel syndrome, are frequent in the general population. AIM: To determine among patients in secondary care, if uncomplicated diverticular disease is a common cause of colonic symptoms. METHODS: Patients aged ≥50 years attending gastroenterology out-patient clinics or scheduled for colonoscopy or barium enema in a secondary care hospital were invited to take part. Those with structural gastrointestinal diseases were excluded. Participants completed a locally validated Rome II questionnaire on colonic symptoms. Patients with diverticular disease were compared with those without. RESULTS: Seven hundred and eighty four patients with no structural pathology other than diverticular disease or benign colonic polyps completed the study. A total of 744 patients underwent colonoscopy, 40 barium enema. Of these, 281 patients had diverticular disease. Among patients with and without diverticular disease, the frequency of abdominal pain, diarrhoea, constipation and irritable bowel syndrome were 123 (44%) and 226 (46%), 44 (16%) and 80 (17%), 38 (14%) and 80 (17%) and 66 (25%) and 119 (25%), respectively (N.S.). CONCLUSION: Uncomplicated colonic diverticular disease is not a common cause of colonic symptoms among patients in secondary care.

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant cancer predisposition syndrome characterised by oro-facial pigmentation and hamartomatous polyposis of the gastrointestinal tract. A causal germline mutation in STK11 can be identified in 30% to 80% of PJS patients. METHODS: Here we report the comprehensive mutational analysis of STK11 in 38 PJS probands applying conventional PCR based mutation detection methods and the recently introduced MLPA (multiplex ligation dependent probe amplification) technique developed for the identification of exonic deletions/duplications. RESULTS: Nineteen of 38 probands (50%) had detectable point mutations or small scale deletions/insertions and six probands (16%) had genomic deletions encompassing one or more STK11 exons. CONCLUSIONS: These findings demonstrate that exonic STK11 deletions are a common cause of PJS and provide a strong rationale for conducting a primary screen for such mutations in patients.

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.

It could only happen to a doctor--Haemophilus aphrophilus septicaemia complicated by a prevertebral infection after dental work.

A 53 year old man presented with severe neck pain and a flu-like illness; he had recently returned from Sri Lanka and had had dental treatment six days before illness onset. Blood culture showed infection by Haemophilus aphrophilus. Magnetic resonance imaging was performed and exploratory surgery undertaken. The prevertebral cervical fascia was inflamed but no abscess identified. He was treated with antibiotics and made an uneventful recovery.

Serum intercellular adhesion molecule-1 in alcoholic liver disease and its relationship with histological disease severity.

BACKGROUND: Infiltration of the liver by leukocytes is a histological feature of alcoholic liver disease. Intercellular adhesion molecule-1 (ICAM-1) mediates the migration of lymphocytes from the circulation to target sites of inflammation. It has been demonstrated in the liver of alcoholic liver disease subjects and as a circulating soluble form (sICAM-1). The origin of sICAM-1 and its relationship to disease severity is unknown, although it has been postulated that it may arise from activated T lymphocytes and is an inflammatory marker. AIMS: The aim of the study was to determine the relationship of sICAM-1 to clinical and histological severity of alcoholic liver disease and to serum T-cell (soluble interleukin-2 receptor (sIL-2R), beta 2-microglobulin) and monocyte (neopterin) immune activation markers. METHODS: Serum from 48 outpatients with biopsy proven alcoholic liver disease (steatosis = 9, cirrhosis = 28, hepatitis +/- cirrhosis = 11), 31 with primary biliary cirrhosis and 27 normals was assayed for sICAM-1, sIL-2R, beta 2-microglobulin, and neopterin. RESULTS: sICAM-1 was significantly elevated, p = 0.0001, in alcoholic liver disease and primary biliary cirrhosis patients compared to normals. Circulating sIL-2R (p = 0.0001) and beta 2-microgloblin (p = 0.0034) were significantly elevated in alcoholic liver disease compared to controls. There was a highly significant correlation between levels of sICAM-1 and histological grade of disease, Rs = 0.80 (p = 0.0001), but no significant correlation with clinical correlates of disease severity or circulating immune activation markers. CONCLUSIONS: sICAM-1 is elevated in alcoholic liver disease, is a marker of histological severity of disease and does not appear to originate from activated T lymphocytes. Measurements of sICAM-1 may be useful in assessing histological severity of alcoholic liver disease.

Common toxicities of cancer chemotherapy.

Sixty cancer patients who were receiving chemotherapy at an outpatient Oncology Centre were surveyed for their views on a list of treatment-related toxicities. The severity of each toxicity was assessed using a visual analogue scale. Sixty percent of patients felt that the overall toxicity was acceptable. Ten percent felt like giving up. Problem with venous access was named the worst toxicity by 37% of patients, followed by nausea and vomiting (19%), and long waiting time (11%). Male patients tended to tolerate chemotherapy better. The female patients were significantly more affected by hair loss than their male counterpart. Better understanding of the toxicities of chemotherapy as perceived by the patients themselves allows them to take appropriate measures in improving their quality of life.