Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial cerebrovascular disorder shown to map to chromosome 19q12. Familial hemiplegic migraine has also been shown in some families to map close to the CADASIL locus. The fully developed CADASIL phenotype consists of recurrent strokes developing in the fourth decade, progressing to a pseudobulbar palsy, spastic quadriparesis, and subcortical dementia. In an Irish family 15 members were fully investigated by magnetic resonance scanning; 10 had typical magnetic resonance features of CADASIL. Five members of this family had familial hemiplegic migraine and 4 of these had magnetic resonance evidence of CADASIL. Two other members had migraine with and without aura as a presenting clinical symptom of CADASIL. This disorder has been shown by linkage analysis to map to the CADASIL locus at chromosome 19. The phenotype at presentation of CADASIL in this family was variable and age related and included familial hemiplegic migraine, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction. This family study increases our understanding of the spectrum of clinical manifestations of this underrecognized familial cerebrovascular disorder.

Lower urinary tract dysfunction is a major cause of morbidity in patients with multiple sclerosis. alpha 1-Adrenergic receptors are present at the bladder neck, where increased tone may be responsible for urinary retention and diminished flow rates. A randomized placebo controlled study was designed to test the hypothesis that blockade of these receptors using the selective alpha 1-adrenergic receptor antagonist indoramin would improve bladder emptying in patients with multiple sclerosis. Peak and mean urinary flow rates, residual volume and symptom score were evaluated at trial entry and again after 4 weeks in 18 men with multiple sclerosis. There was a mean 41% improvement in peak flow rate in the actively treated group compared with a 7.4% deterioration in the placebo group (p < 0.05). Residual volume improved in both groups. Patients taking indoramin reported a greater improvement in urinary symptoms. Modulation of the alpha 1-receptor may have a role in the management of lower urinary tract dysfunction in multiple sclerosis.

Duration of diabetes rather than diabetic controls predicts better the development and severity of diabetic neuropathy indicating a failure of intensive treatment to avert such complications.

BackgroundThe number of colonoscopic procedures continues to rise rapidly. With widespread adoption of colonoscopy based bowel screening programmes, this rising trend is set to continue.AimsThis study aimed to identify whether elective colonoscopy could provoke cardiac rhythm disturbances and/or myocardial ischaemia, as evidenced by 12 lead Holter ECG recordings and troponin I (cTnI) changes.Materials and methodsPatients were stratified into three groups based on the presence of cardiac disease or cardiovascular risk factors. They underwent real time 12 lead Holter monitoring before, during and after colonoscopy. Bloods were taken for pre- and post-procedure cTnI estimation.ResultsHolter ECG recordings of the three groups showed a high incidence of new but silent ischaemic and arrhythmic ECG changes during the colonoscopy in patients with documented but stable heart disease and to a lesser extent in those patients with one or more risk factors for heart disease. Three patients had high cTnI concentrations both before and after colonoscopy. Two patients with known heart disease died within 30 days of colonoscopy.ConclusionsThis study demonstrates for the first time the occurrence of potentially clinically significant ST-T wave changes and rhythm disturbances during elective colonoscopy in patients with known heart disease and to a lesser extent in those patients with a known cardiovascular risk profile.

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