Illness perception and health-related quality of life in multiple sclerosis.

AIMS - A number of physical and psychological factors have been shown to affect health-related quality of life (HRQoL) in patients with multiple sclerosis (MS). Among these, the role of illness perceptions has not been established as an independent factor. This study, the first of its kind in an Australian population, aimed to use a large sample to determine the relative importance of individual factors to each domain of HRQoL, in particular the role of illness perception. MATERIALS AND METHODS - 580 patients with confirmed MS were assessed cross sectionally in a designated research clinic to determine the relative impact of physical factors (illness severity, duration, age, fatigue and pain) and psychological factors (mood, cognition and illness representations) on each domain of the SF-36. RESULTS - Categorical regression analysis showed that a combination of physical and psychological factors predicted 38-71% of variance in HRQoL. Illness perception was shown to have an independent effect on HRQoL in MS. The Extended Disability Status Scale was a significant determinant in all domains except for mental health. Depression was less prevalent than anxiety, but had a greater effect on function. CONCLUSION - Illness perception is an independent factor contributing to HRQoL in people with MS. Individual domains of HRQoL are associated with different patterns of physical and psychological factors. In the domains of role and social function, activities most highly valued by patients with MS, depression, anxiety, fatigue and illness perceptions are key determinants, all of which have the potential to be improved through specific interventions.

In vivo and in vitro evaluation of the heparin management test versus the activated coagulation time for monitoring anticoagulation level in aprotinin-treated patients during cardiac surgery.

INTRODUCTION: Monitoring whole blood anticoagulation therapy with the activated coagulation time (kaolin ACT) and the heparin management test (HMT) were correlated in vivo with the plasma anti-activated factor X (anti-Xa) heparin concentration in patients who received variable doses of aprotinin and in vitro in the presence of increasing concentrations of aprotinin. METHODS: In 38 elective cardiac surgical patients who received an average heparin dose of 400 IU/kg and an average total aprotinin dose of 3.6 10(6) kallikrein-inhibiting units (KIU), ACT and HMT were measured in duplicate 6 times intraoperatively at predetermined intervals. Blood samples at each interval were also assayed for the anti-Xa plasma heparin concentration with the IL Test heparin chromogenic assay. The influence of increasing concentrations of aprotinin on HMT and ACT was also measured in vitro by using blood samples containing 6 IU/mL heparin from 6 additional patients after adding specific aliquots of aprotinin to achieve concentrations of 50, 100, 200, and 300 KIU/mL aprotinin. Linear regression analysis was used to compare HMT and ACT against anti-Xa. A P level <.05 was required for statistical significance. RESULTS: Duplicate measurements were taken at all intervals, and HMT and ACT values were significantly correlated, both with each other (r = 0.86; P < .01) and with anti-Xa activity (HMT, r = 0.81 [P < .01]; ACT, r = 0.71 [P < .01]). Aprotinin prolonged both the kaolin ACT and the HMT time in a dose-dependent manner (P < .05), and its influence was significantly less in vivo on the HMT time than on the kaolin ACT (P < .001). CONCLUSIONS: The abilities of the HMT and the kaolin ACT to measure anticoagulation effects were not significantly different. Aprotinin prolonged both the kaolin ACT and the HMT time in a dose-dependent manner, but the HMT was significantly less affected by aprotinin in vivo. The HMT is a reliable alternative to measuring the ACT in cardiac operations and may offer greater accuracy in aprotinin-treated patients.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a number of germline FH mutations from MCUL patients. In this study, we report additional FH mutations in MCUL and FH deficiency patients. Mutations can readily be found in about 75% of MCUL cases and most cases of FH deficiency. Some of the more common FH mutations are probably derived from founding individuals. Protein-truncating FH mutations are functionally null alleles. Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enzyme's active site or activation site; we predict that these mutations severely compromise enzyme function. The mutation spectra in FH deficiency and MCUL are similar, although in the latter mutations tend to occur earlier in the gene and, perhaps, are more likely to result in a truncated or absent protein. We have found that not all mutation-carrier parents of FH deficiency children have a strong predisposition to leiomyomata. We have confirmed that renal carcinoma is sometimes part of MCUL, as part of the variant hereditary leiomyomatosis and renal cancer (HLRCC) syndrome, and have shown that these cancers may have either type II papillary or collecting duct morphology. We have found no association between the type or site of FH mutation and any aspect of the MCUL phenotype. Biochemical assay for reduced FH functional activity in the germline of MCUL patients can indicate carriers of FH mutations with high sensitivity and specificity, and can detect reduced FH activity in some patients without detectable FH mutations. We conclude that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.

Beating heart surgery: why expect less central nervous system morbidity?

BACKGROUND: The incidence and etiology of brain dysfunction after conventional coronary artery bypass surgery using cardiopulmonary bypass (CPB) are reviewed. METHODS: Stroke rates and incidences of cognitive dysfunction from various studies are considered. Mechanisms of injury including cerebral embolization as detected by transcranial Doppler and retinal angiography, and imaging-based evidence for postoperative cerebral edema, are discussed. Preliminary results from a prospective clinical trial assessing cognitive dysfunction after beating heart versus conventional coronary artery bypass with CPB are discussed. RESULTS: Initial evidence for lower overall postoperative morbidity, and for a lower incidence of cognitive dysfunction specifically, after nonpump coronary revascularization is presented. CONCLUSIONS: Beating heart surgery results in less potential for generation of cerebral emboli and appears to produce a lower incidence of cognitive dysfunction in both short- and intermediate-term postoperative follow-up periods as compared with conventional coronary artery bypass surgery using CPB.

The effect of wavelength, power and treatment pattern on the outcome of laser treatment of port-wine stains.

The argon laser was used to treat 220 patients with port-wine stains with moderate efficacy and few complications although perfect cosmetic results were rarely achieved. Primary failure of the argon laser to produce permanent blanching graded good or excellent was the most important factor limiting the final cosmetic results whilst severe scarring was rare (less than 2%). In order to improve the efficacy of this treatment, a randomized controlled study of different parameters of laser treatment was undertaken in test patches of port-wine stains in 50 patients. A treatment pattern with contiguous or overlapping laser spots was significantly superior to treatment with spots of 1 or 2 mm separation. Increasing the power level to twice the minimum blanching power did not improve efficacy or significantly increase scarring. A randomized study of selective absorption using a neodymium (Nd) YAG laser showed similar efficacy for the different wavelengths although scarring was greater with the Nd-YAG laser. This study has shown that laser treatment can offer a moderately effective treatment for port-wine stains. For best results spot separation needs to be carefully controlled, whilst wavelength and power level appear to be less important than previously reported.

The dysplastic naevus syndrome and endocrine disease.

Members of two different families were found to have the dysplastic naevus syndrome and coexistent endocrine abnormalities. The dysplastic naevus syndrome is probably inherited as an autosomal dominant trait and has been associated with other primary malignancies. This is the first time that it has been described in association with endocrine abnormalities.

The Klippel Trenaunay Weber Syndrome presenting with cutaneous bleeding.

A patient with the Klippel Trenaunay Weber syndrome presented with prolonged bleeding from the finger tips during strenuous exercise. Tissue fibrinolysis studies showed increased fibrinolytic activity suggesting that the blood vessels in the affected limb may be functionally as well as anatomically abnormal.