A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

Progressive myoclonus epilepsy (PME) has a number of causes, of which Unverricht-Lundborg disease (ULD) is the most common. ULD has previously been mapped to a locus on chromosome 21 (EPM1). Subsequently, mutations in the cystatin B gene have been found in most cases. In the present work we identified an inbred Arab family with a clinical pattern compatible with ULD, but mutations in the cystatin B gene were absent. We sought to characterize the clinical and molecular features of the disorder. The family was studied by multiple field trips to their town to clarify details of the complex consanguineous relationships and to personally examine the family. DNA was collected for subsequent molecular analyses from 21 individuals. A genome-wide screen was performed using 811 microsatellite markers. Homozygosity mapping was used to identify loci of interest. There were eight affected individuals. Clinical onset was at 7.3 +/- 1.5 years with myoclonic or tonic-clonic seizures. All had myoclonus that progressed in severity over time and seven had tonic-clonic seizures. Ataxia, in addition to myoclonus, occurred in all. Detailed cognitive assessment was not possible, but there was no significant progressive dementia. There was intrafamily variation in severity; three required wheelchairs in adult life; the others could walk unaided. MRI, muscle and skin biopsies on one individual were unremarkable. We mapped the family to a 15-megabase region at the pericentromeric region of chromosome 12 with a maximum lod score of 6.32. Although the phenotype of individual subjects was typical of ULD, the mean age of onset (7.3 years versus 11 years for ULD) was younger. The locus on chromosome 12 does not contain genes for any other form of PME, nor does it have genes known to be related to cystatin B. This represents a new form of PME and we have designated the locus as EPM1B.

Hormone replacement therapy and breast cancer: estimate of risk: Education debate

The risk of breast cancer arises from a combination of genetic susceptibility and environmental factors. Recent studies show that type and duration of use of hormone replacement therapy affect a women's risk of developing breast cancer.1-7 The women's health initiative trial was stopped early because of excess adverse cardiovascular events and invasive breast cancer with oestrogen and progestogen.6 The publicity increased public awareness of the risks of hormone replacement therapy, and this was heightened by the publication of the million women study.2 However, the recently published oestrogen only arm of the women's health initiative trial suggests that this formulation may reduce the risk of breast cancer.8 To help make sense of the often confusing information,9 women and clinicians need individual rather than population risk data. We have produced estimates that can be used to calculate individual risk for women living up to the age of 79 and suggest the risk

Exploring the use of Viagra in place of animal and plant potency products in traditional Chinese medicine

Recently, conservationists have debated whether consumers of animal and plant potency products used to treat erectile dysfunction (ED) in traditional Chinese medicine (TCM) might be switching to Viagra, consequently consuming fewer of these animals and plants. To address this question, a survey examined the medical decisions of male consumers of TCM in Hong Kong who were over the age of 50. As predicted, these consumers reported selectively switching to Western medicines to treat ED, but not to treat other health ailments. These findings provide support for the possibility that Viagra may have conservation benefits for certain species.

Less inhibited with age? Larval age modifies responses to natural settlement inhibitors

As larvae of marine invertebrates age, their response to settlement cues can change. This change can have significant consequences to both the ecology of these organisms, and to their response to antifouling coatings. This study examines how larval age affects the settlement response of larvae to two naturally derived settlement inhibitors, non-polar extracts from the algae Delisea pulchra and Dilophus marginatus, the former of which contains compounds that are in commercial development as antifoulants. Two species of marine invertebrates with non-feeding larvae were investigated: the bryozoans Watersipora subtorquata and Bugula neritina. Larval age strongly affected larval settlement, with older larvae settling at much higher rates than younger larvae. Despite having strong, inhibitory effects on young larvae, the non-polar extracts did not inhibit the settlement of older larvae to the same degree for both species studied. The results show that the effects of ecologically realistic settlement inhibitors are highly dependent on larval age. Given that the age of settling larvae is likely to be variable in the field, such age specific variation in settlement response of larvae may have important consequences for host-epibiont interactions in natural communities.

Falling incidence of amputations for peripheral occlusive arterial disease in western Australia between 1980 and 1992

Objectives: To assess temporal trends in the incidence of surgical procedures for peripheral occlusive arterial disease (POAD) and associated changes in outcome as measured by the rate of major lower limb amputations for POAD. Design: a retrospective descriptive population-based study was conducted of the geographically isolated population of Western Austrialia between 1980 and 1992. Methods: Vascular procedures with an accompanying diagnosis of POAD were identified in a computerised system of name-identified records of all discharges from hospital for the population. These procedures were detected using relevant codes from the International Classification of Disease and Procedures. Records of angioplasty and thrombolysis procedures were augmented by searches of hospital-based registers of invasive radiological procedures. The data for the remaining procedures were validated by a review of a random sample of medical records. Results: over the 13 years of the study, rates of major amputations fell significantly for in non-amputation vascular surgery for individuals under the age of 60. In addition, rather than an overall rise in surgery there was shift away from sympathectomy and thromboendarterectomy to angioplasty and bypass surgery. Furthermore, an increasing proportion of all major amputations had a prior attempt at arterial reconstruction. Conclusion: These observations suggest the decrease in major amputations for POAD may reflect a fall in the incidence of POAD, possibly aided by move effective surgery, rather than increased rates of vascular surgery.

Relationship between use of technology and employment rates for people with physical disabilities in Australia: Implications for education and training programmes

This study examined the impact of computer and assistive device use on the employment status and vocational modes of people with physical disabilities in Australia. A survey was distributed to people over 15 years in age with physical disabilities living in the Brisbane area. Responses were received from 82 people, including those with spinal cord injuries, cerebral palsy and muscular dystrophy. Of respondents 46 were employed, 22 were unemployed, and 12 were either students or undertaking voluntary work. Three-quarters of respondents used a computer in their occupations, while 15 used assistive devices. Using logistic regression analysis it was found that gender, education, level of computer skill and computer training were significant predictors of employment outcomes. Neither the age of respondent nor use of assistive software were significant predictors. From information obtained in this study guidelines for a training programme designed to maximize the employability of people with physical disabilities were developed.