The Scottish Motor Neuron Disease Register (SMNDR) is a prospective, collaborative, population based study of motor neuron disease (MND) in Scotland. The register started in January 1989 with the aim of studying the clinical and epidemiological features of MND by prospectively identifying incident patients. It is based on a system of registration by recruitment from multiple sources, followed by the collection of complete clinical data and follow up, mainly through general practioners. In this report the register's methodology and the demography and incidence data for the first year of study are presented. One hundred and fourteen newly diagnosed patients were identified in 1989 giving a crude incidence for Scotland of 2*241100 000/year. Standardised incidence ratios showed a non-significant trend towards lower rates in north eastern regions and island areas.
Background: The spectrum and incidence of congenital heart diseases amongst African population are not well defined in literature. There is the need to further elucidate the spectrum and epidemiology of congenital heart diseases amongst African. Aim: This study was conducted to highlight the spectrum and occurrence of congenital heart diseases in an African population. Methodology: All paediatric patients who were autopsied over a 98-month period were checked for occurrence of congenital heart diseases. Attempts were made to ascertain the primary disease and causes of death. We noted their bio-data, ages, sexes and causes of death. The results were analysed with SPSS version 17. The results formed the basis for discussion and recommendations. Results: There were 135 cardiac related deaths and 36 of them were in paediatric age brackets. The mean age was 4.7 + 1.08 months with a standard deviation of 6.27. M:F ratio was 1:1.1. The commonest anomaly was ventricular septal defect. There was a weak association with other congenital anomalies. The commonest cause of death was bronchopneumonia. Discussion and Recommendation: The disease pattern showed reasonable similarity with reports from other parts of the world. However, there is need for development of capacity for prenatal diagnosis of congenital heart diseases in Africa. This will widen the net of diagnosis and improve accuracy of incidence studies in Africa.
Background
We deal with genetic complexity through population structure to reduce the number of markers, condition case/control study results and combat the confounding influence of genetic heterogeneity and minor locus effects. This abstract describes the screening of patient genomes to construct a DNA based test for measuring Taxol/Carboplatin response proclivities.
Methods
Pan genome maps of Ancestry Informative Markers to estimate individual biogeographical ancestry admixture for patient samples, integrated with a case/control design were used to screen the genome.
Results
Taxol/Carboplatin response was associated with Haplotypes in 3 xenobiotic metabolism genes and a few other SNPs. Integrating ancestry and gene‐specific features enabled construction of a classification method for predicting Taxol/Carboplatin response proclivities that is capable of relatively sensitive, specific and powerful performance in “blind” sample classification trials.
Conclusions
When gene haplotype and SNP associations are viewed through the lens of biogeographical ancestry admixture, pattern emerges that enables relatively accurate classification of patient response proclivities to Taxol/Carboplatin in ovarian cancer patients.
Clinical Pharmacology & Therapeutics (2005) 77, P61–P61; doi:
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