David Chesney

Genetics and epidemiology of idiopathic congenital talipes equinovarus.

Idiopathic congenital talipes equinovarus (ICTEV) competes with developmental hip dysplasia as the most common congenital orthopedic problem, with a prevalence of between 0.64 and 6.8 per 1,000 live births. Clear, consistent inclusion criteria and measures of severity in future studies should facilitate interstudy comparisons. Etiologic data to date have been limited to population-based epidemiologic studies. There is convincing evidence for a multifactorial etiologic model involving both environmental and genetic factors. Future research is likely to use molecular genetic studies of candidate genes in the cause of ICTEV. Two approaches are used to study heritability of disease: population inheritance patterns and molecular genetics.

Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study

BackgroundCongenital talipes equinovarus (CTEV) is a common developmental disorder of the foot, affecting between 1 and 4.5 per 1000 live births. The aetiology is not well elucidated. While both genetic and environmental factors are implicated, no specific genes have been identified and little is known about environmental risk factors.MethodsWe conducted a case-control study of idiopathic congenital talipes equinovarus (ICTEV) in the United Kingdom. 194 cases and 60 controls were recruited. Pedigrees were obtained for 167 cases.ResultsThe rank of the index pregnancy, maternal education and caesarean delivery were significantly associated with ICTEV risk in a multivariate model. There were suggestions that maternal use of folic acid supplements in the three months before the pregnancy decreased ICTEV risk, and that parental smoking during the pregnancy increased risk, although the associations were not statistically significant. One quarter of pedigrees showed a family history of CTEV, and autosomal dominant inheritance was suggested in some of these.ConclusionUterine restriction did not appear to have a strong influence on ICTEV development in our study. Large population-based studies are needed to clarify the aetiology of this common developmental disorder.

Lack of seasonal variation in idiopathic talipes equinovarus

BACKGROUND One proposed etiology of idiopathic talipes equinovarus is an in utero enterovirus infection. Enterovirus infections demonstrate seasonal variation in temperate climates. METHODS We collected data on 1202 children with idiopathic talipes equinovarus born in the Northeastern United States, Midwestern United States, and the United Kingdom to investigate a seasonal variation in this congenital deformity. Birth date, gestational age at the time of delivery, gender, race, and laterality were tabulated and subjected to univariate and bivariate analyses. RESULTS There were 774 boys and 428 girls with idiopathic talipes equinovarus. The birth location was the United Kingdom (458 children), the Midwestern United States (426 children), and the Northeastern United States (318 children). No significant differences were detected among the geographic groups with respect to gender, race, or laterality, and no variation in month of birth or month of conception was noted. CONCLUSIONS This study does not support an in utero enterovirus infection as an etiology of idiopathic talipes equinovarus in industrialized populations.

Data mining trauma injury data using C5.0 and logistic regression to determine factors associated with death.

Trauma injury data collected over 10 years at a UK hospital are analysed. The data include injury details such as patient age and gender, the mechanism of injury, various measures of injury severity, management interventions, and treatment outcome. Logistic regression modelling was used to determine which factors were independently associated with death during hospital stay. The data mining algorithm C5.0 was also used to determine those factors in the data that can be used to predict whether a patient will live or die. Logistic modelling and C5.0 show that different subsets of injury severity scores, and patient age, are associated with survival. In addition, C5.0 also shows that gender, and whether the patient was referred from another hospital, is important. The two techniques give different insights into those factors associated with death after trauma.

Data Mining Medical Information: Should Artificial Neural Networks Be Used to Analyse Trauma Audit Data?

Trauma audit is intended to develop effective care for injured patients through process and outcome analysis, and dissemination of results. The system records injury details such as the patient’s sex and age, the mechanism of the injury, various measures of the severity of the injury, initial management and subsequent management interventions, and the outcome of the treatment including whether the patient lived or died. Ten years’ worth of trauma audit data from one hospital are modelled as an Artificial Neural Network (ANN) in order to compare the results with a more traditional logistic regression analysis. The output was set to be the probability that a patient will die. The ANN models and the logistic regression model achieve roughly the same predictive accuracy, although the ANNs are more difficult to interpret than the logistic regression model, and neither logistic regression nor the ANNs are particularly good at predicting death. For these reasons, ANNs are not seen as an appropriate tool to analyse trauma audit data. Results do suggest, however, the usefulness of using both traditional and non-traditional analysis techniques together and of including as many factors in the analysis as possible.

Management of congenital talipes equino varus in Scotland: a nationwide audit

The Scottish Talipes Register is a record of all newly diagnosed cases of idiopathic congenital talipes equinovarus (CTEV) in Scotland over a four.year period. Two hundred and sixteen children were entered into the register, which recorded initial management and all subsequent interventions, both non-operative and operative. The data, therefore, represent a record of the different management regimens used within Scotland highlighting the variations in duration of conservative management and variations in surgical intervention following different methods of conservative management.