In a large cohort of twins that included almost 35,000 individuals, the self-reported overall prevalence of Scheuermann disease was 2.8% and the male-to-female ratio was close to 2:1. Because the pairwise and probandwise concordance and the odds ratio were two to three times higher in monozygotic than in dizygotic twins and the heritability was high, we concluded that there is a major genetic contribution to the etiology of Scheuermann disease.

Background and purposeThe genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time.Methods46,418 twins were sent a questionnaire about health and disease. Of these, 75% returned the questionnaire and 97% answered the question “Have you been diagnosed as having Scheuermann's disease by a doctor?”ResultsResponders included 11,436 complete pairs of twins. Data were analysed using classical twin modeling methods. Tetrachoric correlations were used to decide which etiological model to fit. The best-fitting model was the AE model. Heritability was 0.74 (95% CI: 0.65–0.81), while variance explained by environmental factors was 0.26 (95% CI: 0.19–0.35). A threshold of 2.1 (95% CI: 1.9–2.2) was calculated, corresponding to a prevalence of 1.9% (95% CI: 1.3–2.8) for women. Regression coefficients for age and sex were 0.000 (95% CI: –0.003 to 0.002) and –0.32 (95% CI: –0.42 to –0.23).InterpretationWe found a heritability of 0.74 in Scheuermann's disease. The threshold in men was lower than in women, corresponding to a male prevalence that was almost twice that of females. We found no change in the prevalence of Scheuermann's disease throughout the 50-year age span that we examined.

IntroductionThe aetiology of congenital clubfoot is unclear. Although studies on populations, families, and twins suggest a genetic component to the aetiology, other studies have identified environmental factors. The purpose of this study was to calculate heritability in order to determine to what extent genetic and/or environmental factors contribute to the aetiology of congenital clubfoot and to asses whether there was a change in the prevalence over time.Materials and MethodsThe Odense based Danish Twin Registry is unique as it contains data on all the approximately 85,000 twin pairs born in Denmark over the last 140 years. All 46,418 twin individuals born from 1931 through 1982, who had earlier consented to contact, received a 17-page Omnibus questionnaire in the spring of 2002. Data were analysed with structural equation models to identify the best fitting aetiological model based on a balance of goodness-of-fit and parsimony and to estimate heritability.ResultsWe found an overall self-reported prevalence of congenital clubfoot of 0.0027 (95 % confidence interval 0.0022–0.0034). Fifty-five complete (both twins answered the question) twin pairs were identified representing 12 monozygotic, 22 same-sex dizygotic, 18 opposite-sex dizygotic, and 3 with unclassified zygosity. The model with only environmental factors (CE) was best fitting based on AIC, and the model with an additive genetic factor (ACE) came in second. Due to the small statistical power, we hypothesise that the model with both genetic and environmental effects (ACE) was the better model. Choosing the ACE-model we found a heritability of clubfoot of 30 %. Regression coefficient for age was −0.002 (−0.011 to 0.005), indicating that there has been no change in prevalence of clubfoot over the 50-year age span we examined.DiscussionWe conclude that non-genetic factors must play a role, and a genetic factor might contribute, in the aetiology of congenital clubfoot.

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Background and purpose THA changes the pattern of strain distribution in the proximal femur. We quantified the changes in BMD for 5 years after insertion of the cemented Exeter stem in women.Methods 18 women aged 55-79 years, undergoing unilateral THA with the cemented Exeter stem, were included in the study. The BMD was measured in 7 femoral regions of interest according to Gruen, and the contralateral hip and spine using dual-energy X-ray absorptiometry postoperatively, at 18 and at 60 months of follow-up. Results were tested using Wilcoxon matched-pairs signed-rank test.Results During the first 18 months, a significant decrease in BMD was seen in zones 2, 3, 6, and 7. No significant changes were seen in zones 4 and 5, in the contralateral hip, or at the spine. In zone 1, there was a small but significant rise in BMD. From 18 to 60 months, we observed a statistically significant rise in BMD in all zones except 4 and 7. Despite this, the total periprosthetic BMD decreased during the follow-up relative to the immediate postoperative situation. There was no significant reduction in BMD in the contralateral hip. In the spine, we observed a significant rise in BMD.Interpretation 18 months after THA, BMD had decreased in Gruen zones 2, 3, 6, and 7. The bone loss was similar to that seen after other implants and appears to be related to the changes in stress pattern within the proximal femur. At 5 years, BMD had increased again in these zones. It remained lower than baseline, however.