Conservative gynecology and electro-therapeutics; a practical treatise on the diseases of women and their treatment by electricity,

Mode of access: Internet.

Medical lexicon. A dictionary of medical science; containing a concise explanation of the various subjects and terms of physiology, pathology, hygiene, therapeutics, pharmacology, obstetrics, medical jurisprudence, & c., with the French and other synonymes ; notices of climate, and of celebrated mineral waters; formulae for various officinal, empirical, and dietetic preparations, etc.

Mode of access: Internet.

Anatomical atlas of obstetrics, with special reference to diagnosis and treatment,

Mode of access: Internet.

Genetic covariation of pelvic organ and elbow mobility in twins and their sisters

A range of environmental risk factors, with childbirth the most notable, have been associated with the development of pelvic organ prolapse and urinary incontinence. However, indications of genetic influence (positive family histories, ethnic differences) have prompted research into the heritability of measures of pelvic organ descent and joint mobility, which have also been associated with prolapse and incontinence. Genes appear to influence about half of the variation in these measures and, furthermore, the pelvic organ measures are associated with elbow hyperextension at a phenotypic level (r approximate to .2). We examined these measures in young, nulligravid women to determine if their association is due to a common genetic source. Data were collected from 178 Caucasian female co-twins and non-twin sisters, 50 of whom returned to be retested, which allowed reliability to be estimated and unreliable variance to be isolated in the multivariate analyses. Structural equation modeling was used to estimate genetic associations between latent elbow and bladder mobility factors for which heritabilities were estimated to be 0.80 and 0.64 respectively. The association between these factors appeared to be mediated by common genes (genetic r = .48, non-shared environmental r = -.06), with genes influencing latent elbow mobility accounting for 14% of the variation in latent bladder mobility. We speculate that genes influencing connective tissue structure may underlie this association.

Analysis of Melanoma Onset: Assessing Familial Aggregation by Using Estimating Equations and Fitting Variance Components via Bayesian Random Effects Models

We investigate whether relative contributions of genetic and shared environmental factors are associated with an increased risk in melanoma. Data from the Queensland Familial Melanoma Project comprising 15,907 subjects arising from 1912 families were analyzed to estimate the additive genetic, common and unique environmental contributions to variation in the age at onset of melanoma. Two complementary approaches for analyzing correlated time-to-onset family data were considered: the generalized estimating equations (GEE) method in which one can estimate relationship-specific dependence simultaneously with regression coefficients that describe the average population response to changing covariates; and a subject-specific Bayesian mixed model in which heterogeneity in regression parameters is explicitly modeled and the different components of variation may be estimated directly. The proportional hazards and Weibull models were utilized, as both produce natural frameworks for estimating relative risks while adjusting for simultaneous effects of other covariates. A simple Markov Chain Monte Carlo method for covariate imputation of missing data was used and the actual implementation of the Bayesian model was based on Gibbs sampling using the free ware package BUGS. In addition, we also used a Bayesian model to investigate the relative contribution of genetic and environmental effects on the expression of naevi and freckles, which are known risk factors for melanoma.

The epidemiology and genetics of smoking initiation and persistence: Crosscultural comparisons of twin study results

We examined whether there are crosscultural differences in the magnitude of genetic and environmental contributions to risk of becoming a regular smoker and of persistence in smoking in men and women. Standard methods of epidemiologic and genetic analysis were applied to questionnaire data on history of cigarette use obtained from large samples of male and female like-sex twins from three different countries: Australia (N = 2284 pairs), Sweden (N = 8651 pairs), and Finland (N = 10,948 pairs). Samples were subdivided into three age groups (AG), 18-25 years, 26-35 years, and 36-46 years of age. The magnitude of genetic influence for lifetime smoking was found to be consistent across country and AG for women (46%) and men (57%), and estimates of the contribution from environmental influences shared by twin and co-twin could be equated across all countries by AG for the women (from youngest to oldest AG: 45%, 35%, and 26%), but not for men, with separate estimates obtained for the Scandinavian (33%, 29%, and 19%) and the Australian men (26%, 9%, and 11 %). There was no evidence for an important role for shared environmental influences on persistent smoking, and the genetic contribution was found to be consistent in magnitude in men and women, and the same across country and AG (52%). There are strong genetic influences on smoking behavior, and that risk of becoming a smoker (but not persistence in smoking) may be modified by experiences shared by twins that differ by AG and, at least for men, cultural background.

Exploring the Etiology of the Association Between Birthweight and IQ in an Adolescent Twin Sample

The negative effects of very low birthweight on intellectual development have been well documented, and more recently this effect has been shown to generalise to birthweights within the normal range. In this study we investigate the etiology of this relationship by using a classical twin design to disentangle the contributions of genes and environment. A previous Dutch study (Boomsma et al., 2001) examining these effects indicated that genes were important in mediating the association of birthweight to full IQ measured at ages 7 and 10, but not at ages 5 and 12. Here the association between birthweight and IQ at age 16 is considered (N = 523 twin pairs). Using variance components modeling we found that the genetic variance in birthweight (4%) completely overlapped with that in verbal IQ but not performance or full IQ. Results further showed the importance of shared environmental effects on birthweight (similar to 60%) but not on IQ (with genes explaining up to 72% of IQ variance). Models incorporating a direction of causation parameter between birthweight and IQ provided adequate fit to the data in either causal direction for performance and full IQ, but the model with verbal 10 causing birthweight was preferred to one in which birthweight influenced verbal IQ. As the measurement of birthweight precedes the measurement of twins' IQ at age 16, the influence of verbal IQ might be better considered as a proxy for parents' 10 or education, and it is possible that brighter mothers provide better prenatal environments for their children.

Do the Genetic or Environmental Determinants of Anxiety and Depression Change with Age? A Longitudinal Study of Australian Twins

Because the determinants of anxiety and depression in late adolescence and early adulthood may differ from those in later life, we investigated the temporal stability and magnitude of genetic and environmental correlates of symptoms of anxiety and depression across the life span. Data were collected from a population-based Australian sample of 4364 complete twin pairs and 777 singletons aged 20 to 96 years who were followed-up over three studies between 1980 and 1996. Each study contained the 14-item self-report DSSI/sAD scale which was used to measure recently experienced symptoms of anxiety and depression. Symptom scores were then divided and assigned to age intervals according to each subject's age at time of participation. We fitted genetic simplex models to take into account the longitudinal nature of the data. For male anxiety and depression, the best fitting simplex models comprised a single genetic innovation at age 20 which was transmitted, and explained genetic variation in anxiety and depression at ages 30, 40, 50 and 60. Most of the lifetime genetic variation in female anxiety and depression could also be explained by innovations at age 20 which were transmitted to all other ages; however, there were also smaller age-dependent genetic innovations at 30 for anxiety and at 40 and 70 for depression. Although the genetic determinants of anxiety and depression appear relatively stable across the life-span for males and females, there is some evidence to support additional mid-life and late age gene action in females for depression. The fact that mid-life onset for anxiety occurs one decade before depression is also consistent with a causal relationship (anxiety leading to depression) between these conditions. These findings have significance for large scale depression prevention projects.

Movement and motor development in ELBW infants at 1 year is related to cognitive and motor abilities at 4 years

A relationship between motor ability and cognitive performance has been previously reported. This study aimed to investigate the association between movement and cognitive performance at 1 and 4 years corrected age of children born less than 1000 g, and whether developmental testing of movement at 1 year is predictive of cognitive performance at 4 years. Motor development was assessed at both ages using the neurosensory motor developmental assessment (NSMDA) and motor development was classified as normal, or minimal, mild, moderate-severe dysfunction. Cognitive performance was assessed on the Griffith Mental Developmental Scale at 1 year and McCarthy Scales of Children's Abilities at 4 years. Subjects included 198 children of birthweight less than 1000 g. Of these 132 children returned for follow-up at the corrected ages of both 1 and 4 years. The 66 children not included had a slight increase in gestational age, while the mothers were younger and had a lower level of education. A significant association was found between NSMDA group classification at 1 year and cognitive performance at both 1 and 4 years (p

Long-term oral sensitivity and feeding skills of low-risk pre-term infants

This study examined the oral sensitivity and feeding skills of low-risk pre-term infants at 11-17 months corrected age. Twenty pre-term infants (PT) born between 32 and 37 weeks at birth without any medical comorbidities were assessed. All of this PT group received supplemental nasogastric (NG) tube feeds during their birth-stay in hospital. A matched control group of 10 healthy full-term infants (FT) was also assessed. Oral sensitivity and feeding skills were assessed during a typical mealtime using the Royal Children's Hospital Oral Sensitivity Checklist (OSC) and the Pre-Speech Assessment Scale (PSAS). Results demonstrated that, at 11-17 months corrected age, the PT group displayed significantly more behaviours suggestive of altered oral sensitivity and facial defensiveness, and a trend of more delayed feeding development than the FT group. Further, results demonstrated that, relative to the FT group, pre-term infants who received greater than 3 weeks of NG feeding (PT>3NG) displayed significantly more facial defensive behaviour, and displayed significant delays across more aspects of their feeding development than pre-term infants who received less than 2 weeks of NG feeding (PT

New concepts for distinguishing the hidden patterns of linkage disequilibrium which underlie association between genotypes and complex phenotypes

A disappointing feature of conventional methods for detecting association between DNA variation and a phenotype of interest is that they tell us little about the hidden pattern of linkage disequilibrium (LD) with the functional variant that is actually responsible for the association. This limitation applies to case-control studies and also to the transmission/disequilibrium test (TDT) and other family-based association methods. Here we present a fresh perspective on genetic association based on two novel concepts called 'LD squares' and 'equi-risk alleles'. These describe and characterize the different patterns of gametic LD which underlie genetic association. These concepts lead to a general principle - the Equi-Risk Allele Segregation Principle - which captures the way in which underlying LD patterns affect the transmission patterns of genetic variants associated with a phenotype. This provides a basis for distinguishing the hidden LD patterns and might help to locate the functional variants responsible for the association.

Multivariate genetic analysis of academic skills of the Queensland Core Skills Test and IQ highlight the importance of genetic g

This study examined the genetic and environmental relationships among 5 academic achievement skills of a standardized test of academic achievement, the Queensland Core Skills Test (QCST; Queensland Studies Authority, 2003a). QCST participants included 182 monozygotic pairs and 208 dizygotic pairs (mean 17 years +/- 0.4 standard deviation). IQ data were included in the analysis to correct for ascertainment bias. A genetic general factor explained virtually all genetic variance in the component academic skills scores, and accounted for 32% to 73% of their phenotypic variances. It also explained 56% and 42% of variation in Verbal IQ and Performance IQ respectively, suggesting that this factor is genetic g. Modest specific genetic effects were evident for achievement in mathematical problem solving and written expression. A single common factor adequately explained common environmental effects, which were also modest, and possibly due to assortative mating. The results suggest that general academic ability, derived from genetic influences and to a lesser extent common environmental influences, is the primary source of variation in component skills of the QCST.

The association between early minor motor difficulties in extreme low birth weight infants and school age attentional difficulties

Introduction: Extremely premature infants of normal intellectual ability have an increased prevalence of motor and attentional difficulties. Knowledge of the relationship between early motor difficulties and measures of attention at school age would enhance understanding of these developmental pathways, their interrelationship and opportunities for intervention. Objective: This study examines whether an association exists between early findings of minor motor difficulties and school age clinical and psychometric measures of attention. Methodology: 45/60 eligible ELBW(1000 g) or preterm (< 27/40 gestation) infants born at the Mater Mother's Hospital were assessed at 12 and 24 months for minor motor deficits (using NSMDA) and at 7-9 years for attention, using clinical (Conners and Du Paul Rating Scales) and psychometric (assessing attention span, selective and divided attention) measures. Results: NSMDA at 12 months was only associated with the psychometric measures of verbal attention span. It was not associated with later clinical measures of attention. NSMDA at 24months was strongly associated with specific clinical measures of attention at school age, independent of biological and social factors. It was not associated with psychometric measures of attention. Conclusion: The major finding of this study is that motor difficulties in ELBW infants at 2 years are associated with later clinical measures of attention. Possible mechanisms underlying this relationship are considered. Crown Copyright (c) 2005 Published by Elsevier Ireland Ltd. All rights reserved.

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism

Objective To determine the long-term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis. Methods A retrospective cohort study was performed comparing 36 children in whom CPM had been diagnosed prenatally with 195 controls subjects in whom a normal karyotype had been detected prenatally. Data comprising birth information, health, health service utilisation, growth, development, behaviour, and the family were collected by a maternal questionnaire administered when the subjects were aged between 4 and 11 years. Results CPM cases did not differ from controls across a broad range of health measures and there were no major health problems or birth defects among the CPM group. No increase was detected in the incidence of intrauterine growth retardation (IUGR) among CPM cases; however, postnatal growth was reduced compared with controls (p = 0.047). Development and behaviour in CPM cases was similar to that of controls. Conclusions The prenatal diagnosis of CPM is not associated with an increased risk of birth defects or developmental problems, but may be associated with decreased growth. Copyright (C) 2006 John Wiley & Sons, Ltd.