Female fertility is a complex trait with age-specific changes in spontaneous dizygotic (DZ) twinning and fertility. To elucidate factors regulating female fertility and infertility, we conducted a genome-wide association study (GWAS) on mothers of spontaneous DZ twins (MoDZT) versus controls (3273 cases, 24,009 controls). This is a follow-up study to the Australia/New Zealand (ANZ) component of that previously reported (Mbarek et al., 2016), with a sample size almost twice that of the entire discovery sample meta-analysed in the previous article (and five times the ANZ contribution to that), resulting from newly available additional genotyping and representing a significant increase in power. We compare analyses with and without male controls and show unequivocally that it is better to include male controls who have been screened for recent family history, than to use only female controls. Results from the SNP based GWAS identified four genomewide significant signals, including one novel region, ZFPM1 (Zinc Finger Protein, FOG Family Member 1), on chromosome 16. Previous signals near FSHB (Follicle Stimulating Hormone beta subunit) and SMAD3 (SMAD Family Member 3) were also replicated (Mbarek et al., 2016). We also ran the GWAS with a dominance model that identified a further locus ADRB2 on chr 5. These results have been contributed to the International Twinning Genetics Consortium for inclusion in the next GWAS meta-analysis (Mbarek et al., in press).

Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.

FFQ are commonly used to examine the association between diet and disease. They are the most practical method for usual dietary data collection as they are relatively inexpensive and easy to administer. In Australia, the Cancer Council of Victoria FFQ (CCVFFQ) version 2 and the online Commonwealth Scientific and Industrial Research Organisation FFQ (CSIROFFQ) are used. The aim of our study was to establish the level of agreement between nutrient intakes captured using the online CSIROFFQ and the paper-based CCVFFQ. The CCVFFQ and the online CSIROFFQ were completed by 136 healthy participants. FFQ responses were analysed to give g per d intake of a range of nutrients. Agreement between twenty-six nutrient intakes common to both FFQ was measured by a variety of methods. Nutrient intake levels that were significantly correlated between the two FFQ were carbohydrates, total fat, Na and MUFA. When assessing ranking of nutrients into quintiles, on average, 56 % of the participants (for all nutrients) were classified into the same or adjacent quintiles in both FFQ, with the highest percentage agreement for sugar. On average, 21 % of participants were grossly misclassified by three or four quintiles, with the highest percentage misclassification for fibre and Fe. Quintile agreement was similar to that reported by other studies, and we concluded that both FFQ are suitable tools for dividing participants’ nutrient intake levels into high- and low-consumption groups. Use of either FFQ was not appropriate for obtaining accurate estimates of absolute nutrient intakes.

A descriptive cross-sectional study was conducted to (a) determine the prevalence of need for wheel-chair seating intervention in two long-term care facilities in Vancouver, BC, (b) determine the extent of the residents' independent mobility within these facilities, and (c) explore the relationship between proper wheel-chair seating and positioning and independent mobility. The study population comprised 99 wheel-chair-using older adults. Four trained raters assessed need for seating intervention, using the Seating Identification Tool, and quantified extent and frequency of wheel-chair mobility, using the Nursing Home Life-Space Diameter. Results indicated that (a) there was a low need (overall 22%) for wheel-chair seating intervention in the two facilities, (b) half of the residents were independently mobile in their own rooms and on their units, but independent mobility decreased when greater distances needed to be travelled, and (c) the need for wheel-chair seating intervention was the only significant predictor of extent of independent mobility. These findings suggest that, where there are dedicated staff and equipment resources, the need for wheel-chair seating intervention can be minimized and independent mobility for long-term care residents maximized.

The objective of the present paper is to review the methods of measuring micronutrient intake adequacy for individuals and for populations in order to ascertain best practice. A systematic review was conducted to locate studies on the methodological aspects of measuring nutrient adequacy. The results showed that for individuals, qualitative methods (to find probability of adequacy) and quantitative methods (to find confidence of adequacy) have been proposed for micronutrients where there is enough data to set an average nutrient requirement (ANR). If micronutrients do not have ANR, an adequate intake (AI) is often defined and can be used to assess adequacy, provided the distribution of daily intake over a number of days is known. The probability of an individual's intake being excessive can also be compared with the upper level of safe intake and the confidence of this estimate determined in a similar way. At the population level, adequacy can be judged from the ANR using the probability approach or its short cut – the estimated average requirement cut-point method. If the micronutrient does not have an ANR, adequacy cannot be determined from the average intake and must be expressed differently. The upper level of safe intake can be used for populations in a similar way to that of individuals. All of the methodological studies reviewed were from the American continent and all used the methodology described in the Institute of Medicine publications. The present methodology should now be adapted for use in Europe.

Isolates of Trypanosoma cruzi from human patients, domestic and sylvatic animals and vector insects were obtained in different areas of Argentina. Electrophoretic patterns of enzymes from extracts of 95 isolates were analysed. On the basis of zymograms providing information on 10 loci, 12 zymodemes are described according to their genotypes. Data presented show fixed heterozygosity, absence of segregation of genotypes, significant departures from Hardy–Weinberg equilibrium, and over-represented genotypes. This evidence supports the hypothesis that sexual reproduction is very restricted or absent in this parasite. The proportion of polymorphic loci is 80%. The expected mean heterozygosity per locus (He) is 0·43, while the observed value (Ho) is 0·24. Differences between these values may be explained by accepting a basically clonal structure for T. cruzi. The data matrix of 12 zymodemes using 28 characters was analysed using a Wagner parsimony algorithm. Two equally most parsimonious unrooted trees were generated; both have 39 steps. The results show clusters clearly separated according to the geographical origin of the stocks. There are some indications of some correlations between genetic composition of the parasite and the clinical picture of the infection in human patients.

Genetic variation was investigated in five subtidal locations from the north of San Matías Gulf (42°23′S) to the north of San Jorge Gulf (45°02′S). Fifteen loci were studied by means of vertical starch gel electrophoresis; ten loci were polymorphic. The percentages of polymorphic loci (P0·99 and P0·95 criteria) varied between 40% and 53·33% and between 33·33% and 46·67%, respectively. Expected mean heterozygosity per locus (He) ranged from 0·128 (Bajo Oliveira-El Sótano) to 0·160 (Puerto Madryn); this range is similar to those observed for other scallop species. All the loci were in Hardy–Weinberg equilibrium. The estimated genetic distances among populations were significantly lower than those reported for comparisons between populations of different pectinid species, suggesting that the five populations studied belong to the same species (Aequipecten tehuelchus). The absence of exclusive fixed alleles also supported that assumption. The results obtained suggest: (i) assignment of species or subspecies status to some morphological variants of the shells, like the ‘madrynensis’ form is not supported; (ii) the commercially exploited Tehuelche scallop from San Matías and San José Gulfs should be managed as distinct stocks.

Le développement en France d'un nouveau procédé d'enrichissement par laser de l'uranium nous a conduits à étudier en situation industrielle les risques radiotoxiques liés à la formation d'un aérosol de type UO2+Umétal. Le but de ce travail est de déterminer pour ce mélange d'oxydes d'uranium les paramètres physico-chimiques et biocinétiques spécifiques à ce composé et nécessaires ultérieurement pour le calcul de dose, ceci en fonction du nouveau modèle pulmonaire décrit par la CIPR 66. Les résultats concernant les mesures de diamètre aérodynamique médian en activité (DAMA) donnent des valeurs comprises entre 5,2 et 10 µm avec jusqu'à 20 % de particules inférieures à 1 µm, tandis que les concentrations au poste de travail varient de 1,8 à 125 Bq m-3 et le calcul des périodes biologiques conduit à 48 j pour les tests de dissolution in vitro et à 77 j pour les expériences d'inhalation in vivo, les valeurs de taux de dissolution obtenues permettent d'affirmer que ce composé est de type W suivant la classification de la CIPR 30 et de type M suivant la CIPR 66.