Water drinking influences eye length and IOP in young healthy subjects

This study aimed to investigate the influence of water loading upon intraocular pressure (IOP), ocular pulse amplitude (OPA) and axial length. Twenty one young adult subjects who were classified based on their spherical equivalent refraction as either myopes (n=11), or emmetropes (n=10) participated. Measures of IOP, OPA and ocular biometrics were collected before, and then 10, 15, 25 and 30 minutes following the ingestion of 1000 ml of water. Significant increases in both IOP and OPA were found to occur following water loading (p<0.0001), with peaks in both parameters occurring at 10 minutes after water loading (mean ± SEM increase of 2.24 ± 0.31 mmHg in IOP and 0.46 ± 0.06 mmHg in OPA). Axial length was found to reduce significantly following water loading (p=0.0005), with the largest reduction in axial length evident 10 minutes after water drinking (mean decrease 12 ± 3 µm). A significant time by refractive error group interaction (p=0.048) was found in axial length, indicative of a different pattern of change in eye length following water loading between the myopic and emmetropic populations. The largest difference in axial length change was evident at 10 minutes after water loading with a 17 ± 5 µm reduction in axial length evident in the myopes and only a 6 ± 2 µm reduction in the emmetropes. These findings illustrate significant changes in ocular parameters in young adult subjects following water loading.

Infertility resolved with or without fertility treatment in Australian women aged 31-36 years: A prospective, population-based study [abstract]

Birth outcomes during a three year period were compared for women with a history of infertility who did or did not use fertility treatment with hormones and/or in vitro fertilisation. Participants in the Australian Longitudinal Study on Women’s Health born in 1973-78 were randomly selected from the universal public health insurance database and completed up to five mailed surveys (1996-2009). Participants reported on their infertility and use of treatment at age 28-33 years (survey 4 (S4) in 2006) and 31-36 years (survey 5 (S5) in 2009). The odds of resolved infertility at S5 were estimated using logistic regression with adjustment for age, area of residence, private health insurance and male infertility. Among 7280 women who responded to both S4 and S5, 18.6% (n=1378) reported infertility. More than half (n=804, 56.8%) of these women did not use treatment and 43.9% (n=347) gave birth between S4 and S5. Compared to infertile women who did not use treatment, women who used treatment were more likely at S5 to have recently given birth (odds ratio (OR) = 1.59, 95% CI 1.26-2.00) or be pregnant (OR = 1.77, 1.27-2.46). Further, women who used treatment were more likely to have twins (3.37, 1.18-9.62), premature births (1.52, 0.95-2.43), or low birthweight babies (1.83, 0.70-2.53) compared to women who gave birth without using treatment. Many women aged up to 36 years with a history of infertility can conceive naturally over a three year period without the use of treatment.Women who have never had a prior birth may need to use treatment to resolve their infertility but they are at higher risk of poorer perinatal outcomes, such as premature or low birthweight babies.

Vitamin D intake, sun exposure and 25-hydroxy vitamin D status in Peritoneal dialysis (PD) and Haemodialysis (HD) patients

Inadequate vitamin D levels have been linked to bone disease but more recently have been associated with wider health implications. Limited studies suggest a high prevalence of Vitamin D deficiency in dialysis patients, although evidence is lacking on whether this is due to dietary restrictions, limited mobility and time outdoors or a combination of these. The aim of this study was to assess the contributions of diet, supplements and sunlight exposure to serum Vitamin D (25(OH)D) levels in dialysis patients. Cross-sectional data were obtained from 30 PD (Mean±SD age 56.9±16.2 y; n=13 male) and 22 HD (Mean±SD age 65.4±14.0 y; n=18 male) patients between 2009 and 2010. Serum 25(OH)D was measured and oral vitamin D intake estimated through a food-frequency-questionnaire and quantifying inactive supplementation. Sunlight exposure was assessed using a validated questionnaire. Prevalence of inadequate/insufficient vitamin D differed between dialysis modality (31% and 43% insufficient (<50nmol/L); 4% and 34% deficient (<25nmol/L) in HD and PD patients respectively (p=0.002)). In HD patients, there was a significant correlation between diet plus supplemental vitamin D intake and 25(OH)D (ρ=0.84, p<0.001). Results suggest a higher frequency of 25(OH)D inadequacy/deficiency in PD compared to HD patients. No other relationships between intake, sun exposure and 25(OH)D were seen. This could reflect limitations of the study design or the importance of other factors such as age, ethnicity and sun protection as interactions in the analysis. Understanding these factors is important given Vitamin D’s emerging status as a biomarker of systemic ill health.

Toddlers’ food preferences : the impact of novel food exposure, maternal preferences and food neophobia

Food preferences have been identified as a key determinant of children’s food acceptance and consumption. The aim of this study was to identify factors that influence children’s liking for fruits, vegetables and non-core foods. Participants were Australian mothers (median age at delivery=31 years, 18-46 years) and their two-year-old children (M=25 months, SD=1 month; 52% female) allocated to the control group (N=230) of the NOURISH RCT. The effects of repeated exposure to new foods, maternal food preferences and child food neophobia on toddlers’ liking of vegetables, fruits and non-core foods and the proportion never tried were examined via hierarchical regression models; adjusting for key maternal (age, BMI, education) and child covariates (birth weight Z-score, gender), duration of breastfeeding and age of introduction to solids. Maternal preferences corresponded with child preferences. Food neophobia among toddlers was associated with liking fewer vegetables and fruits, and trying fewer vegetables. Number of repeated exposures to new food was not significantly associated with food liking at this age. Results highlight the need to: (i) encourage parents to offer a wide range of foods, regardless of their own food preferences, and (ii) provide parents with guidance on managing food neophobia.

25 million years to break a continent : early to middle Miocene rifting and syn-extensional magmatism in the southern Gulf of California

Cenozoic extension in western Mexico has been divided into two episodes separated by the change from convergence to oblique divergence at the plate boundary. The Gulf Extensional Province is thought to have started once subduction ended at ~12.5 Ma whereas early extension is classified as Basin and Range. Mid-Miocene volcanism of the Comondú group has been considered as a subduction-related arc, whereas post ~12.5 Ma volcanism would be extension-related. Our new integration of the continental onshore and offshore geology of the south-east Gulf region, backed by tens of Ar-Ar and U-Pb ages and geochemical studies, document an early-mid Miocene rifting and extension-related bimodal to andesitic magmatism prior to subduction termination. Between ~21 and 11 Ma a system of NNW-SSE high-angle extensional faults rifted the western side of the Sierra Madre Occidental (SMO) ignimbrite plateau. In Nayarit, rhyolitic domes and some basalts were emplaced along this extensional belt at 18-17 Ma. These rocks show strong antecrystic inheritance but an absence of Mesozoic and older xenocrysts, suggesting a genesis in the mid-upper crust triggered by extension-induced basaltic influx. In Sinaloa, large grabens were floored by huge dome complexes at ~21-17 Ma and filled by continental sediments with interlayered basalts dated at 15 Ma. Mid-Miocene volcanism, including the largely volcaniclastic Comondú strata in Baja California, was thus emplaced in rift basins and appears associated to decompression melting rather than subduction. Along the coast, flat-lying basaltic lava flows dated at 11-10 Ma are exposed just above the present sea level. Here crustal thickness is 25-20 Km, almost half that in the core of the SMO, implying significant lithosphere stretching before ~11 Ma. This mafic pulse, with relatively high Ti but still clear Nb-Ta negative spikes, may be related to the detachment of the lower part of the subducted slab, allowing asthenosphere to flow into parts of the mantle previously fluxed by subduction fluids. Very uniform OIB-like lavas appear in late Pliocene and Pleistocene, only 18 m.y. after the onset of rifting and ~9 m.y. after the end of subduction. Our study shows that rifting began much earlier than Late Miocene and progressively overwhelmed subduction in generating magmatism.

Area of residence is associated with Australian women’s uptake of long-acting contraception

Objective: Several new types of contraception became available in Australia over the last twelve years (the implant in 2001, progestogen intra-uterine device (IUD) in 2003, and vaginal contraceptive ring in 2007). Most methods of contraception require access to health services. Permanent sterilisation and the insertion of an implant or IUD involve a surgical procedure. Access to health professionals providing these specialised services may be more difficult in rural areas. This paper examines uptake of permanent or long-acting reversible contraception (LARCs) among Australian women in rural areas compared to women in urban areas. Method: Participants in the Australian Longitudinal Study on Women's Health born in 1973-78 reported on their contraceptive use at three surveys: 2003, 2006 and 2009. Contraceptive methods included permanent sterilisation (tubal ligation, vasectomy), non-daily or LARC methods (implant, IUD, injection, vaginal ring), and other methods including daily, barrier or "natural" methods (oral contraceptive pills, condoms, withdrawal, safe period). Sociodemographic, reproductive history and health service use factors associated with using permanent, LARC or other methods were examined using a multivariable logistic regression analysis. Results: Of 9,081 women aged 25-30 in 2003, 3% used permanent methods and 4% used LARCs. Six years later in 2009, of 8,200 women (aged 31-36), 11% used permanent methods and 9% used LARCs. The fully adjusted parsimonious regression model showed that the likelihood of a woman using LARCs and permanent methods increased with number of children. Women whose youngest child was school-age were more likely to use LARCs (OR=1.83, 95%CI 1.43-2.33) or permanent methods (OR=4.39, 95%CI 3.54-5.46) compared to women with pre-school children. Compared to women living in major cities, women in inner regional areas were more likely to use LARCs (OR=1.26, 95%CI 1.03-1.55) or permanent methods (OR=1.43, 95%CI 1.17-1.76). Women living in outer regional and remote areas were more likely than women living in cities to use LARCs (OR=1.65, 95%CI 1.31-2.08) or permanent methods (OR=1.69, 95%CI 1.43-2.14). Women with poorer access to GPs were more likely to use permanent methods (OR=1.27, 95%CI 1.07-1.52). Conclusions: Location of residence and access to health services are important factors in women's choices about long-acting contraception in addition to the number and age of their children. There is a low level of uptake of non-daily, long-acting methods of contraception among Australian women in their mid-thirties.

Physical performance profile of sub-elite juvenile Gaelic Games players and the prevalence of a Relative Age Effect (RAE)

Gaelic Games are the indigenous sports played in Ireland, the most popular being Gaelic football and hurling. The games are contact sports and the physical demands are thought to be similar to those of Australian Rules football, rugby union, rugby league, field hockey, and lacrosse (Delahunt et al., 2011). The difference in chronological age between children in a single age group is known as relative age and its consequences as the RAE, whereby younger players are disadvantaged (Del Campo et al., 2010). The purpose of this study was to describe the physical and performance profile of sub-elite juvenile Gaelic Games players and to establish if a RAE is present in this cohort and any influence physiological moderator variables may have on this. Following receipt of ethical approval (EHSREC11-45), six sub-elite county development squads (Under-14/15/16 age groups, male, n=115) volunteered to partake in the study. Anthropometric data including skin folds and girths were collected. A number of field tests of physical performance including 5 and 20m speed, vertical and broad jump distance, and an estimate of VO2max were carried out. Descriptive data are presented as Mean SD. Juvenile sub-elite Gaelic Games players aged 14.53 0.82 y were 172.87 7.63 cm tall, had a mass of 64.74 11.06 kg, a BMI of 21.57 2.82 kg.m-2 and 9.22 4.78 % body fat. Flexibility, measured by sit and reach was 33.62 6.86 cm and lower limb power measured by vertical and broad jump were 42.19 5.73 and 191.16 25.26 cm, respectively. Participant time to complete 5m, 20m and an agility test (T-Test) was 1.12 0.07, 3.31 0.30 and 9.31 0.55 s respectively. Participant’s estimated VO2max was 48.23 5.05 ml.kg.min-1. Chi-Square analysis of birth month by quartile (Q1 = January-March) revealed that a RAE was present in this cohort, whereby an over-representation of players born in Q1 compared with Q2, Q3 and Q4 was evident (2 = 14.078, df = 3, p = 0.003). Kruskal-Wallis analysis of the data revealed no significant difference in any of the performance parameters based on quartile of birth (Alpha level = 0.05).This study provides a physical performance profile of juvenile sub-elite Gaelic Games players, comparable with those of other sports such as soccer and rugby. This novel data can inform us of the physical requirements of the sport. The evidence of a RAE is similar to that observed in other contact sports such as soccer and rugby league (Carling et al, 2009; Till et al, 2010). Although a RAE exists in this cohort, this cannot be explained by any physical/physiological moderator variables. Carling C et al. (2009). Scandinavian Journal of Medicine and Science in Sport 19, 3-9. Delahunt E et al. (2011). Journal of Athletic Training 46, 241-5. Del Campo DG et al. (2010). Journal of Sport Science and Medicine 9, 190-198. Delorme N et al. (2010). European Journal of Sport Science 10, 91-96. Till K et al. (2010). Scandinavian Journal of Medicine and Science in Sports 20, 320-329.

Nutritional status of Ugandan women living with HIV/AIDS : anthropometry and body composition assessment

Human immunodeficiency virus (HIV) that leads to acquired immune deficiency syndrome (AIDs) reduces immune function, resulting in opportunistic infections and later death. Use of antiretroviral therapy (ART) increases chances of survival, however, with some concerns regarding fat re-distribution (lipodystrophy) which may encompass subcutaneous fat loss (lipoatrophy) and/or fat accumulation (lipohypertrophy), in the same individual. This problem has been linked to Antiretroviral drugs (ARVs), majorly, in the class of protease inhibitors (PIs), in addition to older age and being female. An additional concern is that the problem exists together with the metabolic syndrome, even when nutritional status/ body composition, and lipodystrophy/metabolic syndrome are unclear in Uganda where the use of ARVs is on the increase. In line with the literature, the overall aim of the study was to assess physical characteristics of HIV-infected patients using a comprehensive anthropometric protocol and to predict body composition based on these measurements and other standardised techniques. The other aim was to establish the existence of lipodystrophy, the metabolic syndrome, andassociated risk factors. Thus, three studies were conducted on 211 (88 ART-naïve) HIV-infected, 15-49 year-old women, using a cross-sectional approach, together with a qualitative study of secondary information on patient HIV and medication status. In addition, face-to-face interviews were used to extract information concerning morphological experiences and life style. The study revealed that participants were on average 34.1±7.65 years old, had lived 4.63±4.78 years with HIV infection and had spent 2.8±1.9 years receiving ARVs. Only 8.1% of participants were receiving PIs and 26% of those receiving ART had ever changed drug regimen, 15.5% of whom changed drugs due to lipodystrophy. Study 1 hypothesised that the mean nutritional status and predicted percent body fat values of study participants was within acceptable ranges; different for participants receiving ARVs and the HIV-infected ART-naïve participants and that percent body fat estimated by anthropometric measures (BMI and skinfold thickness) and the BIA technique was not different from that predicted by the deuterium oxide dilution technique. Using the Body Mass Index (BMI), 7.1% of patients were underweight (<18.5 kg/m2) and 46.4% were overweight/obese (≥25.0 kg/m2). Based on waist circumference (WC), approximately 40% of the cohort was characterized as centrally obese. Moreover, the deuterium dilution technique showed that there was no between-group difference in the total body water (TBW), fat mass (FM) and fat-free mass (FFM). However, the technique was the only approach to predict a between-group difference in percent body fat (p = .045), but, with a very small effect (0.021). Older age (β = 0.430, se = 0.089, p = .000), time spent receiving ARVs (β = 0.972, se = 0.089, p = .006), time with the infection (β = 0.551, se = 0.089, p = .000) and receiving ARVs (β = 2.940, se = 1.441, p = .043) were independently associated with percent body fat. Older age was the greatest single predictor of body fat. Furthermore, BMI gave better information than weight alone could; in that, mean percentage body fat per unit BMI (N = 192) was significantly higher in patients receiving treatment (1.11±0.31) vs. the exposed group (0.99±0.38, p = .025). For the assessment of obesity, percent fat measures did not greatly alter the accuracy of BMI as a measure for classifying individuals into the broad categories of underweight, normal and overweight. Briefly, Study 1 revealed that there were more overweight/obese participants than in the general Ugandan population, the problem was associated with ART status and that BMI broader classification categories were maintained when compared with the gold standard technique. Study 2 hypothesized that the presence of lipodystrophy in participants receiving ARVs was not different from that of HIV-infected ART-naïve participants. Results showed that 112 (53.1%) patients had experienced at least one morphological alteration including lipohypertrophy (7.6%), lipoatrophy (10.9%), and mixed alterations (34.6%). The majority of these subjects (90%) were receiving ARVs; in fact, all patients receiving PIs reported lipodystrophy. Period spent receiving ARVs (t209 = 6.739, p = .000), being on ART (χ2 = 94.482, p = .000), receiving PIs (Fisher’s exact χ2 = 113.591, p = .000), recent T4 count (CD4 counts) (t207 = 3.694, p = .000), time with HIV (t125 = 1.915, p = .045), as well as older age (t209 = 2.013, p = .045) were independently associated with lipodystrophy. Receiving ARVs was the greatest predictor of lipodystrophy (p = .000). In other analysis, aside from skinfolds at the subscapular (p = .004), there were no differences with the rest of the skinfold sites and the circumferences between participants with lipodystrophy and those without the problem. Similarly, there was no difference in Waist: Hip ratio (WHR) (p = .186) and Waist: Height ratio (WHtR) (p = .257) among participants with lipodystrophy and those without the problem. Further examination showed that none of the 4.1% patients receiving stavudine (d4T) did experience lipoatrophy. However, 17.9% of patients receiving EFV, a non-nucleoside reverse transcriptase inhibitor (NNRTI) had lipoatrophy. Study 2 findings showed that presence of lipodystrophy in participants receiving ARVs was in fact far higher than that of HIV-infected ART-naïve participants. A final hypothesis was that the prevalence of the metabolic syndrome in participants receiving ARVs was not different from that of HIV-infected ART-naïve participants. Moreover, data showed that many patients (69.2%) lived with at least one feature of the metabolic syndrome based on International Diabetic Federation (IDF, 2006) definition. However, there was no single anthropometric predictor of components of the syndrome, thus, the best anthropometric predictor varied as the component varied. The metabolic syndrome was diagnosed in 15.2% of the subjects, lower than commonly reported in this population, and was similar between the medicated and the exposed groups (χ 21 = 0.018, p = .893). Moreover, the syndrome was associated with older age (p = .031) and percent body fat (p = .012). In addition, participants with the syndrome were heavier according to BMI (p = .000), larger at the waist (p = .000) and abdomen (p = .000), and were at central obesity risk even when hip circumference (p = .000) and height (p = .000) were accounted for. In spite of those associations, results showed that the period with disease (p = .13), CD4 counts (p = .836), receiving ART (p = .442) or PIs (p = .678) were not associated with the metabolic syndrome. While the prevalence of the syndrome was highest amongst the older, larger and fatter participants, WC was the best predictor of the metabolic syndrome (p = .001). Another novel finding was that participants with the metabolic syndrome had greater arm muscle circumference (AMC) (p = .000) and arm muscle area (AMA) (p = .000), but the former was most influential. Accordingly, the easiest and cheapest indicator to assess risk in this study sample was WC should routine laboratory services not be feasible. In addition, the final study illustrated that the prevalence of the metabolic syndrome in participants receiving ARVs was not different from that of HIV-infected ART-naïve participants.

The impact of neighborhood walkability on walking : does it differ across adult life stage and does neighborhood buffer size matter?

We explored the impact of neighborhood walkability on young adults, early-middle adults, middle-aged adults, and older adults' walking across different neighborhood buffers. Participants completed the Western Australian Health and Wellbeing Surveillance System Survey (2003–2009) and were allocated a neighborhood walkability score at 200 m, 400 m, 800 m, and 1600 m around their home. We found little difference in strength of associations across neighborhood size buffers for all life stages. We conclude that neighborhood walkability supports more walking regardless of adult life stage and is relevant for small (e.g., 200 m) and larger (e.g., 1600 m) neighborhood buffers.

Serum 25-hydroxy vitamin D concentrations are more deficient/insufficient in peritoneal dialysis than haemodialysis patients in a sunny climate

Background Research has identified associations between serum 25(OH)D and a range of clinical outcomes in chronic kidney disease and wider populations. The present study aimed to investigate vitamin D deficiency/insufficiency in dialysis patients and the relationship with vitamin D intake and sun exposure. Methods A cross-sectional study was used. Participants included 30 peritoneal dialysis (PD) (43.3% male; 56.87 ± 16.16 years) and 26 haemodialysis (HD) (80.8% male; 63.58 ± 15.09 years) patients attending a department of renal medicine. Explanatory variables were usual vitamin D intake from diet/supplements (IU day−1) and sun exposure (min day−1). Vitamin D intake, sun exposure and ethnic background were assessed by questionnaire. Weight, malnutrition status and routine biochemistry were also assessed. Data were collected during usual department visits. The main outcome measure was serum 25(OH)D (nm). Results Prevalence of inadequate/insufficient vitamin D intake differed between dialysis modality, with 31% and 43% found to be insufficient (<50 nm) and 4% and 33% found to be deficient (<25 nm) in HD and PD patients, respectively (P < 0.001). In HD patients, there was a correlation between diet and supplemental vitamin D intake and 25(OH)D (ρ = 0.84, P < 0.001) and average sun exposure and 25(OH)D (ρ = 0.50, P < 0.02). There were no associations in PD patients. The results remained significant for vitamin D intake after multiple regression, adjusting for age, gender and sun exposure. Conclusions The results highlight a strong association between vitamin D intake and 25(OH)D in HD but not PD patients, with implications for replacement recommendations. The findings indicate that, even in a sunny climate, many dialysis patients are vitamin D deficient, highlighting the need for exploration of determinants and consequences.

Reliability and reproducibility of a handheld videorefractor

PURPOSE To assess the performance of the 2Win eccentric videorefractor in relation to subjective refraction and table-mounted autorefraction. METHODS Eighty-six eyes of 86 adults (46 male and 40 female subjects) aged between 20 and 25 years were examined. Subjective refraction and autorefraction using the table-mounted Topcon KR8800 and the handheld 2Win videorefractor were carried out in a randomized fashion by three different masked examiners. Measurements were repeated about 1 week after to assess instrument reproducibility, and the intertest variability was compared between techniques. Agreement of the 2Win videorefractor with subjective refraction and autorefraction was assessed for sphere and for cylindrical vectors at 0 degrees (J0) and 45 degrees (J45). RESULTS Reproducibility coefficients for sphere values measured by subjective refraction, Topcon KR8800, and 2Win (±0.42, ±0.70, and ±1.18, respectively) were better than their corresponding J0 (±1.0, ±0.85, and ±1.66) and J45 (±1.01, ±0.87, and ±1.31) vector components. The Topcon KR8800 showed the most reproducible values for mean spherical equivalent refraction and the J0 and J45 vector components, whereas reproducibility of spherical component was best for subjective refraction. The 2Win videorefractor measurements were the least reproducible for all measures. All refractive components measured by the 2Win videorefractor did not differ significantly from those of subjective refraction, in both sessions (p > 0.05). The Topcon KR8800 autorefractometer and the 2Win videorefractor measured significantly more positive spheres and mean spherical equivalent refraction (p < 0.0001), but the J0 and J45 vector components were similar (p > 0.05), in both sessions. CONCLUSIONS The 2Win videorefractor compares well, on average, with subjective refraction. The reproducibility values for the 2Win videorefractor were considerably worse than either subjective refraction or autorefraction. The wide limits of reproducibility of the 2Win videorefractor probably limit its usefulness as a primary screening device.

Associations between individual socioeconomic position, neighbourhood disadvantage, and transport mode: Baseline results from the HABITAT multilevel study

Background Understanding how different socioeconomic indicators are associated with transport modes provide insight into which interventions might contribute to reducing socioeconomic inequalities in health. The purpose of this study was to examine associations between neighbourhood-level socioeconomic disadvantage, individual-level socioeconomic position (SEP) and usual transport mode. Methods This investigation included 11,036 residents from 200 neighbourhoods in Brisbane, Australia. Respondents self-reported their usual transport mode (car or motorbike, public transport, walking or cycling). Indicators for individual-level SEP were education, occupation, and household income; and neighbourhood disadvantage was measured using a census-derived index. Data were analysed using multilevel multinomial logistic regression. High SEP respondents and residents of the most advantaged neighbourhoods who used a private motor vehicle as their usual form of transport was the reference category. Results Compared with driving a motor vehicle, the odds of using public transport were higher for white collar employees (OR1.68, 95%CrI 1.41-2.01), members of lower income households (OR 1.71 95%CrI 1.25-2.30), and residents of more disadvantaged neighbourhoods (OR 1.93, 95%CrI 1.46-2.54); and lower for respondents with a certificate-level education (OR 0.60, 95%CrI 0.49-0.74) and blue collar workers (OR 0.63, 95%CrI 0.50-0.81). The odds of walking for transport were higher for the least educated (OR 1.58, 95%CrI 1.18-2.11), those not in the labour force (OR 1.94, 95%CrI 1.38-2.72), members of lower income households (OR 2.10, 95%CrI 1.23-3.64), and residents of more disadvantaged neighbourhoods (OR 2.73, 95%CrI 1.46-5.24). The odds of cycling were lower among less educated groups (OR 0.31, 95% CrI 0.19-0.48). Conclusion The relationships between socioeconomic characteristics and transport modes are complex, and provide challenges for those attempting to encourage active forms of transportation. Further work is required exploring the individual- and neighbourhood-level mechanisms behind transport mode choice, and what factors might influence individuals from different socioeconomic backgrounds to change to more active transport modes.

The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

Objective: To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. Methods: Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls. Results: The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified. Conclusions: The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population. The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases. Most patients had a positive family history. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families.