Human active X-specific DNA methylation events showing stability across time and tissues.

The phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic expression. The temporal series of events that culminates in inactive X-specific gene silencing by DNA methylation has revealed a 'patchwork' of gene inactivation along the chromosome, with approximately 15% of genes escaping. Such genes are therefore potentially subject to sex-specific imbalance between males and females.

Plasma retinol and total carotenes and fracture risk after long-term supplementation with high doses of retinol.

Objective: Observational studies suggest that moderate intakes of retinol and increased circulating retinol levels may increase fracture risk. Easy access to supplements, combined with an aging population, makes this a potentially important association. The aim of this study was to investigate plasma retinol and total carotene concentrations in relation to fracture risk after long-term supplementation with retinol and/or beta-carotene in 998 adults between 1990 and 2007.

Comparative analysis of outcome measures used in examining neurodevelopmental effects of early childhood anesthesia exposure.

Introduction: Immature animals exposed to anesthesia display apoptotic neurodegeneration and neurobehavioral deficits. The safety of anesthetic agents in children has been evaluated using a variety of neurodevelopmental outcome measures with varied results.

Methods: The authors used data from the Western Australian Pregnancy Cohort (Raine) Study to examine the association between exposure to anesthesia in children younger than 3 yr of age and three types of outcomes at age of 10 yr: neuropsychological testing, International Classification of Diseases, 9th Revision, Clinical Modification-coded clinical disorders, and academic achievement.

Preeclampsia and cardiovascular disease share genetic risk factors on chromosome 2q22.

Objective: Four putative single nucleotide polymorphism (SNP) risk variants at the preeclampsia susceptibility locus on chromosome 2q22; rs2322659 (LCT), rs35821928 (LRP1B), rs115015150 (RND3) and rs17783344 (GCA), were recently shown to associate with known cardiovascular risk factors in a Mexican American cohort. This study aimed to further evaluate the pleiotropic effects of these preeclampsia risk variants in an independent Australian population-based cohort.

Methods: The four SNPs were genotyped in the Western Australian Pregnancy Cohort (Raine) Study that included DNA, clinical and biochemical data from 1246 mothers and 1404 of their now adolescent offspring.

Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in Brazil.

Leprosy remains prevalent in Brazil. ErbB2 is a receptor for leprosy bacilli entering Schwann cells, which mediates Mycobacterium leprae-induced demyelination and the ERBB2 gene lies within a leprosy susceptibility locus on chromosome 17q11-q21. To determine whether polymorphisms at the ERBB2 locus contribute to this linkage peak, three haplotype tagging single nucleotide polymorphisms (tag-SNPs) (rs2517956, rs2952156, rs1058808) were genotyped in 72 families (208 cases; 372 individuals) from the state of Pará (PA).

Prospective associations between dietary patterns and cognitive performance during adolescence.

Background: The aim of the study was to investigate prospective associations between dietary patterns and cognitive performance during adolescence.

Methods: Participants were sourced from the Western Australian Pregnancy Cohort (Raine) Study that includes 2868 children born between 1989 and 1992 in Perth, Western Australia. When the children were 17 years old (2006-2009), cognitive performance was assessed using a computerized cognitive battery of tests (CogState) that included six tasks.

Echocardiographic screening in a resource poor setting: borderline rheumatic heart disease could be a normal variant.

Objective: To estimate the echocardiography confirmed prevalence of rheumatic heart disease (RHD) in school children in Fiji.

Design: Cross-sectional observational study.

Setting: Ten primary schools in Fiji.

Detection of biofilm in bronchoalveolar lavage from children with non-cystic fibrosis bronchiectasis.

Background: The presence of Pseudomonas aeruginosa biofilms in lower airway specimens from cystic fibrosis (CF) patients is well established. To date, biofilm has not been demonstrated in bronchoalveolar lavage (BAL) from people with non-CF bronchiectasis. The aim of this study was to determine (i) if biofilm was present in BAL from children with and without bronchiectasis, and (ii) if biofilm detection differed between sequentially collected BAL.

Birth cohorts in asthma and allergic diseases: report of a NIAID/NHLBI/MeDALL joint workshop.

Population-based birth cohorts on asthma and allergies increasingly provide new insights into the development and natural history of the diseases. More than 130 birth cohorts focusing on asthma and allergy have been initiated in the last 30 years. A National Institute of Allergy and Infectious Diseases; National Heart, Lung, and Blood Institute; Mechanisms of the Development of Allergy (MeDALL; Framework Programme 7 of the European Commission) joint workshop was held in Bethesda, Maryland, on September 11-12, 2012, with 3 objectives: (1) documenting the knowledge that asthma/allergy birth cohorts have provided, (2) identifying the knowledge gaps and inconsistencies, and (3) developing strategies for moving forward, including potential new study designs and the harmonization of existing asthma birth cohort data.

Allergen ligands in the initiation of allergic sensitization.

As investigations into the innate immune responses that lead to allergic sensitization become better defined, there is a need to determine how allergens could interact with pattern recognition receptors that bind non-proteinaceous moieties. Many important allergens are not covalently bound to lipid or carbohydrate, but have structures belonging to lipid, glycan and glycolipid-binding families. These include ML-domain proteins, lipopolysaccharide-binding/cell permeability-increasing proteins, von Ebner gland lipocalins, salivary lipocalins/major urinary proteins, plant pathogenesis-related proteins PR-5 and -10, uteroglobins, non-specific lipid transfer proteins, large lipid transfer proteins and proteins with chitin and other carbohydrate-binding modules.

Antecedent hypoglycaemia does not diminish the glycaemia-increasing effect and glucoregulatory responses of a 10 s sprint in people with type 1 diabetes.

Aims/hypothesis: A 10 s sprint has been reported to provide a means to prevent acute post-exercise hypoglycaemia in young adults with type 1 diabetes because of its glycaemia-raising effect, but it is unclear whether this effect is impaired by antecedent hypoglycaemia. The purpose of this study was to investigate whether antecedent hypoglycaemia impairs the glycaemia-raising effect of a 10 s sprint in individuals with type 1 diabetes.

Methods: Eight individuals underwent a hyperinsulinaemic-hypoglycaemic or hyperinsulinaemic-euglycaemic clamp on two separate mornings.

Rhinovirus exacerbates house-dust-mite induced lung disease in adult mice.

Human rhinovirus is a key viral trigger for asthma exacerbations. To date, murine studies investigating rhinovirus-induced exacerbation of allergic airways disease have employed systemic sensitisation/intranasal challenge with ovalbumin. In this study, we combined human-rhinovirus infection with a clinically relevant mouse model of aero-allergen exposure using house-dust-mite in an attempt to more accurately understand the links between human-rhinovirus infection and exacerbations of asthma.

Low serum 25-hydroxyvitamin D concentrations associate with non-alcoholic fatty liver disease in adolescents independent of adiposity.

Background And Aims: Non-alcoholic fatty liver disease (NAFLD) and serum 25-hydroxyvitamin D (s25[OH]D) concentrations are both associated with adiposity and insulin resistance (IR) and thus may be pathogenically linked. We aimed to determine the prevalence of vitamin D deficiency in adolescents with NAFLD and to investigate the prospective and cross-sectional associations between s25[OH]D concentrations and NAFLD.

Methods: Participants in the population-based West Australian Pregnancy (Raine) Cohort had seasonally adjusted s25(OH)D concentrations determined at ages 14 and then 17 years.

Risk of newly detected infections and cervical abnormalities in women seropositive for naturally acquired human papillomavirus type 16/18 antibodies: analysis of the control arm of PATRICIA.

Background: We examined risk of newly detected human papillomavirus (HPV) infection and cervical abnormalities in relation to HPV type 16/18 antibody levels at enrollment in PATRICIA (Papilloma Trial Against Cancer in Young Adults; NCT00122681).

Methods: Using Poisson regression, we compared risk of newly detected infection and cervical abnormalities associated with HPV-16/18 between seronegative vs seropositive women (15-25 years) in the control arm (DNA negative at baseline for the corresponding HPV type [HPV-16: n = 8193; HPV-18: n = 8463]).

Results: High titers of naturally acquired HPV-16 antibodies and/or linear trend for increasing antibody levels were significantly associated with lower risk of incident and persistent infection, atypical squamous cells of undetermined significance or greater (ASCUS+), and cervical intraepithelial neoplasia grades 1/2 or greater (CIN1+, CIN2+).

The concentration of iron in real-world geogenic PM₁₀ is associated with increased inflammation and deficits in lung function in mice.

Background: There are many communities around the world that are exposed to high levels of particulate matter <10 µm (PM₁₀) of geogenic (earth derived) origin. Mineral dusts in the occupational setting are associated with poor lung health, however very little is known about the impact of heterogeneous community derived particles. We have preliminary evidence to suggest that the concentration of iron (Fe) may be associated with the lung inflammatory response to geogenic PM₁₀.

Gaps in Indigenous disadvantage not closing: a census cohort study of social determinants of health in Australia, Canada, and New Zealand from 1981-2006.

Background: Australia, Canada, and New Zealand are all developed nations that are home to Indigenous populations which have historically faced poorer outcomes than their non-Indigenous counterparts on a range of health, social, and economic measures. The past several decades have seen major efforts made to close gaps in health and social determinants of health for Indigenous persons. We ask whether relative progress toward these goals has been achieved.

IgE and IgG binding patterns and T-cell recognition of Fel d 1 and non-Fel d 1 cat allergens.

Background: Cat allergy affects approximately 15% of the population and is a major risk factor for asthma. The relative importance of cat allergens other than Fel d 1 is not known.

Objective: To compare IgE and IgG antibody binding and T-cell recognition of the major cat allergen Fel d 1 with other cat proteins with known IgE binding properties.

Parental perspectives on the communication abilities of their daughters with Rett syndrome.

Objective: This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication.

Methods: Sixteen interviews were conducted with parents with a daughter with Rett syndrome with a pathogenic mutation in the methyl-CpG-binding protein 2 gene. Interviews were recorded and transcribed verbatim.

Trypanosomes genetic diversity, polyparasitism and the population decline of the critically endangered Australian marsupial, the brush tailed bettong or woylie (Bettongia penicillata).

While much is known of the impact of trypanosomes on human and livestock health, trypanosomes in wildlife, although ubiquitous, have largely been considered to be non-pathogenic. We describe the genetic diversity, tissue tropism and potential pathogenicity of trypanosomes naturally infecting Western Australian marsupials. Blood samples collected from 554 live-animals and 250 tissue samples extracted from 50 carcasses of sick-euthanized or road-killed animals, belonging to 10 species of marsupials, were screened for the presence of trypanosomes using a PCR of the 18S rDNA gene.

GOLink: Finding Cooccurring Terms across Gene Ontology Namespaces.

The Gene Ontology (GO) provides a resource for consistent annotation of genes and gene products that is extensively used by numerous large public repositories. The GO is constructed of three subontologies describing the cellular component of action, molecular function, and overall biological process of a gene or gene product. Querying across the subontologies is problematic and no standard method exists to, for example, find all molecular functions occurring in a particular cellular component.