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Adolescence is a critical time point in the lifecourse. LifeLab is an educational intervention engaging adolescents in understanding Developmental Origins of Health and Disease (DOHaD) concepts and the impact of the early life environment on future health, benefitting both their long-term health and that of the next generation. We aimed to assess whether engaging adolescents with DOHaD concepts improves scientific literacy and whether engagement alone improves health behaviours.
Six schools were randomized, three to intervention and three to control. Outcome measures were changed in knowledge, and intended and actual behaviour in relation to diet and lifestyle. A total of 333 students completed baseline and follow-up questionnaires. At 12 months, intervention students showed greater understanding of DOHaD concepts. No sustained changes in behaviours were identified.
Adolescents’ engagement with DOHaD concepts can be improved and maintained over 12 months. Such engagement does not itself translate into behaviour change. The intervention has consequently been revised to include additional components beyond engagement alone.
Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previously reported patients with biallelic ATP8A2 mutations was carried out at multiple centres. Results: The mean age of the cohort was 9.4 years old (range: 2.5-28 yrs). All patients demonstrated developmental delay, severe hypotonia and movement disorders: chorea/choreoathetosis (100%), dystonia (27%) or facial dyskinesia (18%). Hypotonia was apparent at birth (70%) or before 6 months old (100%). Optic atrophy was observed in 75% of patients who had a funduscopic examination. MRI of the brain was normal for most patients with a small proportion showing mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Epilepsy was seen in two older patients. Conclusions:ATP8A2 gene mutations have emerged as a cause of a novel phenotype characterized by developmental delay, severe hypotonia and hyperkinetic movement disorders. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation. Early recognition of the cardinal features of this condition will facilitate diagnosis of this disorder.
We have recently obtained some interesting results on the global stability characteristics of gaseous and stellar systems using a free–energy variational formulation and Ginzburg–Landau phase transition theory (Christodoulou et al. 1995a, b). For m = 2 nonaxisymmetric modes in particular, we have been able to formulate a new, robust, global stability criterion (Christodoulou, Shlosman, & Tohline 1995, hereafter CST) that avoids many of the problems that plagued the well–known Ostriker & Peebles (1973) criterion. In this article, we briefly summarize the conclusions from the above–cited investigations and we proceed to comment on the stability properties of some interesting stellar models that were discussed during this conference and that are not trivially understood in terms of the new stability criterion.
Human rhinoviruses (HRVs) are widespread respiratory pathogens and a major cause of acute respiratory tract infections. The aim of this study was to investigate the molecular epidemiology of rhinovirus infections in children in Cyprus over three consecutive winter seasons. From a total of 116 rhinovirus-positive samples, 68 were sequenced in the 5’-UTR and VP4/VP2 regions. Thirty-six (52·9%) samples were identified as HRV-A and 27 (39·7%) as HRV-C, with only five (7·4%) samples belonging to the HRV-B species. Of these, a total of 46 different genotypes were identified. In the VP2/VP4 phylogenetic tree all strains clustered in three different well-defined clades, whereas the 5’-UTR tree exhibited clades with a mixed clustering of HRV-A and HRV-C strains reflecting the evolutionary history of recombination between HRV-A and HRV-C that has been observed previously. In summary, a high intra- and inter-season diversity of HRV types was observed. Despite its geographical isolation the frequency of HRV species in Cyprus is comparable to that reported in other regions of the world supporting the concept of an unrestricted global circulation. This study assesses, for the first time, the epidemiology of rhinovirus infections in Cypriot children and will be helpful to clinicians and researchers interested in the treatment and control of viral respiratory tract infections.
We describe preliminary measurements of the pairwise velocity dispersion (PVD) of galaxies in the Galaxy and Mass Assembly (GAMA) survey as a function of projected separation and galaxy luminosity. Due to the faint magnitude limit (r < 19.8) and highly-complete spectroscopic sampling of the GAMA survey, we are able to measure the PVD to smaller scales and for lower-luminosity galaxies than previous SDSS-based work. We see no strong scale-dependence at most luminosities in the quasi-linear regime. We observe an apparent drop in PVD towards very small scales (below ≈ 0.1h−1 Mpc), but this could in part be due to a restriction of the streaming model employed. At intermediate scales, the PVD is highest (~ 500 km/s) at intermediate luminosities, dropping at both fainter and brighter luminosities.
This study reports the epidemiology of respiratory syncytial virus (RSV) in hospitalized children in Cyprus over three successive seasons (2010–2013) and the association between prevalent genotypes and disease severity. RSV infections had a circulation pattern from December to March. Most RSV-positive children (83%) were aged <2 years. Genotyping of RSV isolates showed that during the first winter season of the study (2010–2011), the only RSV genotype circulating was GA2 (RSV-A), followed by genotype BA (RSV-B) in the next winter season with only few sporadic cases of GA2. During the last winter season of the study (2012–2013) the newly emerged RSV genotype ON1 (RSV-A) was virtually the only circulating genotype. Children infected with genotype ON1 suffered a significantly milder illness compared to infections with genotypes GA2 and BA with a higher percentage of BA-infected children requiring oxygen. Our findings are in contrast to the majority of published reports that suggest RSV-A causes more severe illness than RSV-B. Therefore, further investigation of the association between RSV genotypes and disease severity is required, as it might affect treatment strategies in the future.
The aim of this study was to investigate the epidemiology of influenza A virus infection in Cyprus from the 2009 pandemic until 2013. Pandemic influenza A(H1N1)2009 virus infections outnumbered infections with other respiratory viruses until the end of 2009. The pandemic virus was also the prevalent influenza strain during influenza season 2010–2011; however, it was completely replaced by H3N2 subtype in the next season. During the most recent influenza season, 2012–2013, the pandemic strain was once again the only influenza A virus circulating in Cyprus. Full-length neuraminidase gene sequencing revealed mutations that had previously been identified as permissive. No significant difference in the expression of the IFN-inducible genes OAS and IFIT1 were observed. The phylogenetic analysis of the neuraminidase gene sequences revealed a picture of continuous importation of influenza strains in the island of Cyprus with local circulation playing only a minor role in determining the prevalent strain of the next influenza season.
Abnormalities in incentive decision making, typically assessed using the Iowa Gambling Task (IGT), have been reported in both schizophrenia (SZ) and bipolar disorder (BD). We applied the Expectancy–Valence (E–V) model to determine whether motivational, cognitive and response selection component processes of IGT performance are differentially affected in SZ and BD.
Performance on the IGT was assessed in 280 individuals comprising 70 remitted patients with SZ, 70 remitted patients with BD and 140 age-, sex- and IQ-matched healthy individuals. Based on the E–V model, we extracted three parameters, ‘attention to gains or loses’, ‘expectancy learning’ and ‘response consistency’, that respectively reflect motivational, cognitive and response selection influences on IGT performance.
Both patient groups underperformed in the IGT compared to healthy individuals. However, the source of these deficits was diagnosis specific. Associative learning underlying the representation of expectancies was disrupted in SZ whereas BD was associated with increased incentive salience of gains. These findings were not attributable to non-specific effects of sex, IQ, psychopathology or medication.
Our results point to dissociable processes underlying abnormal incentive decision making in BD and SZ that could potentially be mapped to different neural circuits.
The effect of matrix microstructure on the mechanical properties of two model XD™ titanium aluminide composites containing 7 volume percent of either particulate (TiB2) or short-fiber ((Ti,Nb)By) reinforcement has been evaluated. Subsequent to wrought-processing via isothermal forging, heat treatments were performed to produce either a fully equiaxed or fully lamellar matrix microstructure. The synergism between matrix microstructure and reinforcement type has been evaluated for ambient-temperature tensile ductility and fracture toughness, and 800°C tensile strength and creep rate. Results indicate that overall composite performance is strongly dependent on reinforcement shape, the extent of which depends on the morphology of the matrix microstructure.
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found in up to 95% of classical RTT cases and a lesser proportion of atypical cases. Recently, mutations in another X-linked gene, CDKL5 (cyclin-dependent kinase-like 5) have been found to cause atypical RTT, in particular the early onset seizure (Hanefeld variant) and one female with autism. In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n = 102), males with X-linked mental retardation (n = 9), patients with West syndrome (n = 52), patients with autism (n = 59), patients with epileptic encephalopathy (n = 33), patients with Aicardi syndrome (n = 7) and other patients with intellectual disability with or without seizures (n = 54). In all, seven polymorphic variations and four de novo mutations (c.586C>T [p.S196L]; c.58G>C [p.G20R]; c.2504delC [p.P835fs]; deletion of exons 1 - 3) were identified, and in all instances of the latter the clinical phenotype was that of an epileptic encephalopathy. These results suggest that pathogenic CDKL5 mutations are unlikely to be identified in the absence of severe early-onset seizures and highlight the importance of screening for large intragenic and whole gene deletions.
Background: Inhaled corticosteroids (ICS) are the most effective anti-inflammatory treatment for asthmatics. This trial evaluated the effects of prophylactic ICS in firefighters exposed to the World Trade Center disaster.
Methods: Inhaled budesonide via a dry powder inhaler (Pulmicort Turbuhaler, AstraZeneca, Wilmington, DE) was offered on-site to New York City firefighters between September 18 and 25, 2001. One to 2 years later, firefighters (n = 64) who completed 4 weeks of daily ICS treatment were evaluated and compared with an age- and exposure-matched comparison group (n = 72) who did not use ICS.
Results: When spirometry results at the final visit were compared with those from the weeks following the 9/11 disaster, the treatment group had a greater increase in forced vital capacity (P = .009) and possibly a slower decline in forced expiratory volume at 1 second (P = .11), as well as a greater improvement in perceived well-being as assessed by the St George's Respiratory Questionnaire (P < .01). There was no difference in airway hyperreactivity and no evidence of adverse effects from ICS.
Conclusions: Because the potential for hazardous exposures is great at many disasters, disease prevention programs based on environmental controls and respiratory protection are warranted immediately. Our results suggest that, pending further study with a larger sample, prophylactic ICS should be considered, along with respiratory protection, to minimize possible lung insult. (Disaster Med Public Health Preparedness. 2008;2:33–39)
Patients with psychosis have activation of the hypothalamic-pituitary-adrenal (HPA) axis during the acute phase of the psychosis. Whether this has any morphological consequences for the pituitary gland is currently unknown.
To examine pituitary volume variation in people at different stages of psychotic disorder.
Pituitary volume was measured using 1.5 mm, coronal magnetic resonance images in 24 people with first-episode psychosis, 51 with established schizophrenia and 59 healthy controls.
Compared with the control group, the people with first-episode psychosis had pituitary volumes that were 10% larger, whereas those with established schizophrenia had pituitary volumes that were 17% smaller. In both of the groups with psychosis, there was no difference in pituitary volume between those receiving typical antipsychotic drugs and those receiving atypical antipsychotics.
The first episode of a psychosis is associated with a larger pituitary volume, which we suggest is due to activation of the HPA axis. The smaller pituitary volume in the group with established schizophrenia could be the consequence of repeated episodes of HPA axis hyperactivity.
To examine the relative influence of speed of information processing
versus working memory ability, CFS participants with
psychiatric comorbidity (CFS–Psych) and CFS without a psychiatric
history (CFS–noPsych) were examined on tests of visual and
auditory processing speed and visual and auditory working memory.
Compared to healthy controls (HC) and a group of participants with
rheumatoid arthritis (RA), the CFS–noPsych group displayed
significantly reduced performance on tests of information processing
speed, but not on tests of working memory. No significant differences
were observed between the CFS–Psych group and any other group in
the study. The implications of group heterogeneity on the understanding
of cognitive impairment in CFS are discussed. (JINS, 2004,
This study compares bone mass in a national sample of girls with Rett syndrome (RS) with a sample of control children. The Australian RS Database was the source of cases for this population-based study. Hand radiographs were available from 101 of 137 subjects (74% of the known Australian population of girls with RS aged [les ]20 years). Control radiographs matched for age, sex, and laterality were obtained from hospital radiology departments. A measure of cortical thickness was made from the difference between the outer diameter and the medullary space in the second metacarpal bone. A mean z-score value for cortical thickness and percentage cortical area for each individual was calculated. The mean cortical thickness (z score) for girls with RS was −1.94 compared with −0.38 for control children (P<0.001). In girls with RS, the mean cortical thickness decreased with age (P<0.001). In girls who were taking epilepsy medication it was −2.21 compared with −1.23 in those not taking epilepsy medication (P<0.001). There was no evidence of a beneficial effect of increased calcium intake on cortical thickness. A similar pattern was obtained when percentage cortical area was estimated. In multivariate analysis, increasing age and use of anticonvulsant medication were associated with decreased cortical thickness and only use of anticonvulsant medication with decreased percentage cortical area. Fractures had occurred in one-third of cases and it was estimated that just over 40% of girls would sustain a fracture by the age of 15 years. Girls with RS may be at increased risk of fractures and their bone quality compromised as determined by cortical thickness and percentage cortical area measurements from the second metacarpal.
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