The direct cost of "Thriasio" school screening program

<p>Abstract</p> <p>Background</p> <p>There is great diversity in the policies for scoliosis screening worldwide. The initial enthusiasm was succeeded by skepticism and the worth of screening programs has been challenged. The criticisms of school screening programs cite mainly the negative psychological impact on children and their families and the increased financial cost of visits and follow-up radiographs. The purpose of this report is to evaluate the direct cost of performing the school screening in a district hospital.</p> <p>Methods</p> <p>A cost analysis was performed for the estimation of the direct cost of the "Thriasio" school-screening program between January 2000 and May 2006. The analysis involved all the 6470 pupils aged 6–18 years old who were screened at schools for spinal deformities during this period. The factors which were taken into consideration in order to calculate the direct cost of the screening program were a) the number of the examiners b) the working hours, c) the examiners' salary, d) the cost of transportation and finally e) the cost of examination per child.</p> <p>Results</p> <p>During the examined period 20 examiners were involved in the program and worked for 1949 working hours. The hourly salary for the trainee doctors was 6.80 euro, for the Health Visitors 6.70 euro and for the Physiotherapists 5.50 euro in current prices. The cost of transportation was 32 euro per year. The direct cost for the examination of each child for the above studied period was calculated to be 2.04 euro.</p> <p>Conclusion</p> <p>The cost of our school-screening program is low. The present study provides a strong evidence for the continuation of the program when looking from a financial point of view.</p

SPEM dysfunction and general schizotypy as measured by the SSQ: a controlled study

Abstract Background SPEM dysfunction is a well-known phenomenon in schizophrenia. The principal aim of the present study was to examine whether SPEM dysfunction is already observable in subjects scoring high on a specific measure of schizotypy (SSQ General Schizotypy) that was selected because of its intimate relationship with schizophrenic prodromal unfolding. Methods Applying ANOVAs, we determined the relationship of subjects' scores on SSQ General Schizotypy and eye movements elicited by targets of different speed. We also examined whether there exists an association between our schizotypy measure and pupil size. Results We found more SPEM dysfunction in subjects scoring high on SSQ General Schizotypy than in subjects scoring average on that factor, irrespective of the speed of the target. No relationship was found between baseline pupil size and General Schizotypy. Conclusion The present study provides additional evidence that SPEM dysfunction is associated with schizotypic features that precede the onset of schizophrenia and is already observable in general population subjects that show these features

Study of trunk asymmetry in normal children and adolescents

The scoliometer readings in both standing and sitting position of 2071 children and adolescents (1099 boys and 972 girls) aged from 5 to 18 years old were studied. The angle of trunk rotation (ATR) was measured, in order to quantify the existing trunk asymmetry. Children and adolescents were divided in two groups according to the severity of trunk asymmetry. In the first group asymmetry was 1 to 6 degrees and in the second group was 7 or more degrees. Radiographic and leg length inequality evaluation were also performed in a number of children. The mean frequency of symmetric (ATR = 0 degrees) boys and girls was 67.06% and 65.01% for the standing screening position and 76.5% and 75.1% for the sitting position, respectively. The mean difference of frequency of asymmetry (ATR > 0 degrees) at standing minus sitting forward bending position for boys and girls was 10.22% and 9.37%, respectively. The mean frequency of asymmetry of 7 or more degrees was 3.23% for boys and 3.92% for girls at the standing forward bending position and 1.62% and 2.21% at the sitting, respectively. Girls are found to express higher frequency of asymmetry than boys. Right trunk asymmetry was more common than left. The sitting position is the preferred screening position for examining the rib or loin hump during school screening as it demonstrates the best correlation with the spinal deformity exposing the real trunk asymmetry

Schizophrenia-associated HapICE haplotype is associated with increased NRG1 type III expression and high nucleotide diversity

Excitement and controversy have followed neuregulin (NRG1) since its discovery as a putative schizophrenia susceptibility gene; however, the mechanism of action of the associated risk haplotype (HapICE) has not been identified, and specific genetic variations, which may increase risk to schizophrenia have remained elusive. Using a postmortem brain cohort from 37 schizophrenia cases and 37 controls, we resequenced upstream of the type I–IV promoters, and the HapICE repeat regions in intron 1. Relative abundance of seven NRG1 mRNA transcripts in the prefrontal cortex were determined and compared across diagnostic and genotypic groups. We identified 26 novel DNA variants and showed an increased novel variant load in cases compared with controls (χ2=7.815; P=0.05). The average nucleotide diversity (θ=10.0 × 10−4) was approximately twofold higher than that previously reported for BDNF, indicating that NRG1 may be particularly prone to genetic change. A greater nucleotide diversity was observed in the HapICE linkage disequilibrium block in schizophrenia cases (θ(case)=13.2 × 10−4; θ(control)=10.0 × 10−4). The specific HapICE risk haplotype was associated with increased type III mRNA (F=3.76, P=0.028), which in turn, was correlated with an earlier age of onset (r=−0.343, P=0.038). We found a novel intronic five-SNP haplotype ∼730 kb upstream of the type I promoter and determined that this region functions as transcriptional enhancer that is suppressed by SRY. We propose that the HapICE risk haplotype increases expression of the most brain-abundant form of NRG1, which in turn, elicits an earlier clinical presentation, thus providing a novel mechanism through which this genetic association may increase risk of schizophrenia

SOSORT consensus paper: school screening for scoliosis. Where are we today?

This report is the SOSORT Consensus Paper on School Screening for Scoliosis discussed at the 4th International Conference on Conservative Management of Spinal Deformities, presented by SOSORT, on May 2007. The objectives were numerous, 1) the inclusion of the existing information on the issue, 2) the analysis and discussion of the responses by the meeting attendees to the twenty six questions of the questionnaire, 3) the impact of screening on frequency of surgical treatment and of its discontinuation, 4) the reasons why these programs must be continued, 5) the evolving aim of School Screening for Scoliosis and 6) recommendations for improvement of the procedure

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function : a report from the COGENT consortium

CORRIGENDUM Molecular Psychiatry (2017) 22, 1651–1652 http://www.nature.com/articles/mp2017197.pdfThe complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (similar to 8M single-nucleotide polymorphisms (SNP) with minor allele frequency >= 1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (PPeer reviewe

Pleiotropic meta-analysis of cognition, education, and schizophrenia differentiates roles of early neurodevelopmental and adult synaptic pathways

Susceptibility to schizophrenia is inversely correlated with general cognitive ability at both the phenotypic and the genetic level. Paradoxically, a modest but consistent positive genetic correlation has been reported between schizophrenia and educational attainment, despite the strong positive genetic correlation between cognitive ability and educational attainment. Here we leverage published genome-wide association studies (GWASs) in cognitive ability, education, and schizophrenia to parse biological mechanisms underlying these results. Association analysis based on subsets (ASSET), a pleiotropic meta-analytic technique, allowed jointly associated loci to be identified and characterized. Specifically, we identified subsets of variants associated in the expected (“concordant”) direction across all three phenotypes (i.e., greater risk for schizophrenia, lower cognitive ability, and lower educational attainment); these were contrasted with variants that demonstrated the counterintuitive (“discordant”) relationship between education and schizophrenia (i.e., greater risk for schizophrenia and higher educational attainment). ASSET analysis revealed 235 independent loci associated with cognitive ability, education, and/or schizophrenia at p < 5 × 10−8. Pleiotropic analysis successfully identified more than 100 loci that were not significant in the input GWASs. Many of these have been validated by larger, more recent single-phenotype GWASs. Leveraging the joint genetic correlations of cognitive ability, education, and schizophrenia, we were able to dissociate two distinct biological mechanisms—early neurodevelopmental pathways that characterize concordant allelic variation and adulthood synaptic pruning pathways—that were linked to the paradoxical positive genetic association between education and schizophrenia. Furthermore, genetic correlation analyses revealed that these mechanisms contribute not only to the etiopathogenesis of schizophrenia but also to the broader biological dimensions implicated in both general health outcomes and psychiatric illness

Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics

Broad-based cognitive deficits are an enduring and disabling symptom for many patients with severe mental illness, and these impairments are inadequately addressed by current medications. While novel drug targets for schizophrenia and depression have emerged from recent large-scale genome-wide association studies (GWAS) of these psychiatric disorders, GWAS of general cognitive ability can suggest potential targets for nootropic drug repurposing. Here, we (1) meta-analyze results from two recent cognitive GWAS to further enhance power for locus discovery; (2) employ several complementary transcriptomic methods to identify genes in these loci that are credibly associated with cognition; and (3) further annotate the resulting genes using multiple chemoinformatic databases to identify "druggable" targets. Using our meta-analytic data set (N = 373,617), we identified 241 independent cognition-associated loci (29 novel), and 76 genes were identified by 2 or more methods of gene identification. Actin and chromatin binding gene sets were identified as novel pathways that could be targeted via drug repurposing. Leveraging our transcriptomic and chemoinformatic databases, we identified 16 putative genes targeted by existing drugs potentially available for cognitive repurposing.Peer reviewe

Correlations between psychometric schizotypy, scan path length, fixations on the eyes and face recognition.

Psychometric schizotypy in the general population correlates negatively with face recognition accuracy, potentially due to deficits in inhibition, social withdrawal, or eye-movement abnormalities. We report an eye-tracking face recognition study in which participants were required to match one of two faces (target and distractor) to a cue face presented immediately before. All faces could be presented with or without paraphernalia (e.g., hats, glasses, facial hair). Results showed that paraphernalia distracted participants, and that the most distracting condition was when the cue and the distractor face had paraphernalia but the target face did not, while there was no correlation between distractibility and participants' scores on the Schizotypal Personality Questionnaire (SPQ). Schizotypy was negatively correlated with proportion of time fixating on the eyes and positively correlated with not fixating on a feature. It was negatively correlated with scan path length and this variable correlated with face recognition accuracy. These results are interpreted as schizotypal traits being associated with a restricted scan path leading to face recognition deficits