Randomized Clinical Trial of Distraction for Infant Immunization Pain

Distraction has been shown to be an effective technique for managing pain in children; however, few investigations have examined the utility of this technique with infants. The goal of the current study was to investigate the effectiveness of movie distraction in reducing infants’ immunization distress. Participants were 136 infants (range = 1 to 21 months; M = 7.6 months, SD = 5.0 months) and their parents, all of whom were recruited when presenting for routine vaccinations. The parent-child dyads were randomly assigned to either a Distraction or Typical Care control condition. Infant and adult behaviors were assessed using a visual analog scale and a behavioral observation rating scale. Results indicated parents in the Distraction group engaged in higher rates of distraction than those in the Typical Care group, whereas there was no difference in the behavior of nurses in the Distraction and Typical Care groups. In addition, infants in the Distraction group displayed fewer distress behaviors than infants in the Typical Care group both prior to and during recovery from the injection. Findings suggest that a simple and practical distraction intervention can provide some distress relief to infants during routine injections

Constraints and prospects for contraceptive service provision to young people in Uganda: providers' perspectives

<p>Abstract</p> <p>Background</p> <p>Unintended pregnancies lead to unsafe abortions, which are a leading cause of preventable maternal mortality among young women in Uganda. There is a discrepancy between the desire to prevent pregnancy and actual contraceptive use. Health care providers' perspectives on factors influencing contraceptive use and service provision to young people aged 15-24 in two rural districts in Uganda were explored.</p> <p>Methods</p> <p>Semi-structured questionnaires were used for face- to-face interviews with 102 providers of contraceptive service at public, private not-for-profit, and private for-profit health facilities in two rural districts in Uganda. Descriptive and inferential statistics were used in the analysis of data.</p> <p>Results</p> <p>Providers identified service delivery, provider-focused, structural, and client-specific factors that influence contraceptive use among young people. Contraceptive use and provision to young people were constrained by sporadic contraceptive stocks, poor service organization, and the limited number of trained personnel, high costs, and unfriendly service. Most providers were not competent enough to provide long-acting methods. There were significant differences in providers' self-rated competence by facility type; private for-profit providers' competence was limited for most contraceptives. Providers had misconceptions about contraceptives, they had negative attitudes towards the provision of contraceptives to young people, and they imposed non-evidence-based age restrictions and consent requirements. Thus, most providers were not prepared or were hesitant to give young people contraceptives. Short-acting methods were, however, considered acceptable for young married women and those with children.</p> <p>Conclusion</p> <p>Provider, client, and health system factors restricted contraceptive provision and use for young people. Their contraceptive use prospects are dependent on provider behavior and health system improvements.</p

A Deletion in the N-Myc Downstream Regulated Gene 1 (NDRG1) Gene in Greyhounds with Polyneuropathy

The polyneuropathy of juvenile Greyhound show dogs shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth (CMT) disease in humans. The pedigrees containing affected dogs suggest monogenic autosomal recessive inheritance and all affected dogs trace back to a single male. Here, we studied the neuropathology of this disease and identified a candidate causative mutation. Peripheral nerve biopsies from affected dogs were examined using semi-thin histology, nerve fibre teasing and electron microscopy. A severe chronic progressive mixed polyneuropathy was observed. Seven affected and 17 related control dogs were genotyped on the 50k canine SNP chip. This allowed us to localize the causative mutation to a 19.5 Mb interval on chromosome 13 by homozygosity mapping. The NDRG1 gene is located within this interval and NDRG1 mutations have been shown to cause hereditary motor and sensory neuropathy-Lom in humans (CMT4D). Therefore, we considered NDRG1 a positional and functional candidate gene and performed mutation analysis in affected and control Greyhounds. A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs. The deletion causes a frame shift (p.Arg361SerfsX60) which alters several amino acids before a stop codon is encountered. A reduced level of NDRG1 transcript could be detected by RT-PCR. Western blot analysis demonstrated an absence of NDRG1 protein in peripheral nerve biopsy of an affected Greyhound. We thus have identified a candidate causative mutation for polyneuropathy in Greyhounds and identified the first genetically characterized canine CMT model which offers an opportunity to gain further insights into the pathobiology and therapy of human NDRG1 associated CMT disease. Selection against this mutation can now be used to eliminate polyneuropathy from Greyhound show dogs

Setting the record straight: a rebuttal to an erroneous analysis on transgenic insecticidal crops and natural enemies

While we think that environmental risk assessments of transgenic insect-resistant crops are important, we believe the paper by Lövei et al. (2009) advocates inappropriate summarization and statistical methods, a negatively biased and incorrect interpretation of the published data on non-target effects, and fails to place any putative effect into a meaningful ecological context. Such erroneous analyses do not serve the scientific or regulatory communities

Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a sample of ~3 million individuals and identify 3,952 approximately uncorrelated genome-wide-significant single-nucleotide polymorphisms (SNPs). A genome-wide polygenic predictor, or polygenic index (PGI), explains 12-16% of EA variance and contributes to risk prediction for ten diseases. Direct effects (i.e., controlling for parental PGIs) explain roughly half the PGI's magnitude of association with EA and other phenotypes. The correlation between mate-pair PGIs is far too large to be consistent with phenotypic assortment alone, implying additional assortment on PGI-associated factors. In an additional GWAS of dominance deviations from the additive model, we identify no genome-wide-significant SNPs, and a separate X-chromosome additive GWAS identifies 57

Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for Major Depressive Disorder and white matter microstructure in UK Biobank

Background: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement. Stratifying disease risk by genetic variation within the NETRIN1 pathway may provide important routes for identification of disease mechanisms by focusing on a specific process, excluding heterogeneous risk-associated variation in other pathways. Here, we sought to investigate whether major depressive disorder polygenic risk scores derived from the NETRIN1 signaling pathway (NETRIN1-PRSs) and the whole genome, excluding NETRIN1 pathway genes (genomic-PRSs), were associated with white matter microstructure. Methods: We used two diffusion tensor imaging measures, fractional anisotropy (FA) and mean diffusivity (MD), in the most up-to-date UK Biobank neuroimaging data release (FA: n = 6401; MD: n = 6390). Results: We found significantly lower FA in the superior longitudinal fasciculus (β = −.035, p =.029) and significantly higher MD in a global measure of thalamic radiations (β =.029, p =.021), as well as higher MD in the superior (β =.034, p =.039) and inferior (β =.029, p =.043) longitudinal fasciculus and in the anterior (β =.025, p =.046) and superior (β =.027, p =.043) thalamic radiation associated with NETRIN1-PRS. Genomic-PRS was also associated with lower FA and higher MD in several tracts. Conclusions: Our findings indicate that variation in the NETRIN1 signaling pathway may confer risk for major depressive disorder through effects on a number of white matter tracts