Development of the forward parachute reaction and the age of walking in near term infants: a longitudinal observational study

<p>Abstract</p> <p>Background</p> <p>Near term infants are a main part of preterms. They are at higher risk for mortality and morbidity than term infants and could show a quite different development of tone and reflexes from them. The aim of the present study was to describe longitudinally, in a large sample of healthy near term infants, the development of the forward parachute reaction (FPR) and its correlation with the age of acquisition of independent walking.</p> <p>Methods</p> <p>The assessment of FPR (as absent, incomplete or complete) was performed at 3, 6, 9, 12 months of corrected age in 484 infants, with a gestational age between 35.0 and 36.9 weeks. The age of acquisition of independent walking was monitored until its appearance. A correlation analysis was done between the age of walking and the acquisition of a complete or incomplete FPR, using the Spearman Rank correlation. The Mann-Withney U test was used to identify significant gestational age differences for the age of FPR appearance.</p> <p>Results</p> <p>Most of infants had a two-step development pattern. In fact, they showed at first an incomplete and then a complete FPR, which was observed more frequently at 9 months. An incomplete FPR only, without a successive maturation to a complete FPR, was present in the 21% of the whole sample. Infants with a complete FPR walked at a median age of 13 months, whereas those with an incomplete FPR only walked at a median age of 14 months.</p> <p>Conclusion</p> <p>We identified two groups within our sample of near term infants. The first group showed a progressive maturation of FPR, whereas the second one was characterised by the inability to get a complete pattern, within the one year observation's period. Furthermore, we observed a trend toward a delayed acquisition of independent walking in the latter group of infants.</p

Dyadic Profiles of Couples Coping with Body Image Concerns after Breast Cancer: Preliminary Results of a Cluster Analysis.

Breast cancer treatments have multiple adverse effects, including concerns about body appearance and function that are experienced by most patients. Altered body image negatively affects mental health, social, and relationship functioning. While the relationship with a partner is critical for patients’ psychological wellbeing and partners can promote positive body image, limited research has investigated individual and relational factors affecting the experience of both. This cross-sectional study aimed at (1) exploring rates of body image concerns among breast cancer patients, and (2) identifying dyadic profiles among participating dyads. Couples composed by patients who had undergone surgery and their romantic partners (n = 32) were recruited from the Breast Unit of a hospital in northern Italy. Both partners completed measures of personality characteristics (BFQ-2), psychological distress (HADS), coping flexibility (PACT), dyadic coping (DCQ), and closeness (IOS). Body image (BIS) and adjustment to cancer (Mini-MAC) measures were completed by patients only. K-mean cluster analyses identified 2-cluster solution among patients and partners, respectively. “Active patients” (cluster-1) reported low rates of body image concerns (p &lt; 0.001), anxious preoccupation, negative dyadic coping, and self-oriented stress communication (p &lt; 0.05), compared to “worried patients” (cluster-2). “Comfortable partners” (cluster-1) reported lower anxiety and depression (p &lt; 0.001), self-oriented negative dyadic coping and closeness (p &lt; 0.05) than “uncomfortable partners” (cluster-2). Three different dyadic profiles emerged: functional, dysfunctional, and ambivalent. Significant variations (p &lt; 0.05) by anxiety, depression, and delegating dyadic coping existed. Results indicate there are groups of couples at greater risk for impaired psychological distress and body image concerns, which should be addressed in the context of dyadic psychosocial interventions

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P)

BACKGROUND: Gaucher disease is a potentially severe lysosomal storage disorder caused by mutations in the human glucocerebrosidase gene (GBA). We have developed a multiplexed genetic assay for eight diseases prevalent in the Ashkenazi population: Tay-Sachs, Gaucher type I, Niemann-Pick types A and B, mucolipidosis type IV, familial dysautonomia, Canavan, Bloom syndrome, and Fanconi anemia type C. This assay includes an allelic determination for GBA allele c.1448T>C (L444P). The goal of this study was to clinically evaluate this assay. METHODS: Biotinylated, multiplex PCR products were directly hybridized to capture probes immobilized on fluorescently addressed microspheres. After incubation with streptavidin-conjugated fluorophore, the reactions were analyzed by Luminex IS100. Clinical evaluations were conducted using de-identified patient DNA samples. RESULTS: We evaluated a multiplexed suspension array assay that includes wild-type and mutant genetic determinations for Gaucher disease allele c.1448T>C. Two percent of samples reported to be wild-type by conventional methods were observed to be c.1448T>C heterozygous using our assay. Sequence analysis suggested that this phenomenon was due to co-amplification of the functional gene and a paralogous pseudogene (ΨGBA) due to a polymorphism in the primer-binding site of the latter. Primers for the amplification of this allele were then repositioned to span an upstream deletion in the pseudogene, yielding a much longer amplicon. Although it is widely reported that long amplicons negatively impact amplification or detection efficiency in recently adopted multiplex techniques, this assay design functioned properly and resolved the occurrence of false heterozygosity. CONCLUSION: Although previously available sequence information suggested GBA gene/pseudogene discrimination capabilities with a short amplified product, we identified common single-nucleotide polymorphisms in the pseudogene that required amplification of a larger region for effective discrimination

Glycosaminoglycan Binding Facilitates Entry of a Bacterial Pathogen into Central Nervous Systems

Certain microbes invade brain microvascular endothelial cells (BMECs) to breach the blood-brain barrier (BBB) and establish central nervous system (CNS) infection. Here we use the leading meningitis pathogen group B Streptococcus (GBS) together with insect and mammalian infection models to probe a potential role of glycosaminoglycan (GAG) interactions in the pathogenesis of CNS entry. Site-directed mutagenesis of a GAG-binding domain of the surface GBS alpha C protein impeded GBS penetration of the Drosophila BBB in vivo and diminished GBS adherence to and invasion of human BMECs in vitro. Conversely, genetic impairment of GAG expression in flies or mice reduced GBS dissemination into the brain. These complementary approaches identify a role for bacterial-GAG interactions in the pathogenesis of CNS infection. Our results also highlight how the simpler yet genetically conserved Drosophila GAG pathways can provide a model organism to screen candidate molecules that can interrupt pathogen-GAG interactions for future therapeutic applications

Genetic Background and Sex: Impact on Generalizability of Research Findings in Pharmacology Studies

Animal models consisting of inbred laboratory rodent strains have been a powerful tool for decades, helping to unravel the underpinnings of biological problems and employed to evaluate potential therapeutic treatments in drug discovery. While inbred strains demonstrate relatively reliable and predictable responses, using a single inbred strain alone or as a background to a mutation is analogous to running a clinical trial in a single individual and their identical twins. Indeed, complex etiologies drive the most common human diseases, and a single inbred strain that is a surrogate of a single genome, or data generated from a single sex, is not representative of the genetically diverse patient populations. Further, pharmacological and toxicology data generated in otherwise healthy animals may not translate to disease states where physiology, metabolism, and general health are compromised. The purpose of this chapter is to provide guidance for improving generalizability of preclinical studies by providing insight into necessary considerations for introducing systematic variation within the study design, such as genetic diversity, the use of both sexes, and selection of appropriate age and disease model. The outcome of implementing these considerations should be that reproducibility and generalizability of significant results are significantly enhanced leading to improved clinical translation

Observational study on the efficacy of the supplementation with a preparation with several minerals amd vitamins in improving mood and behaviour of healty puerperal women

We investigated whether a formulation containing vitamins and minerals (vit&min) could improve the worsening of mood changes occurring after delivery ("a.d."). The study was performed in 552 healthy non-anaemic puerperal women ("p.w") without risk factors for puerperal depression ("p.d"). They were at their first full-term pregnancy, and spontaneously delivered healthy newborns. The Edinburgh Depression Postnatal scale (EPDS) evaluates the psychological status of "p.w". EPDS was administered the 3rd (visit 1), 15th (visit 2) and 30th (visit 3) day "a.d.". An EPDS >12 indicates a major susceptibility to "p.d". At the same time intervals, haemoglobin, iron and ferritin (haematological parameters) levels were evaluated. After visit 1, the subjects were randomized to vit&min treatment (group A; N.274) or to calcium/vitamin D3 treatment (group B; N.278). In both groups haematological parameters significantly increased without differences between the groups. EPDS score improved in both groups, but in the group A, the EPDS decrease was significantly larger (p<0.05) in comparison to the group B. This effect is mainly evident in subjects with a basal EPDS ≥12. An early examination of psychological condition could select "p.w." with a high susceptibility to neuronal changes occurring postpartum. Vit&min favourably modulates brain functions antagonizing the evolution to "p.d". © 2013 Informa UK Ltd. All rights reserved