Engaging Australian healthcare consumers to determine priorities and consensus for precision medicine approaches to detect non-communicable disease in early life: a modified Delphi study.

Objectives: Research to develop early screening tools to determine an individual's risk of developing adult-onset disease is a growing field. Expectant parents may find themselves with an option in the future to undergo screening to determine not only genetic abnormalities in their child but also their risk of developing adult-onset non-communicable diseases (NCD) such as hypertension, obesity or hypercholesterolaemia. To ensure acceptability and feasibility of new screening tools researchers must work in partnership with healthcare consumers to discern consumers' current understanding and acceptance of these technologies in research and the potential for clinical applications.

Encouraging a Peer in Need: The Impacts of Social Anxiety and Peer Familiarity.

Extant research has produced conflicting findings regarding the link between social fearfulness and prosocial behavior, with some studies reporting negative relations and others reporting null effects. Furthermore, these studies have focused predominantly on toddlerhood, and few have examined prosociality between peers. The present study investigated whether the link between social anxiety and a prosocial behavior (i.

Bacterial Adaptation to Venom in Snakes and Arachnida.

Animal venoms are considered sterile sources of antimicrobial compounds with strong membrane-disrupting activity against multidrug-resistant bacteria. However, venomous bite wound infections are common in developing nations. Investigating the envenomation organ and venom microbiota of five snake and two spider species, we observed venom community structures that depend on the host venomous animal species and evidenced recovery of viable microorganisms from black-necked spitting cobra (Naja nigricollis) and Indian ornamental tarantula (Poecilotheria regalis) venoms.

Public Sentiment and Discourse on Domestic Violence During the COVID-19 Pandemic in Australia: Analysis of Social Media Posts.

Background: Measuring public response during COVID-19 is an important way of ensuring the suitability and effectiveness of epidemic response efforts. An analysis of social media provides an approximation of public sentiment during an emergency like the current pandemic. The measures introduced across the globe to help curtail the spread of the coronavirus have led to the development of a situation labeled as a "perfect storm," triggering a wave of domestic violence.

Generation of propulsive force via vertical undulations in snakes.

Lateral undulation is the most widespread mode of terrestrial vertebrate limbless locomotion, in which posteriorly propagating horizontal waves press against environmental asperities (e.g. grass, rocks) and generate propulsive reaction forces.

Intraskeletal consistency in patterns of vascularity within bat limb bones.

Bats are the only mammals to have achieved powered flight. A key innovation allowing for bats to conquer the skies was a forelimb modified into a flexible wing. The wing bones of bats are exceptionally long and dynamically bend with wingbeats.

The health benefits and cost-effectiveness of complete healthy vending.

Vending machines contribute to growing levels of obesity. They typically contain energy dense, high fat snacks and attempts at persuading consumers to switch to healthier snacks sold within the same machine have had limited success. This study explored the health benefits and cost effectiveness of the complete replacement of regular snacks with healthy items.

Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends Over a Decade.

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling revealed early increases in daily living skills, with decreases at older ages. Behavior problems became less severe over time, with some increases at older ages.

Predicting oligonucleotide therapeutic efficacy at the population level.

Background: DNA-directed RNA interfering (RNAi) mediators that follow the classic Watson-Crick base pairing to bind to their molecular targets and exert their silencing capacities have been identified to be relatively insensitive to single nucleotide polymorphisms (SNPs). The experimental evaluation of a few putative genomic SNPs in a quasi-species population is the only approach scientists have been employing so far for the experimental validation of the efficacy of oligonucleotide drugs on a given population. These studies are inherently constrained by the number of SNPs that can be experimentally supported in the context of an identified molecular target.

A Novel Methodology For Recording Wing Beat Frequencies of Untethered Male and Female .

is a vector of many significant arboviruses worldwide, including dengue, Zika, chikungunya, and yellow fever viruses. With vector control methodology pivoting toward rearing and releasing large numbers of insects for either population suppression or virus-blocking, economical remote (sentinel) surveillance methods for release tracking become increasingly necessary. Recent steps in this direction include advances in optical sensors that identify and classify insects based on their wing beat frequency (WBF).

RACE-SEQ and Population-Wide Polymorphism Susceptibility Testing for Endonucleolytically Active, RNA-Targeting Therapeutics.

High-throughput sequencing of the products of 5' RNA ligase-mediated rapid amplification of cDNA ends (5' RLM-RACE) reactions (RACE-SEQ) enables the mapping and digital enumeration of expected and novel 5' ends in RNA molecules. The resulting data are essential in documenting the mechanism of action and precision of endonucleolytically active, RNA-targeting drugs such as RNase H-active antisense or small interfering RNA. When applied to error-prone replication systems such as RNA viruses or in vitro RNA replicon systems, the method can additionally report the relative susceptibility of known and unknown polymorphisms to a prospective sequence-specific drug, making it a powerful tool in patient selection and stratification as well as resistance prediction.

Quantitative analysis of human endogenous retrovirus-K transcripts in postmortem premotor cortex fails to confirm elevated expression of HERV-K RNA in amyotrophic lateral sclerosis.

Over the past two decades a number of studies have demonstrated activity of the retroviral enzyme reverse transcriptase in the serum of patients with sporadic amyotrophic lateral sclerosis (ALS). Known human exogenous retroviruses such as HIV-1 have been eliminated as possible sources of this activity and investigators have therefore considered the possibility that human endogenous retroviruses (HERVs) might be involved. HERV-K (HML-2) is the most recent retroviral candidate to be proposed following the observation of elevated HERV-K expression in cortical and spinal neurons of ALS patients and the demonstration of HERV-K envelope protein neurotoxicity in vitro and in transgenic mice.

The role of rumination in adjusting to termination of pregnancy for fetal abnormality: Rumination as a predictor and mediator of posttraumatic growth.

Objective: Rumination is important in adjusting to traumatic events. Evidence suggests that deliberate rumination predicts posttraumatic growth (PTG), and mediates the relationship between coping and PTG. This study examined the relationship between rumination and psychological adjustment following pregnancy termination for fetal abnormality (TFA).

Unaffected siblings of adolescents and adults with fragile X syndrome: Effects on maternal well-being.

The present study investigated the effects of children without disabilities on maternal physical and mental health in families with adolescents or adults with fragile X syndrome. Mothers with the premutation ( = 87) reported on behavior problems and functional limitations of their adolescent or adult child with fragile X syndrome and their own physical and mental health. Mothers also provided a blood sample to determine CGG repeat length.

Prevalence of Childhood Permanent Hearing Loss after Early Complex Cardiac Surgery.

Objectives: To estimate the prevalence of childhood permanent hearing loss (PHL) after early cardiac surgery.

Study Design: This prospective observational (1996-2015) study after complex cardiac surgery with cardiopulmonary bypass at ≤6 weeks of life reports audiology follow-up by registered pediatric-experienced audiologists at 6-8 months postsurgery, age 2 years, and as required throughout and thereafter to complete diagnoses. PHL at any frequency (500-4000 Hz) is defined as responses of >25-decibel hearing level in either ear.

Profiles and Correlates of Parent-Child Agreement on Social Anxiety Symptoms in Youth with Autism Spectrum Disorder.

This study characterized patterns and correlates of parent-youth agreement on social anxiety in youth with and without autism spectrum disorder (ASD). Participants (279 verbally-fluent youth aged 8-16 years, N = 144, N = 135) completed the SASC-R. Youth with ASD exhibited higher social anxiety across informants.

Profiling the Mismatch Tolerance of Argonaute 2 through Deep Sequencing of Sliced Polymorphic Viral RNAs.

Low allelic and clonal variability among endogenous RNAi targets has focused mismatch tolerance studies to RNAi-active guide strands. However, the inherent genomic instability of RNA viruses such as hepatitis C virus (HCV) gives rise to quasi-species mutants within discrete clones: this facilitates mismatch tolerance studies from a target perspective. We recently quantified the slicing imprecision of Argonaute 2 using small interfering RNA (siRNA) analogs of the DNA-directed RNAi drug TT-034 and next-generation sequencing of 5' RNA ligase-mediated rapid amplification of cDNA ends (RACE-SEQ).

Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism.

Friendships and social participation are key domains of quality of life for individuals with intellectual disabilities. This study examined the friendships, social and recreational activities, and family social networks of individuals with intellectual disabilities from two distinct diagnostic groups: individuals diagnosed with fragile X syndrome (n = 81) compared with those diagnosed with autistic disorder (n = 226). Within each diagnostic group, individuals in two developmental stages were compared: adolescence and adulthood.

Field-deployable, quantitative, rapid identification of active Ebola virus infection in unprocessed blood.

The West African Ebola virus outbreak underlined the importance of delivering mass diagnostic capability outside the clinical or primary care setting in effectively containing public health emergencies caused by infectious disease. Yet, to date, there is no solution for reliably deploying at the point of need the gold standard diagnostic method, real time quantitative reverse transcription polymerase chain reaction (RT-qPCR), in a laboratory infrastructure-free manner. In this proof of principle work, we demonstrate direct performance of RT-qPCR on fresh blood using far-red fluorophores to resolve fluorogenic signal inhibition and controlled, rapid freeze/thawing to achieve viral genome extraction in a single reaction chamber assay.

Metaperception in Adolescents With and Without Autism Spectrum Disorder.

This study compared how adolescents with and without autism spectrum disorder (ASD) evaluated unfamiliar peers (i.e., perceptions), as well as how adolescents believed they were evaluated by peers (i.

An exploration of common dopaminergic variants and behavior problems in siblings at high risk for autism spectrum disorder.

Younger siblings of children with ASD often exhibit elevated internalizing and externalizing problems. We investigated common dopaminergic variants (DRD4 and DRD2) in relation to behavior problems at 36 months. Genotypes linked to less efficient dopaminergic functioning were associated with higher internalizing problems in high-risk siblings.

The salience of the self: Self-referential processing and internalizing problems in children and adolescents with autism spectrum disorder.

Children and adolescents with autism spectrum disorder (ASD) demonstrate atypical processing of, and memory for, self-referenced information, which may contribute to the heightened rates of co-occurring internalizing problems. We assessed affective and cognitive aspects of self-referential processing in verbally-fluent children with ASD (N = 79), and an age-matched comparison sample (COM, N = 73) of children without an autism diagnosis. We examined group differences in these two aspects of the self-system, and their joint contributions to individual differnces in internalizing problems.

Clinical potential of oligonucleotide-based therapeutics in the respiratory system.

The discovery of an ever-expanding plethora of coding and non-coding RNAs with nodal and causal roles in the regulation of lung physiology and disease is reinvigorating interest in the clinical utility of the oligonucleotide therapeutic class. This is strongly supported through recent advances in nucleic acids chemistry, synthetic oligonucleotide delivery and viral gene therapy that have succeeded in bringing to market at least three nucleic acid-based drugs. As a consequence, multiple new candidates such as RNA interference modulators, antisense, and splice switching compounds are now progressing through clinical evaluation.

Supporting the Spectrum Hypothesis: Self-Reported Temperament in Children and Adolescents with High Functioning Autism.

This study tested the spectrum hypothesis, which posits that children and adolescents with high functioning autism (HFA) differ quantitatively but not qualitatively from typically developing peers on self-reported temperament. Temperament refers to early-appearing, relatively stable behavioral and emotional tendencies, which relate to maladaptive behaviors across clinical populations. Quantitatively, participants with HFA (N = 104, aged 10-16) self-reported less surgency and more negative affect but did not differ from comparison participants (N = 94, aged 10-16) on effortful control or affiliation.