Activiteit

The genetics care pathway experienced by families affected by autism spectrum disorder (ASD) around the time of diagnosis is currently uncharacterized and potentially variable across contexts. The lack of consensus on outcome measures to capture the impact of genetic services for these families shows a gap in understanding and optimizing this genetics care pathway. The Genetic Counseling Outcome Scale (GCOS-24) is a validated outcome measure of clinical genetics services. The current study aims to adapt and validate the GCOS-24 as an outcome measure in the context routine genetic testing in ASD and related conditions. Families seen for their child’s developmental evaluation for ASD and related conditions were invited to participate in a genomics cohort between 2016 and 2018. Families (n = 111) completed the mGCOS-24 (modified GCOS-24), adapted from the original GCOS-24 by clinicians working in the target population’s routine care pathway. The mGCOS-24 has acceptable internal consistency (Cronbach’s α = 0.84) and high test-retest reliability (ICC = 0.88). It also inversely correlates with stress as measured by Perceived Stress Scale (PSS-10) and distress, as measured by the Distress Thermometer, rs ≥ 0.39, ps less then 0.001. The mGCOS-24 had adequate readability, as supported by cognitive interviews completed by a sub-sample of five mothers of a child with ASD. Together, our findings show that the mGCOS-24 has good validity for the target population. Preliminary characterization of the genetics care pathway in this population revealed remarkable variability in pre-test counseling and limited post-test counseling. The use of the mGCOS-24 as an outcome measure is useful in filling some of these gaps by offering a way to assess, and in the future, optimize the genetics care pathway for families affected by autism and related neurodevelopmental conditions.

Families impacted by paediatric cancer are met with logistical, financial and psychological impacts, with severe acute respiratory syndrome coronavirus two creating additional barriers and stressors for these families. Connected Health (CH) may facilitate cancer care. The objective of the present study was to systematically review CH for families/informal caregivers affected by paediatric cancer.

Using search terms relating to (1) paediatric cancer, (2) family/caregivers and (3) CH, the databases of PsycINFO, Pubmed, EMBASE and Web of Science were searched. Inclusion criteria included an evaluation of CH technologies for supportive care for families/caregivers affected by paediatric cancer at any stage of treatment or survivorship.

Sixteen studies met inclusion criteria. CH was primarily web-based (n = 6), however smartphone applications (n = 5), telehealth (n = 2) and online groups (n = 3) were utilised. Intervention areas included psycho-social (n = 6), health and information provision (n = 8) and palliative care (n = 2).

While limited studies have evaluated the impact of CH on families living with paediatric cancer, emerging evidence suggests potential benefits. More evidenced-based interventions are required.

While limited studies have evaluated the impact of CH on families living with paediatric cancer, emerging evidence suggests potential benefits. More evidenced-based interventions are required.

To identify novel myofibrillar components of the Drosophila flight muscles, we carried out a proteomic analysis of chemically demembranated flight muscle myofibrils, and characterized the knockdown phenotype of a novel gene identified in the screen, CG1674.

The CG1674 protein has some similarity to vertebrate synaptopodin 2-like, and when expressed as a FLAG-tagged fusion protein, it was localized during development to the Z-disc and cytoplasm. AMG-900 Knockdown of CG1674 expression affected the function of multiple muscle types, and defective flight in adults was accompanied by large actin-rich structures in the flight muscles that resembled overgrown Z-discs. Localization of CG1674 to the Z-disc depended predominantly upon presence of the Z-disc component alpha-actinin, but also depended upon other Z-disc components, including Mask, Zasp52, and Sals. We also observed re-localization of FLAG-CG1674 to the nucleus in Alpha-actinin and sals knockdown animals.

These studies identify and characterize a previously unreported myofibrillar component of Drosophila muscle that is necessary for proper myofibril assembly during development.

These studies identify and characterize a previously unreported myofibrillar component of Drosophila muscle that is necessary for proper myofibril assembly during development.

Organic molecules that interact with the cannabinoid receptors are called cannabinoids, which can be endogenous, natural or synthetic compounds. They possess similar pharmacological properties as produced by the plant, Cannabis sativa L. Before cannabinoids can be analysed, they need to be extracted from the matrices.

To review literature on the methods and protocols for the extraction of naturally occurring cannabinoids.

An extensive literature search was performed incorporating several databases, notably, Web of Knowledge, PubMed and Google Scholar, and other relevant published materials. The keywords used in the search, in various combinations, with cannabinoids and extraction being present in all combinations, were Cannabis, hemp, cannabinoids, Cannabis sativa, marijuana, and extraction.

In addition to classical maceration with organic solvents, e.g. ethanol, pressurised solvent extraction, solvent heat reflux, Soxhlet extraction, supercritical fluid extraction, ultrasound-assisted extraction and hods.The development of new strategies for the preparation of multicomponent supramolecular assemblies is a major challenge on the road to complex functional molecular systems. Here we present the use of a non-porous self-assembled monolayer from uC33 -NDI-uC33 , a naphthalenediimide symmetrically functionalized with unsaturated 33 carbon-atom-chains, to prepare bicomponent supramolecular surface systems with a series of alkoxy-pyrene (PyrOR) derivatives at the liquid/HOPG interface. While previous attempts at directly depositing many of these PyrOR units at the liquid/HOPG interface failed, the multicomponent approach through the uC33 -NDI-uC33 template enabled control over molecular interactions and facilitated adsorption. The PyrOR deposition restructured the initial uC33 -NDI-uC33 monolayer, causing an expansion in two dimensions to accommodate the guests. As far as we know, this represents the first example of a non-porous or non-metal complex-bearing monolayer that allows the stepwise formation of multicomponent supramolecular architectures on surfaces.