Asynchronous video messaging promotes family involvement and mitigates separation in neonatal care

From BMJ via Jisc Publications RouterVoR closed-deposited 2020-09-16; AM deposited OA 2020-12-01.Objective: To evaluate the parent and staff experience of a secure video messaging service as a component of neonatal care. Design: Multicentre evaluation incorporating quantitative and qualitative items. Setting: Level II and level III UK neonatal units. Population: Families of neonatal inpatients and neonatal staff. Intervention: Use of a secure, cloud-based asynchronous video messaging service to send short messages from neonatal staff to families. Evaluation undertaken July–November 2019. Main outcome measures: Parental experience, including anxiety, involvement in care, relationships between parents and staff, and breastmilk expression. Results: In pre-implementation surveys (n=41), families reported high levels of stress and anxiety and were receptive to use of the service. In post-implementation surveys (n=42), 88% perceived a benefit of the service on their neonatal experience. Families rated a positive impact of the service on anxiety, sleep, family involvement and relationships with staff. Qualitative responses indicated enhanced emotional closeness, increased involvement in care and a positive effect on breastmilk expression. Seventy-seven post-implementation staff surveys were also collected. Staff rated the service as easy to use, with minimal impact on workload. Seventy-one percent (n=55) felt the service had a positive impact on relationships with families. Staff identified the need to manage parental expectations in relation to the number of videos that could be sent. Conclusions: Asynchronous video messaging improves parental experience, emotional closeness to their baby and builds supportive relationships between families and staff. Asynchronous video supports models of family integrated care and can mitigate family separation, which could be particularly relevant during the COVID-19 pandemic.https://doi.org/10.1136/archdischild-2020-319353106pubpub

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated maculopathy, in order to establish a refined prognosis. ABCA4 locus resequencing was followed by the analysis of other inherited retinal disease genes by whole exome sequencing (WES). Minigene assays and cDNA sequencing were used to assess the effect of a novel MFSD8 splice variant. MFSD8 expression was quantified with qPCR and overexpression studies were analyzed by immunoblotting. Transmission electron microscopy (TEM) was performed on a skin biopsy and ophthalmological and neurological re-examinations were conducted. WES revealed two novel MFSD8 variants: c.[590del];[439+3A>C] p.[Gly197Valfs*2];[Ile67Glufs*3]. Characterization of the c.439+3A>C variant via splice assays showed exon-skipping (p.Ile67Glufs*3), while overexpression studies of the corresponding protein indicated expression of a truncated polypeptide. In addition, a significantly reduced MFSD8 RNA expression was noted in patient's lymphocytes. TEM of a skin biopsy revealed typical v-LINCL lipopigment inclusions while neurological imaging of the proband displayed subtle cerebellar atrophy. Functional characterization demonstrated the pathogenicity of two novel MFSD8 variants, found in a child with an initial diagnosis of juvenile isolated maculopathy but likely evolving to v-LINCL with a protracted disease course. Our study allowed a refined neurological prognosis in the proband and expands the natural history of MFSD8-associated disease

The CORDEX.be initiative as a foundation for climate services in Belgium

The CORDEX.be project created the foundations for Belgian climate services by producing high-resolution Belgian climate information that (a) incorporates the expertise of the different Belgian climate modeling groups and that (b) is consistent with the outcomes of the international CORDEX ("COordinated Regional Climate Downscaling Experiment") project. The key practical tasks for the project were the coordination of activities among different Belgian climate groups, fostering the links to specific international initiatives and the creation of a stakeholder dialogue. Scientifically, the CORDEX.be project contributed to the EURO-CORDEX project, created a small ensemble of High-Resolution (H-Res) future projections over Belgium at convection-permitting resolutions and coupled these to seven Local Impact Models. Several impact studies have been carried out. The project also addressed some aspects of climate change uncertainties. The interactions and feedback from the stakeholder dialogue led to different practical applications at the Belgian national level

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Pathogenic variants in the ATP-binding cassette transporter A4 (ABCA4) gene cause a continuum of retinal disease phenotypes, including Stargardt disease. Noncanonical splice site (NCSS) and deep-intronic variants constitute a large fraction of disease-causing alleles, defining the functional consequences of which remains a challenge. We aimed to determine the effect on splicing of nine previously reported or unpublished NCSS variants, one near exon splice variant and nine deep-intronic variants in ABCA4, using in vitro splice assays in human embryonic kidney 293T cells. Reverse transcription-polymerase chain reaction and Sanger sequence analysis revealed splicing defects for 12 out of 19 variants. Four deep-intronic variants create pseudoexons or elongate the upstream exon. Furthermore, eight NCSS variants cause a partial deletion or skipping of one or more exons in messenger RNAs. Among the 12 variants, nine lead to premature stop codons and predicted truncated ABCA4 proteins. At least two deep-intronic variants affect splice enhancer and silencer motifs and, therefore, these conserved sequences should be carefully evaluated when predicting the outcome of NCSS and deep-intronic variants

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes

Mediated Voyeurism and Female Sport Fans

Female fans of professional hockey have an embattled past. While most female hockey spectators are fans of the sport, a notable segment of these female spectators, “puck bunnies”—women who focus on the players and not the sport—draw a disproportionate amount of attention. Limited academic research is available on this category of fan, and most of it focuses on the motivation of women who seek out male hockey players for their own benefit. Yet, the social behavior of these fans, especially as tempered by social media, is of academic significance. For this study, female spectators of professional hockey were observed over a two-month span during the 2013-14 season. One of their primary activities, using smartphones during games, became the focus of this study. The specific aim of this research was to infiltrate and better understand mediated forms of online, premeditated voyeurism and fan-athlete interaction. Data were collected by means of social media observation, athlete/fan interviews, field observations, and confederate infiltration. Preliminary data analysis revealed that mediated voyeurism through the channels of Twitter and Instagram offered female fans accelerated, inconspicuous access to professional hockey athletes. Additional findings pertaining to sexual advances through mediated voyeurism will be presented, and implications for future research drawn

Effect of stress and temperature on dry craze growth kinetics during low-stress creep of polycarbonate - Part 2 Theoretical model

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Effect of stress and temperature on dry craze growth kinetics during low-stress creep of polycarbonate - Part 1 Experimental

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Fractal rheological models and fractional differential equations for viscoelastic behavior

A constitutive equation for viscoelastic behavior containing time derivatives of stress and strain to fractional order is obtained from a fractal rheological model. Equivalence between tree and ladder fractal models at long times is demonstrated. The fractional differential equation is shown to be equivalent to ordinary differential formulations in the case of a simple power-law response; the adequacy of such formulations to describe non-linearity has been demonstrated previously. The model gives a good description of viscoelastic behavior under all stress modes and will be extended in future to include aging effects. © 1994 Steinkopff-Verlag.SCOPUS: ar.jinfo:eu-repo/semantics/publishe