Predictors of quality of life: A quantitative investigation of the stress-coping model in children with asthma

<p>Abstract</p> <p>Background</p> <p>Aim of this study is to further explore predictors of health related quality of life in children with asthma using factors derived from to the extended stress-coping model. While the stress-coping model has often been used as a frame of reference in studying health related quality of life in chronic illness, few have actually tested the model in children with asthma.</p> <p>Method</p> <p>In this survey study data were obtained by means of self-report questionnaires from seventy-eight children with asthma and their parents. Based on data derived from these questionnaires the constructs of the extended stress-coping model were assessed, using regression analysis and path analysis.</p> <p>Results</p> <p>The results of both regression analysis and path analysis reveal tentative support for the proposed relationships between predictors and health related quality of life in the stress-coping model. Moreover, as indicated in the stress-coping model, HRQoL is only directly predicted by coping. Both coping strategies 'emotional reaction' (significantly) and 'avoidance' are directly related to HRQoL.</p> <p>Conclusion</p> <p>In children with asthma, the extended stress-coping model appears to be a useful theoretical framework for understanding the impact of the illness on their quality of life. Consequently, the factors suggested by this model should be taken into account when designing optimal psychosocial-care interventions.</p

Anticipated adaptation or scale recalibration?

Analysis and support of clinical decision makin

Effect of adaptive abilities on utilities, direct or mediated by mental health?

<p>Abstract</p> <p>Background</p> <p>In cost-utility analyses gain in health can be measured using health state utilities. Health state utilities can be elicited from members of the public or from patients. Utilities given by patients tend to be higher than utilities given by members of the public. This difference is often suggested to be explained by adaptation, but this has not yet been investigated in patients. Here, we investigate if, besides health related quality of life (HRQL), persons' ability to adapt can explain health state utilities. Both the direct effect of persons' adaptive abilities on health state utilities and the indirect effect, where HRQL mediates the effect of ability to adapt, are examined.</p> <p>Methods</p> <p>In total 125 patients with Rheumatoid Arthritis were interviewed. Participants gave valuations of their own health on a visual analogue scale (VAS) and time trade-off (TTO). To estimate persons' ability to adapt, patients filled in questionnaires measuring Self-esteem, Mastery, and Optimism. Finally they completed the SF-36 measuring HRQL. Regression analyses were used to investigate the direct and mediated effect of ability to adapt on health state utilities.</p> <p>Results</p> <p>Persons' ability to adapt did not add considerably to the explanation of health state utilities above HRQL. In the TTO no additional variance was explained by adaptive abilities (Δ R²= .00, β = .02), in the VAS a minor proportion of the variance was explained by adaptive abilities (Δ R²= .05, β = .33). The effect of adaptation on health state utilities seems to be mediated by the mental health domain of quality of life.</p> <p>Conclusions</p> <p>Patients with stronger adaptive abilities, based on their optimism, mastery and self-esteem, may more easily enhance their mental health after being diagnosed with a chronic illness, which leads to higher health state utilities.</p

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harboring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20), delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: defective cell membrane expression (1), impaired LGI1-binding (2), and/or impaired interaction with the postsynaptic density protein PSD-95 (3). We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described and many features of this disorder are unknown. We refine the phenotype and report 19 additional individuals harbouring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20). Functional studies in transfected cell lines confirmed the deleteriousness of all identified variants and indicated at least three distinct pathological mechanisms: (i) defective cell membrane expression; (ii) impaired LGI1-binding; and/or (iii) impaired interaction with the postsynaptic density protein PSD-95. We reveal novel clinical and molecular hallmarks of ADAM22 deficiency and provide knowledge that might inform clinical management and early diagnostics. Van der Knoop et al. describe the clinical features of 21 individuals with biallelic pathogenic variants in ADAM22 and confirm the deleteriousness of the variants with functional studies. Clinical hallmarks of this rare disorder comprise progressive encephalopathy and infantile-onset refractory epilepsy.Peer reviewe

Correction to: Putting genome-wide sequencing in neonates into perspective

The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Psychological factors and mental health in persons with SCI: an exploration of change or stability

OBJECTIVES: To examine the course of mental health and psychological factors over time in persons with a recent spinal cord injury and to determine whether change in psychological factors is associated with change in mental health. DESIGN: Prospective cohort study in the Netherlands with 3 measurement time-points. SUBJECTS: A total of 60 persons with recently acquired spinal cord injury. METHODS: Standardized validated measurement instruments were used to assess mental health, self-efficacy, mastery, optimism, illness cognitions, purpose in life, and social compa-rison. Descriptive statistics and multilevel analysis were used. RESULTS: Multilevel regression analyses showed that neither mental health nor psychological factors, except for social comparison-upward identification, showed statistically significant change over time. However, increasing scores for self-efficacy, mastery, acceptance cognitions, and purpose in life were significantly associated with increasing mental health. In contrast, increasing scores for optimism, social comparison, helplessness cognitions, and disease benefits cognitions were not significantly associated with increasing mental health in persons with spinal cord injury. CONCLUSION: Most psychological factors showed stability up to 6 months post-discharge. Purpose in life, acceptance cognitions, self-efficacy, and mastery showed more variability and seem to be most promising as targets for interventions, which may lead to an improvement in mental health in persons with spinal cord injury

A Checklist for explainable AI in the Financial Sector: Whitepaper

This white paper is the result of a research project by Hogeschool Utrecht, Floryn, Researchable, and De Volksbank in the period November 2021-November 2022. The research project was a KIEM project1 granted by the Taskforce for Applied Research SIA. The goal of the research project was to identify the aspects that play a role in the implementation of the explainability of artificial intelligence (AI) systems in the Dutch financial sector. In this white paper, we present a checklist of the aspects that we derived from this research. The checklist contains checkpoints and related questions that need consideration to make explainability-related choices in different stages of the AI lifecycle. The goal of the checklist is to give designers and developers of AI systems a tool to ensure the AI system will give proper and meaningful explanations to each stakeholder