Moonbjerrum7515
rgeted local interventions and governmental control of mask quality and price.Standard outcome sets developed by the International Consortium for Health Outcomes Measurement (ICHOM) facilitate value-based health care in healthcare practice and have gained traction from regulators and Health Technology Assessment (HTA) agencies that regularly assess the value of new medicines. We aimed to assess the extent to which the outcomes used by regulators and HTA agencies are patient-relevant, by comparing these to ICHOM standard sets. We conducted a cross-sectional comparative analysis of ICHOM standard sets, and publicly available regulatory and HTA assessment guidelines. We focused on oncology due to many new medicines being developed, which are accompanied by substantial uncertainty regarding the relevance of these treatments for patients. A comparison of regulatory and HTA assessment guidelines, and ICHOM standard sets showed that both ICHOM and regulators stress the importance of disease-specific outcomes. On the other hand, HTA agencies have a stronger focus on generic outcomes in order to allow comparisons across disease areas. Overall, similar outcomes are relevant for market access, reimbursement, and in ICHOM standard sets. However, some differences are apparent, such as the acceptability of intermediate outcomes. These are recommended in ICHOM standard sets, but regulators are more likely to accept intermediate outcomes than HTA agencies. A greater level of alignment in outcomes accepted may enhance the efficiency of regulatory and HTA processes, and increase timely access to new medicines. ICHOM standard sets may help align these outcomes. However, some differences in outcomes used may remain due to the different purposes of regulatory and HTA decision-making.
This case series reports the performance of a next-generation sequencing (NGS) panel of 176 retinal genes (NGS 176) in patients with inherited retinal disease (IRD).
Subjects are patients who underwent genetic testing between 1 August 2016 and 1 January 2018 at Moorfields Eye Hospital, London, UK. Panel-based genetic testing was performed unless a specific gene (e.g., RS1) or small group of genes (e.g., ABCA4, PRPH2) were suspected. If a novel variant was identified, a further comment on their predicted pathogenicity and evolutionary conservation was offered and segregation studies performed. The main outcome measure is the likelihood of obtaining a genetic diagnosis using NGS 176.
488 patients were included. A molecular diagnosis was obtained for 59.4% of patients. Younger patients were more likely to receive a molecular diagnosis; with 92% of children under the age of 6years receiving a conclusive result. There was a change in their initially assigned inheritance pattern in 8.4% of patients following genetic testing. Selected IRD diagnoses (e.g., achromatopsia, congenital stationary night blindness) were associated with high diagnostic yields.
This study confirms that NGS 176 is a useful first-tier genetic test for most IRD patients. Age and initial clinical diagnosis were strongly associated with diagnostic yield.
This study confirms that NGS 176 is a useful first-tier genetic test for most IRD patients. Age and initial clinical diagnosis were strongly associated with diagnostic yield.Difficulties in adaptive functioning are common in autism spectrum disorder (ASD) and contribute to negative outcomes across the lifespan. Research indicates that cognitive ability is related to degree of adaptive functioning impairments, particularly in young children with ASD. However, the extent to which other factors, such as socioeconomic status (SES) and ASD symptom severity, predict impairments in adaptive functioning remains unclear. The goal of this study was to determine the extent to which SES, ASD symptom severity, and cognitive ability contribute to variability in domain-specific and global components of adaptive functioning in preschool-aged children with ASD. Participants were 99 preschool-aged children (2-6 years) with ASD who attended a tertiary diagnostic service. Results demonstrate that cognitive ability accounted for a significant proportion of variance in domain-specific and global components of adaptive functioning, with higher cognitive ability predicting better adaptive functioning. Retter cognitive ability, but not autism symptoms, were associated with better adaptive functioning. This suggests that interventions for young children with autism should take into account cognitive ability to better understand which children are likely to have difficulties with adaptive functioning.Preterm infants with bronchopulmonary dysplasia (BPD), and particularly those who develop the most severe forms of chronic lung disease during the neonatal period, are at high risk for poor developmental outcomes throughout childhood. Infants who require mechanical ventilation at 36 weeks post-menstrual age have significantly increased odds for cerebral palsy, developmental delay at 2 years, and poor academic achievement and low intelligence quotient in adolescence. Over the past several decades, many therapies and care strategies, including steroids, continuous positive airway pressure, surfactant, and other medications have been introduced into clinical practice. These approaches have changed the epidemiology of BPD in very preterm infants. However, BPD remains common and strongly associated with poor development throughout childhood. Only caffeine has been proven to reduce BPD and improve childhood developmental outcomes. In future research, it will be essential to better understand the developmental sequelae of BPD beyond school age and to test interventions to improve developmental trajectories in this population. Proteasomal inhibitors As new management strategies for BPD are developed, it will be essential to rigorously evaluate both short-term and long-term effects before they are introduced into routine neonatal practice.
To report the outcome of treatment of uncomplicated allergic reactions in dogs with diphenhydramine vs diphenhydramine plus glucocorticoid and to determine the incidence rate of uncomplicated allergic reactions DESIGN Retrospective study between January 1, 2012 and August 15, 2018.
Privately owned, 24-hour emergency and specialty referral veterinary hospital.
Eight hundred and eighty cases of dogs treated for uncomplicated allergic reaction with diphenhydramine alone or in combination with a glucocorticoid.
None.
Two hundred ninety-nine dogs were treated with diphenhydramine alone, and 581 were treated with diphenhydramine plus Dex SP. There was no difference between the 2 groups for response to initial therapy, need for additional veterinary intervention after discharge, or persistent signs at follow-up. The cumulative incidence of emergency department presentation for uncomplicated allergic reaction in this hospital was 1.2%.
There was no difference in measured outcomes between dogs treated with diphenhydramine alone vs those treated with a glucocorticoid in addition to diphenhydramine in this population of dogs.