Significant progress has been made in the development of autonomous vehicles (AV) in recent years, with an increasing number of trials performed to identify how AVs might function within the existing ...transport modal choices. With this has come increasing recognition of the multiple benefits that AVs might provide for wider society, not least reduced road congestion and pollution, safer travel, and increased fuel efficiency. Removing the need for a dedicated driver means that costs to use AVs services will be lower; in the case of private AV ownership, the requirement for a driving licence is removed. These attributes are highly advantageous for all passengers, but especially for the disabled community, and in the case of the current project, those with visual impairment. The use of AVs may have significant implications for the independence of this group, impacting on feelings of social and psychological well-being.
In the current study, 419 people, both VI and sighted, took part in an AV trial (‘Arthur’). Participants' faces (inclusive of guide dogs) were recorded throughout the journey and all participants responded to a questionnaire about their experience during this journey. Recordings were analysed using FACS (Facial Actions Coding System).
Results from the questionnaire indicated an overall positive experience for participants, and reduced anxiety from the time prior to the journey to the end of the journey. FACS analysis showed happiness as the predominant emotion expressed by passengers; a smaller number expressed surprise or fear, these were mainly identified early during the journey or as the result of an emergency stop.
The results from both data sets demonstrate that for a sighted or VI individual, travel in an AV is largely a positive experience and individuals who have a VI would benefit from AV services in the future.
•First exploration of AVs with VI passengers.•Use of FACS (Facial Actions Coding System) and survey data for the exploration of User Experiences.•Positive User Experiences reported, technical and practical challenges identified.
There has been growing recognition of the impact of COVID-19 and the restrictions implemented to contain the virus on mental health. This study provides a preliminary assessment of the longitudinal ...impact on state anxiety in individuals with disabilities and a subsample of individuals with visual impairment (VI). Two surveys were conducted in April–May 2020 (T1) and March 2021 (T2) to explore state anxiety (State-Trait Anxiety Inventory). Participants who consented to being re-contacted were invited to take part in T2. A total of 160 participants completed T1 and T2. There were no significant group differences in median anxiety at T1; however, at T2 anxiety was significantly higher in those with disabilities and there was a trend towards being higher in participants with VI compared to those with no disabilities. While not statistically significant within any of the three subgroups, state anxiety decreased slightly in those with no disabilities. The absence of a disability affecting mobility, experiencing loneliness, and poorer sleep quality predicted state anxiety at both timepoints. While anxiety appeared to decrease in individuals with no disabilities, it remained comparatively stable, and higher in those with disabilities. Loneliness and poor sleep may need to be addressed to alleviate feelings of anxiety.
To characterize the phenotype observed in a case series with macular disease and determine the cause.
Multicenter case series.
Six families (7 patients) with sporadic or multiplex macular disease ...with onset at 20 to 78 years, and 1 patient with age-related macular degeneration.
Patients underwent ophthalmic examination; exome, genome, or targeted sequencing; and/or polymerase chain reaction (PCR) amplification of the breakpoint, followed by cloning and Sanger sequencing or direct Sanger sequencing.
Clinical phenotypes, genomic findings, and a hypothesis explaining the mechanism underlying disease in these patients.
All 8 cases carried the same deletion encompassing the genes TPRX1, CRX, and SULT2A1, which was absent from 382 control individuals screened by breakpoint PCR and 13 096 Clinical Genetics patients with a range of other inherited conditions screened by array comparative genomic hybridization. Microsatellite genotypes showed that these 7 families are not closely related, but genotypes immediately adjacent to the deletion breakpoints suggest they may share a distant common ancestor.
Previous studies had found that carriers for a single defective CRX allele that was predicted to produce no functional CRX protein had a normal ocular phenotype. Here, we show that CRX whole-gene deletion in fact does cause a dominant late-onset macular disease.
The COVID-19 pandemic has resulted in delays in presentation for other urgent medical conditions, including pediatric appendicitis. Several single-center studies have reported worse outcomes, but no ...state-level data is available. We aimed to determine the statewide effect of the COVID-19 pandemic on the presentation and management of pediatric appendicitis patients.
Patients < 18 years old with acute appendicitis at four tertiary pediatric hospitals in California between March 19, 2020 to September 19, 2020 (COVID-era) were compared to a pre-COVID cohort (March 19, 2019 to September 19, 2019). The primary outcome was the rate of perforated appendicitis. Secondary outcomes were symptom duration prior to presentation, and rates of non-operative management.
Rates of perforated appendicitis were unchanged (40.4% of 592 patients pre-COVID versus 42.1% of 606 patients COVID-era, P = 0.17). The median symptom duration was 2 days in both cohorts (P = 0.90). Computed tomography (CT) use rose from 39.8% pre-COVID to 49.4% during COVID (P = 0.002). Non-operative management increased during the pandemic (8.8% pre-COVID versus 16.2% COVID-era, P < 0.0001). Hospital length of stay (LOS) was longer (2 days pre-COVID versus 3 days during COVID, P < 0.0001).
Pediatric perforated appendicitis rates did not rise during the first six months of the COVID-19 pandemic in California in this multicenter study, and there were no delays in presentation noted. There was a higher rate of CT scans, non-operative management, and longer hospital lengths of stay.
This study was an investigation of 79 patients referred to the Wessex Regional Genetics Laboratory with suspected Russell-Silver Syndrome or unexplained short stature/intra uterine growth ...restriction, warranting genetic investigation. Methylation status was analysed at target sequences within eleven imprinted loci (PLAGL1, IGF2R, PEG10, MEST1, GRB10, KCNQ1OT1, H19, IGF2P0, DLK1, PEG3, NESPAS). Thirty seven percent (37%) (29 of 79) of samples were shown to have a methylation abnormality. The commonest finding was a loss of methylation at H19 (23 of 29), as previously reported in Russell-Silver Syndrome. In addition, four of these patients had methylation anomalies at other loci, of whom two showed hypomethylation of multiple imprinted loci, and two showed a complete gain of methylation at IGF2R. This latter finding was also present in five other patients who did not have demonstrable changes at H19. In total, 7 of 79 patients showed a gain of methylation at IGF2R and this was significantly different from a normal control population of 267 individuals (P=0.002). This study in patients with growth restriction shows the importance of widening the epigenetic investigation to include multiple imprinted loci and highlights potential involvement of the IGF2R locus.
The clinical application of the arts among military personnel and veterans has been well documented, particularly in relation to service-related mental health difficulties. However, the impacts of ...engaging recreationally with art activities on general well-being remain underexplored and even more so among those living with visual impairment (VI). This pilot explored the artistic experiences of veterans with VI participating in a remotely delivered art and craft project during continued COVID-19 restrictions in Spring/Summer 2021.
Six participants received a
(
) containing a selection of materials, collated to encourage experimentation with unfamiliar techniques. Participants were asked to journal their process as they developed a final piece/pieces. They were invited to join group video calls to share work and ideas and seek guidance. Semistructured interviews were run with participants at the end of the project. Journal and interview data were thematically analysed.
Analysis identified 11 themes relating to initial and ongoing responses to the
and creative and journalling process. Several benefits were identified, including artistic learning, trying something new, and social, cognitive and emotional experiences. The value of the activity to participants' lives within the context of the ongoing pandemic was also considered. Challenges were associated with the use of unfamiliar materials, impacts of sight loss and the limitations of remote delivery.
This pilot brings to the fore the everyday artistic experience of veterans living with VI and considers the benefits, challenges and well-being implications of a remotely delivered arts activity. Findings illustrate the importance of ensuring accessibility of artistic activities to those for whom disability might limit participation and highlight the ongoing role that remotely delivered arts activities might play in meeting the social and recreational needs of individuals beyond the COVID-19 pandemic.
Background
Acute thrombotic thrombocytopenic purpura (TTP) is a life‐threatening emergency and plasma exchange (PEX) is the initial treatment shown to reduce acute mortality.
Objectives
To compare ...current practice in the United Kingdom (UK) against the standards set out in the 2012 British Society of Haematology guideline, and to better understand the issues affecting prompt initiation of PEX.
Patients/Methods
The trainee research network HaemSTAR conducted a retrospective nationwide review of adults presenting to UK hospitals with a first episode of acute TTP.
Results
Data on 148 patients treated at 80 UK hospitals between 2014 and 2019 demonstrated that 64.8% of patients received PEX within 24 h. Diagnostic uncertainty was the most commonly cited reason for delayed treatment. Conversely, a shorter time to PEX occurred in patients who had red cell fragments or severe thrombocytopenia identified on their first complete blood count. Availability of on‐site PEX was associated with a greater proportion of patients receiving PEX within 8 h compared to patients transferred, but by 24 h there was no difference between the two groups and two‐thirds of all patients had received their first PEX. The mortality rate for patients that received PEX was 9.2%, with 27.8% of deaths linked to delayed treatment initiation.
Conclusions
This is the first multi‐center evaluation of treatment delays in acute TTP and it will inform targeted pathways to improve prompt access to life‐saving intervention.
Memory problems are among the most common complaints as people grow older. Using structural equation modeling of commensurate scores of anterograde memory from a large (N = 315), population-derived ...sample (www.cam-can.org), we provide evidence for three memory factors that are supported by distinct brain regions and show differential sensitivity to age. Associative memory and item memory are dramatically affected by age, even after adjusting for education level and fluid intelligence, whereas visual priming is not. Associative memory and item memory are differentially affected by emotional valence, and the age-related decline in associative memory is faster for negative than for positive or neutral stimuli. Gray-matter volume in the hippocampus, parahippocampus and fusiform cortex, and a white-matter index for the fornix, uncinate fasciculus and inferior longitudinal fasciculus, show differential contributions to the three memory factors. Together, these data demonstrate the extent to which differential ageing of the brain leads to differential patterns of memory loss.
Hormonal changes during the menstrual cycle play a key role in shaping immunity in the cervicovaginal tract. Cervicovaginal fluid contains cytokines, chemokines, immunoglobulins, and other immune ...mediators. Many studies have shown that the concentrations of these immune mediators change throughout the menstrual cycle, but the studies have often shown inconsistent results. Our understanding of immunological correlates of the menstrual cycle remains limited and could be improved by meta-analysis of the available evidence.
We performed a systematic review and meta-analysis of cervicovaginal immune mediator concentrations throughout the menstrual cycle using individual participant data. Study eligibility included strict definitions of the cycle phase (by progesterone or days since the last menstrual period) and no use of hormonal contraception or intrauterine devices. We performed random-effects meta-analyses using inverse-variance pooling to estimate concentration differences between the follicular and luteal phases. In addition, we performed a new laboratory study, measuring select immune mediators in cervicovaginal lavage samples.
We screened 1570 abstracts and identified 71 eligible studies. We analyzed data from 31 studies, encompassing 39,589 concentration measurements of 77 immune mediators made on 2112 samples from 871 participants. Meta-analyses were performed on 53 immune mediators. Antibodies, CC-type chemokines, MMPs, IL-6, IL-16, IL-1RA, G-CSF, GNLY, and ICAM1 were lower in the luteal phase than the follicular phase. Only IL-1α, HBD-2, and HBD-3 were elevated in the luteal phase. There was minimal change between the phases for CXCL8, 9, and 10, interferons, TNF, SLPI, elafin, lysozyme, lactoferrin, and interleukins 1β, 2, 10, 12, 13, and 17A. The GRADE strength of evidence was moderate to high for all immune mediators listed here.
Despite the variability of cervicovaginal immune mediator measurements, our meta-analyses show clear and consistent changes during the menstrual cycle. Many immune mediators were lower in the luteal phase, including chemokines, antibodies, matrix metalloproteinases, and several interleukins. Only interleukin-1α and beta-defensins were higher in the luteal phase. These cyclical differences may have consequences for immunity, susceptibility to infection, and fertility. Our study emphasizes the need to control for the effect of the menstrual cycle on immune mediators in future studies.
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