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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Get PDFBryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research
Towards a common definition of surgical prehabilitation: a scoping review of randomised trials.
Get PDFBACKGROUND
There is no universally accepted definition for surgical prehabilitation. The objectives of this scoping review were to (1) identify how surgical prehabilitation is defined across randomised controlled trials and (2) propose a common definition.
METHODS
The final search was conducted in February 2023 using MEDLINE, Embase, PsycINFO, Web of Science, CINAHL, and Cochrane. We included randomised controlled trials (RCTs) of unimodal or multimodal prehabilitation interventions (nutrition, exercise, and psychological support) lasting at least 7 days in adults undergoing elective surgery. Qualitative data were analysed using summative content analysis.
RESULTS
We identified 76 prehabilitation trials of patients undergoing abdominal (n=26, 34%), orthopaedic (n=20, 26%), thoracic (n=14, 18%), cardiac (n=7, 9%), spinal (n=4, 5%), and other (n=5, 7%) surgeries. Surgical prehabilitation was explicitly defined in more than half of these RCTs (n=42, 55%). Our findings consolidated the following definition: 'Prehabilitation is a process from diagnosis to surgery, consisting of one or more preoperative interventions of exercise, nutrition, psychological strategies and respiratory training, that aims to enhance functional capacity and physiological reserve to allow patients to withstand surgical stressors, improve postoperative outcomes, and facilitate recovery.'
CONCLUSIONS
A common definition is the first step towards standardisation, which is needed to guide future high-quality research and advance the field of prehabilitation. The proposed definition should be further evaluated by international stakeholders to ensure that it is comprehensive and globally accepted
Baseline characteristics and outcome of stroke patients after endovascular therapy according to previous symptomatic vascular disease and sex.
Get PDFAim: The aim of this study was to investigate baseline characteristics and outcome of patients after endovascular therapy (EVT) for acute large vessel occlusion (LVO) in relation to their history of symptomatic vascular disease and sex.
Methods: Consecutive EVT-eligible patients with LVO in the anterior circulation admitted to our stroke center between 04/2015 and 04/2020 were included in this observational cohort study. All patients were treated according to a standardized acute ischaemic stroke (AIS) protocol. Baseline characteristics and successful reperfusion, recurrent/progressive in-hospital ischaemic stroke, symptomatic in-hospital intracranial hemorrhage, death at discharge and at 3 months, and functional outcome at 3 months were analyzed according to previous symptomatic vascular disease and sex.
Results: 995 patients with LVO in the anterior circulation (49.4% women, median age 76 years, median admission NIHSS score 14) were included. Patients with multiple vs. no previous vascular events showed higher mortality at discharge (20% vs. 9.3%, age/sex - adjustedOR = 1.43, p = 0.030) and less independency at 3 months (28.8% vs. 48.8%, age/sex - adjustedOR = 0.72, p = 0.020). All patients and men alone with one or multiple vs. patients and men with no previous vascular events showed more recurrent/progressive in-hospital ischaemic strokes (19.9% vs. 6.4% in all patients, age/sex - adjustedOR = 1.76, p = 0.028) (16.7% vs. 5.8% in men, age-adjustedOR = 2.20, p = 0.035). Men vs. women showed more in-hospital symptomatic intracranial hemorrhage among patients with one or multiple vs. no previous vascular events (23.7% vs. 6.6% in men and 15.4% vs. 5.5% in women, OR = 2.32, p = 0.035/age - adjustedOR = 2.36, p = 0.035).
Conclusions: Previous vascular events increased the risk of in-hospital complications and poorer outcome in the analyzed patients with EVT-eligible LVO-AIS. Our findings may support risk assessment in these stroke patients and could contribute to the design of future studies
Acceptance, Satisfaction, and Preference With Telemedicine During the COVID-19 Pandemic in 2021-2022: Survey Among Patients With Chronic Pain.
Get PDFBACKGROUND
The COVID-19 pandemic has forced many health care providers to make changes in their treatment, with telemedicine being expanded on a large scale. An earlier study investigated the acceptance of telephone calls but did not record satisfaction with treatment or patients' preferences. This warranted a follow-up study to investigate acceptance, satisfaction, and preferences regarding telemedicine, comprising of phone consultations, among health care recipients.
OBJECTIVE
The primary aim was to assess the acceptance and satisfaction of telemedicine during the subsequent months of 2021-2022, after the initial wave of the COVID-19 pandemic in Switzerland. Furthermore, we aimed to assess patients' preferences and whether these differed in patients who had already experienced telemedicine in the past, as well as correlations between acceptance and satisfaction, pain intensity, general condition, perception of telemedicine, and catastrophizing. Finally, we aimed to investigate whether more governmental restrictions were correlated with higher acceptance.
METHODS
An anonymous cross-sectional web-based survey was conducted between January 27, 2021, and February 4, 2022, enrolling patients undergoing outpatient pain therapy in a tertiary university clinic. We conducted a descriptive analysis of acceptance and satisfaction with telemedicine and investigated patients' preferences. Further, we conducted a descriptive and correlational analysis of the COVID-19 stringency index. Spearman correlation analysis and a chi-square test for categorical data were used with Cramer V statistic to assess effect sizes.
RESULTS
Our survey was completed by 60 patients. Telemedicine acceptance and satisfaction were high, with an average score of 7.6 (SD 3.3; on an 11-point Numeric Rating Scale from 0=not at all to 10=completely), and 8.8 (SD 1.8), respectively. Respondents generally preferred on-site consultations to telemedicine (n=35, 58% vs n=24, 40%). A subgroup analysis revealed that respondents who already had received phone consultation, showed a higher preference for telemedicine (n/N=21/42, 50% vs n/N=3/18, 17%; χ22 [N=60]=7.5, P=.02, Cramer V=0.354), as well as those who had been treated for more than 3 months (n/N=17/31, 55% vs n/N=7/29, 24%; χ22 [N=60]=6.5, P=.04, Cramer V=0.329). Acceptance of telemedicine showed a moderate positive correlation with satisfaction (rs{58}=0.41, P<.05), but there were no correlations between the COVID-19 stringency index and the other variables.
CONCLUSIONS
Despite high acceptance of and satisfaction with telemedicine, patients preferred on-site consultations. Preference for telemedicine was markedly higher in patients who had already received phone consultations or had been treated for longer than 3 months. This highlights the need to convey knowledge of eHealth services to patients and the value of building meaningful relationships with patients at the beginning of treatment. During the COVID-19 pandemic, the modality of patient care should be discussed individually
Mid-to Late Holocene East Antarctic ice-core tephrochronology: Implications for reconstructing volcanic eruptions and assessing their climatic impacts over the last 5,500 years
Get PDFIce cores are powerful archives for reconstructing volcanism as they contain both soluble (i.e. aerosols) and insoluble (i.e. tephra) products of volcanic eruptions and for more recent periods have high-precision annually resolved chronologies. The identification and geochemical analysis of cryptotephra in these cores can provide their volcanic source and latitude of injection, complementing records of sulphur injections from volcanic eruptions developed using continuous flow ice-core analysis. Here, we aim to improve the volcanic record for the Southern Hemisphere using a sampling strategy for cryptotephra identification based on coeval deposition of sulphate and microparticles in ice cores from the interior of East Antarctica covering the Mid-to Late Holocene. In total, 15 cryptotephras and one visible horizon were identified and geochemically characterised. Through
comparisons to proximal deposits a range of possible sources were isolated for these horizons including the South Sandwich Islands, South Shetland Islands, Victoria Land (Antarctica) and South America. This new tephra framework contributes to the volcanic history of the region by extending the known geographical range of tephra deposition for previously identified events and providing a potential indication of phases of eruptive activity from key sources. Using the tephra-based source attributions and comparison of the timing of the events to a database of sulphur injections from Holocene volcanic eruptions it is possible to refine injection latitudes for some events, which can lead to improved estimates of their radiative forcing potential. The relatively low magnitude of the volcanic stratospheric sulphur injections related to the events in the tephra framework indicates they would have had a limited impact on Southern Hemisphere climate. Further work is required to improve source attributions for some events and/or to determine the magnitude of sulphur injections for individual events during years when coeval eruptions occurred. One limitation of the framework is the dominance of cryptotephra from regional volcanic sources and a lack of tephra from tropical sources, which hampers the refinement of eruption parameters for these large magnitude and often climate-impacting eruptions. This issue could be explored further through increased sampling of these events and/or development of additional analytical techniques for the identification and robust geochemical analysis of glass tephra shards less than 5 μm in diameter. Such investigations could be coupled with model experiments to determine the likelihood that past tropical eruptions deposited glass tephra shards over Antarctica and the potential size range and geographical spread of deposition
The IPCC’s reductive Common Era temperature history
Get PDFCommon Era temperature variability has been a prominent component in Intergovernmental Panel on Climate Change reports over the last several decades and was twice featured in their Summary for Policymakers. A single reconstruction of mean Northern Hemisphere temperature variability was first highlighted in the 2001 Summary for Policymakers, despite other estimates that existed at the time. Subsequent reports assessed many large-scale temperature reconstructions, but the entirety of Common Era temperature history in the most recent Sixth Assessment Report of the Intergovernmental Panel on Climate Change was restricted to a single estimate of mean annual global temperatures. We argue that this focus on a single reconstruction is an insufficient summary of our understanding of temperature variability over the Common Era. We provide a complementary perspective by offering an alternative assessment of the state of our understanding in high-resolution paleoclimatology for the Common Era and call for future reports to present a more accurate and comprehensive assessment of our knowledge about this important period of human and climate history
Self-management eHealth solutions for menopause - a systematic scoping review.
No full textOBJECTIVE
The purpose of this scoping review was to highlight the current scientific evidence on eHealth-based information tools for menopause in terms of quality, requirements and previous intervention outcomes.
METHODS
We systematically searched electronic databases (Embase, CINAHL, Cochrane Library, Global Health Database [Ovid], Web of Science, ClinicalTrials.gov [NLM], LIVIVO Search Portal [ZB MED] and Google Scholar) from 1974 to March 2022 for relevant records.
RESULTS
Our search yielded 1773 records, of which 28 met our inclusion criteria. Thirteen of 28 selected studies were cross-sectional with qualitative content analysis of websites about menopause; 9 studies were cohort studies examining the impact of an eHealth intervention; two studies were randomized controlled trials comparing eHealth tools with conventional ones; and four studies were non-systematic literature reviews.
CONCLUSION
This scoping review highlights the potential of eHealth-based information tools for the management of menopause and shows that most eHealth-based information tools are inadequate in terms of readability and the balanced view on information. Providers of eHealth-based information tools should pay attention to a participatory design, readability, balance of content and the use of multimedia tools for information delivery to improve understanding
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