The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from

Prevalence of Frailty in European Emergency Departments (FEED): an international flash mob study

Introduction Current emergency care systems are not optimized to respond to multiple and complex problems associated with frailty. Services may require reconfiguration to effectively deliver comprehensive frailty care, yet its prevalence and variation are poorly understood. This study primarily determined the prevalence of frailty among older people attending emergency care. Methods This cross-sectional study used a flash mob approach to collect observational European emergency care data over a 24-h period (04 July 2023). Sites were identified through the European Task Force for Geriatric Emergency Medicine collaboration and social media. Data were collected for all individuals aged 65 + who attended emergency care, and for all adults aged 18 + at a subset of sites. Variables included demographics, Clinical Frailty Scale (CFS), vital signs, and disposition. European and national frailty prevalence was determined with proportions with each CFS level and with dichotomized CFS 5 + (mild or more severe frailty). Results Sixty-two sites in fourteen European countries recruited five thousand seven hundred eighty-five individuals. 40% of 3479 older people had at least mild frailty, with countries ranging from 26 to 51%. They had median age 77 (IQR, 13) years and 53% were female. Across 22 sites observing all adult attenders, older people living with frailty comprised 14%. Conclusion 40% of older people using European emergency care had CFS 5 + . Frailty prevalence varied widely among European care systems. These differences likely reflected entrance selection and provide windows of opportunity for system configuration and workforce planning

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

Two-stepping into the icehouse: East Antarctic weathering during progressive ice-sheet expansion at the Eocene-Oligocene transition

In conjunction with increasing benthic foraminiferal ?18O values at the Eocene–Oligocene transition (EOT; ca. 34 Ma), coarse-grained ice-rafted debris (IRD; >425 ?m) appears abruptly alongside fossil fish teeth with continentally derived neodymium (Nd) isotope ratios (?Nd) in Kerguelen Plateau (Southern Ocean) sediments. Increased Antarctic weathering flux, as inferred from two steps to less radiogenic ?Nd values, coincides with two steps in benthic foraminiferal ?18O values. These results indicate that two distinct surges of weathering were generated by East Antarctic ice growth during the EOT. Weathering by ice sheets during a precursor glaciation at 33.9 Ma did not produce significant IRD accumulation during the first ?Nd shift. Glacial weathering was sustained during a terrace interval between the two steps, probably by small high-elevation ice sheets. A large increase in weathering signals the rapid coalescence of small ice sheets into an ice sheet of continental proportions ca. 33.7 Ma. Rapid ice sheet expansion resulted in a suppression of weathering due to less exposed area and colder conditions. Parallel changes in Antarctic weathering flux and deep-sea carbonate accumulation suggest that ice-sheet expansion during the EOT had a direct impact on the global carbon cycle; possible mechanisms include associated changes in silicate weathering on the East Antarctic craton and enhanced fertilization of Southern Ocean waters, both of which warrant further investigation

Introduction of the use of software for the detection of plagiarism

10.1016/j.fct.2012.04.03

Designing the interface to encourage more cognitive processing

Cognitive engineering aims to provide operators with immediate access to as much relevant information as possible. However, this can encourage display-based strategies that do not involve committing information to memory. To overcome this problem, a somewhat counterintuitive method is discussed, based upon the theory of soft constraints [1], that involves delaying access to some critical information by one or two seconds. This design technique induces a more planful and memory-based strategy that can improve recall, develop more planning behavior, improve problem solving, and protect against the negative effects of interruption. Furthermore, we provide some preliminary results that this more memory-intensive strategy can be trained through past experience with high access cost and then used in situations where access cost is minimal. This was the case when only half of the training trials involved a higher access cost. Further research is needed to ascertain how long training effects last and what are the ideal training regimes for different types of task