Dysphagia in Intensive Care Evaluation (DICE): An International Cross-Sectional Survey.

Dysphagia occurs commonly in the intensive care unit (ICU). Despite the clinical relevance, there is little worldwide research on prevention, assessment, evaluation, and/or treatment of dysphagia for ICU patients. We aimed to gain insight into this international knowledge gap. We conducted a multi-center, international online cross-sectional survey of adult ICUs. Local survey distribution champions were recruited through professional and personal networks. The survey was administered from November 2017 to June 2019 with three emails and a final telephone reminder. Responses were received from 746 ICUs (26 countries). In patients intubated > 48 h, 17% expected a > 50% chance that dysphagia would develop. This proportion increased to 43% in patients intubated > 7 days, and to 52% in tracheotomized patients. Speech-language pathologist (SLP) consultation was available in 66% of ICUs, only 4% reported a dedicated SLP. Although 66% considered a routine post-extubation dysphagia protocol important, most (67%) did not have a protocol. Few ICUs routinely assessed for dysphagia after 48 h of intubation (30%) or tracheostomy (41%). A large proportion (46%) used water swallow screening tests to determine aspiration, few (8%) used instrumental assessments (i.e., flexible endoscopic evaluation of swallowing). Swallowing exercises were used for dysphagia management by 30% of ICUs. There seems to be limited awareness among ICU practitioners that patients are at risk of dysphagia, particularly as ventilation persists, protocols, routine assessment, and instrumental assessments are generally not used. We recommend the development of a research agenda to increase the quality of evidence and ameliorate the implementation of evidence-based dysphagia protocols by dedicated SLPs

Fertility and population change in the United Kingdom

As in most wealthy countries, the United Kingdom (UK) population is aging and is set to continue to age for the next several decades. Recent and projected rates of change in the share of the elderly population are slow, however, compared to most other European Union (EU)-27 countries. Although since 1998 net migration has played some role, the UK’s relatively benign demographic profile has much to do with its relatively high fertility rates. Population issues, low fertility in particular, are not considered to be a major policy concern or an appropriate target for government intervention. A combination of moderately high fertility and high female employment has (at least historically) been achieved without implementing the kinds of work-family reconciliation policies that are credited with sustaining fertility elsewhere in Europe. A laissez-faire approach to the economy and residual approach to welfare may well have sustained UK fertility levels by facilitating childbearing in more socio-economically disadvantaged families. Recent, path-deviant, work-family reconciliation policies have been adopted, but the wider institutional context has moderated their potential to reduce the costs of childbearing

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic information recorded in DDD to augment diagnosis and disease variant discovery in probands. Median Euclidean distances (mEuD) were employed as a simple measure of similarity of quantitative phenotypic data within sets of ≥10 individuals with plausibly causative de novo mutations (DNM) in 28 different developmental disorder genes. 13/28 (46.4%) showed significant similarity for growth or developmental milestone metrics, 10/28 (35.7%) showed similarity in HPO term usage, and 12/28 (43%) showed no phenotypic similarity. Pairwise comparisons of individuals with high-impact inherited variants to the 32 individuals with causative DNM in ANKRD11 using only growth z-scores highlighted 5 likely causative inherited variants and two unrecognized DNM resulting in an 18% diagnostic uplift for this gene. Using an independent approach, naive Bayes classification of growth and developmental data produced reasonably discriminative models for the 24 DNM genes with sufficiently complete data. An unsupervised naive Bayes classification of 6,993 probands with WES data and sufficient phenotypic information defined 23 in silico syndromes (ISSs) and was used to test a "phenotype first" approach to the discovery of causative genotypes using WES variants strictly filtered on allele frequency, mutation consequence, and evidence of constraint in humans. This highlighted heterozygous de novo nonsynonymous variants in SPTBN2 as causative in three DDD probands

A consensus statement for the management and rehabilitation of communication and swallowing function in the ICU : a global response to COVID-19

Objective To identify core practices for workforce management of communication and swallowing functions in COVID-19 positive patients within the ICU. Design A modified Delphi methodology was utilized, with 3 electronic voting rounds. AGREE II and an adapted COVID-19 survey framework from physiotherapy were used to develop survey statements. Sixty-six statements pertaining to workforce planning and management of communication and swallowing function in the ICU were included. Setting Electronic modified Delphi process. Participants 35 speech-language pathologists (SLPs) from 6 continents representing 12 countries. Interventions Not applicable. Main Outcome Measures The main outcome was consensus agreement, defined a priori as ≥70% of participants with a mean Likert score ≥7.0 (11-point scale: “0” = strongly disagree, “10” strongly agree). Prioritization rank order of statements in a 4th round was also conducted. Results SLPs with a median of 15 years ICU experience, working primarily in clinical (54%), in academic (29%) or managerial (17%) positions, completed all voting rounds. After the third round, 64 statements (97%) met criteria. Rank ordering identified issues of high importance. Conclusions A set of global consensus statements to facilitate planning and delivery of rehabilitative care for patients admitted to the ICU during the COVID-19 pandemic were agreed by an international expert SLP group. Statements focus on considerations for workforce preparation, resourcing and training, and the management of communication and swallowing functions. These statements support and provide direction for all members of the rehabilitation team to use for patients admitted to the ICU during a global pandemic

Leibniz on Intellectual Pleasure, Perception of Perfection, and Power

Leibniz is unclear about the nature of pleasure. In some texts, he describes pleasure as a perception of perfection, while in other texts he describes pleasure as being caused by a perception of perfection. In this article, I disambiguate two senses of “perception of perfection”, which clarifies Leibniz’s considered position. I argue that pleasure is a perception of an increase in a substance’s power which is caused by a substance’s knowledge of a perfection of the universe or God. This reading helps clarify the nature of Leibnizian happiness. Happiness is a cognitive process (akin to a mood), constituted fundamentally out of pleasure, which is grounded in increases in a substance’s power. A rational substance will sustain its happiness so long as it is more powerful than it is weak, and it is engaging in activities that increase its power

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection