Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.

Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18±6 versus 28±17 years; P<0.003). Heart failure was the leading cause of death (10 of 17; 59%), and LV systolic dysfunction predicted an adverse outcome. Eight men and 8 women (28%) underwent heart transplantation or received an LV assist device. Our cohort suggests better prognosis of female compared with male heart transplant recipients. Conclusions: Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications. Cardiomyopathy features, heart failure and arrhythmia, are similar among the sexes. Clinical diagnosis and management is extremely challenging in women due to phenotypic diversity and the absence of extracardiac manifestations.pre-print507 K

Drinking patterns and the distribution of alcohol-related harms in Ireland: evidence for the prevention paradox.

Background: According to the prevention paradox, the majority of alcohol-related harms in the population occur among low-to-moderate risk drinkers, simply because they are more numerous in the population, although high-risk drinkers have a higher individual risk of experiencing alcohol-related harms. In this study we explored the prevention paradox in the Irish population by comparing alcohol-dependent drinkers (high-risk) to low-risk drinkers and non-dependent drinkers who engage in heavy episodic drinking (HED). Methods: Data were generated from the 2013 National Alcohol Diary Survey (NADS), a nationally representative cross-sectional survey of Irish adults aged 18–75. Data were available for 4338 drinkers. Respondents dependent on alcohol (as measured by DSM-IV criteria), respondents who engaged in monthly HED or occasional HED (1–11 times a year) and low-risk drinkers were compared for distribution of eight alcohol-related harms. Results: Respondents who were dependent on alcohol had a greater individual risk of experiencing each harm (p < .0001). The majority of the harms in the population were accounted for by drinkers who were not dependent on alcohol. Together, monthly and occasional HED drinkers accounted for 62% of all drinkers, consumed 70% of alcohol and accounted for 59% of alcohol-related harms. Conclusions: Our results indicate that the majority of alcohol consumption and related harms in the Irish population are accounted for by low- and moderate-risk drinkers, and specifically by those who engage in heavy episodic drinking. A population-based approach to reducing alcohol-related harm is most appropriate in the Irish context. Immediate implementation of the measures in the Public Health (Alcohol) Act (2018) is necessary to reduce alcohol-related harm in Ireland

Rapid implementation of virtual clinics due to COVID-19: report and early evaluation of a quality improvement initiative

Background The COVID-19 outbreak has placed the National Health Service under significant strain. Social distancing measures were introduced in the UK in March 2020 and virtual consultations (via telephone or video call) were identified as a potential alternative to face-to-face consultations at this time.Local problem The Royal National Orthopaedic Hospital (RNOH) sees on average 11 200 face-to-face consultations a month. On average 7% of these are delivered virtually via telephone. In response to the COVID-19 crisis, the RNOH set a target of reducing face-to-face consultations to 20% of all outpatient attendances. This report outlines a quality improvement initiative to rapidly implement virtual consultations at the RNOH.Methods The COVID-19 Action Team, a multidisciplinary group of healthcare professionals, was assembled to support the implementation of virtual clinics. The Institute for Healthcare Improvement approach to quality improvement was followed using the Plan-Do-Study-Act (PDSA) cycle. A process of enablement, process redesign, delivery support and evaluation were carried out, underpinned by Improvement principles.Results Following the target of 80% virtual consultations being set, 87% of consultations were delivered virtually during the first 6 weeks. Satisfaction scores were high for virtual consultations (90/100 for patients and 78/100 for clinicians); however, outside of the COVID-19 pandemic, video consultations would be preferred less than 50% of the time. Information to support the future redesign of outpatient services was collected.Conclusions This report demonstrates that virtual consultations can be rapidly implemented in response to COVID-19 and that they are largely acceptable. Further initiatives are required to support clinically appropriate and acceptable virtual consultations beyond COVID-19.Registration This project was submitted to the RNOH’s Project Evaluation Panel and was classified as a service evaluation on 12 March 2020 (ref: SE20.09)

State of Climate Action 2021: Systems Transformations Required to Limit Global Warming to 1.5°C

Limiting global warming to 1.5°C requires far-reaching transformations across power generation, buildings, industry, transport, land use, coastal zone management, and agriculture, as well as the immediate scale-up of technological carbon removal and climate finance. This report translates these transitions into 40 targets for 2030 and 2050, with measurable indicators.Transformations, particularly those driven by new technology adoption, often unfold slowly before accelerating after crossing a tipping point. Nearly a quarter of indicators assessed new technology adoption, with some already growing exponentially. This report considers such nonlinear change in its methodology.The transitions required to avoid the worst climate impacts are not happening fast enough. Of the 40 indicators assessed, none are on track to reach 2030 targets. Change is heading in the right direction at a promising but insufficient speed for 8 and in the right direction but well below the required pace for 17. Progress has stagnated for 3, while change for another 3 is heading in the wrong direction entirely. Data are insufficient to evaluate the remaining 9.This report also identifies underlying conditions that enable change—supportive policies, innovations, strong institutions, leadership, and shifts in social norms. Finance for climate action, for example, must increase nearly 13-fold to meet the estimated need in 2030