Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Exponential growth, high prevalence of SARS-CoV-2, and vaccine effectiveness associated with the Delta variant

SARS-CoV-2 infections were rising during early summer 2021 in many countries associated with the Delta variant. We assessed RT-PCR swab-positivity in the REal-time Assessment of Community Transmission-1 (REACT-1) study in England. We observed sustained exponential growth with average doubling time (June-July 2021) of 25 days driven by complete replacement of Alpha variant by Delta, and by high prevalence at younger less-vaccinated ages. Unvaccinated people were three times more likely than double-vaccinated people to test positive. However, after adjusting for age and other variables, vaccine effectiveness for double-vaccinated people was estimated at between ~50% and ~60% during this period in England. Increased social mixing in the presence of Delta had the potential to generate sustained growth in infections, even at high levels of vaccination

Benefits and challenges of telemedicine for heart failure consultations: a qualitative study

Abstract Background Prior to the Covid-19 pandemic, heart failure (HF) disease management programmes were predominantly delivered in-person, with telemedicine being uncommon. Covid-19 resulted in a rapid shift to “remote-by-default” clinic appointments in many organisations. We evaluated clinician and patient experiences of teleconsultations for HF. Methods From 16th March 2020, all HF appointments at a specialist centre in the UK were telemedicine-by-default through a mixture of telephone and video consultations, with rare in-person appointments. HF clinicians and patients with HF were invited to participate in semi-structured interviews about their experiences. A purposive sampling technique was used. Interviews were conducted using Microsoft Teams®, recorded and transcribed verbatim. Narrative data were explored by thematic analysis. Clinicians and patients were interviewed until themes saturated. Results Eight clinicians and eight patients with HF were interviewed before themes saturated. Five overarching themes emerged: 1) Time utilisation – telemedicine consultations saved patients time travelling to and waiting for appointments. Clinicians perceived them to be more efficient, but more administrative time was involved. 2) Clinical assessment – without physical examination, clinicians relied more on history, observations and test results; video calls were perceived as superior to telephone calls for remote assessment. Patients confident in self-monitoring tended to be more comfortable with telemedicine. 3) Communication and rapport – clinicians experienced difficulty establishing rapport with new patients by telephone, though video was better. Patients generally did not perceive that remote consultation affected their rapport with clinicians. 4) Technology – connection issues occasionally disrupted video consultations, but overall patients and clinicians found the technology easy to use. 5) Choice and flexibility – both patients and clinicians believed that the choice of modality should be situation-dependent. Conclusions Telemedicine HF consultations were more convenient for patients, saved them time, and were generally acceptable to clinicians, but changed workflows, consultation dynamics, and how clinical assessment was performed. Telemedicine should be used alongside in-person appointments in a “hybrid” model tailored to individual patients and settings

Education and support needs of the older adult with congenital heart disease

Aim.  This article is a report of a study exploring health-related quality of life in adults with congenital heart disease and the extent to which it is associated with patients’ illness beliefs and emotional health. Background.  A reduction in mortality in patients with congenital heart disease has led to an increasingly older population that faces new challenges. Studies in a younger adult population have reported inconsistent findings regarding health-related quality of life. Factors such as, the complexity of the congenital heart defect, have not been found to be associated with quality of life. The association between illness beliefs and health-related quality of life has not previously been reported. Method.  A cross-sectional questionnaire study of adults with congenital heart disease attending an outpatient clinic in a specialist centre in the United Kingdom between October 2007 and May 2008. Results.  The mean age of the study population was 37·2 years. Participants reported poorer physical functioning, role functioning and general health than a general population. High levels of anxiety were reported in 38% and high levels of depression in 17%. In multivariate analysis, higher levels of anxiety and depression were associated with poorer mental functioning and higher levels of depression with poorer physical quality of life. Conclusion.  We have reported that high levels of anxiety and depression in an older population of patients with congenital heart disease are associated with poorer quality of life. This highlights the need to routinely assess anxiety and depression in this patient group and to provide psychological support appropriately

Education and support needs of the older adult with congenital heart disease

Aim.  This article is a report of a study exploring health-related quality of life in adults with congenital heart disease and the extent to which it is associated with patients’ illness beliefs and emotional health. Background.  A reduction in mortality in patients with congenital heart disease has led to an increasingly older population that faces new challenges. Studies in a younger adult population have reported inconsistent findings regarding health-related quality of life. Factors such as, the complexity of the congenital heart defect, have not been found to be associated with quality of life. The association between illness beliefs and health-related quality of life has not previously been reported. Method.  A cross-sectional questionnaire study of adults with congenital heart disease attending an outpatient clinic in a specialist centre in the United Kingdom between October 2007 and May 2008. Results.  The mean age of the study population was 37·2 years. Participants reported poorer physical functioning, role functioning and general health than a general population. High levels of anxiety were reported in 38% and high levels of depression in 17%. In multivariate analysis, higher levels of anxiety and depression were associated with poorer mental functioning and higher levels of depression with poorer physical quality of life. Conclusion.  We have reported that high levels of anxiety and depression in an older population of patients with congenital heart disease are associated with poorer quality of life. This highlights the need to routinely assess anxiety and depression in this patient group and to provide psychological support appropriately

The things we do with words Contemporary approaches to the analysis of ideology

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