Cosmological parameters from SDSS and WMAP

We measure cosmological parameters using the three-dimensional power spectrum P(k) from over 200,000 galaxies in the Sloan Digital Sky Survey (SDSS) in combination with WMAP and other data. Our results are consistent with a ``vanilla'' flat adiabatic Lambda-CDM model without tilt (n=1), running tilt, tensor modes or massive neutrinos. Adding SDSS information more than halves the WMAP-only error bars on some parameters, tightening 1 sigma constraints on the Hubble parameter from h~0.74+0.18-0.07 to h~0.70+0.04-0.03, on the matter density from Omega_m~0.25+/-0.10 to Omega_m~0.30+/-0.04 (1 sigma) and on neutrino masses from <11 eV to <0.6 eV (95%). SDSS helps even more when dropping prior assumptions about curvature, neutrinos, tensor modes and the equation of state. Our results are in substantial agreement with the joint analysis of WMAP and the 2dF Galaxy Redshift Survey, which is an impressive consistency check with independent redshift survey data and analysis techniques. In this paper, we place particular emphasis on clarifying the physical origin of the constraints, i.e., what we do and do not know when using different data sets and prior assumptions. For instance, dropping the assumption that space is perfectly flat, the WMAP-only constraint on the measured age of the Universe tightens from t0~16.3+2.3-1.8 Gyr to t0~14.1+1.0-0.9 Gyr by adding SDSS and SN Ia data. Including tensors, running tilt, neutrino mass and equation of state in the list of free parameters, many constraints are still quite weak, but future cosmological measurements from SDSS and other sources should allow these to be substantially tightened.Comment: Minor revisions to match accepted PRD version. SDSS data and ppt figures available at http://www.hep.upenn.edu/~max/sdsspars.htm

Perspective from health professionals on delivery of sub-acute care in Hong Kong: A qualitative study in a health system

Objectives The perception and understanding of health professionals of the role of sub-acute care in the health system will have an impact on the potential effectiveness in preventing unnecessary hospitalization. This study aims to explore the perceived role and quality of sub-acute care services in the context of Hong Kong from the perspective of health service providers and to identify barriers to effectiveness.Methods Seven focus groups were conducted and the discussion was led by a guide covering three main areas: definition/component/role of sub-acute, difficulties in the sub-acute care services provision, and suggestion for further improvement in the provision of sub-acute care.Results The participants highlighted the positive role of sub-acute to promote patient's health and quality of life so as to reduce unnecessary hospitalization. The potential barriers in the sub-acute care identified were interrelated and focused mainly on systemic issues including lack of service coordination, specialist input and resources. The participants also suggested a number of practical ways to improve the quality of sub-acute care services.Conclusions The findings showed a need for further improvement in the process of sub-acute care by developing operation guideline and re-evaluating the allocation of resources to support the sub-acute care provision.Sub-acute care Communication barrier Health professionals Healthcare system

Treating depression with a smartphone-delivered self-help cognitive behavioral therapy for insomnia: a parallel-group randomized controlled trial

Background Despite its efficacy in treating comorbid insomnia and depression, cognitive behavioral therapy for insomnia (CBT-I) is limited in its accessibility and, in many countries, cultural compatibility. Smartphone-based treatment is a low-cost, convenient alternative modality. This study evaluated a self-help smartphone-based CBT-I in alleviating major depression and insomnia. Methods A parallel-group randomized, waitlist-controlled trial was conducted with 320 adults with major depression and insomnia. Participants were randomized to receive either a 6-week CBT-I via a smartphone application, proACT-S, or waitlist condition. The primary outcomes included depression severity, insomnia severity, and sleep quality. The secondary outcomes included anxiety severity, subjective health, and acceptability of treatment. Assessments were administered at baseline, post-intervention (week 6) follow-up, and week 12 follow-up. The waitlist group received treatment after the week 6 follow-up. Results Intention to treat analysis was conducted with multilevel modeling. In all but one model, the interaction between treatment condition and time at week 6 follow-up was significant. Compared with the waitlist group, the treatment group had lower levels of depression [Center for Epidemiologic Studies Depression Scale (CES-D): Cohen's d = 0.86, 95% CI (-10.11 to -5.37)], insomnia [Insomnia Severity Index (ISI): Cohen's d = 1.00, 95% CI (-5.93 to -3.53)], and anxiety [Hospital Anxiety and Depression Scale - Anxiety subscale (HADS-A): Cohen's d = 0.83, 95% CI (-3.75 to -1.96)]. They also had better sleep quality [Pittsburgh Sleep Quality Index (PSQI): Cohen's d = 0.91, 95% CI (-3.34 to -1.83)]. No differences across any measures were found at week 12, after the waitlist control group received the treatment. Conclusion proACT-S is an efficacious sleep-focused self-help treatment for major depression and insomnia. Trial registration ClinicalTrials.gov, NCT04228146. Retrospectively registered on 14 January 2020. https://clinicaltrials.gov/ct2/show/NCT0422814

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

An amendment to this paper has been published and can be accessed via a link at the top of the paper