HD-DEMUCS: General Speech Restoration with Heterogeneous Decoders

This paper introduces an end-to-end neural speech restoration model, HD-DEMUCS, demonstrating efficacy across multiple distortion environments. Unlike conventional approaches that employ cascading frameworks to remove undesirable noise first and then restore missing signal components, our model performs these tasks in parallel using two heterogeneous decoder networks. Based on the U-Net style encoder-decoder framework, we attach an additional decoder so that each decoder network performs noise suppression or restoration separately. We carefully design each decoder architecture to operate appropriately depending on its objectives. Additionally, we improve performance by leveraging a learnable weighting factor, aggregating the two decoder output waveforms. Experimental results with objective metrics across various environments clearly demonstrate the effectiveness of our approach over a single decoder or multi-stage systems for general speech restoration task.Comment: Accepted by INTERSPEECH 202

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98th or <2nd percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments

Case series of branch retinal vein occlusion secondary to rhegmatogenous retinal detachment and its surgical management

Abstract Background To review cases of branch retinal vein occlusion (BRVO) secondary to rhegmatogenous retinal detachment (RRD) and its surgical management and presume their mechanism. Methods Medical records of patients who underwent surgery for RRD between 2015 and 2019 at a single tertiary care center were retrospectively reviewed. New BRVO secondary to RRD or its surgical procedure was diagnosed based on the fundus examination and its clinical course. Results A total of 734 RRD surgeries were performed for five years, and six cases of new BRVOs were noticed in the first year after surgery (incidence was 0.68%: six cases of BRVO / 734 cases of surgical RRD); five cases occurred after vitrectomy, and one occurred after scleral buckling. In three cases, retinal veins were presumed to already be partially occluded related due to a kink of the retinal vein seen before surgery. In the other three cases, the retinal veins were presumed to have incurred damage during vitrectomy. Conclusion In the present cohort, RRD or its related procedures caused BRVO within a year of surgery at an incidence of 0.68%. The proposed mechanisms are kinks of the retinal vein on the detached retina and damage to the retinal vein during vitrectomy

Healthcare service use and medical outcomes of tracheostomy-dependent children: a nationwide study

Background Despite the rising trend of tracheostomies in children, there is a lack of comprehensive resources for families to navigate the challenges of living with a tracheostomy, emphasising the need for evidence-based support in understanding postoperative care and long-term adjustments. This study aimed to examine the pattern of using healthcare services and nationwide medical outcomes in children who underwent a tracheotomy before the age of 2 years.Methods This retrospective study used the National Health Insurance System database from 2008 to 2016 and included all children codified with tracheotomy procedure codes before their second birthday. Healthcare utilisation, such as medical costs, number of hospital visits, home healthcare nursing and medical diagnoses on readmission, in the first 2 years after tracheotomy was evaluated. Multivariable logistic regression analysis was used to determine the factors affecting mortality.Results In total, 813 patients were included in this study. Their use of healthcare services and the accompanying expenses were higher than the national medians for similar age groups; however, both metrics decreased in the second year. The major causes of admission within 2 years of surgery were respiratory and neurological diseases. The mortality rate within 2 years was 37.8%. Higher risks of mortality were associated with having two or more complex chronic conditions. Use of home healthcare nursing services was associated with a lower mortality risk.Conclusion Paediatric patients with more complex chronic conditions tended to have higher mortality rates within 2 years after surgery. However, receiving home healthcare nursing was significantly associated with a reduced risk of death. Many causes of hospitalisation may be preventable with education and supportive care. Therefore, further research for establishing an integrated care system for these patients and their caregivers is required

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (\u3e98th or \u3c2nd percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments. © 2014 The American Society of Human Genetics

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 variants associated with lipid levels but are not well suited to assess the impact of rare and low-frequency variants. To determine whether rare or low-frequency coding variants are associated with LDL-C, we exome sequenced 2,005 individuals, including 554 individuals selected for extreme LDL-C (>98(th) or <2(nd) percentile). Follow-up analyses included sequencing of 1,302 additional individuals and genotype-based analysis of 52,221 individuals. We observed significant evidence of association between LDL-C and the burden of rare or low-frequency variants in PNPLA5, encoding a phospholipase-domain-containing protein, and both known and previously unidentified variants in PCSK9, LDLR and APOB, three known lipid-related genes. The effect sizes for the burden of rare variants for each associated gene were substantially higher than those observed for individual SNPs identified from GWASs. We replicated the PNPLA5 signal in an independent large-scale sequencing study of 2,084 individuals. In conclusion, this large whole-exome-sequencing study for LDL-C identified a gene not known to be implicated in LDL-C and provides unique insight into the design and analysis of similar experiments

Annual report &amp; accounts 1995-1996

SIGLEAvailable from British Library Document Supply Centre-DSC:1502.70752(1995/1996) / BLDSC - British Library Document Supply CentreGBUnited Kingdo