Notes

Option Splicing Improves the Transcriptome Difficulty associated with Liriodendron chinense.
CONCLUSION Higher RMR is associated with a higher mitochondrial oxidative capacity in skeletal muscle. This association may reflect a relationship between better muscle quality and greater mitochondrial health. Published by Oxford University Press on behalf of The Gerontological Society of America 2020. This work is written by (a) US Government employee(s) and is in the public domain in the US.Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson's disease. Here, we found that variants in prosaposin (PSAP), a rare causative gene of various types of lysosomal storage disorders, are linked to Parkinson's disease. Genetic mutation screening revealed three pathogenic mutations in the saposin D domain of PSAP from three families with autosomal dominant Parkinson's disease. Whole-exome sequencing revealed no other variants in previously identified Parkinson's disease-causing or lysosomal storage disorder-causing genes. A case-control association study found two variants in the intronic regions of the PSAP saposin D domain (rs4747203 and rs885828) in sporadic Parkinson's disease had significantly higher allele frequencies in a combined cohort of Japan and Taiwan. We found the abnormal accumulation of autophagic vacuoles, impaired autophagic flux, altered intracellular localization of prosaposin, and an aggregation of α-synuclein in patient-derived skin fibroblasts or induced pluripotent stem cell-derived dopaminergic neurons. In mice, a Psap saposin D mutation caused progressive motor decline and dopaminergic neurodegeneration. Our data provide novel genetic evidence for the involvement of the PSAP saposin D domain in Parkinson's disease. © The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please email [email protected] antivirals (DAA) targeting hepatitis C virus (HCV) have revolutionized outcomes in HIV co-infection. We examined early events in liver and plasma through A5335S, a substudy of trial A5329 (paritaprevir/ritonavir, ombitasvir, dasabuvir, with ribavirin) that enrolled chronic genotype 1a HCV-infected persons co-infected with suppressed HIV 5/6 treatment-naïve enrollees completed A5335S. Mean baseline plasma HCV RNA=6.7 log10 IU/mL and changed by -4.1 log10 IU/mL by Day 7. In liver, laser capture microdissection was used to quantify HCV. At liver biopsy 1, mean (95% CI) %HCV-infected cells=25.2% (7.4%, 42.9%), correlating with plasma HCV RNA (Spearman rank correlation r=0.9); biopsy 2 (Day 7 in 4/5 participants) mean (95% CI) %HCV-infected cells=1.0% (0.2%, 1.7%)(p less then 0.05 for change), and DAAs were detectable in liver. Plasma CXCL10 concentrations changed by mean=-160 pg/mL/day at 24 hours, but no further after Day 4. We conclude that HCV infection is rapidly cleared from liver with DAA leaving less then 2% HCV-infected hepatocytes at Day 7. We extrapolate that HCV eradication could occur in these participants by 63 days, although immune activation might persist. Single-cell longitudinal estimates of HCV clearance from liver have never been reported previously and could be applied to estimating the minimum treatment duration required for HCV infection. © The Author(s) 2020. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail [email protected] A previous systematic review on pelvic floor muscle function (PFMF) identified a miscellaneity of terms. The lack of consensual terminology might have come from the complexity of neuromusculoskeletal function itself. This study sought to link the previously identified PFMF terms to the International Classification of Functioning, Disability and Health (ICF) terminology. METHODS In this secondary analysis study, 10 linkage rules were applied to link the 196 previously identified PFMF terms to the ICF. Two researchers performed the linking process independently. Disagreements were solved by open dialogue with a third researcher. Percentage agreement was computed for main outcome. RESULTS A total of 184 (93.9%) PFMF terms were subsumed into the following 6 ICF terms Tone, Involuntary movement reaction, Control, Coordination, Strength, and Endurance. The most frequently investigated PFMF was Strength (25.5%), followed by Involuntary movement reaction (22.9%), Endurance (17.2%), Control (14.1%), Coordination (9.9%), and Tone (4.2%). Only 6.2% PFMF could not be linked to ICF terminology. A wide variation of instruments/methods was used to measure PFMF. Vaginal palpation was the only method employed to measure all six PFMF. Percentage agreement between raters was 73.2%. CONCLUSIONS Linking PFMF terminology to the ICF was feasible and valid. It allowed the identification of the most investigated PFMF and their measuring methods. ICF terminology to describe PFMF should be used since it may improve communication, data gathering and the advance in scientific knowledge. IMPACT Standardized terminology anchored in a theoretical framework is crucial to data gathering, communication, and dissemination of evidence-based practice. The PFMF terminology based on ICF can be used to improve data pooling and communication. © 2020 American Physical Therapy Association.Substantial advances have been made recently in the pathobiology of pituitary tumors. Similar to many other endocrine tumors, over the last few years we have recognized the role of germline and somatic mutations in a number of syndromic or non-syndromic conditions with pituitary tumor predisposition. These include the identification of novel germline variants in patients with familial or simplex pituitary tumors and establishment of novel somatic variants identified through next generation sequencing. Advanced techniques have allowed the exploration of epigenetic mechanisms mediated through DNA methylation, histone modifications and non-coding RNAs, such as microRNA, long noncoding RNAs and circular RNAs. These mechanisms can influence tumor formation, growth and invasion. While genetic and epigenetic mechanisms often disrupt similar pathways, such as cell cycle regulation, in pituitary tumors there is little overlap between genes altered by germline, somatic and epigenetic mechanisms. The interplay between these complex mechanisms driving tumorigenesis are best studied in the emerging multi-omics studies. Here, we summarize insights from the recent developments in the regulation of pituitary tumorigenesis. © Endocrine Society 2020.With agriculture rapidly becoming a data driven field it is imperative to extract useful information from large data collections to optimize the production systems. We compared the efficacy of regression (linear regression or generalized linear regression for continuous or categorical outcomes, respectively), random forests (RF) and multilayer neural networks (NN) to predict beef carcass weight (CW), age when finished (AS), fat deposition (FD), and carcass quality (CQ). The data analyzed contained information on over 4 million beef cattle from 5,204 farms, corresponding to 4.3% of Brazil's national production between 2014-2016. Explanatory variables were integrated from different data sources and encompassed animal traits, participation in a technical advising program, nutritional products sold to farms, economic variables related to beef production, month when finished, soil fertility, and climate in the location in which animals were raised. The training set was composed of information collected in 2014 and allocation of resources at all levels of the production chain, rendering animal production more sustainable. Despite beef cattle production being a complex system, this analysis shows that by integrating different sources of data it is possible to forecast meat production and quality at the national level with moderate-high levels of accuracy. © The Author(s) 2020. Published by Oxford University Press on behalf of the American Society of Animal Science. All rights reserved. For permissions, please e-mail [email protected] experiments were conducted to investigate the effects of dietary CP level and N-carbamylglutamate (NCG) supplementation on apparent total tract digestibility (ATTD) and ileal digestibility of nutrients and digestive enzyme activity of jejunum in growing pigs. In Exp. 1, ten Duroc × Landrace × Yorkshire barrows (initial BW 48.7 kg) were allotted to a 3-period switchback design with 5 experimental diets and 2 replicate pigs per diet in each period. Diets were high-CP (HP, 18% CP), moderate low-CP (MLP, 15% CP), very low-CP (VLP, 12% CP), and MLP and VLP with 0.1% NCG supplementation. Feces and urine were collected from d 6 to 11 after a 5-d adaptation period. The DE, ME and ATTD of GE, OM, CP, NDF, ADF and P decreased (P less then 0.01) with reduction of dietary CP, but no effect of dietary treatments on pig daily N retention was detected. The NCG supplementation increased (P less then 0.01) DE and ATTD of ADF of VLP diet. In Exp. 2, ten jejunal-cannulated Duroc × Landrace × Yorkshire barrows (initial(P less then 0.01) the AID of CP and ileal digestibility of Arg, His, Leu, Phe, Val, Ser and Tyr. In conclusion, reducing dietary CP level decreased nutrient digestibility, but improved the efficiency of dietary N utilization and reduced N emission. Moderate reduction of dietary CP level had a minimal effect on nutrient digestibility and digestive enzyme activity. Additionally, NCG supplementation plays beneficial effect on nutrient digestion only if the dietary CP level is extremely lowered. © The Author(s) 2020. Published by Oxford University Press on behalf of the American Society of Animal Science. All rights reserved. For permissions, please e-mail [email protected] Several studies reported that Ulcerative colitis (UC) patients with endoscopic mucosal healing may still have histologic inflammation. We investigated the relationship between mucosal healing defined by modified PICaSSO (Paddington International Virtual ChromoendoScopy ScOre), Mayo Endoscopic Score (MES) and probe-based confocal laser endomicroscopy (pCLE) with histological indices in UC. METHODS A prospective study enrolling 82 UC patients (M 66%) was conducted. High definition (HD) colonoscopy was performed to evaluate the activity of the disease with MES assessed with High Definition (HD-MES) and modified PICaSSO and targeted biopsies were taken; pCLE was then performed. Receiver Operating Characteristic (ROC) curves were plotted to determine the best thresholds for modified PICaSSO and pCLE scores that predicted histological healing according to the Robarts Histopathology Index (RHI) and ECAP 'Extension, Chronicity, Activity, Plus' histology score. RESULTS A modified PICaSSO of ≤4 predicted histological healing at RHI ≤3, with sensitivity, specificity, accuracy and area under the ROC curve (AUROC) of 89.8%, 95.7%, 91.5% and 95.9% respectively. The sensitivity, specificity, accuracy and AUROC of HD-MES to predict histological healing by RHI were 81.4%, 95.7, 85.4% and 92.1%, respectively. A pCLE ≤10 predicted histological healing with sensitivity 94.9%, specificity 91.3%, accuracy of 93.9% and AUROC of 96.5%. An ECAP of ≤10 was predicted by modified PICaSSO ≤4 with accuracy of 91.5% and AUROC of 95.9%. CONCLUSION Histological healing by RHI and ECAP is accurately predicted by HD-MES and modified virtual electronic Chromoendoscopy PICaSSO,endoscopic score ; and the use of pCLE did not improve the accuracy any further. © The Author(s) 2020. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email [email protected].
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