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undergoing multi-level spinal deformity surgery, almost 70% of patients reported significant improvements in ODI without taking into account surgical indications, techniques or complications. Clear data is presented demonstrating the particular change from baseline for each decile of pre-operative ODI score, for each sub-score, and for each age group.
In this prospective, multicenter, multi-continental study of patients 60 years or older undergoing multi-level spinal deformity surgery, almost 70% of patients reported significant improvements in ODI without taking into account surgical indications, techniques or complications. Zebularine Clear data is presented demonstrating the particular change from baseline for each decile of pre-operative ODI score, for each sub-score, and for each age group.
Ossification of the posterior longitudinal ligament (OPLL) in the cervical spine is known as a rare, complex genetic disease, its complexity being partly because OPLL is diagnosed by radiological findings regardless of clinical or genetic evaluations. Although many genes associated with susceptibility have been reported, the exact causative genes are still unknown.
We performed an analysis using next-generation sequencing and including only patients with a clear involved phenotype.
This was a case control study.
A total of 74 patients with severe OPLL and 26 healthy controls were included.
Causal single-nucleotide variant (SNV), gene-wise variant burden (GVB), and related pathway METHOD We consecutively included the severe OPLL patients with continuous-/mixed-type and an occupying ratio of ≥ 40%, and performed whole-exome sequencing (WES) and bioinformatic analysis. Then, a validation test was performed for candidate variations. Participants were divided into 4 groups (rapidly-growing OPLL, growing h rapidly-growing OPLL.
Identification of unique variants in novel genes such as CYP4B1 gene may induce the development of OPLL. In subgroup analysis, NLRP1 and SSH2 genes coding inflammation molecules may related with rapidly-growing OPLL.
Minimally invasive surgical transforaminal lumbar interbody fusion (MIS-TLIF) was developed in addition to open-TLIF to minimize iatrogenic soft-tissue damage. A potential disadvantage of MIS-TLIF is inadequate visualization, which may lead to incomplete neural decompression and a less robust arthrodesis. This may cause long-term problems and result in decreased patient satisfaction.
To evaluate the long-term clinical outcome, measured by patient-reported outcomes (PROMs), of patients with degenerative lumbar diseases treated with single-level TLIF (open vs. minimally invasive) with a minimum follow-up of 2-years.
Meta-analysis.
The systematic review was conducted according to the PRISMA guidelines. Relevant studies were identified from Pubmed, MEDLINE, EMBASE, Scopus, Web of Science, and CENTRAL from the date of inception to August 2019. The inclusion criteria were (1) longitudinal comparative studies of MIS-TLIF versus open-TLIF approach for degenerative spine disease (2) outcomes reported as PROMs,ical outscomes. Both operations can significantly reduce pain and positively improve PROMs. No significant differences were found between both treatments in clinical outcomes at a follow-up of minimal 2-years. Therefore, MIS-TLIF seems to be an effective and safe alternative to traditional open-TLIF in the long-term.Spontaneous bacterial peritonitis (SBP) is a feared complication of ascites that affects 10%-30% of hospitalized patients with cirrhosis with an associated mortality rate of approximately 20%.1-3 Although efforts have been undertaken to encourage prompt evaluation and treatment of SBP, outcomes have generally remained dismal.3 There is significant interest in identifying factors that can reliably predict mortality among individuals with SBP.Alternative mRNA splicing is a fundamental process to increase the versatility of the genome. In humans, cardiac mRNA splicing is involved in the pathophysiology of heart failure. Mutations in the splicing factor RNA binding motif protein 20 (RBM20) cause severe forms of cardiomyopathy. To identify novel cardiomyopathy-associated splicing factors, RNA-seq and tissue-enrichment analysis were performed, which identified upregulation of Sam68-Like Mammalian Protein 2 (SLM2) in the left ventricle of dilated cardiomyopathy (DCM) patients. In the human heart, SLM2 binds to important transcripts of sarcomere constituents, such as myosin light chain 2 (MYL2), troponin I3 (TNNI3), troponin T2 (TNNT2), tropomyosin 1/2 (TPM1/2), and titin (TTN). Mechanistically, SLM2 mediates intron retention, prevents exon exclusion, and thereby mediates alternative splicing of the mRNA regions encoding the variable proline-, glutamate-, valine-, and lysine-rich (PEVK) domain and another part of the I-band region of titin. In summary, SLM2 is a novel cardiac splicing regulator with essential functions for maintaining cardiomyocyte integrity by binding and processing the mRNA of essential cardiac constituents such as titin.Assay for transposase-accessible chromatin with high-throughput sequencing (ATAC-seq) is a technique widely used to investigate genome-wide chromatin accessibility. The recently published Omni-ATAC-seq protocol substantially improves the signal/noise ratio and reduces the input cell number. High-quality data are critical to ensure accurate analysis. Several tools have been developed for assessing sequencing quality and insertion size distribution for ATAC-seq data; however, key quality control (QC) metrics have not yet been established to accurately determine the quality of ATAC-seq data. Here, we optimized the analysis strategy for ATAC-seq and defined a series of QC metrics, including reads under peak ratio (RUPr), background (BG), promoter enrichment (ProEn), subsampling enrichment (SubEn), and other measurements. We incorporated these QC tests into our recently developed ATAC-seq Integrative Analysis Package (AIAP) to provide a complete ATAC-seq analysis system, including quality assurance, improved peak calling, and downstream differential analysis. We demonstrated a significant improvement of sensitivity (20%-60%) in both peak calling and differential analysis by processing paired-end ATAC-seq datasets using AIAP. AIAP is compiled into Docker/Singularity, and with one command line execution, it generates a comprehensive QC report. We used ENCODE ATAC-seq data to benchmark and generate QC recommendations, and developed qATACViewer for the user-friendly interaction with the QC report. The software, source code, and documentation of AIAP are freely available at https//github.com/Zhang-lab/ATAC-seq_QC_analysis.