Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

Distraction Arthrodesis of the C1-C2 Facet Joint with Preservation of the C2 Root for the Management of Intractable Occipital Neuralgia Caused by C2 Root Compression

Study Design. Prospective observational cohort study. Objective. To compare the outcomes of our new technique, distraction arthrodesis of C1–C2 facet joint with C2 root preservation (Study group), to those of conventional C1–C2 fusion with C2 root transection (Control group) for the management of intractable occipital neuralgia caused by C2 root compression. Summary of Background Data. We are not aware of any report concerning C2 root decompression during C1–C2 fusion. Materials and Methods. Inclusion criteria were visual analogue scale (VAS) score for occipital neuralgia 7 or more; C2 root compression at the collapsed C1–C2 neural foramen; and followup 12 months or more. The Study group underwent surgery with our new technique including (1) C1–C2 facet joint distraction and bone block insertion while preserving the C2 root; and (2) use of C1 posterior arch screws instead of conventional lateral mass screws during C1–C2 segmental screw fi xation. The Control group underwent C2 root transection with C1–C2 segmental screw fi xation and fusion. We compared the prospectively collected outcomes data. Results. There were 15 patients in the Study group and 8 in the Control group. Although there was no signifi cant difference in the VAS score for the occipital neuralgia between the 2 groups preoperatively (8.2 ± 0.9 vs. 7.9 ± 0.6, P = 0.39), it was signifi cantly lower in the Study group at 1, 3, and 6 months postoperatively ( P < 0.01, respectively). At 12 months, it was 0.4 ± 0.6 versus 2.5 ± 2.6 ( P = 0.01). There was no signifi cant difference in improvement in the VAS score for neck pain and neck disability index and Japanese Orthopedic Association recovery rate, which are minimally infl uenced by occipital neuralgia. Conclusion. Our novel technique of distraction arthrodesis with C2 root preservation can be an effective option for the management of intractable occipital neuralgia caused by C2 root compression.OAIID:oai:osos.snu.ac.kr:snu2015-01/102/0000004226/20ADJUST_YN:NEMP_ID:A079510DEPT_CD:801CITE_RATE:2.297FILENAME:spine-2015_yeom_distraction arthrodesis of the c1c2 facet joint with preservation.pdfDEPT_NM:의학과SCOPUS_YN:YCONFIRM:

The Association of the Activation-Inducible Tumor Necrosis Factor Receptor and Ligand with Lumbar Disc Herniation

Purpose: Herniated nucleus pulposus fragments are recognized by the immune system as a foreign-body, which results in an autoimmune reaction. Human activation-inducible tumor necrosis factor receptor (AITR) and its ligand, AITRL, are important costimulatory molecules in the pathogenesis of autoimmune diseases. Despite the importance of these costimulatory molecules in autoimmune disease, their role in the autoimmune reaction to herniated disc fragments has yet to be explored. The purpose of the present study is to investigate whether the overexpression of AITR and AITRL might be associated with lumbar disc herniation. Materials and Methods: The study population consisted of 20 symptomatic lumbar disc herniation patients. Ten macroscopically normal control discs were obtained from patients with spinal fractures managed with anterior procedures that involved a discectomy

The usefulness of dynamic MRI for selection of surgical decompression levels in cervical OPLL

OAIID:RECH_ACHV_DSTSH_NO:A201701190RECH_ACHV_FG:RR00200003ADJUST_YN:EMP_ID:A079510CITE_RATE:DEPT_NM:의학과EMAIL:[email protected]_YN:CONFIRM: