1.Myelography in the Assessment of Degenerative Lumbar Scoliosis and Its Influence on Surgical Management.
George MCKAY ; Peter Alexander TORRIE ; Wendy BERTRAM ; Priyan LANDHAM ; Stephen MORRIS ; John HUTCHINSON ; Roland WATURA ; Ian HARDING
Korean Journal of Spine 2017;14(4):133-138
OBJECTIVE: Myelography has been shown to highlight foraminal and lateral recess stenosis more readily than computed tomography (CT) or magnetic resonance imaging (MRI). It also has the advantage of providing dynamic assessment of stenosis in the loaded spine. The advent of weight-bearing MRI may go some way towards improving assessment of the loaded spine and is less invasive, however availability remains limited. This study evaluates the potential role of myelography and its impact upon surgical decision making. METHODS: Of 270 patients undergoing myelography during 2006–2009, a period representing peak utilisation of this imaging modality in our unit, we identified 21 patients with degenerative scoliosis who fulfilled our inclusion criteria. An operative plan was formulated by our senior author based initially on interpretation of an MRI scan. Subsequent myelogram and CT myelogram investigations were scrutinised, with any additional abnormalities noted and whether these impacted upon the operative plan. RESULTS: From our 21 patients, 18 (85.7%) had myelographic findings not identified on MRI. Of note, in 4 patients, supine CT myelography yielded additional information when compared to supine MRI in the same patients. The management of 7 patients (33%) changed as a result of myelographic investigation. There were no complications of myelography of the total 270 analysed. CONCLUSION: MRI scan alone understates the degree of central and lateral recess stenosis. In addition to the additional stenosis displayed by dynamic myelography in the loaded spine, we have also shown that static myelography and CT myelography are also invaluable tools with regards to surgical planning in these patients.
Congenital Abnormalities
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Constriction, Pathologic
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Decision Making
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Humans
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Magnetic Resonance Imaging
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Myelography*
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Scoliosis*
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Spine
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Weight-Bearing
2.Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.
Na QIN ; Yuancheng LI ; Cheng WANG ; Meng ZHU ; Juncheng DAI ; Tongtong HONG ; Demetrius ALBANES ; Stephen LAM ; Adonina TARDON ; Chu CHEN ; Gary GOODMAN ; Stig E BOJESEN ; Maria Teresa LANDI ; Mattias JOHANSSON ; Angela RISCH ; H-Erich WICHMANN ; Heike BICKEBOLLER ; Gadi RENNERT ; Susanne ARNOLD ; Paul BRENNAN ; John K FIELD ; Sanjay SHETE ; Loic LE MARCHAND ; Olle MELANDER ; Hans BRUNNSTROM ; Geoffrey LIU ; Rayjean J HUNG ; Angeline ANDREW ; Lambertus A KIEMENEY ; Shan ZIENOLDDINY ; Kjell GRANKVIST ; Mikael JOHANSSON ; Neil CAPORASO ; Penella WOLL ; Philip LAZARUS ; Matthew B SCHABATH ; Melinda C ALDRICH ; Victoria L STEVENS ; Guangfu JIN ; David C CHRISTIANI ; Zhibin HU ; Christopher I AMOS ; Hongxia MA ; Hongbing SHEN
Frontiers of Medicine 2021;15(2):275-291
Although genome-wide association studies have identified more than eighty genetic variants associated with non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largely unknown. By integrating a large-scale genotype data of 15 581 lung adenocarcinoma (AD) cases, 8350 squamous cell carcinoma (SqCC) cases, and 27 355 controls, as well as multiple transcriptome and epigenomic databases, we conducted histology-specific meta-analyses and functional annotations of both reported and novel susceptibility variants. We identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like and promoter-like histone modification peaks as well as DNase I hypersensitive sites. Transcription factor enrichment analysis revealed that USF1 was AD-specific while CREB1 was SqCC-specific. Functional annotation and gene-based analysis implicated 894 target genes, including 274 specifics for AD and 123 for SqCC, which were overrepresented in somatic driver genes (ER = 1.95, P = 0.005). Pathway enrichment analysis and Gene-Set Enrichment Analysis revealed that AD genes were primarily involved in immune-related pathways, while SqCC genes were homologous recombination deficiency related. Our results illustrate the molecular basis of both well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic heterogeneity between AD and SqCC but also a set of plausible gene targets for post-GWAS functional experiments.
Adenocarcinoma of Lung/genetics*
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Carcinoma, Non-Small-Cell Lung/genetics*
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Carcinoma, Squamous Cell/genetics*
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Genetic Heterogeneity
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Genetic Predisposition to Disease
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Genome-Wide Association Study
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Humans
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Lung Neoplasms/genetics*
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Polymorphism, Single Nucleotide