Single stage total endolesional C2 spondylectomy for chordoma.
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ABSTRACT:
SUBMITTER: Suchomel P
PROVIDER: S-EPMC3676555 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Chordomas are rare low malignant neoplasm arising from remnants of the notochord with predilection site of the clivus or the os sacrum. Standard therapy is radical excision and adjuvant radiation. Due to invasive growth and adjacent to vital structures resection is often incomplete, and therefore, local recurrence is frequent. First, to the best knowledge of our authors, we present a 70-year-old man with a recurrent chordoma infiltrating the corpus cavernosum. Asymptomatic recurrence was diagnosed by magnet resonance imaging according to the standard follow-up. Our interdisciplinary tumor board recommended surgical resection. We performed a total penectomy and perineal urethrostomy to achieve negative resection margins and preserve best quality of life for the patient.
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Project description:Periprosthetic joint infection in total knee arthroplasty is a significant complication that is a common reason for revision surgery. The current standard of care is two-stage revision surgery. There is however increasing evidence to support the use of single-stage revision surgery. We conducted a PRISMA systematic review of the current evidence on the use of single-stage revision for infected total knee arthroplasty. Four databases (PubMed, Embase, Science Direct, and Cochrane Library) were systematically screened for eligible studies. The risk bias of each study was identified using ROBINS-I tool, and the quality of evidence was assessed using the GRADE criteria. Sixteen articles were retained after applying the inclusion and exclusion criteria that evaluated 3645 knee single-stage revision surgeries. Our review reveals satisfactory outcomes for single-stage revision in the management of infected total knee arthroplasty. The reinfection rates in the studies included in our review varied however the majority reported low reinfection rates and good functional outcomes. Although strict patient selection criteria have yielded successful results, good results were also reported when these criteria were not applied. The greater use of risk factors in identifying patients likely to have a successful outcome needs to be balanced with the practical benefits of performing a single stage procedure in higher risk patients. Future large clinical randomized control trials are required to confirm our results.
| S-EPMC6406500 | biostudies-literature
Project description:Although LGALS3 has been widely studied, the genotypes of the LGALS3 single nucleotide polymorphism (SNP) loci in skull base chordoma (SBC) have been not well defined. The aim of the current study was to analyze two LGALS3 SNP genotypes in patients with SBC. A total of 48 patients with SBC who underwent surgical treatment in Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University (Beijing, China) and 66 healthy participants were included in the present study. A total of two SNPs (LGALS3+191 C>A and LGALS3 +292 A>C) were selected for sequencing analysis of amplified target fragments from DNA that was extracted from blood samples. The clinical features of the patients were recorded, follow-up was conducted and statistical analysis was performed with SPSS 20.0. There were no differences in age and sex between the patients and control group. In addition, there were no significant differences in the distribution of genotypes (P=0.662) and allelic frequencies (P=0.638) at LGALS3+191 C>A between the two groups. However, significant difference was observed in the allelic distributions at LGALS3 +292 A>C between them (P=0.016), and allele A was associated with the occurrence of SBC. The distribution of the genotypes at LGALS3 +292 A>C was not significantly different in the additive model (CC vs. AC vs. AA, P=0.083) but was significantly different in the dominant model (CC+AC vs. AA, P=0.043). In the Kaplan-Meier analysis, there were no significant differences in the overall survival and progression analysis between different genotypes at LGALS3 +191 C>A (P=0.168 and P=0.120) in patients with SBC. There was no significant difference in overall survival was observed between the genotypes at +292 A>C (P=0.595). However, the progression-free survival (PFS) time of the CC+AC genotype group was longer compared with the AA genotype group (P<0.001). In the univariate and multivariate analysis of tumor progression, PFS was shorter in the AA genotype group compared with the CC+AC genotype group (P<0.001). The allele A and AA genotype at LGALS3 +292 A>C were observed to be associated with a higher risk of SBC, and the AA genotype at +292 A>C was associated with a shorter PFS time.
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Project description:BackgroundChordoma is a rare bone cancer with an unknown etiology. TBXT is the only chordoma susceptibility gene identified to date; germline single nucleotide variants and copy number variants in TBXT have been associated with chordoma susceptibility in familial and sporadic chordoma. However, the genetic susceptibility of chordoma remains largely unknown. In this study, we investigated rare germline genetic variants in genes involved in TBXT/chordoma-related signaling pathways and other biological processes in chordoma patients from North America and China.MethodsWe identified variants that were very rare in general population and internal control datasets and showed evidence for pathogenicity in 265 genes in a whole exome sequencing (WES) dataset of 138 chordoma patients of European ancestry and in a whole genome sequencing (WGS) dataset of 80 Chinese patients with skull base chordoma.ResultsRare and likely pathogenic variants were identified in 32 of 138 European ancestry patients (23%), including genes that are part of notochord development, PI3K/AKT/mTOR, Sonic Hedgehog, SWI/SNF complex and mesoderm development pathways. Rare pathogenic variants in COL2A1, EXT1, PDK1, LRP2, TBXT and TSC2, among others, were also observed in Chinese patients.ConclusionWe identified several rare loss-of-function and predicted deleterious missense variants in germline DNA from patients with chordoma, which may influence chordoma predisposition and reflect a complex susceptibility, warranting further investigation in large studies.
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Project description:The molecular basis of chordoma is still poorly understood, particularly with respect to differentially expressed genes involved in the primary origin of chordoma. In this study, therefore, we compared the transcriptional expression profile of one sacral chordoma recurrence, two chordoma cell lines (U-CH1 and U-CH2) and one chondrosarcoma cell line (U-CS2) with vertebral disc using a high-density oligonucleotide array. The expression of 65 genes whose mRNA levels differed significantly (p<0.001; ?6-fold change) between chordoma and control (vertebral disc) was identified. Genes with increased expression in chordoma compared to control and chondrosarcoma were most frequently located on chromosomes 2 (11%), 5 (8%), 1 and 7 (each 6%), whereas interphase cytogenetics of 33 chordomas demonstrated gains of chromosomal material most prevalent on 7q (42%), 12q (21%), 17q (21%), 20q (27%) and 22q (21%). The microarray data were confirmed for selected genes by quantitative polymerase chain reaction analysis. As in other studies, we showed the expression of brachyury. We demonstrate the expression of new potential candidates for chordoma tumorigenesis, such as CD24, ECRG4, RARRES2, IGFBP2, RAP1, HAI2, RAB38, osteopontin, GalNAc-T3, VAMP8 and others. Thus, we identified and validated a set of interesting candidate genes whose differential expression likely plays a role in chordoma.
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Project description:Single cell RNA sequencing methods have been increasingly used to understand cellular heterogeneity. Nevertheless, most of these methods suffer from one or more limitations, such as focusing only on polyadenylated RNA, sequencing of only the 3' end of the transcript, an exuberant fraction of reads mapping to ribosomal RNA, and the unstranded nature of the sequencing data. Here, we developed a novel single cell strand-specific total RNA library preparation method addressing all the aforementioned shortcomings. Our method was validated on a microfluidics system using three different cancer cell lines undergoing a chemical or genetic perturbation and on two other cancer cell lines sorted in microplates. We demonstrate that our total RNA-seq method detects an equal or higher number of genes compared to classic polyA[+] RNA-seq, including novel and non-polyadenylated genes. The obtained RNA expression patterns also recapitulate the expected biological signal. Inherent to total RNA-seq, our method is also able to detect circular RNAs. Taken together, SMARTer single cell total RNA sequencing is very well suited for any single cell sequencing experiment in which transcript level information is needed beyond polyadenylated genes.
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Project description:Early non-progressive horizontal radiolucent lines (RLLs) (<2 mm) under the tibial component following cemented total knee replacement (TKR) are considered to result from poor cement injection into cancellous bone. These RLLs may facilitate the entry of joint fluid and wear debris into the interface, which may proceed to ballooning osteolysis. There is currently no consensus on the preferred cementing technique (single- versus two-stage cementation) in TKR. We have prospectively analysed postoperative radiographs in 50 consecutive TKRs to compare the RLLs following single- (25 TKRs) and two-stage (25 TKRs) cementation techniques. Of the TKR radiographs studied, 26 (52%) had RLLs; nine (36%) of these were single-stage TKRs, and 17 (68%) were two-stage TKRs. This study demonstrates that single-stage cementing may be superior to the two-stage technique in terms of avoiding RLLs in immediate postoperative TKRs.
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Project description:Gene expression profile of human chordoma samples. These samples were combined with the chordoma samples from those of E-MEXP-353. These were normalised and batch corrected as per materials and methods in the published paper. Gene set enrichment analysis was then performed to determine enrichment of target genes of T between the rs2305089 genotypes (GA vs AA).
2013-08-20 | E-MEXP-3717 | biostudies-arrayexpress
Project description:Small diffusible redox proteins facilitate electron transfer in respiration and photosynthesis by alternately binding to their redox partners and integral membrane proteins and exchanging electrons. Diffusive search, recognition, binding, and unbinding of these proteins often amount to kinetic bottlenecks in cellular energy conversion, but despite the availability of structures and intense study, the physical mechanisms controlling redox partner interactions remain largely unknown. The present molecular dynamics study provides an all-atom description of the cytochrome c2-docked bc1 complex in Rhodobacter sphaeroides in terms of an ensemble of favorable docking conformations and reveals an intricate series of conformational changes that allow cytochrome c2 to recognize the bc1 complex and bind or unbind in a redox state-dependent manner. In particular, the role of electron transfer in triggering a molecular switch and in altering water-mediated interface mobility, thereby strengthening and weakening complex formation, is described. The results resolve long-standing discrepancies between structural and functional data.
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