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| 2. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 3. |
- Phillips, Helen R. P., et al.
(författare)
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Global distribution of earthworm diversity
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 366:6464, s. 480-
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Tidskriftsartikel (refereegranskat)abstract
- Soil organisms, including earthworms, are a key component of terrestrial ecosystems. However, little is known about their diversity, their distribution, and the threats affecting them. We compiled a global dataset of sampled earthworm communities from 6928 sites in 57 countries as a basis for predicting patterns in earthworm diversity, abundance, and biomass. We found that local species richness and abundance typically peaked at higher latitudes, displaying patterns opposite to those observed in aboveground organisms. However, high species dissimilarity across tropical locations may cause diversity across the entirety of the tropics to be higher than elsewhere. Climate variables were found to be more important in shaping earthworm communities than soil properties or habitat cover. These findings suggest that climate change may have serious implications for earthworm communities and for the functions they provide.
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| 4. |
- Enajat, Morteza, et al.
(författare)
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Aesthetic Refinements and Reoperative Procedures Following 370 Consecutive DIEP and SIEA Flap Breast Reconstructions : Important Considerations for Patient Consent
- 2010
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Ingår i: Aesthetic Plastic Surgery. - : Springer Science and Business Media LLC. - 0364-216X .- 1432-5241. ; 34:3, s. 306-312
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Tidskriftsartikel (refereegranskat)abstract
- Breast reconstruction often requires multiple operations. In addition to potential complications requiring reoperation, additional procedures are frequently essential in order to complete the reconstructive process, with aesthetic outcome and breast symmetry shown to be the most important factors in patient satisfaction. Despite the importance of these reoperations in decision-making and the consent process, a thorough review of the need for such operations has not been definitively explored. A review of 370 consecutive autologous breast reconstructions (326 patients) was undertaken, comprising 365 deep inferior epigastric artery perforator (DIEP) flaps and 5 superficial inferior epigastric artery (SIEA) flaps. The need for additional procedures for either complications or aesthetic refinement following initial breast reconstruction was assessed. Overall, there was an average of 1.06 additional interventions for every patient carried out after primary reconstructive surgery. Of 326 patients, 46 underwent early postoperative operations for surgical complications (0.17 additional operations per patient as a consequence of complications). Procedures for aesthetic refinement included those performed on the reconstructed breast, contralateral breast, or abdominal donor site. Procedures for aesthetic refinement included nipple reconstruction, nipple-areola complex tattooing, dog-ear correction, liposuction, lipofilling, scar revision, mastopexy, and reduction mammaplasty. While DIEP flap surgery for breast reconstruction provides favorable results, patients frequently require additional procedures to improve aesthetic outcomes. The need for reoperation is an important part of the consent process prior to reconstructive surgery, and patients should recognize the likelihood of at least one additional procedure following initial reconstruction.
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| 5. |
- Acosta, Rafael, et al.
(författare)
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Performing two DIEP flaps in a working day : an achievable and reproducible practice
- 2010
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Ingår i: Journal of Plastic, Reconstructive and Aesthetic Surgery. - : Elsevier BV. - 1748-6815. ; 63:4, s. 648-654
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Tidskriftsartikel (refereegranskat)abstract
- Background: While the deep inferior epigastric artery perforator (DIEP) flap is a reliable technique for autologous breast reconstruction, the meticulous dissection of perforators may require lengthy operative times. In our unit, we have performed 600 free flaps for breast reconstruction over 8 years and have reduced operative times with a combination of preoperative computed tomographic angiography (CTA), various anastomotic techniques and the Cook-Swartz implantable Doppler probe for perfusion monitoring. We sought to assess the feasibility of performing two DIEP flaps within the working hours of a single day. Methods: A review of 101 consecutive patients undergoing DIEP flap breast reconstruction in a 12-month period was performed, comparing one DIEP flap per day (n=43) to two DIEP flaps per day (n=58). Complications, outcomes and techniques used were critically analysed. For cases of two DIEP flaps per day, a comparison was made between the use of two separate operating theatres (n=44) and a single consecutive theatre (n=14). Results: Complications did not increase when two DIEP flaps were performed in a single working day. The use of vascular closure staple (VCS) sutures and ring couplers resulted in statistically significant reductions in anastomotic times. The use of two separate theatres for performing two DIEP flaps resulted in a reduction of 59 min in operative time per case (p=0.004). Conclusion: Two DIEP flaps can be safely and routinely performed within the hours of a single working day. By minimising operative times, these techniques can improve productivity and substantially decrease surgeon fatigue.
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| 6. |
- Enajat, Morteza, et al.
(författare)
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A single center comparison of one versus two venous anastomoses in 564 consecutive diep flaps : Investigating the effect on venous congestion and flap survival
- 2010
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Ingår i: Microsurgery. - : Wiley. - 0738-1085 .- 1098-2752. ; 30:3, s. 185-191
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Tidskriftsartikel (refereegranskat)abstract
- Background: Venous complications have been reported as the more frequently encountered vascular complications seen in the transfer of deep inferior epigastric artery (DIEA) perforator (DIEP) flaps, with a variety of techniques described for augmenting the venous drainage of these flaps to minimize venous congestion. The benefits of such techniques have not been shown to be of clinical benefit on a large scale due to the small number of cases in published series. Methods: A retrospective study of 564 consecutive DIEP flaps at a single institution was undertaken, comparing the prospective use of one venous anastomosis (273 cases) to two anastomoses (291 cases). The secondary donor vein comprised a second DIEA venae commitante in 7.9% of cases and a superficial inferior epigastric vein (SIEV) in 92.1%. Clinical outcomes were assessed, in particular rates of venous congestion. Results: The use of two venous anastomoses resulted in a significant reduction in the number of cases of venous congestion to zero (0 vs. 7, P = 0.006). All other outcomes were similar between groups. Notably, the use of a secondary vein did not result in any significant increase in operative time (385 minutes vs. 383 minutes, P = 0.57). Conclusions: The use of a secondary vein in the drainage of a DIEP flap can significantly reduce the incidence of venous congestion, with no detriment to complication rates. Consideration of incorporating both the superficial and deep venous systems is an approach that may further improve the venous drainage of the flap.
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| 7. |
- Enajat, Morteza, et al.
(författare)
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The deep inferior epigastric artery perforator flap for autologous reconstruction of large partial mastectomy defects
- 2011
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Ingår i: Microsurgery. - : Wiley. - 0738-1085 .- 1098-2752. ; 31:1, s. 12-17
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Tidskriftsartikel (refereegranskat)abstract
- Background: Breast conservation surgery in the treatment of early stage breast cancer has become increasingly utilized as a means to avoiding mastectomy. While partial mastectomy defects (PMDs) may often be cosmetically acceptable, some cases warrant consideration of reconstructive options, and while several reconstructive options have been described in this role, a series of deep inferior epigastric perforator (DIEP) flaps has not been reported to date. Methods: A cohort of 18 patients undergoing PMD reconstruction with a DIEP flap were included. Patient-specific data, operation details, cosmetic results, and complication rates were assessed. Oncologic outcomes, in particular recurrence rates, were also evaluated. Results: In our series there were no cases of partial or total flap necrosis, and overall complications were low. There were two cases of wound infection (both had undergone radiotherapy), managed conservatively, and one case of reoperation due to hematoma. There were no cancer recurrences or effect on oncologic management. Cosmetic outcome was rated as high by both patients and surgeon. The results were thus comparable with other reconstructive options. Conclusion: Although autologous reconstruction has an established complication rate, our results suggest that the DIEP flap may be of considerable value for delayed reconstruction of selected larger partial mastectomy defects.
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| 8. |
- Whitaker, Iain S., et al.
(författare)
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Peritoneo-cutaneous perforators in deep inferior epigastric perforator flaps : a cadaveric dissection and computed tomographic angiography study
- 2009
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Ingår i: Microsurgery. - : Wiley. - 0738-1085 .- 1098-2752. ; 29:2, s. 124-127
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Cutaneous perforators that do not originate from the deep inferior epigastric artery (DIEA) are rare, but may significantly affect operative outcome. Peritoneal-cutaneous perforators have been described as a source for augmenting the blood flow to a deep inferior epigastric perforator (DIEP) flap, however if unrecognized, may compromise flap survival. METHODS: We reviewed 375 DIEA perforator (DIEP) flaps (325 with preoperative CTA and 50 cadaveric dissections) to investigate the incidence of this anomaly. RESULTS: We detected this variation in 3/325 (1%) of DIEP flaps following preoperative computed tomography. In 1/50 (2%) of the cadaveric specimens, a peritoneal-cutaneous perforator was found and injected with lead oxide contrast. It was shown to fill the cutaneous veins of the majority of the lower abdominal integument. CONCLUSION: Peritoneal-cutaneous perforators are rare anatomical variations (4/375: 1.1%) that may have significant ramifications for surgery utilizing the vasculature of the abdominal wall. CTA was significantly able to detect this anomaly and aid operative planning. Preoperative CTA helps to safely identify individual vascular anatomy including rare variations.
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