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- Crona, Joakim, et al.
(författare)
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Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing
- 2013
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 98:7, s. E1266-E1271
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Tidskriftsartikel (refereegranskat)abstract
- Context: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with either somatic or germline mutations in established PCC and PGL susceptibility loci. Most unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signaling pathway. Mutations in RAS subtypes H, K, and N are common in human cancers; however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL. Objectives: The aim of this study was to identify novel disease causing genes in PCC and PGL tumors. Design, setting, and participants: Four benign and sporadic PCC and PGL tumors were subjected to whole exome sequencing using the Illumina HiSeq Platform. Sequences were processed by CLC genomics 4.9 bioinformatics software and the acquired list of genetic variants was filtered against the Catalogue of Somatic Mutations in Cancer database. Findings were validated in an additional 78 PCC and PGL tumor lesions. Results: Exome sequencing identified 2 cases with somatic mutations in the H-RAS. In total, 6.9% (n = 4/58) of tumors negative for mutations in major PCC and PGL loci had mutations in H-RAS: G13R, Q61K, and Q61R. There were 3 PCC and 1 PGL; all had sporadic presentation with benign tumor characteristics and substantial increases in norepinephrine and/or epinephrine. H-RAS tumors were exclusively found in male patients (P = .007). Conclusions: We identified recurrent somatic H-RAS mutations in pheochromocytoma and paraganglioma. Tumors with H-RAS mutations had activation of the RAS/RAF/ERK signaling pathway and were associated with male PCC patients having benign and sporadic disease characteristics. H-RAS could serve as a prognostic and predictive marker as well as a novel therapeutic target.
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| 4. |
- Iderberg, Hanna, et al.
(författare)
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Predicting clinical outcome and length of sick leave after surgery for lumbar spinal stenosis in Sweden : a multi-register evaluation
- 2019
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Ingår i: European spine journal. - : Springer Science and Business Media LLC. - 0940-6719 .- 1432-0932. ; 28:6, s. 1423-1432
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Lumbar spinal stenosis (LSS) can be surgically treated, with variable outcome. Studies have linked socioeconomic factors to outcome, but no nation-wide studies have been performed. This register-based study, including all patients surgically treated for LSS during 2008-2012 in Sweden, aimed to determine predictive factors for the outcome of surgery.Methods: Clinical and socioeconomic factors with impact on outcome in LSS surgery were identified in several high-coverage registers, e.g., the national quality registry for spine surgery (Swespine, FU-rate 70-90%). Multivariate regression analyses were conducted to assess their effect on outcome. Two patient-reported outcome measures, Global Assessment of leg pain (GA) and the Oswestry Disability Index (ODI), as well as length of sick leave after surgery were analyzed.Results: Clinical and socioeconomic factors significantly affected health outcome (both GA and ODI). Some predictors of a good outcome (ODI) were: being born in the EU, reporting no back pain at baseline, a high disposable income and a high educational level. Some factors predicting a worse outcome were previous surgery, having had back pain more than 2years, having comorbidities, being a smoker, being on social welfare and being unemployed.Conclusions: The study highlights the relevance of adding socioeconomic factors to clinical factors for analysis of patient-reported outcomes, although the causal pathway of most predictors' impact is unknown. These findings should be further investigated in the perspective of treatment selection for individual LSS patients. The study also presents a foundation of case mix algorithms for predicting outcome of surgery for LSS.
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| 5. |
- Norlen, Olov, et al.
(författare)
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Outcome after resection and radiofrequency ablation of liver metastases from small intestinal neuroendocrine tumours
- 2013
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Ingår i: British Journal of Surgery. - : Oxford University Press (OUP). - 0007-1323 .- 1365-2168. ; 100:11, s. 1505-U1514
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Tidskriftsartikel (refereegranskat)abstract
- Background: In patients with small intestinal neuroendocrine tumour (SI-NET), liver resection or radiofrequency ablation (RFA) of liver metastases is performed for palliation of carcinoid syndrome, and in an effort to improve survival. Data are generally reported from case series, and no randomized trials have studied these treatments. The aim was to compare outcome after liver resection and/or RFA with that of non-surgical treatment in patients with liver metastases from SI-NET. Methods: The study included patients with liver metastases from SI-NET who underwent liver RFA/resection or were treated non-surgically. A propensity score match was performed to reduce bias between groups, using baseline variables such as the Charlson co-morbidity index, age, symptoms, carcinoid heart disease, extent of metastases and proliferation index. Results: Some 103 patients who had RFA and/or liver resection were compared with 273 controls. Propensity score matching resulted in two matched groups, each of 72 patients, with no significant differences in baseline variables. The matched resection/RFA and control groups showed no difference in overall survival (both 74 per cent at 5 years; P = 0.869) or disease-specific survival (74 versus 78 per cent respectively at 5 years; P = 1.000). However, urinary 5-hydroxyindoleacetic acid levels were lower (median 77 versus 120 mu mol per 24 h; P = 0.005) and the proportion of patients with progressive disease within the liver was smaller (2 of 18 versus 8 of 18; P < 0.001) in the resection/RFA group after 5 years. Conclusion: These data do not support the use of liver resection and/or RFA in an effort to prolong survival in patients with liver metastases from SI-NET.
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- Stalberg, Peter, et al.
(författare)
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E-mail access and improved communication between patient and surgeon
- 2008
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Ingår i: Archives of surgery (Chicago. 1960). - : American Medical Association (AMA). - 0004-0010 .- 1538-3644. ; 143:2, s. 164-8; discussion 168-9
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To examine the effectiveness of e-mail communication between surgeon and patient prior to elective surgery. DESIGN: Prospective randomized study. SETTING: Tertiary referral center. PATIENTS: One hundred consecutive patients presenting for consultation prior to undergoing thyroid or parathyroid surgery. INTERVENTION: All were randomized to either receiving an information sheet promoting e-mail communication as the preferred method of communication (group E) or a standard information sheet (group S). MAIN OUTCOME MEASURES: (1) Use of communication with the surgeon outside of the booked preoperative and postoperative consultation and (2) satisfaction questionnaire. RESULTS: Overall, 26 of 100 patients (26%) initiated additional perioperative communication with the surgeon, 19 of 50 (38%) in group E and 7 of 50 (14%) in group S (P < .001). Of those who initiated communication, 22 of 26 (84%) did so by e-mail; 3 (12%), by fax; and 1 (4%), by telephone. For patients using e-mail, 18 of 22 (81%) were in group E and 4 of 22 (18%), in group S (P < .02). Overall, 34 e-mails were sent by 22 patients in the study group. Most e-mails sent focused on only 1 issue; however, some patients raised multiple issues, with the most being 4 issues in a single e-mail. There were no differences in any of the outcome measures in relation to patient satisfaction with communication. CONCLUSION: Despite concerns about potential medicolegal issues and other disadvantages, providing patients undergoing elective surgery with e-mail access to their surgeon results in improved levels of communication without any demonstrated impairment of satisfaction with outcomes.
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