| 1. |
- Osoegawa, K., et al.
(author)
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Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
- 2008
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 45:2, s. 81-86
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Journal article (peer-reviewed)abstract
- Aim and method: We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Results: Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the DiGeorge syndrome region. Eighteen of the syndromic cases had clinical features of Van der Woude syndrome and deletions were identified in five of these, all of which encompassed the interferon regulatory factor 6 (IRF6) gene. In a series of 104 non-syndromic cases we found one subject with a 3.2 Mb deletion at chromosome 6q25.1-25.2 and another with a 2.2 Mb deletion at 10q26.11-26.13. Analyses of parental DNA demonstrated that the two deletion cases at 22q11.21 and 6q25.1-25.2 were de novo, while the deletion of 10q26.11-26.13 was inherited from the mother, who also has a cleft lip. These deletions appear likely to be causally associated with the phenotypes of the subjects. Estrogen receptor 1 (ESR1) and fibroblast growth factor receptor 2 (FGFR2) genes from the 6q25.1-25.2 and 10q26.11-26.13, respectively, were identified as likely causative genes using a gene prioritisation software. Conclusion: We have shown that array-CGH analysis of DNA samples derived from cleft lip and palate subjects is an efficient and productive method for identifying candidate chromosomal loci and genes, complementing traditional genetic mapping strategies.
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| 2. |
- Veith, Frank J., et al.
(author)
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Collected world and single center experience with endovascular treatment of ruptured abdominal aortic aneurysms
- 2009
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In: Annals of Surgery. - 0003-4932 .- 1528-1140. ; 250:5, s. 818-824
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Journal article (peer-reviewed)abstract
- BACKGROUND: Case and single center reports have documented the feasibility and suggested the effectiveness of endovascular aneurysm repair (EVAR) of ruptured abdominal aortic aneurysms (RAAAs), but the role and value of such treatment remain controversial. OBJECTIVE: To clarify these we examined a collected experience with use of EVAR for RAAA treatment from 49 centers. METHODS: Data were obtained by questionnaires from these centers, updated from 13 centers committed to EVAR treatment whenever possible and included treatment details from a single center and information on 1037 patients treated by EVAR and 763 patients treated by open repair (OR). RESULTS: Overall 30-day mortality after EVAR in 1037 patients was 21.2%. Centers performing EVAR for RAAAs whenever possible did so in 28% to 79% (mean 49.1%) of their patients, had a 30-day mortality of 19.7% (range: 0%-32%) for 680 EVAR patients and 36.3% (range: 8%-53%) for 763 OR patients (P < 0.0001). Supraceliac aortic balloon control was obtained in 19.1% +/- 12.0% (+/-SD) of 680 EVAR patients. Abdominal compartment syndrome was treated by some form of decompression in 12.2% +/- 8.3% (+/-SD) of these EVAR patients. CONCLUSION: These results indicate that EVAR has a lower procedural mortality at 30 days than OR in at least some patients and that EVAR is better than OR for treating RAAA patients provided they have favorable anatomy; adequate skills, facilities, and protocols are available; and optimal strategies, techniques, and adjuncts are employed.
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| 3. |
- Willems, M. C. M., et al.
(author)
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Assessing endovascular skills using the Simulator for Testing and Rating Endovascular Skills (STRESS) machine
- 2009
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In: European Journal of Vascular and Endovascular Surgery. - : Elsevier BV. - 1078-5884 .- 1532-2165. ; 37:4, s. 431-6
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Journal article (peer-reviewed)abstract
- OBJECTIVES: Endovascular techniques are an integral part of modern-day vascular surgery practice and training. Nevertheless, validated in vitro assessment tools for these skills are scarce. This study describes the development and pilot testing of the Simulator for Testing and Rating Endovascular Skills (STRESS machine). DESIGN: The design was kept straightforward and compact, without the need for contrast or fluoroscopy. A specific technical skill score was designed analogous to the Imperial College Evaluation of Procedural Skill (ICEPS), an assessment score for open surgical skill. This score was combined with an already validated global rating assessment to form the total score (TS). METHODS: A pilot study was carried out on 18 candidates of varying levels of expertise: novice, intermediate and expert, who were assessed by two independent observers to test inter-observer reliability. RESULTS: Inter-observer reliability was excellent, Cronbach's alpha coefficient of the TS was 0.94 (95% confidence interval: 0.84-0.97). A one-way analysis of variance (ANOVA) showed a significant difference between the novice and expert groups (p<0.001), between the novice and intermediate groups (p<0.01) and between the intermediate and expert groups (p<0.05). CONCLUSION: The STRESS machine, in combination with the specific technical skill score and global rating assessment, provides a reliable method of discriminating between the novice, intermediate and expert candidates with excellent inter-observer variability.
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