76 research outputs found

    Endovascular repair of abdominal infrarenal penetrating aortic ulcers: a prospective observational study.

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    Abstract Objective Penetrating atherosclerotic ulcer generally occurs in elderly patients with systemic atherosclerosis, predominantly in the descending thoracic aorta, and it is uncommon in the infrarenal aorta. We reviewed our experience of endovascular treatment of penetrating aortic ulcer in the infrarenal aorta. Methods In the last 4years, out of 348 patients who underwent abdominal aortic procedures, a total of 13 patients (12 men and 1 woman) were found to have an abdominal penetrating aortic ulcer, corresponding to an incidence of 3.7%. Mean age was 73±7years. All patients had hypertension. Three lesions were discovered incidentally and 10 were symptomatic. All patients underwent endovascular treatment in the operating room. Follow-up included CT-A control at 1, 4 and 12months after the intervention, and yearly thereafter. Results Primary technical success was 100%. No postoperative death was observed. Mean operative time was 100±29min. Mean blood loss was 168±133ml. No patient required intensive care unit stay. We observed one major complication (transient ischemic attack). Mean hospital stay was 4±1days. During a mean follow-up period of 26months no endoleak, aneurysm evolution or stent graft failure was recognized in any patient. One patient died 24months after the intervention after a stroke. Conclusions In our experience, endovascular or repair of infrarenal aortic ulcer appears feasible, and midterm results satisfactory

    Complications after endovascular stent-grafting of thoracic aortic diseases

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    BACKGROUND: To update our experience with thoracic aortic stent-graft treatment over a 5-year period, with special consideration for the occurrence and management of complications. METHODS: From December 2000 to June 2006, 52 patients with thoracic aortic pathologies underwent endovascular repair; there were 43 males (83%) and 9 females, mean age 63 ± 19 years (range 17–87). Fourteen patients (27%) were treated for degenerative thoracic aortic aneurysm, 12 patients (24%) for penetrating aortic ulcer, 8 patients (15%) for blunt traumatic injury, 7 patients (13%) for acute type B dissection, 6 patients (11%) for a type B dissecting aneurysm; 5 patients (10%) with thoraco-abdominal aortic aneurysms were excluded from the analyses. Fifteen patients (32%) underwent emergency treatment. Overall, mean EuroSCORE was 9 ± 3 (median 15, range 3–19). All procedures were performed in the theatre under general anesthesia. All complications occurring during hospitalisation were recorded. Follow-up protocol featured CT-A, and chest X-rays 1, 4 and 12 months after intervention, and annually thereafter. RESULTS: Primary technical success was achieved in all patients; procedures never aborted because of access difficulty. Conversion to standard open repair was never required. Mean duration of the procedure was 119 ± 75 minutes (median 90, range 45–285). Mean blood loss was 254 mL (range 50–1200 mL). The mean length of the aorta covered by the SGs was 192 ± 21 mm (range 100–360). The LSA was over-stented in 17 cases (17/47, 36%). Overall 30-day operative mortality was 6.4% (3/47). Major complications included pneumonia (n = 9), cerebrovascular accidents (n = 4), arrhythmia (n = 4), acute renal failure (n = 3), and colic ischemia (n = 1). Overall, endoleak rate was 14%. CONCLUSION: Although this report is a retrospective and not comparative analysis of thoracic aortic repair, the combined minor and major morbidity rate was lower than previous reported to results of either electively and emergency performed conventional repair

    Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

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    Acknowledgements This research was funded by the Swiss National Science Foundation (Grant #176097 to CR). We would like to express gratitude to the patients and all their family members that participated in this study for their valuable cooperation and participation.Peer reviewedPublisher PD

    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

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    Funding Information: We would like to thank all of the participating families. We are also grateful to the Swiss Confederation for the award of a PhD fellowship to AUR, to Mashhad University of Medical Sciences for supporting part of the work, in the framework of the PhD thesis of AS, to the Swiss National Science Foundation for grant # 176097 to CR, and to the Fondation Guillaume Gentil for support to ASF.Peer reviewedPublisher PD

    SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

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    Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

    Demographic, clinical, and service-use characteristics related to the clinician’s recommendation to transition from child to adult mental health services

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    Purpose: The service configuration with distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) may be a barrier to continuity of care. Because of a lack of transition policy, CAMHS clinicians have to decide whether and when a young person should transition to AMHS. This study describes which characteristics are associated with the clinicians’ advice to continue treatment at AMHS. Methods: Demographic, family, clinical, treatment, and service-use characteristics of the MILESTONE cohort of 763 young people from 39 CAMHS in Europe were assessed using multi-informant and standardized assessment tools. Logistic mixed models were fitted to assess the relationship between these characteristics and clinicians’ transition recommendations. Results: Young people with higher clinician-rated severity of psychopathology scores, with self- and parent-reported need for ongoing treatment, with lower everyday functional skills and without self-reported psychotic experiences were more likely to be recommended to continue treatment. Among those who had been recommended to continue treatment, young people who used psychotropic medication, who had been in CAMHS for more than a year, and for whom appropriate AMHS were available were more likely to be recommended to continue treatment at AMHS. Young people whose parents indicated a need for ongoing treatment were more likely to be recommended to stay in CAMHS. Conclusion: Although the decision regarding continuity of treatment was mostly determined by a small set of clinical characteristics, the recommendation to continue treatment at AMHS was mostly affected by service-use related characteristics, such as the availability of appropriate services
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