Placca aterosclerotica: ruolo dei CD66B

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Placca aterosclerotica: ruolo dei CD66B

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

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

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

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

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

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

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

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