Dissecting the Genetics of Stroke

Stroke is a leading cause of death and disability in the Western world. It is a complex disease resulting from environmental factors and genetic factors, as well as gene-gene and geneenvironment interactions. Many studies have attempted to unravel the genetic aetiology of stroke, but results have been inconsistent. Most have used the candidate gene approach, but genome-wide linkage analyses have also been performed. Recently, results of genome-wide association studies have been reported, however, this approach has not yet been used to study the genetics of stroke. Stroke is a heterogeneous disease, which can be subtyped into ischaemic stroke (80%) and haemorrhagic stroke (20%), with diff erent underlying pathways. In order to reduce the complexity of stroke, intermediate phenotypes have been studied, such as hypertension, carotid atherosclerosis and cerebral white matter lesions. Another approach has been to study stroke in a genetically isolated population

Unsuccessful Stent Graft Repair of a Hepatic Artery Aneurysm Presenting with Haemobilia:Case Report and Comprehensive Literature Review

AIMS: To discuss treatment strategies for non-traumatic, non-iatrogenic hepatic artery aneurysms (HAAs) in the presence of an arteriobiliary fistula, illustrated by a case and followed by a comprehensive review of the literature. METHODS: Following the PRISMA guidelines, 24 eligible HAA cases presenting with haemobilia were identified. Characteristics of patients, aneurysms, treatment strategies and their outcomes were collected. RESULTS: A 69 year old patient with no previous hepatobiliary intervention or trauma, presented with jaundice and haemobilia caused by a HAA. Initial treatment by endovascular stenting was chosen to prevent ischaemic liver complications. Unfortunately, this strategy failed because of stent migration due to ongoing infection leading to a type 1A endoleak. The patient had to be converted to open surgery with ligation of the HAA. The patient recovered uneventfully and no complications occurred during the following 12 months. COMPREHENSIVE LITERATURE REVIEW: Of the 24 cases, nine had a true HAA and 15 were pseudo/mycotic aneurysms, mainly caused by endocarditis or cholecystitis. The majority were located in the right hepatic artery. In 20 cases, an endovascular first approach was chosen with embolisation, none with covered stents. Three of these cases had to be converted to open surgery because of rebleeding. In all open (primary or secondary) cases, ligation of the HAA was performed. One patient in these series died. No liver ischaemia or abscesses were reported, although one patient developed an ischaemic gallbladder. CONCLUSIONS: Patients who present with a HAA and haemobilia may be treated safely by embolisation or open ligation. Using a covered stent graft in these patients can cause problems due to ongoing infection and should be monitored closely by imaging. Publication bias and lack of long term follow up imply cautious interpretation of these findings

Quality of Life after Venous Stenting for Post-thrombotic Syndrome and the Effect of Inflow Disease

Objective: Patients with PTS experience an impaired quality of life (QoL). We aimed to study QoL in patients stented for post thrombotic syndrome (PTS) and analyze the influence of different parameters. Methods: Patients stented for PTS after iliofemoral deep vein thrombosis were asked to complete the Chronic Venous Disease Quality of Life Questionnaire (CIVIQ-20) and the Short Form Health Survey (SF-36) in this cross-sectional study. All other data were collected retrospectively. Primary endpoints were median CIVIQ-20 and physical (PCS) and mental (MCS) component summary SF-36 scores. The influence of age, sex, and years between the procedure and completion of questionnaire were investigated using a multivariate linear regression model. Wilcoxon signed rank test compared the PCS and MCS with the normative. Effects of inflow from the deep femoral vein (DFV) and/or the femoral vein (FV) on QoL was analyzed in patients with patent stents. Results: The response rate was 70.3% (n = 45/64). Time period (median) from stenting to questionnaire completion was 6.6 years (IQR: 8.0). Most stents were placed unilateral left-sided (73.3%). For patients with patent stents (n = 42) median CIVIQ-20 was 35.5 (IQR: 17.3), higher than the minimum of 20.0 (P < .001). Median PCS of 44.7 (IQR: 14.2) was lower (P < .001), and MCS of 55.9 (IQR: 7.1) higher (P = .001) than the normative (50.0). Time since stenting and sex were not associated with QoL. Age was a significant predictor [standardized coefficient ss = .36, P = .04] for QoL using the CIVIQ-20, but not for the SF-36. Inflow disease did not impact QoL, but patients with occluded stents (n = 3) had poor functioning levels. Conclusion: Quality of life is impaired after venous stenting for PTS, particularly physical functioning, among patients with an open stent, but was similar between patients with good and impaired inflow. Patients with a permanent stent occlusion had the lowest QoL

Quality of Life after Venous Stenting for Post-thrombotic Syndrome and the Effect of Inflow Disease

Objective: Patients with PTS experience an impaired quality of life (QoL). We aimed to study QoL in patients stented for post thrombotic syndrome (PTS) and analyze the influence of different parameters. Methods: Patients stented for PTS after iliofemoral deep vein thrombosis were asked to complete the Chronic Venous Disease Quality of Life Questionnaire (CIVIQ-20) and the Short Form Health Survey (SF-36) in this cross-sectional study. All other data were collected retrospectively. Primary endpoints were median CIVIQ-20 and physical (PCS) and mental (MCS) component summary SF-36 scores. The influence of age, sex, and years between the procedure and completion of questionnaire were investigated using a multivariate linear regression model. Wilcoxon signed rank test compared the PCS and MCS with the normative. Effects of inflow from the deep femoral vein (DFV) and/or the femoral vein (FV) on QoL was analyzed in patients with patent stents. Results: The response rate was 70.3% (n = 45/64). Time period (median) from stenting to questionnaire completion was 6.6 years (IQR: 8.0). Most stents were placed unilateral left-sided (73.3%). For patients with patent stents (n = 42) median CIVIQ-20 was 35.5 (IQR: 17.3), higher than the minimum of 20.0 (P &lt;.001). Median PCS of 44.7 (IQR: 14.2) was lower (P &lt;.001), and MCS of 55.9 (IQR: 7.1) higher (P =.001) than the normative (50.0). Time since stenting and sex were not associated with QoL. Age was a significant predictor [standardized coefficient ß =.36, P =.04] for QoL using the CIVIQ-20, but not for the SF-36. Inflow disease did not impact QoL, but patients with occluded stents (n = 3) had poor functioning levels. Conclusion: Quality of life is impaired after venous stenting for PTS, particularly physical functioning, among patients with an open stent, but was similar between patients with good and impaired inflow. Patients with a permanent stent occlusion had the lowest QoL.</p

Midterm Outcomes and Aneurysm Sac Dynamics Following Fenestrated Endovascular Aneurysm Repair after Previous Endovascular Aneurysm Repair

Objective: Fenestrated endovascular aneurysm repair (FEVAR) is a feasible option for aortic repair after endovascular aneurysm repair (EVAR), due to improved peri-operative outcomes compared with open conversion. However, little is known regarding the durability of FEVAR as a treatment for failed EVAR. Since aneurysm sac evolution is an important marker for success after aneurysm repair, the aim of the study was to examine midterm outcomes and aneurysm sac dynamics of FEVAR after prior EVAR. Methods:Patients undergoing FEVAR for complex abdominal aortic aneurysms from 2008 to 2021 at two hospitals in The Netherlands were included. Patients were categorised into primary FEVAR and FEVAR after EVAR. Outcomes included five year mortality rate, one year aneurysm sac dynamics (regression, stable, expansion), sac dynamics over time, and five year aortic related procedures. Analyses were done using Kaplan–Meier methods, multivariable Cox regression analysis, chi square tests, and linear mixed effect models. Results: One hundred and ninety-six patients with FEVAR were identified, of whom 27% (n = 53) had had a prior EVAR. Patients with prior EVAR were significantly older (78 ± 6.7 years vs. 73 ± 5.9 years, p &lt; .001). There were no significant differences in mortality rate. FEVAR after EVAR was associated with a higher risk of aortic related procedures within five years (hazard ratio [HR] 2.6; 95% confidence interval [CI] 1.1 – 6.5, p = .037). Sac dynamics were assessed in 154 patients with available imaging. Patients with a prior EVAR showed lower rates of sac regression and higher rates of sac expansion at one year compared with primary FEVAR (sac expansion 48%, n = 21/44, vs. 8%, n = 9/110, p &lt; .001). Sac dynamics over time showed similar results, sac growth for FEVAR after EVAR, and sac shrinkage for primary FEVAR (p &lt; .001). Conclusion: There were high rates of sac expansion and a need for more secondary procedures in FEVAR after EVAR than primary FEVAR patients, although this did not affect midterm survival. Future studies will have to assess whether FEVAR after EVAR is a valid intervention, and the underlying process that drives aneurysm sac growth following successful FEVAR after EVAR.</p