The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20.7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7.4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3.72 patients per 100,000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment

Evaluation of visible spinal arteries on computed tomography angiography before and after branched stent graft repair for thoracoabdominal aortic aneurysm

Objective: The aim of this study was to evaluate the impact of intercostal and lumbar segmental arteries (SAs) detectable on computed tomography angiography (CTA) on the risk of spinal cord ischemia (SCI) in patients undergoing single-step or two-staged branched endovascular aneurysm repair (BEVAR). Methods: A retrospective analysis of patients treated with branched stent grafts for thoracoabdominal aortic aneurysm at a single institution from January 2009 to June 2015 was performed. Data including preoperative comorbidities, perioperative and aneurysm-related parameters, presence and type of endoleak, and rate of severe SCI at discharge or 30 days after the procedure were collected. Preoperative and postoperative contrast-enhanced CTA images were semiquantitatively analyzed by two independent investigators, and the number of visible SAs in the stented aorta before and after BEVAR was evaluated to find a possible correlation with severe SCI. Results: Seventy-seven patients were treated for thoracoabdominal aortic aneurysm with BEVAR (47 men; mean age, 71.0 years), 40 (51.9%) of them with temporary aneurysm sac perfusion (TASP; open branch/TASP group) and 37 without (single-step group). The groups were comparable regarding parameters related to the patient, aneurysm type, and endovascular procedure. Severe SCI or paraplegia was observed in 10 patients (12.3%), and SCI was lower in the open branch/TASP group (2/40) compared with the single-step group (8/37; P = .032). The number of visible SAs in the intentionally overstented aortic segment was significantly reduced on postoperative CTA (10.0 vs 15.57 SAs; P < .001) in comparison to preoperative CTA imaging, with similar results in the open branch/TASP group (9.48 vs 15.83 SAs) and the single-step group (10.57 vs 15.30 SAs; P < .001 for both groups). Within the open branch/TASP group, more visible SAs were detected during the TASP interval in comparison to postoperative CTA after side branch completion (12.93 vs 9.48 SAs; P < .001). Receiver operating characteristic curve analysis in the single-step group revealed a cutoff point of 15 SAs on preoperative CTA with correlation to severe SCI (P = .006). In the high-risk subgroup of patients with 15 or more overstented SAs during BEVAR, staged open branch/TASP procedures again reduced the risk of SCI in comparison to the single-step patients (1/20 vs 8/22; P = .008). Conclusions: More spinal arteries are visible during the TASP interval, supporting the open branch and TASP concept with a reduction of severe SCI during BEVAR. An intentional coverage of more than 15 SAs is related to an increased risk of SCI, and the rate of paraplegia was reduced after staged BEVAR with open branch/TASP in these high-risk patients

Midterm outcome of renal function after branched thoracoabdominal aortic aneurysm repair

Objective: The aim of this study was to investigate the incidence and impact of acute and chronic kidney dysfunction after branched endovascular aortic aneurysm repair (BEVAR) perioperatively and during follow-up. Methods: Patients with a thoracoabdominal aortic aneurysm were treated with BEVAR. Serum creatinine; estimated glomerular filtration rate at baseline, after 48 hours, at discharge, and after 1 and two years; perioperative results; and outcome during follow-up were evaluated. Results: Treatment of thoracoabdominal aortic aneurysm using BEVAR was performed in 113 patients (mean age, 71 years; 79 male) with 434 side branches and two additional fenestrations (0.46%) for renovisceral perfusion. Sixty patients (53%) underwent staged procedures with temporary aneurysm sac perfusion and secondary side branch completion. Perioperative mortality was 9 of 113 (8%). Postoperative acute kidney injury (AKI) was observed in 41 of 113 patients (36%) with recovery of renal function after 2 years in most patients. However, chronic kidney disease (CKD) stage progression after 1 and 2 years was observed in 25 of 104 patients (24%) and 17 of 52 patients (32.7%), respectively. Seven patients (6.7%) required permanent dialysis during 2 years of follow-up. Risk factors for AKI were nonstaged procedures (P = .02) and multiorgan failure (P = .01). CKD progression was related to renal branch reinterventions (P = .047), all branch reinterventions (P = .03), and postoperative AKI (P = .001). During follow-up, survival was decreased in patients with AKI, especially in those with nonmalignant diseases (P = .01). Conclusions: Postoperative AKI after BEVAR was observed in about one-third of patients associated with increased CKD stages after 2 years. Preoperative CKD was not a risk factor for postoperative AKI or perioperative outcome. The prevention of AKI by staged procedures, early interventions for renal side branch complications, and regular surveillance is recommended to improve outcomes

Treatment of end-stage peripheral artery disease by neuromodulation

Background: Neuromodulation is a therapeutic option to improve limb salvage in end-stage peripheral arterial disease (PAD), but there is no consensus on its indication for spinal cord stimulation (SCS) in PAD patients. Objective: The aim of this study was to present the outcome of end-stage PAD patients treated with SCS. Methods: This study is a retrospective analysis based on a local prospective registry. Neuromodulation was performed if there was: 1) no revascularisation option, 2) no septicemia, 3) and Rutherford stage 4-6. The primary endpoint of the study was limb salvage. Secondary endpoints were reduction in pain or simply pain reduction pain (assessed using a visual anlog scale/VAS) and improvement in walking distance. Results: Limb salvage was reached in 30/34 patients (88%). Patients reported a significant reduction in pain on the 10-point VAS scale from baseline (median = 7.5, IQR = 7-8) to follow-up at 2 years (median = 0, IQR 0-2.75), p < 0.001. Walking distance also improved from preoperative (median = 50 m, IQR = 20-50 m) to follow-up at 2 years (median = 150 m, IQR 50-272 m), p < 0.001. Results: SCS implantation in patients with end-stage PAD can enable limb salvage in a high percentage of cases and increase mobility due to pain reduction. The role of microcirculation in these improvements needs to be investigated in further studies. Keywords: Neuromodulation; chronic critical limb ischemia; end-stage peripheral artery disease; spinal cord stimulation