Reporting and analysis of sex in vascular surgery research.

OBJECTIVE: To examine sex in human vascular surgery research by quantifying the inclusion and analysis of sex-based data in high-impact vascular surgery journals. METHODS: A bibliographic review of original articles published in the European Journal of Vascular and Endovascular Surgery, Journal of Vascular Surgery, JVS: Venous and Lymphatic Disorders, Journal of Endovascular Therapy, and Annals of Vascular Surgery from January 1, 2018, to December 31, 2020, and from January 1, 2023, to December 31, 2023, was conducted. Abstracted data included sex-based data analysis, inclusion of sex as a variable in multivariable analysis, inclusion of sex as an independent variable, and a discussion of sex-based results. RESULTS: Of the 3762 articles that included human, animal, or cell subjects, 249 (6.6%) did not state sex. Of those 249 articles, 183 included human subjects, 55 included animal subjects, and 11 used cell lines as the subjects. These were removed from analysis as well as the remaining 68 articles with animal subjects. In addition, 23 researched a sex-specific pathology and were removed from analysis. Of the remaining 3422 articles included in our study, 42.3% analyzed sex, 46.9% included sex in multivariable analysis, 4.8% included sex as an independent variable, and 26.6% included a discussion of sex. There were no significant differences in all four sex variables between 2018, 2019, and 2020. Between 2018-2020 and 2023, there were significant increases in all four sex variables. Multicenter studies had significantly higher rates of independent analysis of sex over single-center studies (7.4% vs 3.3%, P < .001). There was no significant difference in independent analysis of sex between U.S.-based and non-U.S.-based studies. Only 191 articles (5.6%) had 90% or greater matching of men and women in their study. CONCLUSIONS: Equitable inclusion and analysis of sex is rare in vascular surgery research. Less than 5% of articles included an independent analysis of data by sex, and few studies included males and females equally. Clinical research is the basis for evidence-based medicine; therefore, it is important to strive for equitable inclusion, analysis, and reporting of data to foster generalizability of clinical research to men and women.

Disease-specific patient-reported quality of life after fenestrated/branched endovascular aortic aneurysm repair.

OBJECTIVES: Fenestrated-branched endovascular technology (F/B-EVAR) is increasingly used to repair complex aortic aneurysms. While reintervention, morbidity and mortality after F/B-EVAR have been well-characterized, studies on patient-reported quality of life (QOL) after F/B-EVAR have been limited in their use of non-specific instruments and measures. We report on disease-specific QOL in patients that underwent F/B-EVAR using a validated QOL survey for aortic aneurysms. METHODS: Prospectively maintained databases were used to contact living patients that underwent F/B-EVAR for pararenal or thoracoabdominal aortic aneurysms at two institutions. Eligible patients (n = 286) were asked to complete a disease-specific QOL survey previously validated in patients that underwent repair of an infrarenal abdominal aortic aneurysm. An emotional impact score (EIS) from 0-100 was derived from the survey with higher scores indicating more emotional impact and worse QOL. Respondent behavior change following F/B-EVAR was evaluated in four domains (strenuous activity, travel, heavy lifting, and sexual activity) previously identified by patients to be most impacted by an aortic aneurysm. RESULTS: In total, 234 patients (82%) completed surveys. Mean post-operative interval to survey completion was 3.4 ± 2.8 years. Mean EIS was 16 (range 0-91) for all patients surveyed, with higher mean EIS among those within the first year after F/B-EVAR (20 vs 14). Most respondents demonstrated limited adverse emotional impact after F/B-EVAR. However, the 4th quartile of EIS was broad (22-91), indicating that a subset of respondents had significantly worse QOL after repair. While most patients reported no post-procedure change in each of the activity domains, over 40% of patients did report decrease in strenuous activity and heavy lifting after F/B-EVAR. Those with decreased activity after repair had corresponding deficiencies in disease-specific knowledge for the domains of heavy lifting (P <.001) and sexual activity (P = .17). CONCLUSIONS: The majority of patients who underwent F/B-EVAR in this cohort had low emotional impact on their QOL after repair. One-quarter of patients did report significant post-procedure anxiety about their aneurysm, with improvement observed beyond one year after repair. Most patients reported unchanged or decreased activity levels following F/B-EVAR, and less aneurysm-specific patient knowledge was associated with decreased activity after repair. These findings are similar to those seen in prior work using this survey instrument in patients that underwent infrarenal aneurysm repair. This work confirms the feasibility of using this survey to evaluate QOL in patients with complex aortic disease. Longitudinal evaluation in these patients may identify those at high-risk for worse QOL after F/B-EVAR.

High incidence of type 2 endoleak and low associated adverse events in the Vascular Quality Initiative linked to Medicare claims.

INTRODUCTION: Type 2 endoleak (T2EL) is the most common adverse finding on postoperative surveillance after endovascular aortic aneurysm repair (EVAR). A low rate of aneurysm-related mortality with T2EL has been established. However, the optimal management strategy and the efficacy of reintervention remain controversial. This study used data from the Vascular Quality Initiative linked to Medicare claims (VQI-Medicare) to evaluate T2LE in a real-world cohort. METHODS: This retrospective review of EVAR procedures in VQI-Medicare included patients undergoing their first EVAR procedure between 2015 and 2017. Patients with an endoleak other than T2EL on completion angiogram and those without VQI imaging follow-up were excluded. Patients without Medicare part A or part B enrollment at the time of the procedure or without 1-year complete Medicare follow-up data were also excluded. The exposure variable was T2EL, defined as any branch vessel flow detected within the first postoperative year. Outcomes of interest were mortality, reintervention, T2EL-related reintervention, post-EVAR imaging, and T2EL behavior including spontaneous resolution, aneurysm sac regression, and resolution after reintervention. The association of prophylactic branch vessel embolization (PBE) with T2EL resolution and aneurysm sac regression was also evaluated. RESULTS: In a final cohort of 5534 patients, 1372 (24.7%) had an identified T2EL and 4162 (75.2%) did not. The median age of patients with and without T2EL was 77 and 75 years, respectively. There were no differences in mortality, imaging, reintervention, or T2EL-related reintervention at 3 years after the procedure for patients with T2EL. The aneurysm sac diameter decreased by 4 mm (range: 9-0 mm decrease) in the total cohort. Patients with inferior mesenteric artery-based T2EL had the smallest decrease in aneurysm diameter (median 1 mm decrease compared with 1.5 mm for accessory renal artery-based T2EL, 2 mm for multiple feeding vessel-based T2EL, and 4 mm for lumbar artery-based T2EL; P < .001). Spontaneous resolution occurred in 73.7% of patients (n = 809). T2ELs with evidence of multiple feeding vessels were associated with the lowest rate of spontaneous resolution (n = 51, 54.9%), compared with those with a single identified feeding vessel of inferior mesenteric artery (n = 99, 60.0%), lumbar artery (n = 655, 77.7%), or accessory renal artery (n = 31, 79.5%) (P < .001). PBE was performed in 84 patients. Patients who underwent PBE and were without detectable T2EL after EVAR had the greatest rate of sac regression at follow-up (7 mm decrease) compared with baseline. CONCLUSIONS: T2EL after EVAR is associated with high rates of spontaneous resolution, low rates of aneurysm sac growth, and no evidence of increased early mortality or reintervention. PBE in conjunction with EVAR may be indicated in some circumstances.

Development and Evaluation of an Enhanced Recovery Protocol to Reduce Length of Stay following Elective Endovascular Aneurysm Repair.

BACKGROUND: Elective endovascular abdominal aortic aneurysm repair (EVAR) can be performed safely with a short postoperative length of stay (LOS). We aimed to develop and assess the impact of an enhanced recovery protocol (ERP) on LOS after elective EVAR. METHODS: Pre-ERP development single center retrospective review of elective EVAR procedures from January 2012 to December 2019. ERP was developed by targeting factors associated with prolonged LOS (>2 days) elucidated from semistructured interviews and Bayesian additive regression tree analysis. Post-ERP development, a subsequent retrospective review of elective EVAR performed from January 2018 to June 2021 was performed to evaluate LOS before and after ERP. Primary outcome was LOS. RESULTS: Two hundred sixteen patients underwent elective infrarenal EVAR from 2012 to 2019. Periprocedural factors identified as associated with LOS >2 days included noncommercial insurance (43.6% vs. 26.5%; P = 0.01), preoperative anemia (hemoglobin 12.56 g/dL vs. 13.57 g/dL; P = 0.001), worse renal function (creatinine 1.31 mg/dL vs. 1.01/dL; P = 0.004), open femoral access (74.4% vs. 26.5%; P < 0.001), intensive care unit (ICU) stay (2.7 days vs. 0.9 days; P < 0.001), postoperative anemia (9.8 g/dL vs. 11.9 g/dL; P < 0.001), postoperative creatinine (1.55 mg/dL vs. 0.97 mg/dL; P < 0.001), and beta blocker need on discharge (45.5% vs. 25%; P = 0.003) as significant between patients with short and prolonged LOS groups. Semistructured interviews revealed postoperative day 1 complete blood count/chemistry, postoperative physical therapy evaluation, ICU admission, urinary retention, patient expectations, and unavailability of transportation home as modifiable factors that delayed early discharge. A 14-component ERP was created to target the factors identified from combined qualitative and quantitative results. Post-ERP development, 74 elective EVAR patients were reviewed from 2018 to 2021 (37 pre-ERP and 37 post-ERP). Following ERP development, the mean LOS was reduced from 2.6 (standard deviation: 1.9) to 1.3 days (standard deviation: 1.3); P < 0.01. There were no significant differences in 30-day readmission, postoperative complications, emergency room visits, or 90-day mortality before and after the ERP was used. CONCLUSIONS: Practice and procedural factors can be modified through an informed and safe process to reduce LOS after elective EVAR. LOS following elective EVAR was safely reduced following the use of a systematically developed ERP.

A Pilot Study Examining the Effects of Ischemic Conditioning on Walking Capacity and Lower Extremity Muscle Performance in Patients with Claudication.

INTRODUCTION: This study investigated whether a novel therapy called ischemic conditioning (IC) improves walking capacity and lower extremity muscle performance in patients with peripheral vascular disease who experience intermittent claudication. METHODS: Forty-three patients with claudication were enrolled and received either IC or IC Sham for 2 weeks in this randomized, controlled, double-blinded, prospective study. IC sessions involved five cycles of alternating 5-min inflations of a blood pressure cuff to 225 mm Hg (25 mm Hg for IC Sham) and 5-min deflations, around the thigh of the affected lower extremity. RESULTS: There was no difference in the change in claudication onset time (Δ = 114 ± 212 s IC vs. 104 ± 173 s IC Sham; p = 0.67) or peak walking time (Δ = 42 ± 139 s IC vs. 12 ± 148 s IC Sham; p = 0.35) between the IC and IC Sham groups. At the level of the knee, participants in the IC group performed more work (Δ = 3,029 ± 4,999 J IC vs. 345 ± 2,863 J IC Sham; p = 0.03) and displayed a greater time to muscle fatigue (Δ = 147 ± 221 s IC vs. -27 ± 236 s IC Sham; p = 0.01). DISCUSSION/CONCLUSION: In patients with claudication, IC improved total work performed and time to fatigue at the knee but did not change walking parameters.

A Single Center 8 Year Experience of Segmental Arterial Mediolysis Management.

OBJECTIVE: Segmental Arterial Mediolysis (SAM) is a rare, poorly understood vasculopathy that involves vacuolization of the arterial wall, most commonly of the visceral arteries. There are no established therapeutic or monitoring guidelines for SAM, and intervention typically depends on patient presentation. The purpose of this study is to review the management and outcomes of patients with this rare vascular disease METHODS: Single center retrospective review of patients diagnosed with SAM between 2011 and 2019. Included were patients with radiological diagnosis of SAM. Demographic factors, past medical history, presenting symptoms, affected vessels, management, and lesion characteristics over time were collected. Demographic and periprocedural factors, and medical management strategies were compared for those who required operative intervention versus those managed non-operatively. RESULTS: Thirty patients were included, 21 (70%) were male, mean age was 53.5 years (range: 35.7-72.2). Twenty-seven patients were managed non-operatively, 3 patients required surgical intervention. Patients who underwent operative intervention were more likely to present with pain >30 days (P < 0.05), and hemorrhage (P < 0.01). Abdominal pain was the most common presenting symptom (n = 24, 80%). Arterial dissection was the most common radiological finding at time of presentation (n = 20, 67%). The celiac artery and its branches were most often involved (n=22, 73%) followed by the superior mesenteric artery and its branches (n = 15, 50%). Non-operative management most often consisted of anti-hypertensive therapy (n = 13, 43%), antiplatelet agents (n = 17, 57%%), and lipid-lowering agents (n = 13, 43%), with 7 patients receiving all three. Six patients demonstrated confirmed resolution of lesions during surveillance imaging, with average time to resolution of 325.5 days. CONCLUSIONS: Patients who underwent intervention for SAM presented with either mesenteric ischemia or pseudoaneurysm rupture. In patients that present without those conditions, medical management consisting of anti-hypertensives, antiplatelet agents, and lipid-lowering therapy was effective. Non operative management resulted in symptom resolution in all patients and surveillance imaging showed resolution of radiographic abnormalities in 6 patients out of 27 at less than one year.

Variations in Courtesy Authorship Perceptions and Practices Among Modern Surgical Journals: The Generation Gap.

BACKGROUND: Academic journals have adopted strict authorship guidelines to eliminate the addition of authors who have not met criteria, also known as "courtesy authors." We sought to analyze current perceptions, practices, and academic rank-related variations in courtesy authorship use among modern surgical journals. METHODS: Authors who published original research articles in 2014-2015 in eight surgical journals were surveyed and categorized as junior (JF) or senior faculty (SF) by years in practice. Responses regarding courtesy authorship perceptions and practices were analyzed. Subanalyses were performed based on journal impact factor. RESULTS: A total of 455 authors responded (34% JF versus 66% SF). SF were older (52 versus 39 y) and more predominantly male (80% versus 61%) versus JF. JF more frequently added a courtesy author to the index publication versus SF (23% versus 13%, P = 0.02), but had similar historical rates of adding courtesy authors (58% versus 51%, P = not significant) or being added as a courtesy author (29% versus 37%, P = not significant). JF felt courtesy authorship was more common in their practice and felt more pressure by superiors to add courtesy authors. Perceptions regarding the practice of courtesy authorship differed significantly, with 70% of JF feeling courtesy authorship use has not declined versus 45% of SF (P < 0.05). Both JF and SF cited courtesy authorship positives, including avoiding author conflicts (17% versus 33%, respectively) and increasing morale (25% versus 45%, respectively). CONCLUSIONS: Courtesy authorship use continues to be common among both JF and SF. However, perceptions about the benefits, harms, and pressures vary significantly by academic rank and with journal impact factor.

Endoluminal Atherosclerotic Plaque Debulking Using Enzymatic and Ultrasonic Energy.

BACKGROUND: Current procedures to treat severe atherosclerosis are traumatic to the arterial wall and often result in restenosis due to neointimal hyperplasia. We developed a novel therapy using a specially designed double occlusion balloon catheter, ultrasonic wire, and enzymatic digestion solution to atraumatically debulk atherosclerotic plaques. MATERIALS AND METHODS: A combination of different enzymes, chemicals, and treatment conditions were evaluated for its effect at reducing atherosclerotic plaque harvested from human carotid artery endarterectomies ex vivo. The optimized digestion solution was examined in harvested intact human superficial femoral arteries in situ. A conventional Yorkshire/Landrace and a genetically modified Yucatan minipig homozygous for a nonfunctional LDLR mutation were used to evaluate the endovascular therapy in nonatherosclerotic and atherosclerotic environments in vivo. RESULTS: Ex vivo, the technology successfully digested human carotid artery plaques by 75%. In situ, the therapy successfully reduced plaque area in harvested superficial femoral arteries by 46%. In vivo, the endovascular therapy was technically feasible and demonstrated initial safety with no thrombosis, dissection, or aneurysmal dilatation in a nonatherosclerotic porcine model. In an atherosclerotic porcine model, the therapy demonstrated initial efficacy by successfully reducing atherosclerotic plaque while preserving the arterial wall with an intact internal elastic lamina. CONCLUSIONS: Using human plaque, human artery, and a normal and atherosclerotic pig model, we demonstrated that delivery of our therapy to the vasculature is technically feasible, appears safe, and shows initial efficacy. Our percutaneous plaque debulking method is a unique and promising therapy for the treatment of atherosclerosis and warrants further study.

Giant cell arteritis-related aortitis with positive or negative temporal artery biopsy: a French multicentre study.

Objective: To compare the clinical presentation and outcome of giant cell arteritis (GCA)-related aortitis according to the results of temporal artery biopsy (TAB).Method: Patients with GCA-related aortitis diagnosed between 2000 and 2017, who underwent TAB, were retrospectively included from a French multicentre database. They all met at least three American College of Rheumatology criteria for the diagnosis of GCA. Aortitis was defined by aortic wall thickening > 2 mm on computed tomography scan and/or an aortic aneurysm, associated with an inflammatory syndrome. Patients were divided into two groups [positive and negative TAB (TAB+, TAB-)], which were compared regarding aortic imaging characteristics and aortic events, at aortitis diagnosis and during follow-up.Results: We included 56 patients with TAB+ (70%) and 24 with TAB- (30%). At aortitis diagnosis, patients with TAB- were significantly younger than those with TAB+ (67.7 ± 9 vs 72.3 ± 7 years, p = 0.022). Initial clinical signs of GCA, inflammatory parameters, and glucocorticoid therapy were similar in both groups. Coronary artery disease and/or lower limb peripheral arterial disease was more frequent in TAB- patients (25% vs 5.3%, p = 0.018). Aortic wall thickness and type of aortic involvement were not significantly different between groups. Diffuse arterial involvement from the aortic arch was more frequent in TAB- patients (29.1 vs 8.9%, p = 0.03). There were no differences between the groups regarding overall, aneurism-free, relapse-free, and aortic event-free survival.Conclusion: Among patients with GCA-related aortitis, those with TAB- are characterized by younger age and increased frequency of diffuse arterial involvement from the aortic arch compared to those with TAB+, without significant differences in terms of prognosis.

There Is Limited Value in the One Month Post Endovascular Aortic Aneurysm Repair Surveillance Computed Tomography Scan.

BACKGROUND: Endovascular aortic aneurysm repair (EVAR) is the preferred first-line treatment for abdominal aortic aneurysms. Current postprocedure surveillance recommendations by manufacturers are a 1-month computed tomography angiography (CTA) followed by a 12-month CTA in most circumstances. The objective of this study is to determine the utility of the 1-month CTA following elective EVAR and determine if initial surveillance at 6-month CTA is appropriate. METHODS: A single-center retrospective chart review of all elective EVARs at a tertiary medical center over a 12-year period was conducted. Patients were excluded if postoperative surveillance imaging was not available. Data analysis encompassed demographics, chart review, and imaging including angiogram and cross-sectional imaging to asses for endoleaks and other findings. RESULTS: There were 363 patients who underwent elective EVAR and had available postoperative imaging during the study period. Within the 1-month follow-up, a CTA group of 316 patients was detected with 98 (31%) endoleaks. Of these, 5 (1.5%) required intervention: 1 for infolding of an iliac limb and 4 for type I endoleak which was present on completion angiogram-3 in patients treated outside of instructions for use and 1 with a type Ib endoleak on intraoperative completion imaging. In the 158 patients with 1 and 3-month CTAs, there were 47 persistent endoleaks, 9 previously undetected endoleaks not seen in 1-month CTA, and 13 resolved endoleaks. Three patients (1.2%) underwent intervention for type II endoleak and aneurysm expansion. In 47 patients with only a 6-month CTA, there were 16 endoleaks not seen on completion angiography and 2 of which were treated with reintervention-1 for a type I endoleak and 1 for a type II endoleak. CONCLUSIONS: There is limited utility to 1-month surveillance CTA in patients undergoing elective EVAR within the device instructions for use that has no evidence of type I endoleak on completion angiography. It is safe to start routine EVAR surveillance at 6 months in this patient population. This has implications when considering bundled and value-based payments in the longitudinal care of abdominal aortic aneurysm patients.

Aorta-innominate bypass through ministernotomy.

Atherosclerotic innominate artery occlusive disease can lead to cerebral and upper extremity ischemia. Innominate artery angioplasty and stenting can be complicated by stent fractures and restenosis; furthermore, this technique is limited in treatment of innominate artery occlusions. Ministernotomy to the second or third intercostal space can be used instead of conventional full sternotomy for open surgical revascularization of the innominate artery with excellent perioperative and long-term outcomes. This series of three consecutive patients highlights the technique of aorta-innominate artery bypass through ministernotomy.

Ten-year review of isolated spontaneous mesenteric arterial dissections.

OBJECTIVE: Isolated spontaneous dissection of the superior mesenteric artery (SMA) and celiac artery (CA) remains a rare condition; however, it has been increasingly noted incidentally on diagnostic imaging. The purpose of this study was to examine the natural history and outcomes of patients presenting with isolated spontaneous mesenteric artery dissection (SMAD). We hypothesized that most SMADs can be treated nonoperatively. METHODS: This was a single-center retrospective review of patients presenting with the diagnosis of SMAD between 2006 and 2016. Data analysis included demographics, clinical data, radiologic review, treatment, and outcomes. RESULTS: A total of 77 patients were found to have CA dissection, SMA dissection, or both in the absence of aortic dissection diagnosed on computed tomography or magnetic resonance imaging. The average age was 56 years (range, 26-86 years), 80% were male, and 10 patients (13%) had underlying connective tissue disorders. The majority, 64%, presented with symptoms including abdominal pain, back pain, and chest pain; the remaining 36% were asymptomatic. Combined SMA and CA dissection was found in 14 (18%) patients; 33 (43%) presented with isolated CA dissection, and 30 (39%) presented with isolated SMA dissection. Only four patients required intervention. Mesenteric bypass was performed in two patients, and SMA endarterectomy with patch angioplasty was performed in one patient for signs of bowel ischemia. No patient required bowel resection. The two bypasses were anastomosed to a branch of the SMA, and complete lumen restoration was seen on long-term imaging follow-up. One patient underwent stent grafting of the CA and hepatic artery for aneurysmal degeneration 1 month after diagnosis. The remaining 73 patients were managed nonoperatively; 40 (52%) were treated with a short course of anticoagulation, 23 (30%) were treated with antiplatelet therapy, and 10 (13%) were treated with observation alone. No other late interventions or recurrences were noted during a mean follow-up of 21 months. CONCLUSIONS: Whereas isolated SMAD poses a risk of visceral ischemia, most patients presenting with this diagnosis can be treated nonoperatively with a short course of antiplatelet or anticoagulant therapy. Only a small number of patients require surgical revascularization for bowel ischemia.

Impact of Body Mass Index on Outcomes after Mesenteric Revascularization for Chronic Mesenteric Ischemia.

BACKGROUND: Historically, patients with chronic mesenteric ischemia (CMI) are underweight with a low body mass index (BMI). However, with the recent obesity epidemic many of these patients now are overweight with a high BMI. We evaluated the impact of BMI on outcomes after mesenteric revascularization for CMI. METHODS: A retrospective chart review of patients undergoing open or endovascular mesenteric revascularization for CMI between January 2000 and June 2015 was performed. Demographics, comorbidities, BMI, Society for Vascular Surgery-combined comorbidity score, treatment modality, postoperative complications, reintervention, and all-cause mortality were analyzed. The primary end point for the study was all-cause mortality at 5 years. Patients were stratified using the World Health Organization BMI criteria. Univariate, Kaplan-Meier survival, and multivariate analyses were performed. RESULTS: In the study period, 104 unique patients underwent mesenteric revascularization for CMI, for 77 of whom BMI information was available. Of these 77, 30 patients were treated by endovascular revascularization, and 47 patients were treated by open revascularization. Overall, 27 (35.1%) were overweight or obese with a BMI ≥25. Median follow-up time was 41 months. High BMI patients were less likely to have weight loss at the time of surgery (P = 0.004). Stratified by BMI <25 versus BMI ≥25, 5-year survival for patients treated by open revascularization was 90% versus 50% (P = 0.02); survival for patients treated by endovascular revascularization was 27% vs. 53% (P = 0.37). Multivariate survival analysis identified active smoking, hypertensive chronic kidney disease, open repair with the use of venous conduit instead of prosthetic conduit (P < 0.001), and history of peripheral arterial disease (PAD) (P = 0.002), as independent predictors of increased all-cause mortality. CONCLUSIONS: BMI needs to be considered in assessing and counseling patients on outcomes of mesenteric revascularization for CMI, as a BMI over 25 is associated with poorer long-term survival after open revascularization. Smoking, hypertensive chronic kidney disease, PAD, and open repair with the use of venous conduit are independent predictors of long-term mortality after mesenteric revascularization independent of BMI.

Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report.

BACKGROUND: Pleuroparenchymal fibroelastosis (PPFE) is a very rare interstitial lung disease (ILD) characterized by progressive fibrotic lesions of the visceral pleura and the sub-pleural parenchyma, affecting predominantly the upper lobes. PPFE may occur in different contextes like bone marrow or lung transplantations, but also in the context of telomeropathy with mutations of telomerase reverse transcriptase (TERT), telomerase RNA component (TERC) or regulator of telomere elongation helicase 1 (RTEL1) genes. PPFE-like lesions have recently been described in patients with connective tissue disease (CTD)-related ILD. We report here the first detailed case of PPFE associated to systemic sclerosis (SSc) in a woman free of telomeropathy mutations. CASE PRESENTATION: A caucasian 46 year old woman was followed for SSc in a limited form with anti-centromere Ab since 1998, and seen in 2008 for a routine visit. Her SSc was stable, and she had no respiratory signs. Pulmonary function tests showed an isolated decreased cTLCO at 55.9% (of predicted value). Cardiac ultrasonography was normal. Thoracic CT-scan showed upper lobes predominant mild and focal pleural and subpleural thickenings, suggestive of PPFE, with a slight worsening at 8 years of follow-up. She remained clinically stable. Biology only found a moderate and stable peripheral thrombocytopenia, and sequencing analysis did not find any mutations in TERT and TERC genes. CONCLUSIONS: ILD is frequent in SSc but isolated PPFE has never been described so far. In our case, PPFE is not related to telomeropathy, has indolent outcome and seems to have good prognosis. PPFE might be an extremely rare form of SSc-related ILD, although a fortuitous association remains possible.

[Late-onset systemic sclerosis: A retrospective study of 27 patients diagnosed after the age of 70]. / Sclérodermie systémique de révélation tardive : étude rétrospective de 27 patients diagnostiqués après l'âge de 70 ans.

BACKGROUND: The aim of this study was to describe special features of patients with systemic sclerosis (SSc) diagnosed after the age of 70. PATIENTS AND METHODS: This is a retrospective study of patients aged above 70 years at the time of diagnosis of SSc and followed at an internal medicine unit between 2000 and 2015. Co-morbidities and clinical characteristics were analyzed, as well as survival at 1, 2 and 3 years. RESULTS: Of 246 patients, 27 (11%) were included (89% women, 96% Caucasians, age 78.3±4.5 years). Synchronous cancer was noted in 3 patients. SSc was mostly limited cutaneous only (24/27), with telangiectasia (63%), gastroesophageal reflux (59%) and digital ulcers (22%), and was associated with anti-centromere antibody (69%). Interstitial lung disease was not frequent (29%). Pulmonary arterial hypertension (PAH) was suspected at diagnosis of SSc in 14 cases (52%), but only 5 patients had undergone heart catheterization, with severe PAH in 3 cases. Survival at 1 and 3 years was 85.2% and 66.7%, and was worse in the case of suspected PAH, at 78.6% and 57.1% respectively. CONCLUSION: Cases of SSc diagnosed after 70 years are mostly limited cutaneous forms. Suspicion of PAH is frequent, and PAH may be the main initial sign of the disease for patients at this age. There may be association with synchronous cancer. Survival is poor.

Schnitzler syndrome: validation and applicability of diagnostic criteria in real-life patients.

BACKGROUND: Schnitzler syndrome is characterized by an urticarial rash, a monoclonal gammopathy, and clinical, histological, and biological signs of neutrophil-mediated inflammation. The aim of this study was to assess the applicability and validity of the existing diagnostic criteria in real-life patients. METHODS: This multicentric study was conducted between 2009 and 2014 in 14 hospitals in which patients with Schnitzler syndrome or controls with related disorders were followed up. We compared the sensitivities and specificities and calculated the positive and negative predictive values of the Lipsker and of the Strasbourg criteria for the patients with Schnitzler syndrome and for the controls. We included 42 patients with Schnitzler syndrome, 12 with adult-onset Still's disease, 7 with cryopyrin-associated periodic disease, 9 with Waldenström disease, and 10 with chronic spontaneous urticaria. RESULTS: All patients with Schnitzler syndrome met the Lipsker criteria. According to the Strasbourg criteria, 34 patients had definite Schnitzler syndrome, five had probable Schnitzler syndrome, and three did not meet the criteria. One control met the Lipsker criteria and had probable Schnitzler syndrome according to the Strasbourg criteria. Sensitivity and specificity of the Lipsker criteria were 100% and 97%, respectively. For the Strasbourg criteria, sensitivity for definite and probable diagnosis was 81% and 93%, respectively, with a corresponding specificity of 100% and 97%. CONCLUSION: Diagnostic criteria currently in use to diagnose Schnitzler syndrome are reliable. More investigations must be done to attest their efficiency in patients with recent-onset manifestations.

Hybrid Endovascular Aortic Aneurysm Repair: Preservation of Pelvic Perfusion with External to Internal Iliac Artery Bypass.

BACKGROUND: Diminished pelvic arterial flow as a result of intentional coverage/embolization of internal iliac arteries (IIA) during isolated endovascular common iliac artery aneurysm (CIAA) repair or endovascular repair of abdominal aortic aneurysms (EVAR) may result in symptomatic pelvic ischemia. Although generally well tolerated, in severe cases, pelvic ischemia may manifest as recalcitrant buttock claudication, vasculogenic impotence, or perineal, vesicle, rectal, and/or spinal cord ischemia. Branched graft technology has recently become available; however, many patients are not candidates for endovascular repair with these devices. Therefore, techniques to preserve pelvic arterial flow are needed. We reviewed our outcomes of isolated endovascular CIAA repair or EVAR in conjunction with unilateral external-internal iliac artery bypass. METHODS: Single-center, retrospective review of 10 consecutive patients who underwent hybrid endovascular abdominal aortic aneurysm (AAA) or CIAA repair with concomitant external-internal iliac artery bypass between 2006 and 2015. Demographics, index procedural details, postoperative symptoms, hospital length of stay (LOS), follow-up imaging, and bypass patency were recorded. RESULTS: The cohort of 10 patients was all men with a mean age of 71 years (range: 56-84). Hybrid repair consisted of contralateral IIA coil embolization followed by EVAR with external iliac artery-internal iliac artery (EIA-IIA) bypass. All EIA-IIA bypasses were performed via a standard lower quadrant retroperitoneal approach with a prosthetic bypass graft. Technical success was 100%, and there were no perioperative deaths. One patient developed transient paraplegia, 1 patient had buttock claudication on the side of his hypogastric embolization contralateral to his iliac bypass, and 1 developed postoperative impotence. 20% of patients sustained long-term complications (buttock claudication and postoperative impotence). Mean LOS was 2.8 days (range: 1-9 days). Postoperative imaging was obtained in 90% of patients, and mean follow-up was 10.8 months (range: 0.5-36 months). All bypasses remained patent. CONCLUSIONS: Although branched graft technology continues to evolve, strategies to maintain adequate pelvic circulation are necessary to avoid the devastating complications of pelvic ischemia. We have demonstrated that a hybrid approach combining EVAR or isolated endovascular common iliac artery exclusion with a unilateral external-internal iliac bypass via a retroperitoneal approach is well tolerated with a short LOS and excellent patency rates.

Comprehensive analysis of gene expression in human retina and supporting tissues.

Understanding the influence of gene expression on the molecular mechanisms underpinning human phenotypic diversity is fundamental to being able to predict health outcomes and treat disease. We have carried out whole transcriptome expression analysis on a series of eight normal human postmortem eyes by RNA sequencing. Here we present data showing that ∼80% of the transcriptome is expressed in the posterior layers of the eye and that there is significant differential expression not only between the layers of the posterior part of the eye but also between locations of a tissue layer. These differences in expression also extend to alternative splicing and splicing factors. Differentially expressed genes are enriched for genes associated with psychiatric, immune and cardiovascular disorders. Enrichment categories for gene ontology included ion transport, synaptic transmission and visual and sensory perception. Lastly, allele-specific expression was found to be significant for CFH, C3 and CFB, which are known risk genes for age-related macular degeneration. These expression differences should be useful in determining the underlying biology of associations with common diseases of the human retina, retinal pigment epithelium and choroid and in guiding the analysis of the genomic regions involved in the control of normal gene expression.

Unique B cell differentiation profile in tolerant kidney transplant patients.

Operationally tolerant patients (TOL) display a higher number of blood B cells and transcriptional B cell signature. As they rarely develop an allo-immune response, they could display an abnormal B cell differentiation. We used an in vitro culture system to explore T-dependent differentiation of B cells into plasma cells. B cell phenotype, apoptosis, proliferation, cytokine, immunoglobulin production and markers of differentiation were followed in blood of these patients. Tolerant recipients show a higher frequency of CD20(+) CD24(hi) CD38(hi) transitional and CD20(+) CD38(lo) CD24(lo) naïve B cells compared to patients with stable graft function, correlating with a decreased frequency of CD20(-) CD38(+) CD138(+) differentiated plasma cells, suggestive of abnormal B cell differentiation. B cells from TOL proliferate normally but produce more IL-10. In addition, B cells from tolerant recipients exhibit a defective expression of factors of the end step of differentiation into plasma cells and show a higher propensity for cell death apoptosis compared to patients with stable graft function. This in vitro profile is consistent with down-regulation of B cell differentiation genes and anti-apoptotic B cell genes in these patients in vivo. These data suggest that a balance between B cells producing IL-10 and a deficiency in plasma cells may encourage an environment favorable to the tolerance maintenance.