Long noncoding RNA AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway.

Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder, and most of LDS patients will develop into aortic aneurysm. Unfortunately, there is no known cure, and a high risk of death from aortic aneurysm rupture. However the detailed mechanism is still unknown. In order to explore the mechanism, we firstly used bioinformatics to predict, and then verified with biology methods. Firstly, we found that LncRNA AK056155 was differentially expressed in peripheral blood circulating endothelial cells between normal patients and LDS patients by bioinformatics. Then we further verified that AK056155 was also overexpressed in aortic aneurysm patients by RT-PCR. Moreover, we demonstrated that the expression of AK056155 can be enhanced by TGF-ß1 in a concentration or time depended manner in HUVECs by RT-PCR. Furthermore, the expression of AK056155 was reduced with treatment of PI3K inhibitor (LY294002) or AKT inhibitor (GDC-0068) in combination with TGF-ß1. These results indicate that AK056155 involved in the development of Loeys-Dietz syndrome through AKT/PI3K signaling pathway, it may provide a promising target gene to prevent LDS develop in to aortic aneurysm.

Serological follow-up in patients with aorto-iliac disease and evidence of Q fever infection.

The aim of this study was to provide data on the risk of developing chronic Q fever in patients with aorto-iliac disease and evidence of previous Q fever infection. Patients with an aortic and/or iliac aneurysm or aorto-iliac reconstruction (aorto-iliac disease) and evidence of previous Q fever infection were included. The presence of phase I and II Coxiella burnetii IgG antibodies was assessed periodically using immunofluorescence assay. A total of 111 patients with aorto-iliac disease were divided into three groups, based upon the serological profile [mean follow-up: 16 ± 9 months (mean ± standard deviation)]. Group 1 consisted of 30 patients with a serological trace of C. burnetii infection (negative IgG phase I, IgG phase II titer of 1:32). Of these, 36.7% converted to serological profile matching past resolved Q fever. Group 2 included 49 patients with negative IgG phase I titer and IgG phase II titer ≥1:64. No patients developed chronic Q fever, but 14.3% converted to a positive IgG phase I titer. Group 3 consisted of 32 patients with positive IgG phase I and positive IgG phase II titers, of which 9.4% developed chronic Q fever (significantly different from group 2, p = 0.039). The IgG phase I titer increased in 28.1% of patients (from 1:64 to 1:4,096). The risk of developing chronic Q fever in patients with aorto-iliac disease and previous Q fever infection with a positive IgG phase I titer was 9.4%. The IgG phase I titer increases or becomes positive in a substantial number of patients. A standardized serological follow-up is proposed.

Increased plasma levels of metalloproteinase-9 and neutrophil gelatinase-associated lipocalin in a rare case of multiple artery aneurysm.

Matrix metalloproteinase-9 (MMP-9) is involved in the remodeling process by degrading extracellular matrix, which is fundamental in maintaining structural integrity and favorable mechanical properties of the artery vascular wall. Neutrophil gelatinase-associated lipocalin (NGAL) seems to enhance MMP-9 activity. ELISA test was used to evaluate plasma MMP-9 and NGAL values. Moreover, Western blot analysis and RT-PCR were used to evaluate expression of MMP-9 and NGAL in aneurysmatic tissue with respect to healthy endothelial tissue of the same patient. In this rare case of abdominal aortic aneurysm associated with multiple peripheral aneurysms, both plasma and tissue levels of MMP-9 and NGAL seemed to correlate with disease progression. More studies and clinical trials are necessary to confirm our findings.

Investigation and treatment of a complicated inflammatory aortoiliac aneurysm.

Inflammatory abdominal aortic aneurysms (IAAAs) account for 5% to 10% of all abdominal aortic aneurysms, occurring primarily in males. Their true etiology is unknown. Symptoms and signs of IAAA are so variable that they present to a wide range of specialties. There is debate in the literature whether IAAA is a manifestation of systemic autoimmune disease. We describe the case of a young female patient with complicated inflammatory aortoiliac aneurysmal disease, illustrating diagnostic and treatment challenges that remain. Our patient had a positive autoantibody screen, raised erythrocyte sedimentation rate, positive enzyme-linked immunosorbent spot test, and saccular aneurysms, including infective and inflammatory etiologies in her differential diagnosis. Early diagnosis is crucial to limit disease progression, morbidity, and mortality. Medical management is important to address the underlying disease process, but a combination of endovascular and open surgical intervention is often necessary for definitive treatment. Available evidence offers plausibility for benefit of endovascular intervention over open repair.

Blood cell telomere length among patients with an isolated popliteal artery aneurysm and those with multiple aneurysm disease.

OBJECTIVES: Short relative telomere length (RTL) is associated with vascular ageing, inflammation and cardiovascular risk factors. Previous studies have reported an association between abdominal aortic aneurysm and short RTL. The presence of atherosclerosis among patients with aneurysm disease may, however, be a confounder. The aim was to explore the associations between short RTL and aneurysm disease, by comparing patients with isolated popliteal artery aneurysms with those having multiple aneurysms. DESIGN AND PATIENTS: DNA was retrieved from 183 patients with popliteal artery aneurysm (PAA). They were all examined with ultrasound at the time of blood-sampling, and had a total of 423 aneurysms (range 1-7, mean 2.3/patient). METHODS: TL was measured with Real-Time PCR, RTL was calculated by comparing with three reference populations. RESULTS: Patients with bilateral PAAs had a mean RTL of 0.985 vs. 1.038 with unilateral PAAs (P = 0.326). Patients with abdominal aortic aneurysm had RTL 1.035, vs. 0.999 without (P = 0.513). No difference was seen with or without femoral or iliac aneurysms. Fifty-six patients with isolated PAA at surgery and at re-examination had RTL 0.974, vs. 1.033 who had >1 aneurysm (P = 0.308). RTL was not associated with the number of aneurysms at re-examination (P = 0.727, one-way ANOVA). There was a trend towards shorter RTL among active smokers (0.93 vs. 1.04, P = 0.066). CONCLUSIONS: No association between short RTL and multiple aneurysm disease was found. The previously reported association between AAA and short RTL may be secondary to cardiovascular risk factors, rather than by aneurysm disease.

Histopathology of an iliac aneurysm in a case of Menkes disease.

In Menkes disease, arterial tortuosity is frequent, whereas true aneurysms are rare. Here, we report aneurysmal pathology occurring in an infant with Menkes disease. An iliac aneurysm was diagnosed in a 2-month-old boy and attributed to Menkes syndrome on the basis of plasma copper deficiency. Samples of the aneurysmal wall were taken during surgery for histopathological analysis. As in other forms of aneurysm, the arterial wall was characterized by smooth muscle cell (SMC) disappearance, linked to SMC apoptosis and oxidative stress, areas of mucoid degeneration, and extracellular matrix breakdown, including disappearance of elastic fibers and presence of abnormal collagen.