Endothelial Progenitor Cells and NADPH Oxidase Enzyme Activity in the Development of an Aortic Aneurysm

Abstract Introduction: Endothelial progenitor cells (EPCs) and nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme activity may affect the vessel wall and have a role in development of aortic aneurysms. EPCs originate from hematopoietic stem cells and can be enumerated from peripheral blood samples by flow cytometry. In this study, we aimed to evaluate the relation of EPC number and NADPH oxidase enzyme activity in the development of thoracic aortic aneurysm (TAA). Methods: Patients with TAA (n=30) and healthy individuals without TAA (control, n=10) were included in our study. Characterization and enumeration of EPC from peripheral blood samples were performed by flow cytometry with panels including markers of EPCs (CD34/CD133/CD309/CD146/CD144). Additionally, NADPH oxidase enzyme activity (capacity) was also measured by the dihydrorhodamine 123 (DHR 123) test. Results: The enumeration of EPC with CD34+/CD146+ marker showed that the number of mean EPC/106 cells was increased in the patient group (41.5/106 cells), but not in the control group (20.50/105 cells) (P<0.01). Additionally, patients with TAA presented significantly lower NADPH oxidase activity by DHR assay than healthy controls (mean stimulation index: 60.40± 7.86 and 75.10±5.21, respectively) (P<0.01). Conclusion: Our results showed that the number of EPCs is significantly higher in aortic aneurysm patients and may have a role in disease progression. The crosstalk between NADPH oxidase enzyme capacity and EPC number may be useful as a parameter to explain the clinical progression of TAA.

Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China / 南方医科大学学报

OBJECTIVE@#To explore genetic mutation types and their correlation with clinical phenotypes in Uighur patients with aortic disease in Kashgar (Xinjiang Uighur Autonomous Region, China).@*METHODS@#We examined 37 pathogenic genes in 19 Uighur families with aortic diseases including Marfan syndrome from Kashgar using next generation sequencing, and the results were confirmed by Sanger sequence in the first relatives.@*RESULTS@#This study included 19 families with aortic diseases, in whom a total of 23 variants were identified, and 11 (57.89%) probands had one or more variants. Among them, definite pathogenic mutation was detected in one patient (5.26%), variants of uncertain significance (VUS) were found in 8 (42.11%), and benign/likely benign variants were detected in 7 (36.84%). The 23 variants identified included one (5.26%) pathogenic variant, 14 (60.87%) VUS, and 8 (34.78%) benign/likely benign variants. The 14 VUS were analyzed by prediction with SIFT and Polyphen2 HDIV, which identified 6 (42.86%) variants as deleterious/possibly damaging; all the 8 benign/likely benign variants were predicted to be deleterious/possibly damaging.@*CONCLUSIONS@#We detected 23 genetic variants in the 19 Uighur families with aortic diseases, and 22 of these variants remain to be verified by more patient data in future studies.

The role of transthoracic echocardiogram in a case of aortic thoracic aneurysm / El papel del ecocardiograma transtorácico en un caso de aneurisma de la aorta torácica

Abstract: The aorta can be affected by a variety of pathologic processes leading to aneurysm, dissection, or ischemic syndromes. The term aneurysm referring to dilatation, the criterion for definition is controversial. An aneurysm is defined as a 50% enlargement of the normal aorta for a particular body surface area, age, and gender. Another proposed definition depends on the affected segment having a diameter more than 1.5 to 2.0 times normal and represents a pathologically dilated segment of the aorta that has the propensity to expand and rupture. The maximum diameter of the thoracic aorta should not exceed 40 mm. The aorta is a geometrically complex and dynamic evaluation structure is not simple. The aortic aneurysms are associated with degenerative changes, congenital anomalies, inflammatory, micotic, traumatic, or post-stenotic process. The majority of ascending aortic aneurysms are detected as incidental. Echocardiography is the most useful tool for diagnostic evaluation, etiology, progression, risk of rupture, need for intervention and response to treatment of thoracic aneurysms. The predicted aortic root diameter or PARD, the diameter ratio, area height ratio, expansion rate and Z-score; improve the detection and limit the error rates so we must apply them routinely in the echocardiographic examination of patients with suspected or diagnosed aortic aneurysm. Echocardiographic evaluation of the aorta should not be limited to simply measuring the diameter.(AU)

Resumen: La aorta puede afectarse por una variedad de procesos patológicos que conducen al desarrollo de aneurismas, disección o de síndromes isquémicos. El término aneurisma hace referencia a una dilatación, el criterio de definición es polémico. Un aneurisma se establece como un incremento del 50% de las dimensiones normales aórticas para una determinada superficie corporal, edad y género. Otra definición propuesta depende de que el segmento afectado tenga un diámetro de 1.5 a 2.0 veces por encima del normal y representa un segmento aórtico con dilatación patológica que tiene la propensión a la expansión y a la ruptura. El diámetro máximo de la aorta torácica no debe superar los 40.0 mm. La aorta es una estructura geométricamente compleja y dinámica cuya evaluación no es simple. Los aneurismas aórticos están asociados con cambios degenerativos, anomalías congénitas, procesos inflamatorios, micóticos, traumáticos o postestenóticos. La mayoría de los aneurismas de la aorta ascendente se detectan de manera incidental. La ecocardiografía es la herramienta más útil para la evaluación diagnóstica, etiológica, de progresión, del riesgo de ruptura, intervención y en la respuesta al tratamiento de los aneurismas torácicos. El diámetro de la raíz aórtica predicho o DRAP, la relación del diámetro, la proporción de altura-área, la tasa de expansión y el score-Z, mejoran la detección y delimitan la tasa de error por lo que su aplicación debe ser rutinaria en la ecocardiografía transtorácica de aquellos pacientes con sospecha o diagnóstico de aneurisma aórtico. La evaluación ecocardiográfica de la aorta no se debe limitar a la simple medición del diámetro.(AU)

Merits and Demerits of the Reversed Elephant Trunk Technique Based on Experiences with 6 Cases / 日本心臓血管外科学会雑誌

We encountered 6 cases of descending or thoracoabdominal aortic aneurysm operation with reversed elephant trunk (R-ET). R-ET was originally developed by Dr. Carrel in order to circumvent the dissection of the proximal anastomotic site from surrounding organs such as the lung, recurrent nerve, phrenic nerve, and esophagus in the future proximal aortic replacement. Three of 6 patients underwent a 2nd operation (total arch replacement). Distal anastomosis was easy and safe. One patient had multiple cerebral infarction and died after the second operation, but no patient suffered from complications derived from injury to the lung, esophagus, recurrent nerve or phrenic nerve. During outpatient follow-up, 1 patient who had suffered from paraparesis after the 1st operation died of repture of an arch aneurysm before the 2nd operation could be. Thrombosis was found between the inside and outside grafts of R-ET in 2 patients, who had been implanted with Gelweave prosthesis. There were no negative events caused by the thrombus. One patient with the thrombus underwent total arch replacement. We removed the fibrin-like thrombus from the R-ET prosthesis under endoscopic visualization without any complication. R-ET is a very easy and useful technique, but one should exert care about the thrombus formation around the R-ET.