Aneurisma aórtico torácico com trombose associada em Bugio-preto (Alouatta caraya) / Thoracic aortic aneurysm with associated thrombosis in black-and-gold howler monkey (Alouatta caraya)

O aneurisma é uma dilatação anormal e permanente das artérias, resultante do enfraquecimento da parede do vaso adelgaçamento da camada média e enfraquecimento da camada elástica. Em animais, a maioria dos casos de aneurisma tem origem idiopática e são detectados acidentalmente durante a necropsia. O objetivo deste trabalho é relatar um caso de aneurisma aórtico com trombose associada em Bugio-preto(Alouatta caraya), bem como seus aspectos patológicos. O animal era adulto, macho, pertencente ao Centro Nacional de Primatas (CENP), na cidade de Ananindeua-PA, foi encaminhado para exame necroscópico para investigação da causa mortis. No histórico do animal, não constava qualquer enfermidade. O animal apresentava bom escore de condição corporal com preservação da topografia anatômica dos órgãos. Entretanto, observou-se presença de aumento de volume localizado em aorta torácica, a 1,4 cm da base do coração. Na abertura aórtica foi observado dilatações de tamanhos variados e, no interior da maior dilatação, notou-se uma estrutura de coloração vermelho escuro, aderida, de aspecto seco e superfície áspera, medindo 1,5 cm. Aneurismas aórticos em primatas não humanos não são comuns, porém já foram reportados na literatura. O diagnóstico precoce utilizando exames complementares é importante, porém, ainda há recursos não empregados na rotina veterinária tornando ainda mais difícil o diagnóstico e prevenção. Por isso, na medicina veterinária, os aneurismas são detectados acidentalmente durante a necropsia. Com base nos achados anatomopatológicos, concluiu-se que o animal veio a óbito por trombose associada a aneurisma aórtico.

An aneurysm is an abnormal and permanent dilation of the arteries, resulting from the weakening of the vessel wall.thinning of the middle layer and weakening of the elastic layer. In animals, most cases of aneurysm are idiopathic. This paper aimed to report a case of aortic aneurysm with associated thrombosis in a black-and-gold howler monkey(Alouatta caraya), as well as its pathological aspects. The animal was an adult, male, belonging to the National Primate Center (CENP), in the city of Ananindeua-PA, that was referred for necroscopic examination to investigate the causa mortis. In the animal's history, there was no disease. The animal had a good body condition score with preservation of the anatomical topography of the organs. However, there was an increase in volume located in the thoracic aorta, 1.4 cm from the base of the heart. In the aortic opening, dilations of different sizes were observed, and inside the largest dilatation, a structure of dark red color, adhered, with a dry appearance and rough surface, measuring 1.5 cm was noted in addition to dilations of different sizes. Inside the largest cavitation, a dark red structure was observed, adhered, with a dry appearance and rough surface, measuring 1.5 cm. Aortic aneurysms in non-human primates are incommon, but have been reported in the literature. Early diagnosis using complementary exams is important, however, there are still resources not used in the veterinary routine, making diagnosis and prevention even more difficult. Therefore, in veterinary medicine, aneurysms are accidentally detected during necropsy. Based on the anatomopathological findings, it was concluded that the animal died due to thrombosis associated with an aortic aneurysm.

Vitamin E suppresses aortic ultrastructural alterations induced by toxic doses of monosodium glutamate / La vitamina E suprime las alteraciones ultraestructurales aórticas inducidas por dosis tóxicas de glutamato monosódico

SUMMARY: An association between certain food additives and chronic diseases is reported. Current study determined whether administering toxic doses of the food additive monosodium glutamate (MSG) into rats can induce aortopathy in association with the oxidative stress and inflammatory biomarkers upregulation and whether the effects of MSG overdose can be inhibited by vitamin E. MSG at a dose of (4 mg/kg; orally) that exceeds the average human daily consumption by 1000x was administered daily for 7 days to the rats in the model group. Whereas, rats treated with vitamin E were divided into two groups and given daily doses of MSG plus 100 mg/ kg vitamin E or MSG plus 300 mg/kg vitamin E. On the eighth day, all rats were culled. Using light and electron microscopy examinations, a profound aortic injury in the model group was observed demonstrated by damaged endothelial layer, degenerated smooth muscle cells (SMC) with vacuoles and condensed nuclei, vacuolated cytoplasm, disrupted plasma membrane, interrupted internal elastic lamina, clumped chromatin, and damaged actin and myosin filaments. Vitamin E significantly protected aorta tissue and cells as well as inhibited MSG-induced tissue malondialdehyde (MDA), interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNF-α). The highest used vitamin E dosage was more effective. Additionally, a significant correlation was observed between the aortic injury degree and tissue MDA, TNF-α, IL-6, and superoxide dismutase (SOD) levels (p=0.001). Vitamin E effectively protects against aortopathy induced by toxic doses of MSG in rats and inhibits oxidative stress and inflammation.

RESUMEN: Se reporta una asociación entre ciertos aditivos alimentarios y enfermedades crónicas. El objetivo de este estudio fue determinar si la administración de dosis tóxicas del aditivo alimentario glutamato monosódico (MSG) en ratas puede inducir aortopatía en asociación con el estrés oxidativo y la regulación positiva de los biomarcadores inflamatorios y si el efecto de una sobredosis de MSG se puede inhibir con vitamina E. Se administró MSG diariamente durante 7 días una dosis de (4 g/kg; por vía oral) que excede el consumo diario humano promedio, en 1000x a las ratas del grupo modelo. Mientras que las ratas tratadas con vitamina E se dividieron en dos grupos y se administraron dosis diarias de MSG más 100 mg/kg de vitamina E o MSG más 300 mg/kg de vitamina E. Todas las ratas fueron sacrificadas en el octavo día. Usando exámenes de microscopía óptica y electrónica, se observó una lesión aórtica profunda en el grupo modelo demostrada por una capa endotelial dañada, células musculares lisas degeneradas (SMC) con vacuolas y núcleos condensados, citoplasma vacuolado, membrana plasmática rota, lámina elástica interna interrumpida, cromatina agrupada y filamentos de actina y miosina dañados. La vitamina E protegió significativamente el tejido y las células de la aorta, además de inhibir el malondialdehído tisular (MDA) inducido por MSG, la interleucina-6 (IL-6) y el factor de necrosis tumoral alfa (TNF-α). La dosis más alta de vitamina E utilizada fue más efectiva. Además, se observó una correlación significativa entre el grado de lesión aórtica y los niveles tisulares de MDA, TNF-α, IL-6 y superóxido dismutasa (SOD) (p=0,001). La vitamina E efectivamente protege contra la aortopatía inducida por dosis tóxicas de MSG en ratas e inhibe el estrés oxidativo y la inflamación.

Diagnóstico y manejo del síndrome aórtico agudo / Diagnostic and management of acute aortic syndrom

El síndrome aórtico agudo incluye un grupo de patologías graves de la aorta, con una mortalidad hasta del 90% en los primeros 40 días tras el inicio de los síntomas. Según la localización de la lesión el tratamiento puede ser médico o quirúrgico, el cual ha demostrado mejorar el pronóstico de estos pacientes tanto a corto como a largo plazo. El diagnóstico oportuno es esencial para incrementar la supervivencia y disminuir la tasa de complicaciones relacionadas; no obstante, debido a la baja incidencia y presentación clínica en ocasiones inespecífica, l diagnóstico puede retrasarse u obviarse, ocasionando consecuencias catastróficas para los pacientes. Este artículo se centrará en el abordaje diagnóstico del síndrome aórtico agudo tipo A, además de ofrecer una breve revisión respecto al tratamiento médico y quirúrgico de estas patologías.

Acute aortic syndrome includes a group of serious aortic pathologies, with a mortality rate of up to 90% in the first 40 days after the onset of symptoms. Depending on the location of the lesion, the treatment will be medical or surgical which has been shown to improve the prognosis of these patients both in the short- and long-term. Timey diagnosis is essential to increase survival and decrease the rate of related complications; however, due to the low incidence and sometimes non-specific clinical picture, the diagnosis can be delayed or missed, leading to catastrophic consequences for the patients. This article will focus on the diagnostic approach of type A acute aortic syndrome, in addition to offering a brief review regarding the medical and surgical treatment of these pathologies.

Advancement in endovascular therapy of aortoiliac occlusive disease / 中华外科杂志

Aortoiliac occlusive disease (AIOD) refers to the stenosis and occlusion of the distal abdominal aorta and(or) bifurcation of the aortoiliac artery,which is mainly caused by atherosclerosis,leading to pelvic and lower limb ischemia.Open surgery has always been the main treatment for complex AIOD.However,in recent years,with the development of endovascular surgery technologies and medical instruments,its treatment concept has been greatly changed.More and more clinical evidence has proved that the long-term efficacy of endovascular therapy is not inferior to that of traditional open surgery,so minimally invasive endovascular therapy has become the preferred treatment for AIOD.

Endovascular Repair of Primary Thoracic Aortic Mural Thrombus Following Upper Limb Embolization

Abstract We report the case of a 41-year-old female who presented with left upper limb embolization due to primary thoracic aortic mural thrombus; this latter represented an uncommon condition with difficult diagnosis and a high rate of life-threatening complications. Upper extremities embolization is extremely rare because it usually occurs in the lower limbs. Management strategy is still controversial, and no clear guidelines indicate superiority of either conservative or invasive treatment approach to date. Our report illustrates how endovascular exclusion of thoracic aortic mural thrombus has the advantage to be a low-risk procedure that represents a definitive therapy.

Trombosis aórtica en tres pacientes con COVID-19 / Aortic thrombosis in three patients with COVID-19

Resumen En el curso de la pandemia por COVID-19, se ha observado un aumento de casos de patología trombótica, particularmente en pacientes que cursan con neumonías y formas graves de la enfermedad. Con mayor frecuencia se ha descrito la trombosis venosa profunda y el tromboembolismo pulmonar, no obstante, también se han reportado casos de trombosis aórtica y de otras arterias. La fisiopatología no es del todo conocida, pudiendo explicarse por la influencia de múltiples factores. Este artículo presenta tres casos clínicos de trombosis aórtica y revisa la literatura en materia del estado procoagulante asociado a la infección por COVID-19.

In the course of the COVID-19 pandemic, an increase in cases of thrombotic pathology has been observed, particularly in patients who present with pneumonia and severe forms of the disease. Deep venous thrombosis and pulmonary thromboembolism have been more frequently described. However cases of thrombosis affecting aorta and other arteries have also been reported. Its pathophysiology is not entirely known and could be explained by the influence of multiple factors. This article presents three clinical cases of aortic thrombosis and reviews the literature on the procoagulant state associated with COVID-19 infection.

Double-lumen Aortic Arch: Persistence of the Fifth Aortic Arch?

Abstract Double-lumen aortic arch is a rare congenital anomaly related to persistence of the fifth aortic arch. It may be found alone or in association with other anatomical changes of the heart. We report a case of double-lumen aortic arch associated with coarctation of the aorta and patent ductus arteriosus in a child with a congenital malformation known as the VACTERL association (vertebral defects, imperforate anus, cardiopathy, tracheoesophageal fistula, renal abnormalities and limb anomalies).

Válvula aórtica bicúspide: ¿qué debo conocer? Revisión actualizada de sus aspectos clínicos y fisiopatológicos / Bicuspid aortic valve: what should I know? Updated review of its clinical and pathophysiological aspects

Resumen La válvula aórtica bicúspide es la cardiopatía congénita más frecuente en la población general. Lejos de ser solo una malformación valvular inocua, supone una enfermedad compleja y heterogénea. A menudo es identificada como un hallazgo incidental en personas sanas, cursando de manera asintomática. Sin embargo, en un alto porcentaje de pacientes conduce a lo largo de su vida a complicaciones valvulares (estenosis, insuficiencia, endocarditis) o aórticas (dilatación o disección). Con frecuencia estas manifestaciones suceden a una edad temprana y causan una elevada morbimortalidad. A pesar de que en los últimos años se ha producido una intensa investigación en este campo, la fisiopatogenia de la enfermedad no es del todo conocida y muchas preguntas siguen abiertas. En este artículo se revisan de forma actualizada los aspectos clínicos y fisiopatológicos más novedosos y relevantes sobre esta cardiopatía congénita.

Abstract The most common congenital heart disease in the general population is the bicuspid aortic valve. Far from being just a harmless valve malformation, it is a complex and heterogeneous disease. It is often identified as an incidental finding in healthy people. However, in a high percentage of patients it leads throughout their life towards valvular (stenosis, insufficiency, endocarditis) or aortic (dilatation or dissection) complications. Frequently, manifestations occur at an early age, being responsible for high morbidity and mortality. Even though in recent years intense research has been carried out in this field, the pathophysiogenesis of the disease is not fully known and many questions remain open. In this article, we review the most innovative and relevant clinical and pathophysiological aspects of this congenital heart disease.

The role of thoracic endovascular aortic repair (tevar) of thoracic aortic diseases in patients with connective tissue disorders - a literature review

Abstract Objective: To review the currently available literature to define the role of thoracic endovascular aortic repair (TEVAR) in patients with connective tissue disorders (CTD). Methods: A comprehensive electronic database search was performed in PubMed, SCOPUS, Embase, Google scholar, and OVID to identify all the articles that reported on outcomes of utilizing TEVAR in patients with CTD during elective and emergency settings. The search was not limited to time or language of the published study. Results: All the relevant studies have been summarized in its correspondence section. The outcomes were analyzed in narrative format. The role of TEVAR has been elaborated as per each study. Currently, there is limited large cohort size studies outlining the use of TEVAR in patients with CTD. The use of endovascular repair in patients with CTD is limited due to progressive aortic dilatations and high possibility of further reinterventions at later stage of life. Conclusion: Open repair remains the gold standard method of intervention in young patients with progressive CTD, especially in the setting of acute type A aortic dissection. However, TEVAR can be sought as a reliable alternative in emergency setting of diseases involving the descending thoracic aorta; yet the long-term data needs to be published to support such practice.

Hemorragia digestiva masiva por fístulas secundarias de grandes vasos al tracto digestivo / Massive digestive hemorrhage from secondary fistulas of great vessels to the digestive tract

RESUMEN La formación de una fístula entre arterias de gran calibre y el tubo digestivo es una complicación infrecuente de la cirugía reconstructiva de los grandes vasos sanguíneos secundario al uso de prótesis vasculares, los cuales se manifiestan con hemorragias masivas con elevada mortalidad. Presentamos dos casos de fístula aorto-entérico y de fístula carotideo-esofágico que comparten características comunes como la manifestación clínica de hemorragia digestiva masiva y mortal en pacientes con antecedentes de colocación de prótesis vasculares.

ABSTRACT The formation of a fistula between large caliber arteries and the digestive tract is an uncommon complication of reconstructive surgery of the large vessels secondary to the use of vascular prostheses, which manifest themselves with massive hemorrhages with high mortality. We report two cases of aorto-enteric fistula and carotid-esophageal fistula that share common characteristics such as the clinical manifestation of massive and fatal gastrointestinal bleeding in patients with a history of vascular prosthesis placement.

Fístula aorto-duodenal primaria: caso clínico / Primary aorto-duodenal fistula: clinical case

Resumen Introducción Las fístulas aorto-entéricas (FAE) son una causa infrecuente de hemorragia digestiva. El pronóstico, generalmente ominoso, depende de una alta sospecha clínica y diagnóstico oportuno. Caso clínico Reportamos el caso de una mujer de 66 años intervenida por un aneurisma sacular aórtico abdominal (AAA) yuxtarrenal, con rotura contenida, fistulizado al duodeno. Presentó una hemorragia digestiva en el preoperatorio; sin embargo, el diagnóstico de la fístula se hizo en el intraoperatorio. La paciente fue sometida a reparación quirúrgica urgente con instalación de una prótesis aórtica bifemoral y resección duodenal. En el postoperatorio inmediato presentó una trombosis parcial de las ramas de la prótesis aórtica e isquemia de extremidades, siendo reintervenida exitosamente. Discusión La FAE es una causa potencialmente fatal de hemorragia digestiva. El diagnóstico continúa siendo un desafío debido a su presentación inespecífica y siempre debiese ser considerado frente a una hemorragia digestiva sin causa aparente. Existen varias opciones para el enfrentamiento quirúrgico que deben ser analizadas caso a caso, sin retrasar la reparación de la fístula. Es preferible la resección duodenal ante la simple duodenorrafia.

Introduction Aorto-enteric fistulae (AEF) are a rare cause of gastrointestinal bleeding. The prognosis tends to be ominous, depending greatly in a high level of clinical suspicion and prompt diagnosis. Clinical case We report a case of a 66-year-old female with a saccular juxta-renal abdominal aortic aneurysm (AAA), with a contained rupture. The patient was urgently submitted to surgical repair using an bifemoral aortic prosthesis. A duodenal partial resection was performed. During the immediate postoperative time she presented partial thrombosis of prosthesis and ischemia of lower extremities so she was reoperated successfully. Discussion AEF is a potentially fatal cause of gastrointestinal bleeding. Diagnosis is still troublesome due to its vague presentation and it should always be considered when facing gastrointestinal haemorrhage with no apparent cause. There are several surgical approaches that should be pondered case to case without delaying the repair of the defect.

Vanadium inhibits Type 2 diabetes mellitus-induced aortic ultrastructural alterations associated with the Inhibition of dyslipidemia and biomarkers of inflammation in rats / El vanadio inhibe las alteraciones ultraestructurales aórticas inducidas por la diabetes mellitus Tipo 2 asociadas con la inhibición de la dislipidemia y los biomarcadores de inflamación en ratas

The potential inhibitory effect of the insulin mimicking agent, vanadium on type 2 diabetes mellitus (T2DM)induced alterations to the aorta ultrastructure associated with the suppression of dyslipedima and biomarkers of inflammation has not been investigated before. Therefore, we tested whether vanadium can protect against aortic injury induced secondary to T2DM possibly via the inhibition of blood lipid and inflammatory biomarkers. T2DM was induced in rats by a high-fat diet and streptozotocin (50 mg/ kg), and the treatment group started vanadium treatment five days post diabetic induction and continued until being sacrificed at week 10. Using light and electron microscopy examinations, we observed in the model group substantial damage to the aorta tissue such as damaged endothelium, degenerative cellular changes with vacuolated cytoplasm and thickened internal elastic lamina that were substantially ameliorated by vanadium. Administration of vanadium to diabetic rats also significantly (p<0.05) reduced blood levels of glucose, hyperlipidemia and biomarkers of inflammation (TNF-a, IL-6). We conclude that vanadium protects against T2DM-induced aortic ultrastructural damage in rats, which is associated with the inhibition of blood sugar and lipid and inflammatory biomarkers.

El potencial efecto inhibidor del agente imitador de la insulina, el vanadio en las alteraciones inducidas por la diabetes mellitus tipo 2 (DM2) en la ultraestructura de la aorta, asociada con la supresión de dislipidemia y los biomarcadores de inflamación no se ha investigado anteriormente. El objetivo fue estudiar las propiedades del vanadio para proteger contra la lesión aórtica inducida a la DM2, a través de la inhibición de los lípidos sanguíneos y los biomarcadores inflamatorios. La DM2 fue inducida en ratas con una dieta alta en grasas y estreptozotocina (50 mg / kg), y el grupo de tratamiento fue sometido a un régimen continuo con vanadio, cinco días después de la inducción diabética hasta ser sacrificadas en la semana 10. Se utilizaron exámenes de luz y microscopía electrónica en el grupo modelo y se observó un daño sustancial al tejido de la aorta, como también en el endotelio; los cambios celulares degenerativos con citoplasma vacuolado y lámina elástica interna engrosada mejoró sustancialmente con vanadio. La administración de vanadio a ratas diabéticas también redujo significativamente (p <0,05) los niveles sanguíneos de la glucosa, hiperlipidemia y los biomarcadores de inflamación (TNFa, IL-6). En conclusión, el vanadio protege contra el daño ultraestructural aórtico inducido por T2DM en ratas, que es asociado con la inhibición del azúcar en la sangre y los biomarcadores de lípidos y de inflamatorios.

Aortic Arch Calcification on Routine Chest Radiography is Strongly and Independently Associated with Non-Dipper Blood Pressure Pattern / A Calcificação no Arco Aórtico na Radiografia de Tórax de Rotina está Forte e Independentemente Associada ao Padrão Não-Dipper de Pressão Arterial

Abstract Background: Non-dipper blood pressure (NDBP) is one of the important causes of hypertension-related target organ damage and future cardiovascular events. Currently, there is no practical tool to predict NDBP pattern. Objectives: The aim of this study was to investigate the relationship between aortic arch calcification (AAC) on chest radiography and NDBP pattern. Methods: All patients referred for ambulatory BP monitoring test were approached for the study participation. NDBP was defined as the reduction of ≤10% in nighttime systolic BP as compared to the daytime values. AAC was evaluated with chest radiography and inter-observer agreement was analyzed by using kappa statistics. Univariate and multivariate logistic regression analysis was conducted to assess the association of AAC and NDBP pattern. A 2-tailed p-value < 0.05 was considered statistically significant. Results: A total of 406 patients (median age: 51.3) were included. Of these, 261(64%) had NDBP pattern. Overall, the prevalence of AAC was 230 (57%). Non-dipper group had significantly higher prevalence of AAC (70% vs. 33%, p < 0.0001) as compared to the dipper group. Presence of AAC was a strong and independent predictor of NDBP pattern (OR 3.919, 95%CI 2.39 to 6.42) in multivariate analysis. Conclusions: Presence of AAC on plain chest radiography is strongly and independently associated with the presence of NDBP pattern.

Resumo Fundamento: A pressão arterial não-dipper é uma das causas mais importantes de lesão de órgão-alvo da hipertensão e de eventos cardiovasculares futuros. Atualmente, não há uma ferramenta prática para prever o padrão não-dipper de pressão arterial. Objetivos: O objetivo deste estudo foi investigar a relação entre a calcificação no arco aórtico detectada no raio de tórax e o padrão não-dipper de pressão arterial. Métodos: Todos os pacientes encaminhados para monitorização ambulatorial da pressão arterial foram abordados para participação no estudo. A pressão arterial não-dipper foi definida como a redução de ≤10% da pressão arterial sistólica noturna quando comparada com os valores diários. A calcificação no arco aórtico foi avaliada através de radiografia do tórax e a concordância interobservador foi analisada utilizando a estatística kappa. Análises de regressão logística uni e multivariada foram realizadas para avaliar a associação entre a calcificação no AA e o padrão PADV. Valores de p bicaudais < 0,05 foram considerados estatisticamente significativos. Resultados: Ao todo, 406 pacientes (idade mediana: 51,3) foram incluídos. Desses, 261(64%) apresentavam padrão não-dipper de pressão arterial. De modo geral, a prevalência de calcificação no arco aórtico foi de 230 (57%). O grupo não-dipper apresentou prevalência significativamente maior de calcificação no arco aórtico (70% vs. 33%, p < 0,0001) em relação ao grupo dipper. A presença de calcificação no arco aórtico foi um preditor forte e independente de padrão não-dipper de pressão arterial (OR = 3,919; IC: 95% 2,39-6,42) em análise multivariada. Conclusões: A presença de calcificação no arco aórtico em raio-x de tórax simples está forte e independentemente associada à presença de padrão não-dipper de pressão arterial.

Angiotomografía en sospecha de enfermedad oclusiva aorto-ilíaca (o síndrome de Leriche) / CT angiography for suspected aortoiliac occlusive disease (or Leriche syndrome) / Angiotomografia por suspeita de doença oclusiva aorto-ilíaca (ou síndrome de Leriche)

Introducción. El síndrome de Leriche fue definido en 1940 por René Leriche como una enfermedad oclusiva aorto-ilíaca. Su importancia radica en que ocupa el segundo lugar en incidencia dentro de las enfermedades oclusivas arteriales, después de la enfermedad de la arteria femoral superficial. Objetivo. Presentar el caso clínico de un paciente con Síndrome de Leriche cuyo diagnóstico trombótico fue confirmado por una angiotomografía computarizada con su respectiva reestructuración en 3D. Adicionalmente, se informa al lector sobre los datos propios de la patología a través de una breve revisión de la literatura. Caso clínico. Paciente masculino con síntomas clínicos agudos de enfermedad oclusiva aorto-ilíaca o síndrome de Leriche en una extremidad. Se realiza el respectivo procesamiento de imagen asistida por computador (reconstrucción tridimensional) que evidencia la patología a pesar de que la ecografía Doppler no determinó trombosis inicial. Discusión. En procesos oclusivos arteriales se emplean técnicas no invasivas como la ecografía y la angiotomografía. Sin embargo, esta última es la técnica por excelencia, sobre todo para procesos trombóticos, pues agiliza la anticoagulación, así como el abordaje terapéutico. Conclusiones. La angiotomografía es una técnica no invasiva con alta sensibilidad y especificidad para detectar estenosis aorto-ilíaca. Se ha convertido en una gran herramienta diagnostica por sus alcances imagenológicos, como la obtención de imágenes iso volumétricas, que permiten evaluar todo el trayecto arterial en los diferentes planos, por medio del uso de medios de contraste, superando en resultados a la ecografía. Cómo citar: Picón-Jaimes YA, Díaz-Jurado JJ, Orozco-Chinome JE, Ramírez-Rodríguez PA, Arciniegas-Torres NA, Hernández-Sarmiento MA, Villabona-Rosales SA. Angiotomografía en sospecha de enfermedad oclusiva aorto-ilíaca (o síndrome de Leriche). MedUNAB. 2020;23(2): 301-306. doi: 10.29375/01237047.3732.

Introduction. Leriche syndrome was defined in 1940 by René Leriche as an aortoiliac occlusive disease. Its importance lies in it occupying second place in the incidence of occlusive arterial diseases, after superficial femoral artery disease. Objective. Present the clinical case of a patient with Leriche syndrome whose diagnosis of thrombosis was confirmed by a computed tomography angiography with its respective 3D reconstruction. Additionally, the reader is given information about the pathology through a brief summary of the literature. Clinical case. Male patient with acute clinical symptoms of aortoiliac occlusive disease or Leriche syndrome in one limb. The respective computer-assisted image processing (three-dimensional reconstruction) is carried out, which shows the pathology, despite the Doppler ultrasound not initially establishing thrombosis. Discussion. Non-invasive techniques are used in procedures for occlusive arteries, such as ultrasound and CT angiography. However, the latter is a technique par excellence, above all for thrombosis procedures, as well as the therapeutic approach. Conclusions. CT angiography is a non-invasive technique with high sensitivity and specificity in the detection of aortoiliac stenosis. It has become a great diagnostic tool because of its imagery scope, such as obtaining isovolumic images, which enable the assessment of the entire arterial route in different planes, through the use of contrast media, producing more results than the ultrasound. Cómo citar: Picón-Jaimes YA, Díaz-Jurado JJ, Orozco-Chinome JE, Ramírez-Rodríguez PA, Arciniegas-Torres NA, Hernández-Sarmiento MA, Villabona-Rosales SA. Angiotomografía en sospecha de enfermedad oclusiva aorto-ilíaca (o síndrome de Leriche). MedUNAB. 2020;23(2): 301-306. doi: 10.29375/01237047.3732.

Introdução. A síndrome de Leriche foi definida em 1940 por René Leriche como uma doença oclusiva aorto-ilíaca. Sua importância reside no fato de ocupar o segundo lugar em incidência dentro das doenças arteriais obstrutivas, após a doença na artéria femoral superficial. Objetivo. Apresentar o caso clínico de um paciente com síndrome de Leriche cujo diagnóstico trombótico foi confirmado por uma angiotomografia computadorizada (angio-TC) com reestruturação em 3D. Adicionalmente, o leitor é informado sobre os dados próprios da patologia através de uma breve revisão de literatura. Caso clínico. Paciente de sexo masculino com sintomas clínicos agudos da doença oclusiva aorto-ilíaca ou síndrome de Leriche em uma extremidade. Foi realizado o processamento da imagem assistida por computador (reconstrução tridimensional), evidenciando a patologia, ainda que a ultrassonografia Doppler não determinou trombose inicial. Discussão. Em processos oclusivos arteriais são utilizadas técnicas não invasivas como a ultrassonografia e a angiotomografia. No entanto, a angiotomografia é a técnica padrão ouro, principalmente para processos trombóticos, pois acelera a anticoagulação e a abordagem terapêutica. Conclusão. A angiotomografia é uma técnica não invasiva com alta sensibilidade e especificidade para detectar estenose aorto-ilíaca. Tornou-se uma ótima ferramenta de diagnóstico por suas características imagenológicas, como a obtenção de imagens isovolumétricas que permitem avaliar todo o trajeto arterial nos diferentes planos, através do uso de meios de contraste, superando os resultados da ultrassonografia. Cómo citar: Picón-Jaimes YA, Díaz-Jurado JJ, Orozco-Chinome JE, Ramírez-Rodríguez PA, Arciniegas-Torres NA, Hernández-Sarmiento MA, Villabona-Rosales SA. Angiotomografía en sospecha de enfermedad oclusiva aorto-ilíaca (o síndrome de Leriche). MedUNAB. 2020;23(2): 301-306. doi: 10.29375/01237047.3732.

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.