RESUMO
Primary coenzyme Q10 deficiency-7 (COQ10D7) is a rare mitochondrial disease caused by biallelic mutations in COQ4. Here we report the largest cohort of COQ10D7 to date, with 11 southern Chinese patients confirmed with biallelic COQ4 mutations. Five of them have the classical neonatal-onset encephalo-cardiomyopathy, while the others have infantile onset with more heterogeneous clinical presentations. We also identify a founder mutation COQ4 (NM_016035.5): c.370G>A, p.(Gly124Ser) for COQ10D7, suggesting a higher chance of occurrence in the southern Chinese. This study helps improve understanding of the clinical spectrum of this disorder.
RESUMO
Surveillance after endovascular abdominal aortic aneurysm repair (EVAR) is widely considered mandatory. The purpose of surveillance is to detect asymptomatic complications, so that early secondary intervention can prevent late aneurysm rupture. CT angiography has been taken as the reference standard imaging test, but there is increasing interest in using other modalities to reduce the use of ionising radiation and iodinated contrast. As a result, there is wide heterogeneity in surveillance strategies used among EVAR centres. We reviewed the current evidence available on the outcomes of different imaging modalities and surveillance strategies following EVAR.
Assuntos
Aorta Abdominal , Aneurisma da Aorta Abdominal/cirurgia , Procedimentos Endovasculares , Vigilância da População , Complicações Pós-Operatórias/diagnóstico , Aneurisma Roto/diagnóstico , Aneurisma Roto/prevenção & controle , Diagnóstico por Imagem , Humanos , Complicações Pós-Operatórias/prevenção & controle , Falha de PróteseAssuntos
Aneurisma/cirurgia , Aneurisma Aórtico/cirurgia , Procedimentos Endovasculares/métodos , Artéria Femoral , Esponja de Gelatina Absorvível/uso terapêutico , Artéria Ilíaca , Idoso , Idoso de 80 Anos ou mais , Técnicas Hemostáticas/instrumentação , Humanos , Masculino , Punções , Técnicas de Sutura , Ultrassonografia de Intervenção , Procedimentos Cirúrgicos Vasculares/métodosRESUMO
Aortoenteric fistula (AEF) is an uncommon but serious complication occurring after aortic surgery and may occur at any site in the gastrointestinal tract, with the duodenum being the most common. Conventional surgical repair of secondary AEF has high mortality, whereas endovascular repair has emerged as an alternative treatment despite concerns about persistent or recurrent infection. We report the case of a 91-year old man who was admitted with rectal bleeding from an aorto-appendiceal fistula 9 years after open abdominal aortic aneurysm repair. This rare site for AEF was diagnosed on computed tomography, and we present the first case of endovascular treatment of this uncommon complication.
Assuntos
Doenças da Aorta/cirurgia , Apêndice , Doenças do Ceco/cirurgia , Procedimentos Endovasculares , Fístula Intestinal/cirurgia , Complicações Pós-Operatórias , Fístula Vascular/cirurgia , Idoso de 80 Anos ou mais , Aneurisma da Aorta Abdominal/cirurgia , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/etiologia , Apêndice/diagnóstico por imagem , Doenças do Ceco/diagnóstico por imagem , Doenças do Ceco/etiologia , Humanos , Fístula Intestinal/diagnóstico por imagem , Fístula Intestinal/etiologia , Masculino , Radiografia , Fístula Vascular/diagnóstico por imagem , Fístula Vascular/etiologiaRESUMO
Bacterial endocarditis complicating body piercing and tattooing is uncommon but increasing number of cases are being reported. Active prevention of this condition with significant morbidity and mortality requires cardiologists, patients and body art professionals to work together through education and guidance. The role of antibiotic prophylaxis in this situation remains unclear in the light of recently revised guidelines from the American Heart Association.