ABSTRACT
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.
ABSTRACT
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.
Subject(s)
Aorta, Abdominal , Aortic Aneurysm, Abdominal/surgery , Endovascular Procedures , Population Surveillance , Postoperative Complications/diagnosis , Aneurysm, Ruptured/diagnosis , Aneurysm, Ruptured/prevention & control , Diagnostic Imaging , Humans , Postoperative Complications/prevention & control , Prosthesis FailureSubject(s)
Aneurysm/surgery , Aortic Aneurysm/surgery , Endovascular Procedures/methods , Femoral Artery , Gelatin Sponge, Absorbable/therapeutic use , Iliac Artery , Aged , Aged, 80 and over , Hemostatic Techniques/instrumentation , Humans , Male , Punctures , Suture Techniques , Ultrasonography, Interventional , Vascular Surgical Procedures/methodsABSTRACT
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.
Subject(s)
Aortic Diseases/surgery , Appendix , Cecal Diseases/surgery , Endovascular Procedures , Intestinal Fistula/surgery , Postoperative Complications , Vascular Fistula/surgery , Aged, 80 and over , Aortic Aneurysm, Abdominal/surgery , Aortic Diseases/diagnostic imaging , Aortic Diseases/etiology , Appendix/diagnostic imaging , Cecal Diseases/diagnostic imaging , Cecal Diseases/etiology , Humans , Intestinal Fistula/diagnostic imaging , Intestinal Fistula/etiology , Male , Radiography , Vascular Fistula/diagnostic imaging , Vascular Fistula/etiologyABSTRACT
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.
