Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.

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.

Outcome following a negative CT Angiogram for gastrointestinal hemorrhage.

OBJECTIVE: This study was designed to evaluate the role of a negative computed tomography angiogram (CTA) in patients who present with gastrointestinal (GI) hemorrhage. METHODS: A review of all patients who had CTAs for GI hemorrhage over an 8-year period from January 2005 to December 2012 was performed. Data for patient demographics, location of hemorrhage, hemodynamic stability, and details of angiograms and/or the embolization procedure were obtained from the CRIS/PACS database, interventional radiology database, secure electronic medical records, and patient's clinical notes. RESULTS: A total of 180 patients had 202 CTAs during the 8-year period: 87 CTAs were performed for upper GI hemorrhage (18 positive for active bleeding, 69 negative) and 115 for lower GI hemorrhage (37 positive for active bleeding, 78 negative); 58.7 % (37/63) of patients with upper GI bleed and 77.4 % (48/62) of patients with lower GI bleed who had an initial negative CTA did not rebleed without the need for radiological or surgical intervention. This difference was statistically significant (p = 0.04). The relative risk of rebleeding, following a negative CTA, in lower GI bleeding versus upper GI bleeding patients is 0.55 (95 % confidence interval 0.32-0.95). CONCLUSIONS: Patients with upper GI bleed who had negative CTAs usually require further intervention to stop the bleeding. In contrast, most patients presenting with lower GI hemorrhage who had a negative first CTA were less likely to rebleed.

Lung Cancer Assistant: a hybrid clinical decision support application for lung cancer care.

Multidisciplinary team (MDT) meetings are becoming the model of care for cancer patients worldwide. While MDTs have improved the quality of cancer care, the meetings impose substantial time pressure on the members, who generally attend several such MDTs. We describe Lung Cancer Assistant (LCA), a clinical decision support (CDS) prototype designed to assist the experts in the treatment selection decisions in the lung cancer MDTs. A novel feature of LCA is its ability to provide rule-based and probabilistic decision support within a single platform. The guideline-based CDS is based on clinical guideline rules, while the probabilistic CDS is based on a Bayesian network trained on the English Lung Cancer Audit Database (LUCADA). We assess rule-based and probabilistic recommendations based on their concordances with the treatments recorded in LUCADA. Our results reveal that the guideline rule-based recommendations perform well in simulating the recorded treatments with exact and partial concordance rates of 0.57 and 0.79, respectively. On the other hand, the exact and partial concordance rates achieved with probabilistic results are relatively poorer with 0.27 and 0.76. However, probabilistic decision support fulfils a complementary role in providing accurate survival estimations. Compared to recorded treatments, both CDS approaches promote higher resection rates and multimodality treatments.

Surveillance after endovascular abdominal aortic aneurysm repair.

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.

High-frequency jet ventilation under general anesthesia facilitates CT-guided lung tumor thermal ablation compared with normal respiration under conscious analgesic sedation.

PURPOSE: To determine whether technical difficulty of computed tomography (CT)-guided percutaneous lung tumor thermal ablations is altered with the use of high-frequency jet ventilation (HFJV) under general anesthesia (GA) compared with procedures performed with normal respiration (NR) under conscious sedation (CS). MATERIALS AND METHODS: Thermal ablation treatment sessions performed with NR under CS or HFJV under GA with available anesthesia records and CT fluoroscopic images were retrospectively reviewed; 13 and 33 treatment sessions, respectively, were identified. One anesthesiologist determined the choice of anesthesiologic technique independently. Surrogate measures of procedure technical difficulty--time duration, number of CT fluoroscopic acquisitions, and radiation dose required for applicator placement for each tumor--were compared between anesthesiologic techniques. The anesthesiologist time and complications were also compared. Parametric and nonparametric data were compared by Student independent-samples t test and χ(2) test, respectively. RESULTS: Patients treated with HFJV under GA had higher American Society of Anesthesiologists classifications (mean, 2.66 vs 2.23; P = .009) and smaller lung tumors (16.09 mm vs 27.38 mm; P = .001). The time duration (220.30 s vs 393.94 s; P = .008), number of CT fluoroscopic acquisitions (10.31 vs 19.13; P = .023), and radiation dose (60.22 mGy·cm vs 127.68 mGy·cm; P = .012) required for applicator placement were significantly lower in treatment sessions performed with HFJV under GA. There was no significant differences in anesthesiologist time (P = .20), rate of pneumothorax (P = .62), or number of pneumothoraces requiring active treatment (P = .19). CONCLUSIONS: HFJV under GA appears to reduce technical difficulty of CT-guided percutaneous applicator placement for lung tumor thermal ablations, with similar complication rates compared with treatment sessions performed with NR under CS. The technique is safe and may facilitate treatment of technically challenging tumors.

Appropriate patient selection in the management of common bile duct stones: when not to do ERCP.

Background. Magnetic resonance cholangiopancreatography (MRCP) is noninvasive and accurate for diagnosing intra common bile duct stones (ICSs). However, given limited access, routine utilisation for investigating all patients with gallstone disease is neither practical nor cost-effective. Conversely, many individuals proceed directly to endoscopic retrograde cholangiopancreatography (ERCP), an invasive test with appreciable complications. Aim. Identify factors associated with ICS in order to improve risk-stratification for MRCP/ERCP. Methods. All patients having undergone cholecystectomy between November 2007 and October 2008 were reviewed. High-risk features for ICS were predefined, and their true presence confirmed by ERCP or intraoperative cholangiogram. Multivariate logistic regression was performed on candidate risk features. Results. Of 231 patients, 10.4% had ICS. Defining a high-risk group with "both" biochemical and ultrasound risk factors predicted ICS with 92% specificity and also bore strong association (OR 8.88). However, isolated hyperbilirubinaemia, ultrasound impression of CBD stones, and clinical risk factors did not (OR 1.10, 0.97, and 1.26). Normal liver biochemistry and normal ultrasound had a NPV of 99.5% for ICS. Conclusions. Ultrasound impression of CBD calculi without ductal dilatation is not predictive of ICS. Patients with normal liver biochemistry and normal CBD diameter on ultrasound are unlikely to have ICS and should not proceed to ERCP.

Endovascular repair of a secondary aorto-appendiceal fistula.

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.

Bacterial endocarditis and body art: active prevention or antibiotic prophylaxis.

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.

Bacterial endocarditis complicating body art.

Increasing numbers of patients are living with congenital heart disease at a time when body art is growing in popularity. We present a case of subacute bacterial endocarditis following repeated tattooing in a patient with known valvular heart disease. This case highlights the importance of education of patients with structural heart disease to the potential risks of such procedures, particularly at a time when endocarditis prophylaxis protocols are being revised.