Deficient cholesterol and/or excessive 7-dehydrocholesterol (7-DHC) may be responsible for the pathology of SmithLemli-Opitz syndrome (SLOS). Both high-cholesterol diets given to ameliorate cholesterol deficiency while decreasing 7-DHC and cholesterol-enriched diets plus simvastatin to further decrease sterol synthesis have been used as potential therapies. However, the effect of dietary cholesterol and simvastatin on cholesterol synthesis in SLOS has not been reported. Twelve subjects with SLOS enrolled in the study: Nine had received a high cholesterol diet (HI) for 3 y and three were studied after 4 wk on a low cholesterol diet (LO). Cholesterol fractional synthesis rate (FSR) was measured after oral administration of deuterium oxide, using gas chromatography isotope ratio mass spectrometry. FSR was lower in HI compared with LO (HI: 1.46 Ϯ 0.62%/d; LO: 4.77 Ϯ 0.95%/d; p Ͻ 0.001). Three HI subjects were retested after 0.8 y taking simvastatin (HI ϩ ST). Simvastatin tended to reduce FSR and significantly decreased (p Ͻ 0.01) plasma 7-DHC compared with cholesterol supplementation alone. The study demonstrates the utility of the deuterium incorporation method to understand the effect of therapeutic interventions in SLOS. The data suggest that dietary cholesterol supplementation reduces cholesterol synthesis in SLOS and further support the rationale for the combined treatment of SLOS with a cholesterol-enriched diet and simvastatin. (Pediatr Res 65: 681-685, 2009)

The care of pregnant women with bladder exstrophy requires multidisciplinary management and careful delivery planning. Successful vaginal delivery can be attained in these patients.

No abstract

Background:The recently described "Covered Endovascular Reconstruction of the Aortic Bifurcation (CERAB)" technique challenges the role of open surgical bypass in the treatment of aorto-iliac occlusive disease. Complications and mortality after aortobi-femoral bypass have remained stable over the last three decades despite declining caseloads but there are few contemporary outcomes to enable direct comparison. We present 10 years of consecutive patients treated with aorto-bi-femoral bypass at a single tertiary centre.Methods: A retrospective review was performed of prospectively maintained operating theatre logbooks. Notes were reviewed to ascertain the indication for surgery in addition to demographic data. Cross-sectional pre-operative imaging was reviewed to determine the extent of the disease according to the TASC-II classification. Primary endpoints were graft patency and survival. Secondary endpoints were reinterventions, immediate and delayed complications. Results: Between 2004 and 2015, 185 patients (61% male) with peripheral vascular disease (51% Fontaine Class 2b, 25% Class 3, 21% Class 4) were treated. The median age was 62 years (range 37-82). 58% were current smokers, 41% ex-smokers. 26% had undergone previous attempts at treatment (42/49 by endovascular means). Lesion morphology characterised by CT angiography included 1 TASC-II A, 9 TASC-II B, 25 TASC-II C and 97 TASC-II D lesions. Median follow up was 67 months. Thirty-day mortality was 4.3%. There were 28 major complications (15%), including 7 early limb occlusions requiring reintervention. Patency was 94% at 1 year, 88% at 3 years, 82% at 5 years and 79% at 10 years. In 31% of cases the limbs of the graft were landed distal to the common femoral artery. To date there have been 9 cases of graft infection, 5 requiring explantation. Survival was 94%, 81% and 64% at 1, 5 and 10 years respectively. Conclusions: Open surgery cannot compete with low 30-day morbidity and mortality rates reported with endovascular techniques. However, patency in our series exceeds much of the historical literature for this procedure despite the graft landing distal to the common femoral artery in one third of patients. Comparing our data to the available 1 and 2-year CERAB patency rates, our rates exceed endovascular patency by over 5% at both 1 and 3 years. Secondary patency for CERAB can be obtained but longer-term follow-up for endovascular techniques have yet to be reported. The "Gold Standard" remains a subject for debate.

Renal artery aneurysm (RAA) is a rare clinical entity with an incidence rate of 0.1%. Clinically, only one-third of patients are symptomatic and growth rate has been reported to be slow. Elective management of RAA is only recommended if the size is >2cm in diameter. However, in cases of an acute rupture, mortality is 10%. We present an image of interest of an emergency ruptured renal artery aneurysm managed endovascularly.