Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.

Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population data was used to calculate epidemiological figures. Results From 1998 to 2016, 17 children (<18 years) were diagnosed with MCADD including two patients whose initial presentation was fatal. The mean age at initial presentation was 1.48 years (Range: 0.005 to 2.86). The incidence was 1:71650 with mortality at 15.38%. No child subsequently died post diagnosis. The common c.985A>G mutation accounted for 88% of alleles. Conclusion The incidence of MCADD in Ireland is lower than global estimates. The potential for under-ascertainment and late diagnosis of cases exists in Ireland and is of concern for a treatable condition with a significant mortality when undiagnosed. The authors welcome the introduction of MCADD to the National Newborn Bloodspot Screening Program.

Dialysis and gel filtration of isolated low density lipoproteins do not cause a significant loss of low density lipoprotein tocopherol and carotenoid concentration.

The resistance of isolated low density lipoprotein (LDL) to copper-initiated oxidation is often used as a measure of effectiveness of an antioxidant intervention. Prior to oxidation, excess salt and EDTA are removed via dialysis or gel filtration of the LDL sample. However, there is concern over whether the antioxidant content of dialyzed or gel-filtered LDL is truly representative of native LDL extracted from a blood sample. Previously, the experiments done after the storage of native and dialyzed LDL at -80 degrees C showed that the dialysis step can cause a loss of up to 60% in the tocopherol and carotenoid content of LDL. In the present study, a comparison of the micronutrient concentration in freshly prepared dialyzed and native LDL from 35 subjects showed that after the correction for cholesterol, only lycopene (13%, P < 0.001) and to a lesser extent alpha-carotene (8%, P < 0.02) were significantly decreased, and the absolute fall in concentration was far smaller than previously reported. Other experiments done with smaller numbers of samples suggested that there were minimal micronutrient losses following gel filtration and that it was important to include 10 micromol/L EDTA in the dialysis and elution buffer; otherwise micronutrient losses did occur. In summary, immediate dialysis of freshly isolated LDL in the presence of 10 micromol/L EDTA does not cause any major loss in the concentration of tocopherol and most carotenoids.

Nonalcoholic red wine extract and quercetin inhibit LDL oxidation without affecting plasma antioxidant vitamin and carotenoid concentrations.

BACKGROUND: Antioxidant enrichment of LDL can increase its resistance to oxidation and hence reduce its atherogenicity. The objective of the present study was to investigate whether in vivo supplementation with nonalcoholic red wine extract and quercetin can increase the oxidative resistance of LDL, and also whether the supplementation has any effect on other antioxidative micronutrients present in the blood. METHODS: Twenty-one male subjects were supplemented with a placebo drink for 2 weeks and randomized into two groups. One group (n = 11) received the red wine extract (1 g/day, equivalent to 375 mL of red wine) and the other group (n = 10) quercetin (30 mg/day) for 2 weeks, followed by a 5-week washout period. RESULTS: In the red wine extract-supplemented group, ex vivo copper-initiated oxidation of LDL (lag phase, mean +/- SD) was 40 +/- 11 min at the baseline, and increased significantly to 47 +/- 6 min [P <0.05 compared with placebo (38 +/- 4 min) and the washout values (40 +/- 5 min)]. In the quercetin-supplemented group, the lag phase was 44 +/- 11 and 40 +/- 5 min for the baseline and placebo, respectively, and increased significantly to 51 +/- 7 min [P <0.05 compared with placebo and washout (41 +/- 9 min)] after supplementation. Plasma lipids (triglycerides, total cholesterol, LDL- and HDL-cholesterol) did not change during the study period. Supplementation with red wine extract or quercetin had no effect on plasma vitamin C and E, retinol, and carotenoid concentrations. CONCLUSIONS: Alcohol-free red wine extract and one of its components, quercetin, can inhibit LDL oxidation after in vivo supplementation; such "inhibition" is unrelated to changes in antioxidant vitamin and carotenoid concentrations.

A comparison of Golytely and standard preparation for barium enema.

A randomized prospective trial was performed comparing Golytely (with bisacodyl) with our standard two-day catharsis and bowel washout regimen as colon preparation for double-contrast barium enema examinations. Of the 107 patients who participated, 50 received the standard preparation and 57 Golytely. Two radiologists reviewed the enema films without knowledge of which preparation had been used. No significant difference was detected either in the number of failed preparations or in the quality. We conclude that routine use of Golytely is preferable to methods involving catharsis and standard tap water enemas for barium enema examination, on the grounds that it is equally effective, yet more convenient for patients and for the radiology department, and reduces total costs.

Prenatal and immediate postnatal ultrasonographic diagnosis of ureterocele.

We report three patients in whom hydronephrosis was diagnosed by ultrasonography in utero. In two fetuses, ureteroceles were detected prenatally and these proved to be the cause of obstruction. In the third, bilateral simple ureteroceles were discovered immediately after birth. In the last patient, failure to see ureteroceles in utero may have been related to the phenomenon of ureterocele eversion and prolapse into the ureter. Ultrasonographers should be aware of this prolapse phenomenon as a potential pitfall for both the in utero and postpartum diagnosis of ureterocele.

Percutaneous drainage of iliopsoas abscess in Crohn's disease.

Iliopsoas abscess is a rare but serious complication of Crohn's disease. Initial treatment by surgical drainage of the abscess alone or in combination with bowel resection has been recommended. Percutaneous catheter abscess drainage (PAD) has not been described. We report 3 patients with this uncommon complication of Crohn's disease in whom PAD was attempted. It was successful in 2 cases but failed in 1, who went on to have the abscess drained surgically. We suggest that PAD can be a useful initial treatment to improve the patient's condition prior to definitive surgical resection.

Ultrasound examination in the diagnosis of popliteal artery aneurysms.

Popliteal artery aneurysm is a potentially limb-threating lesion which is frequently difficult to diagnose by clinical examination or angiography. The risk of limb loss can best be reduced by early diagnosis. Over the past 5 years we have prospectively evaluated ultrasound examination of the popliteal space in screening patients with clinically suspected popliteal artery aneurysms. One hundred patients who were suspected clinically of having a popliteal artery aneurysm underwent bilateral ultrasound examination of their popliteal fossae. There were 21 patients who had abnormal scans. The problems identified were popliteal artery aneurysm in thirteen patients, popliteal artery ectasia in four patients, Baker's cyst in two patients, thrombosis in one patient and popliteal stenosis in one patient. Eight patients with eleven popliteal artery aneurysms by ultrasound also underwent angiography. Seven of the aneurysms were confirmed, four were missed. All eleven aneurysms were confirmed at operation. In addition, angiography did not demonstrate an aneurysm in any patient with a normal ultrasound. This study confirms that ultrasound examination is a quick, accurate, and non-invasive method of screening for popliteal artery aneurysms.

The primary processes of photosystem II in purified guard-cell protoplasts and mesophyll-cell protoplasts from Commelina communis L.

Guard-cell protoplasts were isolated by enzymic digestion of the epidermis peeled from the abaxial surface of leaves from Commelina communis L. The protoplasts were separated from mesophyll-cell protoplasts and other contaminants by density-gradient centrifugation, and the purity of the preparations carefully and quantitatively assessed by light microscopy. The preparations of guard-cell protoplasts were then compared with mesophyll-cell protoplasts in terms of the activity of photosystem II as assessed by a) the light-induced evolution of oxygen under both steady-state and flashing light and b) the characteristics of photosystem-II chlorophyll fluorescence. In all experiments, clear photosystem-II activity was found in guard-cell protoplasts, although some subtle distinctions between guard-cell and mesophyll-cell protoplasts were found. The contribution of any contaimination by mesophyll-cell chlorophyll to guard-cell-protoplast signals was estimated to be less than 3% in all cases. The results indicate that photosystem II is present and active in guard cells of Commelina.