An important risk factor in idiopathic generalized epilepsies

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Helbig et al. (2009)
Nature Genetics 41(2):160–162     

Assessment of an abbreviated odorant identification task for children: a rapid screening device for schools and clinics

To validate the level of olfactory performance of children, we tested 825 volunteers, aged 4–17 years, with an abbreviated form of our pediatric odorant identification task. The test consisted of sniffing and identifying five odorants (baby powder, bubble gum, candy cane, licorice and peach). Mean olfactory scores increased as a function of age, reaching a plateau of about 94–95% correct at 8 years of age. In general, girls out–performed boys. Physicians require a test instrument such as the one we have devised to allow them to diagnose olfactory dysfunction in children. The present task is particularly applicable in screening large numbers of children in clinics or schools because it can be administered easily and rapidly. Adult subjects with olfactory dysfunction also performed poorly on this odorant identification task designed for children. Therefore, we expect that our odorant identification task will also detect children with severe olfactory dysfunction.     

Leakage assessment in adjustable laparoscopic gastric banding: radiography versus <Superscript>99m</Superscript>Tc-pertechnetate scintigraphy

The least invasive of all surgical weight-lowering procedures is the adjustable laparoscopic gastric banding (ALGB) technique. A rare complication (0.9%-1.8% of patients) but one that may require surgical revision is leakage of the gastric banding device. This paper reports on the usefulness of technetium-99m scintigraphy for the assessment of gastric band leaks as compared with radiography. Between March 1997 and October 2001, 23 obese patients (20 women and 3 men; mean age 35 years; range 23-60 years; mean body mass index before gastric banding procedure, 39.2 kg/m(2); range 29.3-52.1 kg/m(2)) were referred for exclusion of gastric banding leakage by means of radiography and (99m)Tc-pertechnetate scintigraphy. Both procedures were performed on the same day in all patients. Two patients underwent both procedures, respectively two and three times. A total of 27 radiographic and scintigraphic examinations were performed. Radiographs were judged positive for leakage when escape of contrast agent through a defect in the gastric banding device was visualised or when indirect criteria, e.g. smooth passage of barium suspension through the stoma after injection of contrast agent, were present. Scintigraphic images were judged positive when tracer disappearance out of the banding device and uptake in the thyroid gland as well as enhancement of the gastric mucosa were observed 30 min and/or 3 h post injection. Overall sensitivity, specificity and accuracy for radiography and (99m)Tc scintigraphy were 81.8% vs 81.8%, 75% vs 100% and 77.7% vs 92.6%. Leakage from the reservoir or the connecting tube is a late complication of ALGB. The presented data suggest that (99m)Tc-pertechnetate scintigraphy is more efficient than radiography in determining the presence of such leaks.     

Automatic quantification of defect size using normal templates: a comparative clinical study of three commercially available algorithms

Infarct size assessed by myocardial single-photon emission tomography (SPET) imaging is an important prognostic parameter after myocardial infarction (MI). We compared three commercially available automatic quantification algorithms that make use of normal templates for the evaluation of infarct extent and severity in a large population of patients with remote MI. We studied 100 consecutive patients (80 men, mean age 63 +/- 11 years, mean LVEF 47% +/- 15%) with a remote MI who underwent resting technetium-99m tetrofosmin gated SPET study for infarct extent and severity quantification. The quantification algorithms used for comparison were a short-axis algorithm (Cedars-Emory quantitative analysis software, CEqual), a vertical long-axis algorithm (VLAX) and a three-dimensional fitting algorithm (Perfit). Semiquantitative visual infarct extent and severity assessment using a 20-segment model with a 5-point score and the relation of infarct extent and severity with rest LVEF determined by quantitative gated SPET (QGS) were used as standards to compare the different algorithms. Mean infarct extent was similar for visual analysis (30% +/- 21%) and the VLAX algorithm (25% +/- 17%), but CEqual (15% +/- 11%) and Perfit (5% +/- 6%) mean infarct extents were significantly lower compared with visual analysis and the VLAX algorithm. Moreover, infarct extent determined by Perfit was significantly lower than infarct extent determined by CEqual. Correlations between automatic and visual infarct extent and severity evaluations were moderate (r = 0.47, P < 0.0001 to r = 0.62, P < 0.0001) but comparable for all three algorithms. Correlations between LVEF and visual evaluation of infarct extent (r = -0.80, P < 0.0001) and severity (r = -0.82, P < 0.0001) were good but correlations were significantly lower for all three algorithms (r = -0.48, P < 0.0001 to r = -0.65, P < 0.0001). Systematically lower correlations were found in non-anterior infarctions (n = 69) and obese patients (BMI > or = 30 kg/m2, n = 32) compared with anterior infarctions and non-obese patients for all three algorithms. In this large series of post-MI patients, results of infarct extent and severity determination by automatic quantification algorithms that make use of normal templates were not interchangeable and correlated only moderately with semiquantitative visual analysis and LVEF.