Close correlation between high-density lipoprotein and triglycerides in normotriglyceridaemia.

The relationship between high-density-lipoprotein (HDL) particle size subclasses and the levels of the major lipoprotein lipids was studied in 74 men consecutively referred to the lipid clinic. HDL (density 1.070-1.21 kg l-1) was separated by polyacrylamide gradient gel electrophoresis (GGE) into five size-defined subclasses, in order of decreasing size as follows: HDL2b, HDL2a, HDL3a, HDL3b and HDL3c. Cholesterol and triglyceride concentrations in very-low-density (VLDL), low-density (LDL) and high-density (HDL) lipoproteins were determined. The level of VLDL triglycerides was negatively correlated with HDL2b (r = -0.66, P less than 0.0001), and positively correlated with HDL3b concentrations (r = 0.65, P less than 0.0001). Both correlations were restricted to subjects with VLDL triglyceride concentrations of less than 1.80 mmol l-1, i.e. those with normotriglyceridaemia. Patients with a history of myocardial infarction and/or angina pectoris (n = 18) had significantly lower HDL2b levels than subjects with asymptomatic hyperlipidaemia (n = 50), i.e. 0.16 vs. 0.22 mg protein ml-1 (P less than 0.05), despite essentially similar cholesterol and triglyceride levels in the VLDL, LDL and HDL fractions, including HDL2 and HDL3 cholesterol.     

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes.     

A glucose reference curve is the optimum method to determine the glycemic glucose equivalent values of foods in humans

The glycemic index ranks carbohydrates in foods on the basis of the blood glucose response they produce for a given amount of carbohydrate. The glycemic glucose equivalents (GGEs) is the blood glucose response to a defined portion of food. The purpose of this study was to determine the best method by which to measure the GGE of a food; whether it can be estimated from 1 or 2 glucose references or if a range of glucose references should be measured. Twenty individuals without diabetes participated. The incremental area under the curve (iAUC) from fasting to at least 120 minutes after consumption of 5 foods was determined. The iAUC for different glucose amounts was also determined and a standard glucose curve of glucose level against iAUC generated. The GGE of each food was estimated from iAUC of test food using the standard curve. The study found that using a glucose reference closest to the available carbohydrate content of the food gave a mean difference (95% confidence interval) in GGEs of 3.4 (2.0-4.8) g in comparison to the standard curve. Using a 50-g glucose reference gave a mean difference in GGEs of 5.2 (4.7-5.6) g and interpolating from 2 glucose references, 3.5 (1.9-5.2) g in comparison to the standard curve. In conclusion, the best method to determine the GGE value of a food is to use the standard glucose reference curve and estimate the response of the food directly from this.     

Prognostic value of EEG asymmetries for development of drug-resistance in drug-naïve patients with genetic generalized epilepsies

ObjectivePrevious studies based solely on visual EEG analysis reported equivocal results regarding an association of pharmaco-resistance with EEG asymmetries in genetic generalized epilepsies (GGE). We addressed this issue by applying both visual and quantitative methods to the pretreatment EEG of GGE patients.MethodsSocio-demographic/disease characteristics and response to treatment/discontinuation trial for these patients were recorded at 6 months and at last follow up. The first EEG was retrospectively, blindly, and visually assessed for focal slowing, focal discharges and also quantitatively analyzed for amplitude or latency asymmetries of generalized discharges. Association between these variables and development of drug-resistance was evaluated.ResultsOut of 51 subjects, 40% had some type of EEG asymmetry by visual, 37% by quantitative and 54% by combined analysis. Drug-resistance was identified in 52% of patients after 6 months and in 24% at the end of the follow up period (∼4.2 years). 27% of patients underwent a discontinuation trial; 43% unsuccessfully. There was no association between baseline EEG asymmetries of any type and refractoriness to medical therapy, regardless of analytical method used.ConclusionsIn a carefully selected cohort of medication-naïve GGE patients, visual and quantitative asymmetries in the first EEG were not associated with the development of pharmaco-resistance.SignificanceThese findings do not provide support for utilization of EEG asymmetries as a prognostic tool in GGE.     

Sensorimotor network hypersynchrony as an endophenotype in families with genetic generalized epilepsy: A resting‐state functional magnetic resonance imaging study

Recent evidence suggests that three specific brain networks show state‐dependent levels of synchronization before, during, and after episodes of generalized spike‐wave discharges (GSW) in patients with genetic generalized epilepsy (GGE). Here, we investigate whether synchronization in these networks differs between patients with GGE (n = 13), their unaffected first‐degree relatives (n = 17), and healthy controls (n = 18). All subjects underwent two 10‐minute simultaneous electroencephalographic–functional magnetic resonance imaging (fMRI) recordings without GSW. Whole‐brain data were divided into 90 regions, and blood oxygen level–dependent (BOLD) phase synchrony in a 0.04–0.07‐Hz band was estimated between all pairs of regions. Three networks were defined: (1) the network with highest synchrony during GSW events, (2) a sensorimotor network, and (3) an occipital network. Average synchrony (mean node degree) was inferred across each network over time. Notably, synchrony was significantly higher in the sensorimotor network in patients and in unaffected relatives, compared to controls. There was a trend toward higher synchrony in the GSW network in patients and in unaffected relatives. There was no difference between groups for the occipital network. Our findings provide evidence that elevated fMRI BOLD synchrony in a sensorimotor network is a state‐independent endophenotype of GGE, present in patients in the absence of GSW, and present in unaffected relatives.     

Variability in measurements of blood glucose response to foods in human subjects is not reduced after a standard breakfast

Measurements of blood glucose response to food are highly variable. We determined whether within-individual variability in data for blood glucose responses were reduced if individuals consumed a standard meal 2 hours before testing and investigated the effect of serving size. Blood glucose responses to muesli and macaroni cheese were determined in 13 individuals by taking 2 fasting capillary blood samples. Food was then consumed, and capillary blood samples were taken every 15 minutes for the first hour and every 30 minutes for the second hour. The incremental area under the blood glucose response curve was determined, and glycemic glucose equivalents (GGEs) were calculated. The GGE values were not significantly different whether the muesli and macaroni cheese were fed fasting or after a standard breakfast (29.2 vs 34.5 g for muesli and 11.0 vs 14.6 g for macaroni cheese). Within-individual coefficients of variation were not significantly different whether the food was consumed fasting or after a standard breakfast (24.9% and 32.5% for muesli and 38.1% and 59.4% for macaroni cheese). Differences in GGE between measured and estimated half serving size for macaroni cheese were 0.8 g (P = .6) and for muesli, 3 g (P = .2); for the double serving size for macaroni cheese, 1.7 g (P = .7); and for muesli, 6.7 g (P = .06). The GGE values for foods and variability in blood glucose response within individuals were not significantly different whether individuals fasted or consumed a standard breakfast before testing. However, blood glucose levels tended to differ significantly after consumption of the double serving size of muesli compared with other serving sizes.     

Clinical utility of EEG in diagnosing and monitoring epilepsy in adults

Electroencephalography (EEG) remains an essential diagnostic tool for people with epilepsy (PWE). The International Federation of Clinical Neurophysiology produces new guidelines as an educational service for clinicians to address gaps in knowledge in clinical neurophysiology. The current guideline was prepared in response to gaps present in epilepsy-related neurophysiological assessment and is not intended to replace sound clinical judgement in the care of PWE. Furthermore, addressing specific pathophysiological conditions of the brain that produce epilepsy is of primary importance though is beyond the scope of this guideline. Instead, our goal is to summarize the scientific evidence for the utility of EEG when diagnosing and monitoring PWE.     

TMS combined with EEG in genetic generalized epilepsy: A phase II diagnostic accuracy study

Objectives

(A) To develop a TMS–EEG stimulation and data analysis protocol in genetic generalized epilepsy (GGE). (B) To investigate the diagnostic accuracy of TMS–EEG in GGE.

Estimation and multi-variate analysis of iron and zinc concentration in a diverse panel of urdbean (Vigna mungo L. Hepper) genotypes grown under differing soil conditions

Urdbean is an important pulse crop in South Asia and has the potential to be a global food legume due to its rich nutrient profile. Therefore, identification of sources with high concentration of iron and zinc is important for overcoming the problem of micronutrient malnutrition. In the present study, 83 urdbean genotypes of diverse origin were tested for iron and zinc concentrations over two locations. Analysis of variance showed that genotype effects were significant for both traits over both locations. Iron concentration ranged from 19−235 mg/kg (mean 117 mg/kg) and 16−255 mg/kg (mean 91 mg/kg) among tested genotypes at the first and second locations, respectively. For zinc concentration it ranged from 5−134 mg/kg (mean 44 mg/kg) at first location, while at second location it was between 12−59 mg/kg (mean 29 mg/kg). Combined analysis of variance showed the ‘genotype (G)’, ‘location (L)’ and ‘genotype’ (G) x ‘location’ (L) interaction effects significant for both micronutrient concentrations. For high iron concentration, most stable urdbean genotypes (PU 31 and IPU 99−43) were identified using GGEBiplot analysis. Similarly, highly stable genotypes for high concentration of zinc were BGP 28 and HPU 120. This study has identified useful donors and enhanced our knowledge towards the development of biofortified urdbean cultivars.