Multi-omics approach to socioeconomic disparity in metabolic syndrome reveals roles of diet and microbiome.

The epidemy of metabolic syndrome (MetS) is typically preceded by adoption of a "risky" lifestyle (e.g., dietary habit) among populations. Evidence shows that those with low socioeconomic status (SES) are at an increased risk for MetS. To investigate this, we recruited 123 obese subjects (body mass index [BMI] ≥ 30) from Chicago. Multi-omic data were collected to interrogate fecal microbiota, systemic markers of inflammation and immune activation, plasma metabolites, and plasma glycans. Intestinal permeability was measured using the sugar permeability testing. Our results suggest a heterogenous metabolic dysregulation among obese populations who are at risk of MetS. Systemic inflammation, linked to poor diet, intestinal microbiome dysbiosis, and gut barrier dysfunction may explain the development of MetS in these individuals. Our analysis revealed 37 key features associated with increased numbers of MetS features. These features were used to construct a composite metabolic-inflammatory (MI) score that was able to predict progression of MetS among at-risk individuals. The MI score was correlated with several markers of poor diet quality as well as lower levels of gut microbial diversity and abnormalities in several species of bacteria. This study reveals novel targets to reduce the burden of MetS and suggests access to healthy food options as a practical intervention.

A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy.

ALG6-CDG is a rare, but second most common, type 1 congenital disorder of glycosylation (CDG) caused by a defect in the α-1-3-glucosyltransferase (ALG6) enzyme in the N-glycan assembly pathway. Many mutations have been identified and inherited in an autosomal recessive pattern. There are less than 100 ALG6-CDG cases reported, all sharing the phenotype of hypotonia and developmental delay. The majority (perhaps >70%) have seizures, but a minority have intractable epilepsy or epileptic encephalopathy. We report the clinical course, EEG findings, and neuroimaging of a child found to have compound heterozygous alleles c.257 + 5G > A and c.680G > A (p.G227E) who developed explosive onset of intractable epilepsy and epileptic encephalopathy. Initially, CDG was not suspected due to its rarity and lack of multi-organ system involvement, but rapid whole exam sequence (8-day turnaround) revealed the specific diagnosis quickly.

The Spike-Wave Index of the First 100 Seconds of Sleep Can Be a Reliable Scoring Method for Electrographic Status Epilepticus in Sleep.

INTRODUCTION: Electrical status epilepticus in sleep (ESES) is an electrographic pattern in which interictal epileptiform activity is augmented by the transition to sleep, with non-rapid eye movement sleep state characterized by near-continuous lateralized or bilateral epileptiform discharges. The aim of this study was to measure the reliability of the spike-wave index (SWI) of the first 100 seconds of sleep as a tool for the diagnosis of ESES. METHODS: One hundred forty studies from 60 unique patients met the inclusion. Two neurophysiologists calculated the SWI of the first 100 seconds of spontaneous stage II non-rapid eye movement sleep. This was compared with the SWI of the first 5 minutes of non-rapid eye movement sleep and the cumulative SWI of three 5-minute bins of sleep. Agreement between the three SWI methods were analyzed using several statistical tools and methods. RESULTS: Using an SWI of 50% as a diagnostic cutoff, 57% of records had a diagnosis of ESES based on the first 100 seconds of sleep. Fifty-four percent of records had a diagnosis of ESES based on the method of using the SWI of three bins. This resulted in a diagnostic accuracy of 92%, sensitivity of 96%, and specificity of 88%. Positive predictive values of children diagnosed with ESES using the first 100 seconds of sleep, compared with 3 combined bins, was determined to be 90% and a negative predictive value was determined to be 95%. CONCLUSIONS: This analysis confirmed the diagnostic accuracy of using the SWI of the first 100 seconds of sleep and the cumulative total of three 5-minute bins.

Permanent genetic resources added to Molecular Ecology Resources Database 1 August 2010-30 September 2010.

This article documents the addition of 229 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Acacia auriculiformis × Acacia mangium hybrid, Alabama argillacea, Anoplopoma fimbria, Aplochiton zebra, Brevicoryne brassicae, Bruguiera gymnorhiza, Bucorvus leadbeateri, Delphacodes detecta, Tumidagena minuta, Dictyostelium giganteum, Echinogammarus berilloni, Epimedium sagittatum, Fraxinus excelsior, Labeo chrysophekadion, Oncorhynchus clarki lewisi, Paratrechina longicornis, Phaeocystis antarctica, Pinus roxburghii and Potamilus capax. These loci were cross-tested on the following species: Acacia peregrinalis, Acacia crassicarpa, Bruguiera cylindrica, Delphacodes detecta, Tumidagena minuta, Dictyostelium macrocephalum, Dictyostelium discoideum, Dictyostelium purpureum, Dictyostelium mucoroides, Dictyostelium rosarium, Polysphondylium pallidum, Epimedium brevicornum, Epimedium koreanum, Epimedium pubescens, Epimedium wushanese and Fraxinus angustifolia.

Prognostication of post-infarct chronic heart failure: superiority of clinical assessment vs. cardiopulmonary and left ventricular function analysis.

BACKGROUND: Prognostication of congestive heart failure post-myocardial infarction (MI) is important for decision making. We sought of a head-to-head comparison between the prognostic implication of clinical, cardiopulmonary, and left ventricular (LV) function assessment. METHODS: Retrospectively, 100 consecutive post-MI patients (MI history 1418+/-1668 days ago) were stratified by NYHA functional classification system, cardiopulmonary exercise testing (CPX) [oxygen consumption at maximal exercise (VO(2max)) and at the anaerobic threshold (VO(2AT)) resulting in the Weber classification], and LV function analysis by M-mode and two-dimensional echocardiography [LV end-diastolic and -systolic diameter index (LVDDI and LVSDI), shortening fraction (%D), and LV end-diastolic and -systolic volume index (EDVI and ESVI), LV ejection fraction (EF)]. Patients were controlled by phone call 1470+/-607 days later. RESULTS: There was only a modest correlation between NYHA and Weber classes (r=0.402) and no correlation between VO(2max) and ESVI (r=0.080) nor between NYHA and ESVI (r=0.174). Several parameters (ESVI, LVDDI, LVSDI, %D) could discriminate NYHA classes to a higher significance (p=0.05; 0.0008; 0.0002; 0.04) than the Weber classes (n.s.; p=0.03; n.s.; n.s.). The following parameters could significantly differentiate quartiles in a log-rank analysis (Kaplan-Meier survival curves): NYHA classes (p=0.0001), Weber classes (p=0.069), EDVI (p=0.004), ESVI (p=0.0001), EF (p=0.002), LVDDI (p=0.002), LVSDI (p<0.001) and %D (p<0.001). Multivariate analysis isolated the following three parameters implying decreasing, independent prognostic information: NYHA classes (p=0.001), ESVI (p=0.003), and Weber classes (p=0.040). CONCLUSIONS: In post-MI patients the thorough clinical assessment according the NYHA functional classification system implies higher prognostic information than more objective measures. This should be considered especially in primary care and should lessen the dependence on costly and expertise-dependent technical investigations.