The SCN5A gene encodes the alpha subunit of the human cardiac voltage-gated sodium channel. Mutations in SCN5A are responsible for Brugada syndrome, an inherited cardiac disease that leads to idiopathic ventricular fibrillation (IVF) and sudden death. In this study, we screened nine individuals from a single family and 12 sporadic patients who were clinically diagnosed with Brugada syndrome. Using PCR-SSCP, DHPLC, and DNA sequencing analysis, we identified a novel single missense mutation associated with Brugada syndrome in the family and detected a C5607T polymorphism in Korean subjects. A single nucleotide substitution of G to A at nucleotide position 3934 changed the coding sense of exon 21 of the SCN5A from glycine to serine (G1262S) in segment 2 of domain III (DIII-S2). Four individuals in the family carried the identical mutation in the SCN5A gene, but none of the 12 sporadic patients did. This mutation was not found in 150 unrelated normal individuals. This finding is the first report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans.

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A Gram-stain-positive, strictly aerobic, short-rod-shaped, non-motile strain (designated MJ32 T ) was isolated from a sludge sample of the Daejeon sewage disposal plant in South Korea. A polyphasic approach was applied to study the taxonomic position of strain MJ32T . Strain MJ32 T showed highest 16S rRNA gene sequence similarity to Gordonia hirsuta DSM 44140 T (98.1 %)and Gordonia hydrophobica DSM 44015 T (97.0 %); levels of sequence similarity to the type strains of other recognized Gordonia species were less than 97.0 %. Phylogenetic analysis based on 16S rRNA gene sequences showed that strain MJ32 T belonged to the clade formed by members of the genus Gordonia in the family Gordoniaceae. The G+C content of the genomic DNA of strain MJ32 T was 69.2 mol%. Chemotaxonomically, strain MJ32 T showed features typical of the genus Gordonia. The predominant respiratory quinone was MK-9(H 2 ), the mycolic acids present had C 56 -C 60 carbon atoms, and the major fatty acids were C 16 : 0 (34.6 %), tuberculostearic acid (21.8 %), C 16 : 1 v7c (19.5 %) and C 18 : 1 v9c (12.7 %). The peptidoglycan type was based on meso-2,6-diaminopimelic acid as the diagnostic diamino acid with glycolated sugars. On the basis of phylogenetic inference, fatty acid profile and other phenotypic properties, strain MJ32

This study was designed to examine the aerobic capacity and ventilatory response during an incremental exercise in elite high school cyclists. Twelve boys (17±1 yr, 175±5 cm, 70±9 kg) participated in anthropometric measurements, incremental exercise testing, and pulmonary function tests. During incremental exercise testing using a cycle ergometer, their maximal oxygen uptake (VO2max), maximal power output, ventilation, ventilatory equivalents for oxygen (VE/VO2) and carbon dioxide (VE/VCO2), respiratory rate, and tidal volume were measured. Time variables such as inspiratory time (Ti), expiratory time (Te), breathing time (Tb), and inspiratory duty cycle (Ti/Tb), as well as inspiratory flow rate (VT/Ti) were assessed. Pulmonary function of vital capacity (FVC), forced expiratory volume in one second (FEV1), FEV1/FVC, and peak expiratory flow were evaluated. Their VO2max, maximal heart rate, and Wmax were 57.5±3.9 ml·kg , and 452 W, respectively. VO2max was not related to any anthropometric parameters. Most ventilatory variables progressively increased with exercise intensity. As intensity increased, Ti, Tb, Tb decreased while Ti/Tb was maintained. Below an intensity of 250 W, height, weight, body mass index, and body surface were highly correlated with VT/Ti and Ti/Tb (p<0.05). Collectively, VO2max appeared to be lower than adult cyclists, suggesting a different pattern of ventilatory control as age advances. Morphological characteristics were not related to VO2max in the population. Time variables of ventilatory response seemed to be related only at an exercise intensity level of less than 250 W. VT/Ti may be related to exercise endurance capacity, but Ti/Tb was similar to adult cyclists.

Increasing physical activity has been strongly recommended to reduce mortality and healthcare costs. Various wrist‐worn accelerometer‐based devices have been developed to measure level of physical activity, yet little is known about the ability of the devices to precisely estimate physical activity measurements among different locations (i.e., left vs. right; distal vs. proximal).PURPOSEWe, therefore, investigated whether there are differences in heart rates, step counts, and calories estimated from newly developed wearable device (NeoFit) worn at different locations.METHODSThirty‐two healthy subjects (26 ± 6.6 years) participated in both laboratory and free living activities while wearing Neofit at four different locations: right proximal (RP), right distal (RD), left proximal (LP), or left distal (LD). Laboratory activities consisted resting, slow walking (53.6 m/min), brisk walking (107.3 m/min), running (160.9 m/min) on a treadmill, and recovery. Free living activities included lying down, shopping, climbing stairs, laundry, cleaning, working on the computer, stretching, walking, jogging, and sports activity. Repeated measures ANOVAs were performed with a Neofit monitor placement as a within‐subjects factor on a total of 15 laboratory and free‐living activities for each outcome measurement. Bonferroni technique was used to adjust the alpha level of .003 (.05/15). The Greenhouse‐Geisser (G‐G) adjusted F and degrees of freedom were reported.RESULTSThere were no significant differences in heart rates among four different locations in both laboratory and free living activities. However, step counts and calories were significantly different among devices during running: F(2.00, 62.04) = 12.58, G‐G p < .001 and F(1.96, 58.86) = 10.22, G‐G p < .001, respectively. Step counts and calories estimation in NeoFit monitors worn at left arm were markedly higher than those recorded from right arm (steps: LP & LD > RD, LD > RP; calories: LP & LD > RP & RD). In free‐living activities, significant differences in step counts and calories were observed during shopping, F(1.67, 51.54) = 15.90, G‐G p < .001 and F(1.94, 60.01) = 9.07, G‐G p < .001, respectively); laundry, F(1.50, 46.63) = 10.25, G‐G p = .001 and F(2.58, 79.85) = 7.08, G‐G p = .001, respectively); and sports, F(1.31, 39.21) = 10.70, G‐G p = .001 and F(2.28, 70.53) = 15.79, G‐G p < .001, respectively). NeoFit monitors worn at left arm also displayed higher step counts and calories than those from right arm during sports (steps: LP & LD > RP, LP > RD; calories: LP & LD > RD, LP > RP). In contrast to the results of laboratory activities, step counts and calories estimated from right arm were considerably higher than those from left arm during shopping (steps: RP & RD > LP & LD; calories: RP & RD > LP; RP > LD) and laundry (steps: RP & RD > LP & LD; calories: RP > LP & LD; RD > LD). No significant difference between proximal and distal placements was found during all activities.CONCLUSIONWe found that NeoFit placement sites does not markedly affect the estimation of heart rates. The estimation of step counts, and calories during the laboratory‐based and free‐living activities were somewhat different between left and right arms. Further investigation is warranted to examine the accuracy of NeoFit monitors against criterion measures of physical activity.Support or Funding InformationSupported by MEDIPLUS SOLUTION.This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.