Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

BackgroundNeural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making variants in genes in the folate metabolic pathway attractive candidates for NTD risk. Multiple studies have identified nominally significant allelic associations with NTDs. We tested whether associations detected in a large Irish cohort could be replicated in an independent population.MethodsReplication tests of 24 nominally significant NTD associations were performed in racially/ethnically matched populations. Family-based tests of fifteen nominally significant single nucleotide polymorphisms (SNPs) were repeated in a cohort of NTD trios (530 cases and their parents) from the United Kingdom, and case-control tests of nine nominally significant SNPs were repeated in a cohort (190 cases, 941 controls) from New York State (NYS). Secondary hypotheses involved evaluating the latter set of nine SNPs for NTD association using alternate case-control models and NTD groupings in white, African American and Hispanic cohorts from NYS.ResultsOf the 24 SNPs tested for replication, ADA rs452159 and MTR rs10925260 were significantly associated with isolated NTDs. Of the secondary tests performed, ARID1A rs11247593 was associated with NTDs in whites, and ALDH1A2 rs7169289 was associated with isolated NTDs in African Americans.ConclusionsWe report a number of associations between SNP genotypes and neural tube defects. These associations were nominally significant before correction for multiple hypothesis testing. These corrections are highly conservative for association studies of untested hypotheses, and may be too conservative for replication studies. We therefore believe the true effect of these four nominally significant SNPs on NTD risk will be more definitively determined by further study in other populations, and eventual meta-analysis

Streamlining screening of emotional function in Veterans with traumatic brain injury

ObjectivesThis study examined how depression, anxiety, and sleep items from the Neurobehavioral Symptom Inventory (NSI) predict results from longer inventories.MethodThis was a retrospective review from 484, predominantly male (96.1%) Veterans, mean age 29.7 years, who underwent brief neuropsychological screening during a comprehensive, multidisciplinary evaluation for mild traumatic brain injury (TBI). Participants completed the NSI, insomnia severity index (ISI), and hospital anxiety and depression scale (HADS).Results: Overall,97.1% who endorsed “severe”/“very severe” anxiety on the NSI had significant anxiety on the HADS; 85% reporting “severe”/“very severe” depression on the NSI, had significant depression on the HADS; and 97.7% reporting “severe”/“very severe” sleep problems on the NSI, had significant sleep difficulties on the ISI.ConclusionClose correspondence between “severe”/“very severe” symptoms on the NSI and lengthier checklists suggests additional checklists may be eliminated and individuals can be referred for mental health treatment. NSI reports of “mild”/“moderate” require further screening.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/144598/1/jclp22595_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/144598/2/jclp22595.pd

Movement Analysis of Philippine Folk Dance Itik-itik

The purpose of the study was to describe and analyze the dance movements of the Philippine folk dance Itik-itik. The researchers adopted the movement analysis method similar to that of Mackenzie that involves the (1) description of the actual movements which occur at the joints involved; (2) the plane in which the movement occurs; and (3) the muscles producing the movement (agonist & antagonist). In addition, similar to the study of Martin and Miller, the researchers also had done a mechanical analysis on the lever type involved in the execution of the dance movement in terms of force, axis, and resistance. Results revealed that the prominent dance steps in the Philippine local dance Itik-itik are the (1) running, (2) cross step, slide close, slide close step, (3) heel, close-ball, close arm, (4) step, slide-close, slide, (5) arms extension/flexion, and (6) flapping of the arms. The joints involved are the shoulder and hip muscle which are ball and socket type of joints; and elbow, knee and ankle which are hinge joints. The major muscles involved in the dance for the lower body include the quadriceps, hamstring muscle group, adductor muscle group, calves and gluts. While for the upper body muscles involved are the pectoralis major, latissimus dorsi, deltoid, trapezius, biceps, and triceps muscles. The type of lever used in performing the dance comprise majority of 1st class and 3rd class levers. By knowing the muscles involved in the dance the dance teacher may be able to devise activities to gradually prepare the prime mover muscles before the actual execution for injury prevention. Thus, the movements in the dance may improve the health and skill related fitness of the performers

Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans

BACKGROUND: Myo-inositol (MI) is incorporated into numerous biomolecules, including phosphoinositides and inositol phosphates. Disturbance of inositol availability or metabolism is associated with various disorders, including neurological conditions and cancers, while supplemental MI has therapeutic potential in conditions such as depression, polycystic ovary syndrome and congenital anomalies. Inositol status may be influenced by diet, synthesis, transport, utilisation and catabolism. OBJECTIVES: We aimed to investigate potential genetic regulation of circulating MI status and to evaluate correlation of MI concentration with other metabolites. METHODS: Gas chromatography mass spectrometry was used to determine plasma MI concentration of more than 2,000 healthy, young adults (aged 18-28 years) from the Trinity Student Study. Genotyping data was used to test association of plasma MI with SNPs in candidate genes, encoding inositol transporters and synthesising enzymes, and test for genome-wide association. We evaluated potential correlation of plasma MI with D-chiro inositol, glucose and other metabolites by Spearman's rank correlation. RESULTS: Mean plasma MI showed a small but significant difference between males and females (28.5 and 26.9 µM, respectively). Candidate gene analysis revealed several nominally significant associations with plasma MI, most notably for SLC5A11, encoding a sodium-coupled inositol transporter, also known as SMIT2 (sodium-dependent myo-inositol transporter 2). However, these did not survive correction for multiple testing. Subsequent testing for genome-wide association with plasma MI did not identify associations of genome-wide significance (p < 5 × 10-8). However, 8 SNPs exceeded the threshold for suggestive significant association with plasma MI concentration (p < 1 × 10-5), 3 of which were located within or close to genes: MTDH, LAPTM4B and ZP2. We found significant positive correlation of plasma MI concentration with concentration of D-chiro-inositol and several other biochemicals including glucose, methionine, betaine, sarcosine and tryptophan. CONCLUSION: Our findings suggest potential for modulation of plasma MI in young adults by variation in SLC5A11 which is worthy of further investigation

The Impact of Kaluza-Klein Excited W Boson on the Single Top at LHC and Comparison with other Models

We study the s-channel single top quark production at the LHC in the context of extra dimension theories, including the Kaluza-Klein (KK) decomposition. It is shown that the presence of the first KK excitation of $W$ gauge boson can reduce the total cross section of s-channel single top production considerably if $M_{W_{KK}}\sim2.2 \rm TeV$ ($3.5 \rm TeV$) for $7\rm TeV$ ($14\rm TeV$) in proton-proton collisions. Then the results will be compared with the impacts of other beyond Standard Model (SM) theories on the cross section of single top s-channel. The possibility of distinguishing different models via their effects on the production cross section of the s-channel is discussed.Comment: 23 pages,6 figure

Proposed low-energy absolute calibration of nuclear recoils in a dual-phase noble element TPC using D-D neutron scattering kinematics

We propose a new technique for the calibration of nuclear recoils in large noble element dual-phase time projection chambers used to search for WIMP dark matter in the local galactic halo. This technique provides an $\textit{in situ}$ measurement of the low-energy nuclear recoil response of the target media using the measured scattering angle between multiple neutron interactions within the detector volume. The low-energy reach and reduced systematics of this calibration have particular significance for the low-mass WIMP sensitivity of several leading dark matter experiments. Multiple strategies for improving this calibration technique are discussed, including the creation of a new type of quasi-monoenergetic 272 keV neutron source. We report results from a time-of-flight based measurement of the neutron energy spectrum produced by an Adelphi Technology, Inc. DD108 neutron generator, confirming its suitability for the proposed nuclear recoil calibration.Peer Reviewe

101 Dothideomycetes genomes: A test case for predicting lifestyles and emergence of pathogens.

Dothideomycetes is the largest class of kingdom Fungi and comprises an incredible diversity of lifestyles, many of which have evolved multiple times. Plant pathogens represent a major ecological niche of the class Dothideomycetes and they are known to infect most major food crops and feedstocks for biomass and biofuel production. Studying the ecology and evolution of Dothideomycetes has significant implications for our fundamental understanding of fungal evolution, their adaptation to stress and host specificity, and practical implications with regard to the effects of climate change and on the food, feed, and livestock elements of the agro-economy. In this study, we present the first large-scale, whole-genome comparison of 101 Dothideomycetes introducing 55 newly sequenced species. The availability of whole-genome data produced a high-confidence phylogeny leading to reclassification of 25 organisms, provided a clearer picture of the relationships among the various families, and indicated that pathogenicity evolved multiple times within this class. We also identified gene family expansions and contractions across the Dothideomycetes phylogeny linked to ecological niches providing insights into genome evolution and adaptation across this group. Using machine-learning methods we classified fungi into lifestyle classes with &gt;95&nbsp;% accuracy and identified a small number of gene families that positively correlated with these distinctions. This can become a valuable tool for genome-based prediction of species lifestyle, especially for rarely seen and poorly studied species