Identifying variants that contribute to linkage for dichotomous and quantitative traits in extended pedigrees

Compared to genome-wide association analysis, linkage analysis is less influenced by allelic heterogeneity. The use of linkage information in large families should provide a great opportunity to identify less frequent variants. We perform a linkage scan for both dichotomous and quantitative traits in eight extended families. For the dichotomous trait, we identified one linkage region on chromosome 4q. For quantitative traits, we identified two regions on chromosomes 4q and 6p for Q1 and one region on chromosome 6q for Q2. To identify variants that contribute to these linkage signals, we performed standard association analysis in genomic regions of interest. We also screened less frequent variants in the linkage region based on the risk ratio and phenotypic distribution among carriers. Two rare variants at VEGFC and one common variant on chromosome 4q conferred the greatest risk for the dichotomous trait. We identified two rare variants on chromosomes 4q (VEGFC) and 6p (VEGFA) that explain 12.4% of the total phenotypic variance of trait Q1. We also identified four variants (including one at VNN3) on chromosome 6q that are able to drop the linkage LOD from 3.7 to 1.0. These results suggest that the use of classical linkage and association methods in large families can provide a useful approach to identifying variants that are responsible for diseases and complex traits in families

New decoupling zmethod for spiral phase array HTS coil

published_or_final_versio

Prevalence and awareness of lower urinary tract symptoms among males in the Outpatient Clinics of Universiti Kebangsaan Malaysia Medical Centre.

This study aims to determine the prevalence of lower urinary tract symptoms (LUTS) and level of awareness among male outpatients in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). A questionnaire consisting of demographic data, questions related to knowledge, attitude and practice on BPH and the International Prostate Symptom Score (IPSS) was used for this study. Uroflowmetry and bladder scan were used to evaluate the function of the urinary tract and severity of BPH. Urine dipstick was done for glycosuria, proteinuria and haematuria. A total of 220 respondents were surveyed. The prevalence of moderately and severely symptomatic LUTS was 42.7%. The most commonly reported LUTS were nocturia (78.2%), frequency (58.2%) and incomplete emptying (44.6%). The prevalence of glycosuria, proteinuria and haematuria were 23.6%, 11.4% and 1.8% respectively. There was a significant association between increasing age with the severity of LUTS (p=0.005). Out of 102 respondents with voided urine volume greater than 150 mL, there was a significant decrease in maximum (Qmax) (p=0.039) and average (Qave) urine flow rates with every 10 years increase of age (p=0.001). The majority of respondents (59.5%) have heard of BPH before. Over 78.2% of the respondents would seek medical attention if they have LUTS with 15.9% saying they would seek traditional treatment. In conclusion, the prevalence of LUTS was high and the level of awareness was satisfactory

Dialkyldithiophosphate Acids (HDDPs) as Effective Lubricants of Sol–Gel Titania Coatings in Technical Dry Friction Conditions

The goal of this study was the investigation of the effectiveness of dialkyldithiophosphate acids (HDDPs) films in improving the tribological properties of thin, sol– gel derived titania coatings. Amorphous, anatase, and rutile titania coatings were obtained using sol–gel dip–coating deposition after treatment at 100, 500, and 1,000 C, respectively. Titania coatings were then modified from the liquid phase by HDDPs acids having dodecyl-(C12), tetradecyl-(C14), and hexadecyl-(C16) alkyl chains deposited by dip–coating (DC) and Langmuir–Blodgett (LB) methods. The influence of the deposition procedure, the length of the HDDPs alkyl chain and the type of titania substrate on the surface morphology and tribological properties were studied. It was found, using wetting contact angle measurements, that these modifications of titania coatings decrease the surface free energy and increase its hydrophobicity. The surface topography imaged by Atomic force microscopy (AFM), exhibit island-like or agglomerate features for the DC deposition method, while smooth topographies were observed for LB depositions. Tribological tests were conducted by means of a microtribometer operating in the normal load range 30–100 mN. An enhancement of tribological properties was observed upon modification, as compared to unmodified titania

Experimental observation of nonlinear Thomson scattering

A century ago, J. J. Thomson showed that the scattering of low-intensity light by electrons was a linear process (i.e., the scattered light frequency was identical to that of the incident light) and that light's magnetic field played no role. Today, with the recent invention of ultra-high-peak-power lasers it is now possible to create a sufficient photon density to study Thomson scattering in the relativistic regime. With increasing light intensity, electrons quiver during the scattering process with increasing velocity, approaching the speed of light when the laser intensity approaches 10^18 W/cm^2. In this limit, the effect of light's magnetic field on electron motion should become comparable to that of its electric field, and the electron mass should increase because of the relativistic correction. Consequently, electrons in such high fields are predicted to quiver nonlinearly, moving in figure-eight patterns, rather than in straight lines, and thus to radiate photons at harmonics of the frequency of the incident laser light, with each harmonic having its own unique angular distribution. In this letter, we report the first ever direct experimental confirmation of these predictions, a topic that has previously been referred to as nonlinear Thomson scattering. Extension of these results to coherent relativistic harmonic generation may eventually lead to novel table-top x-ray sources.Comment: including 4 figure

Ocular sarcoidosis and tuberculous lymphadenopathy: coincidence or real association

Tuberculosis and sarcoidosis share similarity in histopathologic findings and clinically occur in association with each other occasionally. Tuberculosis should always be ruled out before the diagnosis of sarcoidosis. But, the diagnosis is often complicated, especially in extrapulmonary cases. Here we present a case of bilateral vitreous hemorrhage with uveitis. Ocular sarcoidosis was initially diagnosed based on the characteristic ocular findings, negative results on chest radiography, tuberculosis culture, and polymerase chain reaction of aqueous, as well as simultaneous presence of panda and lambda sign on gallium-67 scans. The ocular condition improved after pars plana vitrectomy and systemic steroid therapy. However, TB lymphadenopathy but no recurrent ocular inflammation was found 6 years later. The patient received anti-TB treatment for 6 months thereafter. The eyes remained silent except cataract progression and glaucoma under two medications during this period. In conclusion, TB could occur coincidently or in association with sarcoidosis, continued follow-up is important for patients with ocular sarcoidosis

Intrauterine pregnancy following low-dose gonadotropin ovulation induction and direct intraperitoneal insemination for severe cervical stenosis

BACKGROUND: We present a case of primary infertility related to extreme cervical stenosis, a subset of cervical factor infertility which accounts for approximately 5% of all clinical infertility referrals. CASE PRESENTATION: A 37 year-old nulligravida was successfully treated with ovulation induction via recombinant follicle stimulating hormone (FSH) and direct intraperitoneal insemination (IPI). Anticipating controlled ovarian hyperstimulation with in vitro fertilization/embryo transfer (IVF), the patient underwent hysteroscopy and cervical recanalization, but safe intrauterine access was not possible due to severe proximal cervical stricture. Hysterosalpingogram established bilateral tubal patency and confirmed an irregular cervical contour. Since the cervical canal could not be traversed, neither standard intrauterine insemination nor transcervical embryo transfer could be offered. Prepared spermatozoa were therefore placed intraperitoneally at both tubal fimbria under real-time transvaginal sonographic guidance using a 17 gage single-lumen IVF needle. Supplementary progesterone was administered as 200 mg/d lozenge (troche) plus 200 mg/d rectal suppository, maintained from the day following IPI to the 8(th )gestational week. A singleton intrauterine pregnancy was achieved after the second ovulation induction attempt. CONCLUSIONS: In this report, we outline the relevance of cervical factor infertility to reproductive medicine practice. Additionally, our andrology evaluation, ovulation induction approach, spermatozoa preparation, and insemination technique in such cases are described

A floating connector element formulation for multi-level modelling of composite structures

Design and optimisation of large structures, including the positioning of lower-level components, typically require extensive user involvement and sequential mechanical analysis/optimisation iterations. This paper presents an original method that enables adaptive positioning of lower-level models (such as components) within higher level-models (such as large structures), and that achieves a combined mechanical/optimisation problem for the design of structures with various hierarchical levels (such as the positioning of stiffeners within a wingbox). As the position of the lower-level model evolves, our proposed method does not require re-generating of the geometry, remeshing or modifying the stiffness matrix of the elements corresponding to the various hierarchical levels. Instead, we achieve the adaptive positioning via an original concept that we propose here: Floating Connector (FC) elements. In this paper, we validate the FC elements against reference purely-mechanical solutions, show that they can be combined with gradient-descent method and genetic algorithms, and that they can be applied to optimise the positioning of a stiffener runout taking into account a debonding manufacturing defect

Exploring the polarization of gluons in the nucleon

We give an overview of the current status of investigations of the polarization of gluons in the nucleon. We describe some of the physics of the spin-dependent gluon parton distribution and its phenomenology in high-energy polarized hadronic scattering. We also review the recent experimental results.Comment: 10 pages, 13 figures. Talk presented at the "Second Meeting of the APS Topical Group on Hadronic Physics", Nashville, Tennessee, October 22-24, 2006. Reference adde

The detection of the imprint of filaments on cosmic microwave background lensing

Galaxy redshift surveys, such as 2dF, SDSS, 6df, GAMA and VIPERS, have shown that the spatial distribution of matter forms a rich web, known as the cosmic web. The majority of galaxy survey analyses measure the amplitude of galaxy clustering as a function of scale, ignoring information beyond a small number of summary statistics. Since the matter density field becomes highly non-Gaussian as structure evolves under gravity, we expect other statistical descriptions of the field to provide us with additional information. One way to study the non-Gaussianity is to study filaments, which evolve non-linearly from the initial density fluctuations produced in the primordial Universe. In our study, we report the first detection of CMB (Cosmic Microwave Background) lensing by filaments and we apply a null test to confirm our detection. Furthermore, we propose a phenomenological model to interpret the detected signal and we measure how filaments trace the matter distribution on large scales through filament bias, which we measure to be around 1.5. Our study provides a new scope to understand the environmental dependence of galaxy formation. In the future, the joint analysis of lensing and Sunyaev-Zel'dovich observations might reveal the properties of `missing baryons', the vast majority of the gas which resides in the intergalactic medium and has so far evaded most observations