Search results for "LOCI"
showing 10 items of 1277 documents
C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association an…
2010
3 Figures. 2 Tables. The online version of this article contains a data supplement.
Intraoperative monitoring of cerebral blood flow during ventricular shunting in hydrocephalic pediatric patients.
1995
Several studies have demonstrated lowered cerebral blood flow (CBF) in patients with hydrocephalus and symptoms of raised intracranial pressure. Ventricular shunting in such cases permits a sudden increase in CBF. The pathophysiology of functional brain deficit secondary to hydrocephalus is little understood. Improvement of the patient's clinical status after drainage of CSF suggests that cerebral dysfunction is not necessarily due to permanent brain damage. In fact, it improves rapidly after ventricular taps. In view of this it would be helpful to monitor cerebral perfusion. The transcranial Doppler (TCD) ultrasonography technique allows real-time monitoring of the intracranial circulation…
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma
2014
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…
Dynamic thoracohumeral kinematics are dependent upon the etiology of the shoulder injury.
2017
[EN] Obtaining kinematic patterns that depend on the shoulder injury may be important when planning rehabilitation. The main goal of this study is to explore whether the kinematic patterns of continuous and repetitive shoulder elevation motions are different according to the type of shoulder injury in question, specifically tendinopathy or rotator cuff tear, and to analyze the influence of the load handled during its assessment. For this purpose, 19 individuals with tendinopathy and 9 with rotator cuff tear performed a repetitive scaption movement that was assessed with stereophotogrammetry. Furthermore, static range of motion (ROM) and isometric strength were evaluated with a goniometer an…
Sperm kinematic subpopulations of the American crocodile (Crocodylus acutus)
2021
There has been very limited use of computer assisted semen analysis (CASA) to evaluate reptile sperm. The aim of this study was to examine sperm kinematic variables in American crocodile (Crocodylus acutus) semen samples and to assess whether sperm subpopulations could be characterized. Eight ejaculates (two ejaculates/male) from four sexually mature captive crocodiles were obtained. An ISAS®v1 CASA-Mot system, with an image acquisition rate of 50 Hz, and ISAS®D4C20 counting chambers were used for sperm analyses. The percentages of motile and progressively motile spermatozoa did not differ among animals (P > 0.05) but there was a significant animal effect with regards to kinematic variables…
Mediator-Induced Changes in Macromolecular Permeability in the Rat Mesenteric Microcirculation
1995
An intravital fluorescence microscopic method for measurement of changes in macromolecular permeability has been established in the mesenterial microcirculation of the rat. After exteriorization of the fat-free distal part of the ileal mesentery, a 1-hr period of stabilization was followed by the injection of FITC-labeled macromolecules. Five minutes later, histamine, leukotriene B4, or leukotriene C4 was topically applied to the tissue by means of a micromanipulator. Areas of 1 mm2 were videotaped with a SIT camera. The fluorescence intensity of these areas was measured by an analogous video image processing system and displayed as gray value histograms. The shift of the frequency of gray …
The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
2013
Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, r…
Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis
2012
Many disorders are associated with altered serum protein concentrations, including malnutrition, cancer, and cardiovascular, kidney, and inflammatory diseases. Although these protein concentrations are highly heritable, relatively little is known about their underlying genetic determinants. Through transethnic meta-analysis of European-ancestry and Japanese genome-wide association studies, we identified six loci at genome-wide significance (p −8 ) for serum albumin ( HPN-SCN1B , GCKR-FNDC4 , SERPINF2-WDR81 , TNFRSF11A-ZCCHC2 , FRMD5-WDR76 , and RPS11-FCGRT , in up to 53,190 European-ancestry and 9,380 Japanese individuals) and three loci for total protein ( TNFRS13B , 6q21.3, and ELL2 , in …
An ancestral recombination graph for diploid populations with skewed offspring distribution
2013
A large offspring number diploid biparental multilocus population model of Moran type is our object of study. At each timestep, a pair of diploid individuals drawn uniformly at random contribute offspring to the population. The number of offspring can be large relative to the total population size. Similar `heavily skewed' reproduction mechanisms have been considered by various authors recently. Each diploid parental individual contributes exactly one chromosome to each diploid offspring, and hence ancestral lineages can only coalesce when in distinct individuals. A separation of timescales phenomenon is thus observed. A result of M\"{o}hle (1998) is extended to obtain convergence of the an…
Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci
2012
Background & Aims: A limited number of genetic risk factors have been reported in primary sclerosing cholangitis (PSC). To discover further genetic susceptibility factors for PSC, we followed up on,a second tier of single nucleotide polymorphisms (SNPs) from a genome-wide association study (GWAS). Methods: We analyzed 45 SNPs in 1221 PSC cases and 3508 controls. The association results from the replication analysis and the original GWAS (715 PSC cases and 2962 controls) were combined in a meta-analysis comprising 1936 PSC cases and 6470 controls. We performed an analysis of bile microbial community composition in 39 PSC patients by 16S rRNA sequencing. Results: Seventeen SNPs representing 1…