Instability patterns between counter-rotating disks

International audienceThe instability patterns in the flow between counter-rotating disks (radius to height ratio R/h from 3.8 to 20.9) are investigated experimentally by means of visualization and Particle Image Velocimetry. We restrict ourselves to the situation where the boundary layers remain stable, focusing on the shear layer instability that occurs only in the counter-rotating regime. The associated pattern is a combination of a circular chain of vortices, as observed by Lopez et al. (2002) at low aspect ratio, surrounded by a set of spiral arms, first described by Gauthier et al. (2002) in the case of high aspect ratio. Stability curve and critical modes are measured for the whole range of aspect ratios. From the measurement of a local Reynolds number based on the shear layer thickness, evidence is given that a free shear layer instability, with only weak curvature effect, is responsible for the observed patterns. Accordingly, the number of vortices is shown to scale as the shear layer radius, which results from the competition between the centrifugal effects of each disk

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

<p>Abstract</p> <p>Background</p> <p>Most software packages for whole genome association studies are non-graphical, purely text based programs originally designed to run with UNIX-like operating systems. Graphical output is often not intended or supposed to be performed with other command line tools, e.g. gnuplot.</p> <p>Results</p> <p>Using the Microsoft .NET 2.0 platform and Visual Studio 2005, we have created a graphical software package to analyze data from microarray whole genome association studies, both for a DNA-pooling based approach as well as regular single sample data. Part of this package was made to integrate with GenePool 0.8.2, a previously existing software suite for GNU/Linux systems, which we have modified to run in a Microsoft Windows environment. Further modifications cause it to generate some additional data. This enables GenePool to interact with the .NET parts created by us. The programs we developed are GPFrontend, a graphical user interface and frontend to use GenePool and create metadata files for it, and GPGraphics, a program to further analyze and graphically evaluate output of different WGA analysis programs, among them also GenePool.</p> <p>Conclusions</p> <p>Our programs enable regular MS Windows users without much experience in bioinformatics to easily visualize whole genome data from a variety of sources.</p

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

<p>Abstract</p> <p>Background</p> <p>Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of glaucoma. Therefore, mitochondrial DNA is a promising candidate for genetic susceptibility studies on glaucoma. To test the hypothesis that mitochondrial haplogroups influence the risk to develop glaucoma, we genotyped 12 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in healthy controls and two German patient cohorts with either exfoliation glaucoma or the normal tension subgroup of primary open angle glaucoma.</p> <p>Results</p> <p>Mitochondrial haplogroup U was significantly under-represented in patients with exfoliation glaucoma (8.3% compared with 18.9% in controls; p = 0.004).</p> <p>Conclusions</p> <p>People with haplogroup U have a lower risk to develop exfoliation glaucoma. Our results substantiate the suggestion that mitochondrial alterations have an impact on the etiology of glaucoma.</p

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P=6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1 and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci

Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

10.1371/journal.pgen.1002611PLoS Genetics85

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study helps to better understand underlying genetic and molecular mechanisms that regulate intraocular pressure, and identifies a new candidate gene, Cacna2d1, that modulates intraocular pressure and a promising therapeutic, pregabalin, which binds to CACNA2D1 protein and lowers intraocular pressure significantly. Because our study utilizes a genetically diverse population of mice with kno

Climate change adaptation strategies in forest management: use of a decision support system for a district forest plan

The forest planning understood as mere management of stands for wood production has currently lost, compared to the past, its relevance and application possibilities; therefore, it is necessary to focus on the multifunctional services of forests. Here we present a synthesis of a district forest plan which has been developed through five pillars: (a) mapping of potential forest ecosystem services, (b) involving local stakeholders and experts, (c) exploring strategic scenarios of forest yield, (d) mapping homogeneous forest zones, and (e) capitalising the knowledge of forest working plans. The experts contributed through a decision support system NetSyMoD (Network Analysis-Creative System Modelling-Decision Support) which helps the decision process in the assessment of the scenarios of forest yield. It was possible to appreciate that an increase of yield suits well to climate adaptation in some forest zone and with the contents of forest working plans. This approach may be replicated in other forest districts where there is an history in the application of silvicultural control methods

Retinoic acid regulates avian lung branching through a molecular network

Retinoic acid (RA) is of major importance during vertebrate embryonic development and its levels need to be strictly regulated otherwise congenital malformations will develop. Through the action of specific nuclear receptors, named RAR/RXR, RA regulates the expression of genes that eventually influence proliferation and tissue patterning. RA has been described as crucial for different stages of mammalian lung morphogenesis, and as part of a complex molecular network that contributes to precise organogenesis; nonetheless, nothing is known about its role in avian lung development. The current report characterizes, for the first time, the expression pattern of RA signaling members (stra6, raldh2, raldh3, cyp26a1, rar alpha, and rar beta) and potential RA downstream targets (sox2, sox9, meis1, meis2, tgf beta 2, and id2) by in situ hybridization. In the attempt of unveiling the role of RA in chick lung branching, in vitro lung explants were performed. Supplementation studies revealed that RA stimulates lung branching in a dose-dependent manner. Moreover, the expression levels of cyp26a1, sox2, sox9, rar beta, meis2, hoxb5, tgf beta 2, id2, fgf10, fgfr2, and shh were evaluated after RA treatment to disclose a putative molecular network underlying RA effect. In situ hybridization analysis showed that RA is able to alter cyp26a1, sox9, tgf beta 2, and id2 spatial distribution; to increase rar beta, meis2, and hoxb5 expression levels; and has a very modest effect on sox2, fgf10, fgfr2, and shh expression levels. Overall, these findings support a role for RA in the proximal-distal patterning and branching morphogenesis of the avian lung and reveal intricate molecular interactions that ultimately orchestrate branching morphogenesis.The authors would like to thank Ana Lima for slide sectioning and Rita Lopes for contributing to the initiation of this project. This work has been funded by FEDER funds, through the Competitiveness Factors Operational Programme (COMPETE), and by National funds, through the Foundation for Science and Technology (FCT), under the scope of the Project POCI-01-0145-FEDER-007038; and by the Project NORTE-01-0145- FEDER-000013, supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.info:eu-repo/semantics/publishedVersio

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

Note: In lieu of an abstract, this is an excerpt from the first page. In the special issue “Molecular Genetics of Retinal Dystrophies”, Morales–Cámara and colleagues reported the association of a new candidate gene with primary congenital glaucoma (PCG) [...

From multiple measles genotype D8 introductions in 2024 to sustained B3 local transmission in and around Milan, northern Italy, January to April 2025

In 2024, the Metropolitan City of Milan and surrounding areas in northern Italy (ca 4 million people) experienced a measles epidemic caused by multiple introductions of different genotype D8 lineages, which led to small outbreaks, mostly linked to importation events and/or vulnerable population groups, without evidence of sustained local circulation [1]. As Subnational Reference Laboratory of the Italian measles and rubella surveillance network (MoRoNet), we now report a new surge of measles in the same area in 2025, driven by a unique lineage of genotype B3, causing locally acquired cases