Bilateral stellate neuroretinitis revealing a pheochromocytoma

Neuroretinitis (NR) is an inflammatory disorder characterized by optic disc  edema and subsequent formation of a macular star. We present a case of a 33 year old woman patient admitted for a progressive bilateral visual loss since two weeks. Fundus examination showed bilateral stellate neuroretinitis. Physical examination revealed a malignant hypertension of 210/150mmHg. Magnetic resonance imaging identified a left suprarenal mass, whereas urinary catecholamine level was abnormally high which supported a diagnosis of pheochromocytoma.The patient underwent a laparoscopic left suprarenal adrenalectomy after successful control of blood pressure. histopathologic examination confirmed the diagnosis of pheochromocytoma. Visual acuity was restored and the retinal alterations disappeared 7 months after surgery

Clique-Finding for Heterogeneity and Multidimensionality in Biomarker Epidemiology Research: The CHAMBER Algorithm

Commonly-occurring disease etiology may involve complex combinations of genes and exposures resulting in etiologic heterogeneity. We present a computational algorithm that employs clique-finding for heterogeneity and multidimensionality in biomedical and epidemiological research (the "CHAMBER" algorithm).This algorithm uses graph-building to (1) identify genetic variants that influence disease risk and (2) predict individuals at risk for disease based on inherited genotype. We use a set-covering algorithm to identify optimal cliques and a Boolean function that identifies etiologically heterogeneous groups of individuals. We evaluated this approach using simulated case-control genotype-disease associations involving two- and four-gene patterns. The CHAMBER algorithm correctly identified these simulated etiologies. We also used two population-based case-control studies of breast and endometrial cancer in African American and Caucasian women considering data on genotypes involved in steroid hormone metabolism. We identified novel patterns in both cancer sites that involved genes that sulfate or glucuronidate estrogens or catecholestrogens. These associations were consistent with the hypothesized biological functions of these genes. We also identified cliques representing the joint effect of multiple candidate genes in all groups, suggesting the existence of biologically plausible combinations of hormone metabolism genes in both breast and endometrial cancer in both races.The CHAMBER algorithm may have utility in exploring the multifactorial etiology and etiologic heterogeneity in complex disease

Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions

Lipid levels in plasma strongly influence the risk for coronary heart disease. To localise and subsequently identify genes affecting lipid levels, we performed four genome-wide linkage scans followed by combined linkage/association analysis. Genome-scans were performed in 701 dizygotic twin pairs from four samples with data on plasma levels of HDL- and LDL-cholesterol and their major protein constituents, apolipoprotein AI (ApoAI) and Apolipoprotein B (ApoB). To maximise power, the genome scans were analysed simultaneously using a well-established meta-analysis method that was newly applied to linkage analysis. Overall LOD scores were estimated using the means of the sample-specific quantitative trait locus (QTL) effects inversely weighted by the standard errors obtained using an inverse regression method. Possible heterogeneity was accounted for with a random effects model. Suggestive linkage for HDL-C was observed on 8p23.1 and 12q21.2 and for ApoAI on 1q21.3. For LDL-C and ApoB, linkage regions frequently coincided (2p24.1, 2q32.1, 19p13.2 and 19q13.31). Six of the putative QTLs replicated previous findings. After fine mapping, three maximum LOD scores mapped within 1cM of major candidate genes, namely APOB (LOD =2.1), LDLR (LOD =1.9) and APOE (LOD =1.7). APOB haplotypes explained 27% of the QTL effect observed for LDL-C on 2p24.1 and reduced the LOD-score by 0.82. Accounting for the effect of the LDLR and APOE haplotypes did not change the LOD score close to the LDLR gene but abolished the linkage signal at the APOE gene. In conclusion, application of a new meta-analysis approach maximised the power to detect QTLs for lipid levels and improved the precision of their location estimate. © 2005 Nature Publishing Group. All rights reserved

An information-theoretic analysis of genetics, gender and age in cancer patients

Peer reviewe

Le glaucome congénital

Introduction : Le glaucome congénital (GC) représente une affection oculaire grave puisque c’est une des causes majeures de cécité irréversible de l’enfant. C’est une urgence diagnostique et thérapeutique. Son incidence dans le monde varie de 1/22000 à 1/2500. Le substratum génétique est indéniable avec une transmission récessive autosomique. Les éléments cliniques majeurs sont la buphtalmie avec mégalocornée et l’hypertonie intra-oculaire. L’examen clinique détaillé permettra de classer le glaucome congénital selon les anomalies anatomiques associés et la gravité. L’arsenal thérapeutique est varié mais la prise en charge reste essentiellement chirurgicale. A travers cette mise au point nous allons mettre en exergue les éléments essentiels du glaucome congénital sur le plan diagnostique ainsi que thérapeutique

La choriorétinopathie séreuse centrale et le stress

Introduction : L’objectif de notre étude est d’évaluer le stress psychologique comme facteur de risque de la chorio-rétinopathie séreuse centrale (CRSC) en utilisant l’échelle du stress perçu PSS-10.Méthodes : Étude prospective cas-témoins comparant le score de stress du PSS-10 chez les patients ayant la CRSC et chez des patients contrôles ayant une atteinte oculaire autre que la CRSC.Résultats : 13 cas diagnostiqués comme ayant une CRSC unilatérale entre Janvier 2012 et Janvier 2016 ont été inclus et apparentés pour l’âge et le sexe avec des cas contrôls. Le score moyen du PSS-10 items est 26, 38 (SD=5, 08) et 22, 62 (SD=3, 02) pour les cas et les témoins respectivement avec une différence statistiquement significative (p = 0.001).Conclusion : Nos résultats indiquent que le stress est un facteur de risque de la CRSC

Single Crystal Investigations, Hirshfeld Surface Analysis, DFT Studies, Molecular Docking, Physico-Chemical Characterization, and Biological Activity of a Novel Non-Centrosymmetric Compound with a Copper Transition Metal Precursor

International audienceA novel organic-inorganic hybrid non-centrosymtetrachlorocuprate(II)] has been synthesized and investigated by means of Fourier transform infrared spectroscopy, single-crystal Xray crystallography, thermal analyses, and density functional theory (DFT) studies. The single-crystal X-ray analysis indicates that the studied compound crystallizes in the P2(1)2(1)2(1) orthorhombic space group. Hirshfeld surface analyses have been used to investigate non-covalent interactions. Organic cations [C6H16N2](2+) and inorganic moieties [CuCl4](2-) alternatively connect N-H center dot center dot center dot Cl and C-H center dot center dot center dot Cl hydrogen bonds. In addition, the energies of the frontier orbitals, highest occupied molecular orbital, lowest unoccupied molecular orbital, the reduced density gradient analyses and quantum theory of atoms in molecules analyses, and the natural bonding orbital are also studied. Furthermore, the optical absorption and photoluminescence properties were also explored. However, time-dependent/DFT computations were utilized to examine the photoluminescence and UV-vis absorption characteristics. Two different methods, 2, 2-diphenyl-1-picryhydrazyl radical and 2,2-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid radical scavenging, were used to evaluate the antioxidant activity of the studied material. Furthermore, the title material was docked to the SARS-CoV-2 variant (B.1.1.529) in silico to study the noncovalent interaction of the cuprate(II) complex with active amino acids in the spike protein