6 research outputs found
The role of the soluble antigens in the multiplication of the tobacco mosaic virus.
Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe
Un essai d'infection directe des cellules du parenchyme de la feuille de tabac à l'aide de virus de la mosaïque marqué par le 14C et le 32P; sort du virus.
Tobacco mosaic virus labelled with 32P and 14C is infiltrated in the intercellular spaces of leaves where it enters in contact with the parenchyme cells. After 48 hours, an important part of the 32P and 14C of the virus is found incorporated in intracellular organites. The ratio of the amounts of 14C and 32P present in these organites is identical with that of the initially infiltrated virus. On the other hand, the normal proteins and the free amino acids are not labelled by 14C. It seems therefore that the infiltrated virus has penetrated within the cells. However, the infiltrated virus does not multiply. This last fact could be explained by the necessity for virus multiplication of an initial activation, possible only by the contact with the epidermal cells. © 1995.Journal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe
MULTIMODAL IMAGING IN HELLP-RELATED CHORIORETINOPATHY
Purpose:To illustrate with multimodal imaging a case of HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) complicated by bilateral multifocal serous retinal detachments, subretinal exudation, and papilledema.Methods:Case report. Fundus photography, spectral domain optical coherence tomography (SD-OCT), fluorescein angiography, and indocyanine green angiography were performed at presentation and the day after. We also present the SD-OCT follow-up at 8 days, 1 year, and 4 years.Results:A 25-year-old 5-month-pregnant Guinean woman complained about decreased visual acuity in the right eye. Eye fundus and multimodal imaging were abnormal in both eyes. Spectral domain optical coherence tomography showed the presence of multifocal serous retinal detachments, subretinal deposits, and intraretinal cysts. Indocyanin green angiography revealed an irregular choroidal perfusion and localized choroidal ischemia. Spectral domain optical coherence tomography also provided assessment of retinal changes during the long-term follow-up, showing tissue damage in the outer retina.Conclusion:Serous retinal detachments during pregnancy can be the leading sign of HELLP syndrome - a potentially life-threatening condition. Spectral domain optical coherence tomography is a noninvasive and useful tool for its diagnosis and follow-up. ICG is important to confirm the choroidal ischemia and choroidal vascular abnormalities, underlying conditions leading to main sign of HELLP syndrome in the eye.SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.
Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.
Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes.
Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved
Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts
We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.info:eu-repo/semantics/publishe