184 research outputs found
Unilateral congenital non-syndromic retinal vessel dilation and tortuosity
Purpose: To present a case of atypical unilateral developmental retinal vascular anomaly. Observations: A 10-year-old girl presented to her paediatrician after an absent red reflex was noted in a photograph. She had right anisometropic amblyopia and right iris heterochromia, but was otherwise healthy, with no visual complaints. Fundus examination revealed abnormal right retinal vasculature in keeping with an arteriovenous malformation (AVM). OCTA performed at age 16, showed large aberrant veins in the right eye, whereas OCTA B-Scans showed that the same eye had significantly higher retinal blood perfusion than the unaffected eye. Conclusions and Importance: OCTA is a valuable, non-invasive emerging method of evaluating patients with AVMs, with this patient having a unique unilateral presentation of a developmental anomaly, without evidence of progression or other vessel malformation. OCTA allowed assessment of flow between the affected and non-affected eye, quantifying the greater blood perfusion in the affected eye due to the AVM
Site Response of Organic Soils
A primary source of uncertainty in any evaluation of the seismic stability of the Sacramento-San Joaquin Delta levee system is the site response characteristics of the shallow organic soils that commonly underlay the levees. This paper provides an overview of recent research on the site response characteristics of organic soils using centrifuge and numerical modeling. The centrifuge modeling effort included the development of techniques to measure the shear wave velocity profile for a centrifuge model while in-flight. One-dimensional site response analyses using an equivalent linear procedure were performed with the measured shear wave velocity profiles and the modulus reduction and damping relationships determined from prior laboratory studies. Good agreement was obtained between the numerical simulations and the centrifuge model recordings
Drought and Vegetation Monitoring Using Geographic Information System and Remote Sensing in Rajasthan, India
Rainfall of Rajasthan is variable, seasonal, and unevenly distributed resultingfrequent occurrence of droughts, aridity and degradation of vegetation growth. Frequentoccurrences of droughts in Rajasthan have resulted in significant economical losses,ecological degradation and environmental deterioration. The objectives of the study are toassess potential of long-term time series of vegetation index from Advanced Very HighResolution Radiometer (AVHRR) as descriptor of drought, to study the spatial andtemporal pattern of drought and to analyze vegetation trends using long-tem NDVI fromAVHRR for drought and desertification monitoring. The NOAA-AVHRR 15 dayscomposites of GIMMS NDVI for 28 years (from1983), monthly rainfall data for the same28-years period over 102 rain gage stations and the crop statistics were used in this study.To monitor the drought and vegetation greenness variability annual, seasonal and monthlyNDVI and its mean, standard deviation, and NDVI Anomaly Index (NAI), integral NDVI(iNDVI) and rainfall ratio were computed in pixel level. To study the spatial and temporalpattern of meteorological drought condition, standardized precipitation index (SPI) werecomputed at different time scale for all 102 rain gauge stations and then SPI results wereinterpolated. The spatial pattern SPI during drought years are having higher negativeanomaly from July to September in greater part of Rajasthan. In 2000 drought, an extremevalue of SPI reaches up to -3.69 in September and –2.84 in August, which exhibits theseverity of drought condition. The trend and linear association between NAI and SPIshowed that there is a significantly strong high positive correlation in October in all agroecologicalzones in Rajasthan. The correlation between iNDVI (biomass) and rainfallreveal that, the relationship is relatively strong (>0.5) in the hyper arid and arid districts(i.e Jaisalmer, Bikaner, Churu), The trends of integral NDVI/RF ratio results suggest thatabout 35 % of study area has experienced decreasing trends of vegetation growth, ongoingdegradation, and desertification process.Key words: AVHRR, NDVI, Vegetation, NAI, Drought, SPI
Use of whole-genus genome sequence data to develop a multilocus sequence typing tool that accurately identifies Yersinia isolates to the species and subspecies levels
The genus Yersinia is a large and diverse bacterial genus consisting of human-pathogenic species, a fish-pathogenic species, and a large number of environmental species. Recently, the phylogenetic and population structure of the entire genus was elucidated through the genome sequence data of 241 strains encompassing every known species in the genus. Here we report the mining of this enormous data set to create a multilocus sequence typing-based scheme that can identify Yersinia strains to the species level to a level of resolution equal to that for whole-genome sequencing. Our assay is designed to be able to accurately subtype the important human-pathogenic species Yersinia enterocolitica to whole-genome resolution levels. We also report the validation of the scheme on 386 strains from reference laboratory collections across Europe. We propose that the scheme is an important molecular typing system to allow accurate and reproducible identification of Yersinia isolates to the species level, a process often inconsistent in nonspecialist laboratories. Additionally, our assay is the most phylogenetically informative typing scheme available for Y. enterocolitica
Impact of absorption in the top layer of a two layer sample on spectroscopic spectral domain interferometry of the bottom layer
Spectroscopic spectral domain interferometry and spectroscopic optical coherence tomography combine depth information with spectrally-resolved localised absorption data. These additional data can improve diagnostics by giving access to functional information of the investigated sample. One possible application is measuring oxygenation levels at the retina for earlier detection of several eye diseases. Here measurements with different hollow glass tube phantoms are shown to measure the impact of a superficial absorbing layer on the precision of reconstructed attenuation spectra of a deeper layer. Measurements show that a superficial absorber has no impact on the reconstructed absorption spectrum of the deeper absorber. Even when diluting the concentration of the deeper absorber so far that an incorrect absorption maximum is obtained, still no influence of the superficially placed absorber is identified
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What are the psychosocial outcomes of treatment for thyroid eye disease? A systematic review
Background: Thyroid eye disease (TED) causes a number of esthetic and visual problems and its treatment requires close clinical assessment, often for several years. There is evidence to suggest that clinical factors are poor indicators of patient-reported outcomes after treatments that aim to improve appearance, vision, or both. Psychosocial factors can impact on both adjustment to living with TED and also patients’ perceptions of their improvements after treatment. There has been growing recognition that it is essential to evaluate treatment efficacy in terms of psychosocial outcomes but, to date, there has been no review that has systematically evaluated psychosocial outcomes following a variety of treatments for TED.
Summary: Fifteen studies were included in the review and 6 were randomized controlled trials (RCTs). The studies varied greatly in methodological rigor; whilst major treatments such as surgery do improve quality of life outcomes, other non-invasive treatments such as intravenous steroids can have a similar impact and show long-term benefits. Only 3 studies reviewed orbital decompressive surgery which showed better psychosocial outcomes than other types of surgery.
Conclusions: The effect of some treatments remains unclear due to poor methodology and poor reporting of results. Clinicians need to be aware when planning rehabilitative treatments such as surgery the influence of psychosocial factors on quality of life outcomes and the lack of a relationship with clinical factors such as disease severity
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
Abstract
Background
Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD.
Methods
We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD.
Results
We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 × 10−03; FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten “CNV positive” trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4.
Conclusions
Our findings suggest that rare CNVs may contribute to the etiology of OCD.http://deepblue.lib.umich.edu/bitstream/2027.42/134675/1/11689_2016_Article_9170.pd
Temporal profiling of<i>Salmonella</i>transcriptional dynamics during macrophage infection using a comprehensive reporter library
AbstractThe transcriptome ofSalmonella entericaserovar Typhimurium (S. Tm) dynamically responds to the rapid environmental shifts intrinsic toS.Tm lifestyle, exemplified by entry into theSalmonella-containing vacuole (SCV) within macrophages. IntracellularS. Tm must respond to the acidity of the SCV, accumulation of reactive oxygen/nitrogen species, and fluctuations in nutrient availability. Despite thorough RNA-seq-based investigations, the precise transcriptional timing of the expression of many secretion systems, metabolic pathways, and virulence effectors involved in infection has yet to be elucidated. Here, we construct a comprehensive library of GFP-reporter strains representing ∼3,000 computationally identifiedS.Tm promoter regions to study the dynamics of transcriptional regulation. We quantified promoter activity duringin vitrogrowth in defined and complex media and throughout the timeline of intracellular infection of RAW 246.7 macrophages. Using bulk measurements and single-cell imaging, we uncovered condition-specific transcriptional regulation and population-level heterogeneity in the activity of virulence-related promoters, including SPI2 genes such asssaRandssaG. We discovered previously unidentified transcriptional activity from 234 genes, including ones with novel activity during infection that are associated with pathogenecity islands and are involved in metabolism and metal homeostasis. Our library and data sets should provide powerful resources for systems-level interrogation ofSalmonellatranscriptional dynamics.</jats:p
Intravitreal aflibercept for diabetic macular oedema: Moorfields’ real-world 12-month visual acuity and anatomical outcomes
OBJECTIVES:: To assess structural and functional outcomes of treatment with intravitreal aflibercept (Eylea®) for diabetic macular oedema in treatment-naive patients. DESIGN:: This is a retrospective, real-life, cohort study. PARTICIPANTS AND METHODS:: In all, 92 diabetic patients (102 eyes) receiving intravitreal anti-vascular endothelial growth factor therapy were included. A total of 99 aflibercept-treated eyes were included in the statistical analysis. Each patient had corrected visual acuity in Early Treatment Diabetic Retinopathy Study letters and optical coherence tomography central foveal thickness and macular volume performed at baseline and 12 months. Patients were initiated on a loading phase of five monthly intravitreal aflibercept injections, followed by injections if needed as per clinicians' discretion. RESULTS:: The mean number of aflibercept injections received was 6.92. At baseline, the mean visual acuity (standard deviation; Snellen) was 59.7 (16.1) (20/63) Early Treatment Diabetic Retinopathy Study letters, the mean central foveal thickness (standard deviation) was 431 (129) µm, while the mean macular volume (standard deviation) was 9.53 (1.79) mm3. At 12 months, the mean visual acuity (standard deviation; Snellen) was 69.6 (15.2; 20/40) Early Treatment Diabetic Retinopathy Study letters (p < .0001). Mean central foveal thickness (standard deviation) was 306 (122) μm (p < .0001) and mean macular volume (standard deviation) was 8.43 (1.58) mm3 (p < .0001) at 12 months; 33 (33.67%) eyes gained ⩾15 Early Treatment Diabetic Retinopathy Study letters at month 12, and 50 (55.55%) eyes had a decrease in central foveal thickness of ⩾100 µm. CONCLUSION:: There was a significant improvement in visual acuity and in anatomical outcomes in aflibercept-treated eyes at 12 months after commencing treatment for diabetic macular oedema in real-life settings
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