scholarly journals ColourSpot, a novel gamified tablet-based test for accurate diagnosis of color vision deficiency in young children

2021 ◽  
Author(s):  
Teresa Tang ◽  
Leticia Álvaro ◽  
James Alvarez ◽  
John Maule ◽  
Alice Skelton ◽  
...  
Keyword(s):  
Color Vision ◽  
Validation Cohort ◽  
Accurate Diagnosis ◽  
Control Group ◽  
Discovery Cohort ◽  
Color Vision Deficiency ◽  
Independent Validation ◽  
Fitting Procedure ◽  
Ishihara Test ◽  
High Level

AbstractThere is a need for a straightforward, accessible and accurate pediatric test for color vision deficiency (CVD). We present and evaluate ColourSpot, a self-administered, gamified and color calibrated tablet-based app, which diagnoses CVD from age 4. Children tap colored targets with saturations that are altered adaptively along the three dichromatic confusion lines. Two cohorts (Total, N = 772; Discovery, N = 236; Validation, N = 536) of 4–7-year-old boys were screened using the Ishihara test for Unlettered Persons and the Neitz Test of Color Vision. ColourSpot was evaluated by testing any child who made an error on the Ishihara Unlettered test alongside a randomly selected control group who made no errors. Psychometric functions were fit to the data and “threshold ratios” were calculated as the ratio of tritan to protan or deutan thresholds. Based on the threshold ratios derived using an optimal fitting procedure that best categorized children in the discovery cohort, ColourSpot showed a sensitivity of 1.00 and a specificity of 0.97 for classifying CVD against the Ishihara Unlettered in the independent validation cohort. ColourSpot was also able to categorize individuals with ambiguous results on the Ishihara Unlettered. Compared to the Ishihara Unlettered, the Neitz Test generated an unacceptably high level of false positives. ColourSpot is an accurate test for CVD, which could be used by anyone to diagnose CVD in children from the start of their education. ColourSpot could also have a wider impact: its interface could be adapted for measuring other aspects of children’s visual performance.

Abstract 19: Machine Learning Approach Identifies a Pattern of Gene Expression in Peripheral Blood Which Can Accurately Detect Ischemic Stroke

Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Grant C O’Connell ◽  
Ashley B Petrone ◽  
Madison B Treadway ◽  
Connie S Tennant ◽  
Noelle Lucke-Wold ◽  
...  
Keyword(s):  
Gene Expression ◽  
Machine Learning ◽  
Ischemic Stroke ◽  
Whole Blood ◽  
Validation Cohort ◽  
Gene Expression Pattern ◽  
Discovery Cohort ◽  
Stroke Mimics ◽  
Independent Validation ◽  
Diagnostic Potential

Objective: The identification of stroke-associated biomarkers represents a means by which prehospital triage could be expedited to increase the probability of successful intervention. Thus, the objective of this work was to use high-throughput transcriptomics in combination with basic machine learning techniques to identify a pattern of gene expression in peripheral whole blood which could be used to identify acute ischemic stroke (AIS) in the acute care setting. Methods: A two-stage study design was used which included a discovery cohort and an independent validation cohort. In the discovery cohort, peripheral whole blood samples were obtained from 39 AIS patients upon emergency department admission, and from 24 neurologically asymptomatic controls. Microarray was used to measure the expression of over 22,000 genes and a pattern recognition technique known as genetic algorithm k-nearest neighbors (GA/kNN) identified a pattern of gene expression that optimally discriminated between AIS and controls. In an independent validation cohort, the gene expression pattern was tested for its ability to discriminate between 39 AIS patients and each of two different control groups, one consisting of 30 neurologically asymptomatic controls, and the other consisting of 15 stroke mimics, with gene expression levels being assessed by qRT-PCR. Results: In the discovery cohort, GA/kNN identified ten transcripts (ANTXR2, STK3, PDK4, CD163, MAL, GRAP, ID3, CTSZ, KIF1B, and PLXDC2) whose coordinate pattern of expression correctly identified 98.4% of subjects (97.4% sensitive, 100% specific). In the validation cohort, the same 10 transcripts correctly identified 95.6% of subjects when comparing AIS patients to asymptomatic controls (92.3% sensitive, 100% specific), and 96.3% of subjects when comparing AIS patients to stroke mimics (97.4% specific, 93.3% sensitive). Conclusion: These results demonstrate that a highly accurate RNA-based companion diagnostic for AIS is plausible using a relatively small number of markers. The pattern of gene expression identified in this study shows strong diagnostic potential, and warrants further evaluation to determine true clinical efficacy.

Poorer color discrimination by females when tested with pseudoisochromatic plates containing vanishing designs on neutral backgrounds

2008 ◽  
Vol 25 (3) ◽  
pp. 501-505 ◽  
Author(s):  
RIGMOR C. BARAAS
Keyword(s):  
Color Vision ◽  
Color Discrimination ◽  
Stable Population ◽  
Fourth Edition ◽  
Color Vision Deficiency ◽  
Calculated Frequency ◽  
Color Vision Tests ◽  
Ishihara Test ◽  
Female Carriers

It might be expected that normal trichromatic females would perform as well as normal trichromatic males of the same age when tested with standard clinical color-vision tests that use pseudoisochromatic vanishing designs on neutral gray backgrounds such as the Hardy-Rand-Rittler (HRR) pseudoisochromatic plates and the Neitz Test of Color Vision (NTCV). Here 2966 children aged 6–13 years from four municipalities in Norway were tested in their school classrooms with the NTCV. Children who made errors on the test were retested. 187 males and 152 females made one or more errors on retest, and each was tested individually on the Richmond HRR Fourth Edition. 8% of the males were defined as color deficient when a double criterion for failing was applied, that is, one or more errors on the NTCV and two or more errors on the HRR. The calculated frequency of color-deficient females (homozygotes) for the same criterion is 0.42%. By contrast, 3% of females failed the criterion that gave a stable population of color-deficient males. This result is considered in relation to reports of female carriers of color-vision deficiency having problems with the Ishihara test and of females having poorer color discrimination than males.

scholarly journals α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy

2021 ◽  
Author(s):  
Suman Dutta ◽  
Simon Hornung ◽  
Adira Kruayatidee ◽  
Katherine N. Maina ◽  
Irish del Rosario ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Multiple System Atrophy ◽  
Logistic Model ◽  
Validation Cohort ◽  
High Sensitivity ◽  
Control Group ◽  
Healthy Individuals ◽  
Discovery Cohort ◽  
Multinomial Logistic Model

AbstractThe diagnosis of Parkinson’s disease (PD) and atypical parkinsonian syndromes is difficult due to the lack of reliable, easily accessible biomarkers. Multiple system atrophy (MSA) is a synucleinopathy whose symptoms often overlap with PD. Exosomes isolated from blood by immunoprecipitation using CNS markers provide a window into the brain’s biochemistry and may assist in distinguishing between PD and MSA. Thus, we asked whether α-synuclein (α-syn) in such exosomes could distinguish among healthy individuals, patients with PD, and patients with MSA. We isolated exosomes from the serum or plasma of these three groups by immunoprecipitation using neuronal and oligodendroglial markers in two independent cohorts and measured α-syn in these exosomes using an electrochemiluminescence ELISA. In both cohorts, α-syn concentrations were significantly lower in the control group and significantly higher in the MSA group compared to the PD group. The ratio between α-syn concentrations in putative oligodendroglial exosomes compared to putative neuronal exosomes was a particularly sensitive biomarker for distinguishing between PD and MSA. Combining this ratio with the α-syn concentration itself and the total exosome concentration, a multinomial logistic model trained on the discovery cohort separated PD from MSA with an AUC = 0.902, corresponding to 89.8% sensitivity and 86.0% specificity when applied to the independent validation cohort. The data demonstrate that a minimally invasive blood test measuring α-syn in blood exosomes immunoprecipitated using CNS markers can distinguish between patients with PD and patients with MSA with high sensitivity and specificity. Future optimization and validation of the data by other groups would allow this strategy to become a viable diagnostic test for synucleinopathies.

scholarly journals Prevalence of Color Vision Deficiency among Dental Practitioners and its Effect on Shade Matching Ability

2020 ◽  
Vol 14 (1) ◽  
pp. 539-543
Author(s):  
Abdulhaq Suliman ◽  
Tholfikar Al-Abdali ◽  
Mohammed Taslimi ◽  
Ahmad Abdo
Keyword(s):  
Color Vision ◽  
Dental Students ◽  
Color Vision Deficiency ◽  
Normal Color Vision ◽  
Matching Test ◽  
Dental Practitioners ◽  
Significant Difference ◽  
Ishihara Test ◽  
Shade Matching ◽  
Random Composite

Objective: Shade selection is a crucial step in achieving aesthetically-pleasing restorations, and it is affected by the dentist’s ability to match the shade of the patient’s teeth. Color Deficiency Disease (CVD) has been thought to be a potential factor affecting color perception. The study aims to find the prevalence of CVD between dentists and dental students and to evaluate its effect on shade matching ability. Methods: A sample of 319 dentists and dental students in the College of Dentistry at Ajman University, Ajman, UAE was examined with the Ishihara test to find the prevalence of CVD. Then participants with CVD were tested for shade matching ability, and were compared to participants with normal color vision with the same gender and qualification level. They were asked to match 10 random composite samples with different shades to a custom shade guide made from the same composite material. A score was calculated, representing the number of correct answers they achieved. Results: The results showed that 8 out of 143 males (5.6%) had CVD, and 0 out of 176 females had CVD. There was no significant difference in the score of shade matching test between participants with CVD and participants with normal color vision (p=0.075). Conclusion: Males showed a higher prevalence of color vision deficiency than females. CVD had no significant effect on shade matching ability.

scholarly journals A Combination of CD302 gene Expression and 3-Months BCR-ABL1 Level Predicts Inferior Achievement of Deep Molecular Response in CP-CML Patients Treated with Imatinib

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 663-663
Author(s):  
Chung Hoow Kok ◽  
Liu Liu ◽  
David T Yeung ◽  
Verity A Saunders ◽  
Phuong Dang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Predictive Model ◽  
Research Funding ◽  
Validation Cohort ◽  
Molecular Response ◽  
Discovery Cohort ◽  
Independent Validation ◽  
Poor Risk ◽  
Achievement Rate ◽  
Deep Molecular Response

Introduction and Aim. Achievement of deep molecular response (DMR) is the prerequisite for treatment-free remission in chronic phase CML (CP-CML) patients (pts). Pts who fail to achieve early molecular response (BCR-ABL1 > 10% IS) at 3-months (mths), or have high ELTS score at diagnosis have inferior achievement of DMR. We and others have shown that the levels of NK-cell, T-cell, myeloid-derived suppressor cell, and neutrophils in the blood at diagnosis have an impact on DMR achievement. We hypothesized that Cluster of Differentiation (CD) (cell surface marker) gene expression might provide a surrogate marker to characterize immune cell composition. We aimed to identify pts who had a low probability of achieving DMR by 5 years (yrs) by combining 3-mths BCR-ABL1% and CD gene expression. This may enable clinicians to determine whether an individual patient is on a pathway towards DMR and potentially TFR or should be considered for a different therapeutic approach if TFR is the eventual goal. Methods. 119 blood samples from the imatinib-based TIDEL-II trial were subjected to transcriptomic microarray profiling. A total of 357 CD genes classified by the HUGO Gene Nomenclature Committee CD molecular gene group were assessed. We defined DMR as achieving MR4.5 (BCR-ABL1 < 0.0032%) at two consecutive time points. To construct a predictive model, the samples were randomly assigned to discovery and validation cohorts. Recursive partitioning and construction of a regression tree with tenfold cross-validation based on expression of 357 CD genes and 3-mths BCR-ABL1% were used as inputs in the discovery cohort. The performance was assessed based on accuracy of prediction of DMR by 5 yrs. The final model was validated using the independent validation cohort. All the analysis was performed using R statistical software. Results. Clinical variables (age, gender, ELTS, 3-mths BCR-ABL1%, MMR, and MR4.5) were well matched in the discovery (n=60) and independent validation cohort (n=59). The predictive model was constructed using the discovery cohort to reveal two risk groups: poor-risk (PR, 15% achieving MR4.5 at 5 yrs, n=19), and good-risk (GR, 88% achieving MR4.5 at 5 yrs, n=41) groups (Figure 1A-B). This model classified PR group by BCR-ABL1 ≥ 7.5% at 3 mths OR BCR-ABL1 < 7.5% at 3 months with high CD302 gene expression (≥7.9 log2 gene expression; top 15%) at diagnosis. GR group was defined as having both BCR-ABL1 < 7.5% and low CD302 gene expression (<7.9 log2 gene expression). These variables were chosen by the model based on accuracy performance in predicting DMR. CD302 is a C-type lectin receptor involved in cell adhesion and migration. It is expressed in myeloid populations as well as in blasts and leukemic stem cells (LSC) in AML. High expression of CD302 in PR pts may be a surrogate for increased LSC. The model was validated in the independent validation cohort. Pts identified as PR in the validation cohort had significantly lower 5-yrs MR4.5 achievement rate (14%, n=14) compared to those with GR (82%, n=45, p=0.0002, Figure 1C). We asked whether using the more conventional BCR-ABL1 10% cutoff instead of 7.5% in our model would give similar results, but the performance in predicting long-term DMR achievement was inferior: Pts predicted as PR with this criteria had ~2x higher achievement of DMR (e.g. 26% vs 14% using 3-mths BCR-ABL1 10% vs 7.5% cutoff respectively). ELTS score have been associated with the probability of DMR achievement. We compared the performance of ELTS in combination with 3-mths BCR-ABL1% by replacing CD302 gene expression with ELTS. The predictive accuracy was inferior. Pts with 3-mths BCR-ABL1 ≥7.5% OR BCR-ABL1 <7.5% with high/intermediate ELTS (PR-2) had about 3.3-3.5 fold higher DMR achievement rate than the PR group with CD302 in both discovery and validation cohorts (Figure 1D-E). In contrast, pts with 3-mths BCR-ABL1 <7.5% and low ELTS (GR-2) had approximately 1.1-1.2 fold lower DMR achievement rate than the GR group with CD302 in both discovery and validation cohorts (Figure 1D-E). Conclusion. We have constructed a predictive model for DMR achievement for pts who receive optimised frontline imatinib therapy. This model performs better than combining ELTS and 3-mths BCR-ABL1%. We postulate that this predictive model could enable identification of poor risk pts at 3 mths who would benefit from intensified therapeutic approaches to obtain eligibility for TFR and potentially optimal clinical outcome. Disclosures Yeung: Novartis: Honoraria, Research Funding; BMS: Honoraria, Research Funding; Pfizer: Honoraria; Amgen: Honoraria. Hughes:Novartis: Other: Advisory Board and Symposia, Research Funding; BMS: Research Funding.

ANTICYTOKINE ACTIVITY OF THE PROTOZOA BLASTOCYSTIS SPP

2020 ◽  
pp. 44-48
Author(s):  
Bugero N.V. ◽  
Ilyina N.A. ◽  
Aleksandrova S.M.
Keyword(s):  
Gastrointestinal Tract ◽  
Gastrointestinal Diseases ◽  
Control Group ◽  
Ulcer Disease ◽  
Cytokine Balance ◽  
High Prevalence ◽  
Blastocystis Spp ◽  
High Level ◽  
Eukaryotic Organisms ◽  
High Degree

In addition to the classical pathogens, which are well understood and well identified, new pathogens with the potential to spread epidemiologically are being identified. Some of these little-known organisms are the simplest Blastocystis spp. blastocystostosis. The clinical significance of Blastocystis spp. and its pathogenicity are still under discussion. This parasite belongs to a group of single-celled eukaryotic organisms living in the colon of the human intestine. Blastocystis spp. is known to be found both in people with reduced immune status and in individuals without any clinical manifestation. It has been established that a sufficiently high degree of invasiveness is observed in persons with gastrointestinal tract diseases, dermatosis, allergic reactions, in patients with carriers of the human immunodeficiency virus, etc. Possessing persistence factors, protozoa blastocysts contribute to the inactivation of host defensive mechanisms, providing a stable anthogonistic effect. In recent years, many works have been devoted to the characteristics of the persistent properties of Blastocystis spr., however, individual properties of blastocysts, in particular, anticytokine activity (ACA), have not yet been studied. In this regard, the work studied the anticytokine activity of microorganisms isolated from healthy subjects and patients with gastrointestinal tract diseases. A high prevalence of the studied characteristic in the subjects was shown. The expression of anticytokine activity in the obtained isolates of blastocysts was the highest in the group of persons with gastric ulcer disease, which decreased in the order of duodenal ulcer, chronic cholecystitis, chronic gastritis, etc. The data obtained in this work on the high level of ACA expression in blastocyst isolates obtained from individuals with gastrointestinal diseases as compared with the control group enables to conclude that their exometabolites may influence the local cytokine balance [1], which supports the inflammatory process.

IDENTIFICATION AND ASSESSMENT OF RISK FACTORS ROLE IN MYOCARDIAL INFARCTION DEVELOPMENT

2019 ◽  
Vol 72 (5) ◽  
pp. 779-783
Author(s):  
Victor A. Ognev ◽  
Anna A. Podpriadova ◽  
Anna V. Lisova
Keyword(s):  
Risk Factors ◽  
Myocardial Infarction ◽  
Cardiovascular Disease ◽  
Cardiovascular System ◽  
Control Group ◽  
Biological Factors ◽  
Prevention And Treatment ◽  
High Level ◽  
Social Importance ◽  
The Impact

Introduction:The high level of morbidity and mortality from cardiovascular disease is largely due toinsufficient influence on the main risk factors that contribute to the development of myocardial infarction.Therefore, a detailed study and assessment of risk factors is among the most important problems of medical and social importance. The aim: To study and evaluate the impact of biological, social and hygienic, social and economic, psychological, natural and climatic risk factors on the development of myocardial infarction. Materials and methods: A sociological survey was conducted in 500 people aged 34 to 85. They were divided into two groups. The main group consisted of 310 patients with myocardial infarction. The control group consisted of 190 practically healthy people, identical by age, gender and other parameters, without diseases of the cardiovascular system. Results: It was defined that 30 factors have a significant impact on the development of myocardial infarction.Data analysis revealed that the leading risk factors for myocardial infarction were biological and socio-hygienic. The main biological factors were: hypertension and hypercholesterolemia. The man socio-hygienic factor was smoking. Conclusions: Identification of risk factors provides new opportunities for the development of more effective approaches for the prevention and treatment of myocardial infarction.

Onchocerciasis in Osse, Ondo State, Nigeria: Effectiveness of Motivational Strategies in Sustaining Compliance with Community Ivermectin Therapy

2002 ◽  
Vol 21 (2) ◽  
pp. 177-189
Author(s):  
O. U. Manafa ◽  
T. S. Awolola ◽  
A. N. Isamah
Keyword(s):  
Community Intervention ◽  
Intervention Group ◽  
Control Group ◽  
Group Discussions ◽  
Participant Satisfaction ◽  
Attitudes And Practices ◽  
Ondo State ◽  
Set Up ◽  
High Level ◽  
Knowledge Attitudes And Practices

A study in human Onchocerciasis was undertaken in four endemic communities in Ondo State, Nigeria. In-depth interviews were conducted on peoples' knowledge, attitudes, and practices regarding Onchocerciasis aetiology, treatment, prevention, and symptoms. These were complemented by key informant interviews and focus group discussions. Based on this information, an educational program was set up which included the training of selected villagers (motivators) and community intervention organized by these motivators. Evaluation used a control group where intervention was focused on other health problems in the area. Onchocerciasis education took place only with the intervention group. At the start of the project, peoples' knowledge about Onchocerciasis, its cause, treatment, prevention, and symptoms were varied and only a small proportion could link the bite of the blackfly to Onchocerciasis. The educational intervention achieved a high level of participant satisfaction which was expressed in continuous attendance at workshops and keeping appointments with motivators. The intervention helped to bring a significant improvement in the knowledge, attitudes, and practices (KAP) of the respondents. The knowledge of Onchocerciasis aetiology increased to 79.8 percent, 71.5 percent, and 74 percent from 48.5 percent, 48.7 percent, 34 percent, and 45 percent pre-intervention in the four study areas used. The project demonstrated that a community-based health education can be effective in Onchocerciasis control.

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