scholarly journals Urine metabolites for the identification of Onchocerca volvulus infections in patients from Cameroon

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Vera Wewer ◽  
Helga Peisker ◽  
Katharina Gutbrod ◽  
Mazen Al-Bahra ◽  
Dirk Menche ◽  
...  
Keyword(s):  
High Throughput Screening ◽  
Screening Program ◽  
Drug Application ◽  
Onchocerca Volvulus ◽  
Diagnostic Tools ◽  
Multiple Infections ◽  
Data Set ◽  
Urine Metabolites ◽  
Screening Programs ◽  
Filarial Nematodes

Abstract Background The tropical disease onchocerciasis (river blindness), caused by Onchocerca volvulus filarial nematodes, is targeted for elimination by mass treatment with nematocidal and antimicrobial drugs. Diagnosis of O. volvulus infections is based on counts of skin-borne microfilariae, but additional diagnostic tools, e.g. worm- or host-derived small RNAs, proteins or metabolites, are required for high-throughput screening. N-acetyltyramine-O,β-glucuronide (NATOG) was suggested as a biomarker for onchocerciasis but its viability as diagnostic tool has been challenged. Methods We performed a screening program of urine samples from individuals from Cameroon infected with O. volvulus, Loa loa, Mansonella perstans or a combination thereof. Urine metabolites were measured by liquid chromatography–mass spectrometry (LC-MS). Principle component analysis (PCA) revealed that onchocerciasis causes complex changes of the urine metabolome. Results The mean NATOG content was elevated in urine of O. volvulus-infected compared with non-infected individuals, but NATOG levels showed considerable variation. However, 13.8% of all O. volvulus-infected individuals had high NATOG levels never reached by individuals without filarial infections or only infected with L. loa or M. perstans. Therefore, the identification of individuals with high NATOG levels might be used to screen for the elimination of onchocerciasis after mass drug application. Additional metabolites, including a compound identified as cinnamoylglycine, had high PC1/PC2 loadings in the data set. Mean levels of cinnamoylglycine were increased in O. volvulus-infected individuals, and 17.2% of all O. volvulus individuals had elevated cinnamoylglycine levels not reached by the controls. Conclusions On an individual level, NATOG alone had poor discriminative power distinguishing infected from non-infected individuals. However, 13.8% of all O. volvulus-infected individuals had NATOG levels never reached by individuals without filarial infections or infected with only L. loa or M. perstans. Discrimination of O. volvulus infections from controls or individuals suffering from multiple infections was improved by the measurement of additional metabolites, e.g. cinnamoylglycine. Thus, measuring a combination of urine metabolites may provide a way to assess onchocerciasis on the population level. This provides the possibility to design a strategy for large-scale onchocerciasis epidemiological screening programs based on urine rather than invasive techniques. Graphical abstract

High-throughput screening program for botanical extracts

Planta Medica ◽  
2012 ◽  
Vol 78 (11) ◽  
Author(s):  
L Hingorani ◽  
NP Seeram ◽  
B Ebersole
Keyword(s):  
High Throughput ◽  
High Throughput Screening ◽  
Screening Program ◽  
Botanical Extracts

Human Papillomavirus Selected Properties and Related Cervical Cancer Prevention Issues

2020 ◽  
Vol 26 (18) ◽  
pp. 2073-2086
Author(s):  
Saule Balmagambetova ◽  
Andrea Tinelli ◽  
Ospan A. Mynbaev ◽  
Arip Koyshybaev ◽  
Olzhas Urazayev ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Cancer Prevention ◽  
Screening Program ◽  
Hpv Infection ◽  
Cervical Cancer Prevention ◽  
Point Of View ◽  
Prevention Strategies ◽  
Middle Income ◽  
Screening Programs

High-risk human papillomavirus strains are widely known to be the causative agents responsible for cervical cancer development. Aggregated damage caused by papillomaviruses solely is estimated in at least 5% of all malignancies of the human body and 16% in cancers that affect the female genital area. Enhanced understanding of the complex issue on how the high extent of carcinogenicity is eventually formed due to the infection by the Papoviridae family would contribute to enhancing current prevention strategies not only towards cervical cancer, but also other HPV associated cancers. This review article is aimed at presenting the key points in two directions: the current cervical cancer prevention and related aspects of HPV behavior. Virtually all applied technologies related to HPV diagnostics and screening programs, such as HPV tests, colposcopy-based tests (VIA/VILI), conventional and liquid-based cytology, currently available are presented. Issues of availability, advantages, and drawbacks of the screening programs, as well as vaccination strategies, are also reviewed in the article based on the analyzed sources. The current point of view regarding HPV is discussed with emphasis on the most problematic aspect of the HPV family concerning the observed increasing number of highly carcinogenic types. Present trends in HPV infection diagnostics throughout the human fluids and tissues are also reported, including the latest novelties in this field, such as HPV assay/self-sample device combinations. Besides, a brief outline of the related prevention issues in Kazakhstan, the leading country of Central Asia, is presented. Kazakhstan, as one of the post-soviet middle-income countries, may serve as an example of the current situation in those terrains, concerning the implementation of globally accepted cervical cancer prevention strategies. Along with positive achievements, such as the development of a nationwide screening program, a range of drawbacks is also analyzed and discussed.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Epidemiological Findings of Refractive Errors and Amblyopia among the Schoolchildren in Hatta Region of the United Arab Emirates

2021 ◽  
pp. 1-7
Author(s):  
Salam Chettian Kandi ◽  
Hayat Ahmad Khan
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
United Arab Emirates ◽  
Refractive Error ◽  
Screening Program ◽  
Low Vision ◽  
Refractive Errors ◽  
Vision Screening ◽  
Screening Programs ◽  
School Based

<b><i>Introduction:</i></b> Uncorrected refractive errors and amblyopia pose a major problem affecting schoolchildren. We had previously observed that many schoolchildren in the Hatta region presented to the ophthalmology clinic with uncorrected refractive errors and amblyopia, which led us to undertake this research. As per the WHO, the term “visual impairment” can be “low vision” or “blindness.” Based on the presenting vision, “low vision” is defined for children who have vision of &#x3c;6/18 to 3/60 or having visual field loss to &#x3c;20° in the better-seeing eye. Children defined to have “blindness” have presenting vision of &#x3c;3/60 or corresponding visual field of &#x3c;10°. <b><i>Purpose:</i></b> To estimate the magnitude of uncorrected refractive errors and amblyopia among the schoolchildren aged 6–19 years and to assess the efficacy of school-based refractive error screening programs in the Hatta region of the United Arab Emirates. <b><i>Methods:</i></b> An epidemiological, cross-sectional, descriptive study was conducted on the entire student population studying in the government schools of the region. Those who failed the Snellen visual acuity chart test and those who were wearing spectacles were evaluated comprehensively by the researcher in the Department of Ophthalmology of the Hatta Hospital. Data were entered in the Refractive Error Study in School Children (RESC) eye examination form recommended by the WHO, and were later transferred to Excel sheets and analyzed by SPSS. <b><i>Results:</i></b> 1,591 students were screened and evaluated from the end of 2016 to mid-2017. About 21.37% (<i>n</i> = 340) had impaired vision with 20.9% (<i>n</i> = 333) refractive errors, of which 58% were uncorrected. Among the refractive error group, 19% (64 subjects) had amblyopia (4% of total students). The incidence of low vision was 9.5% and blindness was 0.38%. Low vision was found to be 9.5% and blindness 0.38%, taking in to account presenting visual acuity rather than best-corrected visual acuity for defining low vision and blindness. <b><i>Conclusion:</i></b> A significant number of students were detected to have uncorrected refractive errors among the vision impaired group (59%, <i>n</i> = 197) despite a school-based vision screening program in place. Seventy-eight percent of the amblyopia cases (<i>n</i> = 50) were found to be in the 11–19 years age group. Noncompliance with optical corrections was the reason for the high number of cases. A rigorous vision screening program and refractive services, complimented with awareness among parents and teachers, are recommended.

scholarly journals To do or not to do – a survey study on factors associated with participating in the Danish screening program for colorectal cancer

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jesper Bo Nielsen ◽  
Gabriele Berg-Beckhoff ◽  
Anja Leppin
Keyword(s):  
Colorectal Cancer ◽  
Screening Program ◽  
Demographic Data ◽  
Survey Study ◽  
Stepwise Logistic Regression ◽  
Willingness To Participate ◽  
Cross Sectional Survey ◽  
Screening Programs ◽  
Crc Screening ◽  
Screening Participation

Abstract Background Screening programs for colorectal cancer (CRC) exist in many countries, and with varying participation rates. The present study aimed at identifying socio-demographic factors for accepting a cost-free screening offer for CRC in Denmark, and to study if more people would accept the screening offer if the present fecal test was replaced by a blood test. Methods We used a cross-sectional survey design based on a representative group of 6807 Danish citizens aged 50–80 years returning a fully answered web-based questionnaire with socio-demographic data added from national registries. Data were analyzed in STATA and based on bivariate analyses followed by regression models. Results Danes in general have a high level of lifetime participation (+ 80%) in the national CRC screening program. The results of the stepwise logistic regression model to predict CRC screening participation demonstrated that female gender, higher age, higher income, and moderate alcohol intake were positively associated with screening participation, whereas a negative association was observed for higher educational attainment, obesity, being a smoker, and higher willingness to take health risks. Of the 1026 respondents not accepting the screening offer, 61% were willing to reconsider their initial negative response if the fecal sampling procedure were replaced by blood sampling. Conclusion The CRC screening program intends to include the entire population within a certain at-risk age group. However, individual factors (e.g. sex, age obesity, smoking, risk aversity) appear to significantly affect willingness to participate in the screening program. From a preventive perspective, our findings indicate the need for a more targeted approach trying to reach these groups.

scholarly journals Implementing genomic screening in diverse populations

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Noura S. Abul-Husn ◽  
Emily R. Soper ◽  
Giovanna T. Braganza ◽  
Jessica E. Rodriguez ◽  
Natasha Zeid ◽  
...  
Keyword(s):  
Screening Program ◽  
African Ancestry ◽  
Genomic Medicine ◽  
European Ancestry ◽  
Transthyretin Amyloidosis ◽  
Medicine Research ◽  
Screening Programs ◽  
Genomic Screening ◽  
Genomic Results ◽  
To Receive

Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

scholarly journals Mask R-CNN Based C. Elegans Detection with a DIY Microscope

Biosensors ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 257
Author(s):  
Sebastian Fudickar ◽  
Eike Jannik Nustede ◽  
Eike Dreyer ◽  
Julia Bornhorst
Keyword(s):  
Cell Biology ◽  
High Throughput Screening ◽  
Low Cost ◽  
Image Acquisition ◽  
Rapid Development ◽  
Model Organism ◽  
Large Data ◽  
Data Set ◽  
C Elegans ◽  
Do It Yourself

Caenorhabditis elegans (C. elegans) is an important model organism for studying molecular genetics, developmental biology, neuroscience, and cell biology. Advantages of the model organism include its rapid development and aging, easy cultivation, and genetic tractability. C. elegans has been proven to be a well-suited model to study toxicity with identified toxic compounds closely matching those observed in mammals. For phenotypic screening, especially the worm number and the locomotion are of central importance. Traditional methods such as human counting or analyzing high-resolution microscope images are time-consuming and rather low throughput. The article explores the feasibility of low-cost, low-resolution do-it-yourself microscopes for image acquisition and automated evaluation by deep learning methods to reduce cost and allow high-throughput screening strategies. An image acquisition system is proposed within these constraints and used to create a large data-set of whole Petri dishes containing C. elegans. By utilizing the object detection framework Mask R-CNN, the nematodes are located, classified, and their contours predicted. The system has a precision of 0.96 and a recall of 0.956, resulting in an F1-Score of 0.958. Considering only correctly located C. elegans with an [email protected] IoU, the system achieved an average precision of 0.902 and a corresponding F1 Score of 0.906.

Population-Based Screening in Children For Early Diagnosis and Treatment of Familial Hypercholesterolemia: Design of The VRONI Study

2021 ◽  
Author(s):  
Veronika Sanin ◽  
Raphael Schmieder ◽  
Sara Ates ◽  
Lea Dewi Schlieben ◽  
Jens Wiehler ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Screening Program ◽  
Molecular Genetic ◽  
Population Based ◽  
Molecular Genetic Analysis ◽  
Cascade Screening ◽  
Screening Programs ◽  
Pathogenic Variants ◽  
Risk Indices ◽  
Training Courses

Abstract Background: Heterozygous Familial Hypercholesterolemia (FH) represents the most frequent monogenic disorder with an estimated prevalence of 1:250 in the general population. Diagnosis during childhood enables early initiation of preventive measures, reducing the risk of severe consecutive atherosclerotic manifestations. Nevertheless, population-based screening programs for FH are scarce.Methods: In the VRONI study children aged 5 to 14 years in Bavaria are invited to participate in a FH screening program during regular pediatric visits. The screening is based on LDL-C measurements from capillary blood. If exceeding 130 mg/dl (3.34 mmol/l), i.e. the expected 95th percentile in this age group, subsequent molecular genetic analysis for FH is performed. Children with FH pathogenic variants enter a registry and are treated by specialized pediatricians. Furthermore, qualified training centers offer FH-focused training courses to affected families. For first degree relatives, reverse cascade screening is recommended to identify and treat affected family members.Results: Implementation of VRONI required intensive prearrangements for addressing ethical, educational, data-safety, legal and organisational aspects, which will be outlined in this paper. Recruitment started in January of 2021, within two months more than 280 pediatricians screened over 1,150 children. Approximately 60,000 children are expected to be enrolled in the VRONI study until 2024. Conclusion: VRONI aims to test the feasibility of a population-based screening for FH in children in Bavaria, intending to set the stage for a nation-wide FH screening infrastructure. Further we aim to validate genetic variants of unclear significance, detect novel causative mutations, and contribute to polygenic risk indices. (German Clinical Trials Register: DRKS00022140; registered August 21st2020.)

Techniques' Comparison and Report of the North Carolina Experience

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 843-848
Author(s):  
Thomas R. Kinney ◽  
Martha Sawtschenko ◽  
Mary Whorton ◽  
Jean Shearin ◽  
Christy Stine ◽  
...  
Keyword(s):  
North Carolina ◽  
Filter Paper ◽  
Screening Program ◽  
Medical Center ◽  
Sample Collection ◽  
Capillary Tubes ◽  
Blood Samples ◽  
Screening Programs ◽  
The North ◽  
Duke University

Controversy still exists as to the best laboratory method to use to screen newborns for sickle cell disease and other hemoglobinopathies. The proposed methods include hemoglobin electrophoresis, column chromatography, isoelectric focusing, and high performance liquid chromatography. There is also debate concerning the preferred method of sample collection. The proposed methods of sample collection include cord blood or blood obtained from the infant collected in a tube with anticoagulant or on filter paper. We compared hemoglobin electrophoresis patterns from infant blood samples collected in heparinized capillary tubes and on filter paper. This comparison was performed because hemoglobin electrophoresis of dried blood samples collected on filter paper has been advocated as a practical, reliable, and inexpensive method for mass screening programs, although the limitations of this technique have not been explored fully. We also summarize data from the North Carolina Newborn Hemoglobinopathy Screening Program, which relates to the advantages and limitations of hemoglobin electrophoresis from filter paper blood specimens. MATERIALS AND METHODS Specimens Four sets of specimens were used for this study: (1) specimens collected at Duke University Medical Center to compare hemoglobin electrophoresis patterns of hemolysates from filter paper and heparinized capillary tubes, (2) specimens collected by the North Carolina program for hemoglobinopathy screening, (3) specimens routinely collected at Duke University in heparinized capillary tubes for newborn hemoglobinopathy screening, and (4) samples for retesting to examine the error rate of the state program and to confirm screening results compatible with a hemoglobinopathy. Samples for Direct Comparison Between Filter Paper and Heparinized Specimens

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