scholarly journals A Population Dynamic Model to Assess the Diabetes Screening and Reporting Programs and Project the Burden of Undiagnosed Diabetes in Thailand

2019 ◽  
Vol 16 (12) ◽  
pp. 2207
Author(s):  
Mahikul ◽  
White ◽  
Poovorawan ◽  
Soonthornworasiri ◽  
Sukontamarn ◽  
...  
Keyword(s):  
Dynamic Model ◽  
Screening Program ◽  
Credible Interval ◽  
Undiagnosed Diabetes ◽  
P Value ◽  
Screening Programs ◽  
Population Dynamic Model ◽  
Reporting Systems ◽  
Aging Populations ◽  
Reporting Programs

Diabetes mellitus (DM) is rising worldwide, exacerbated by aging populations. We estimated and predicted the diabetes burden and mortality due to undiagnosed diabetes together with screening program efficacy and reporting completeness in Thailand, in the context of demographic changes. An age and sex structured dynamic model including demographic and diagnostic processes was constructed. The model was validated using a Bayesian Markov Chain Monte Carlo (MCMC) approach. The prevalence of DM was predicted to increase from 6.5% (95% credible interval: 6.3–6.7%) in 2015 to 10.69% (10.4–11.0%) in 2035, with the largest increase (72%) among 60 years or older. Out of the total DM cases in 2015, the percentage of undiagnosed DM cases was 18.2% (17.4–18.9%), with males higher than females (p-value < 0.01). The highest group with undiagnosed DM was those aged less than 39 years old, 74.2% (73.7–74.7%). The mortality of undiagnosed DM was ten-fold greater than the mortality of those with diagnosed DM. The estimated coverage of diabetes positive screening programs was ten-fold greater for elderly compared to young. The positive screening rate among females was estimated to be significantly higher than those in males. Of the diagnoses, 87.4% (87.0–87.8%) were reported. Targeting screening programs and good reporting systems will be essential to reduce the burden of disease.

scholarly journals The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Ashraf El-Metwally ◽  
Lujane Yousef Al-Ahaidib ◽  
Alaa Ayman Sunqurah ◽  
Khaled Al-Surimi ◽  
Mowafa Househ ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Screening Method ◽  
Arab Countries ◽  
Screening Programs ◽  
Societal Burden ◽  
Disability Adjusted Life ◽  
Reporting Systems ◽  
Computer Based ◽  
Disability Adjusted Life Year

Background/Objectives. This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods. A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results. The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. Conclusion. The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

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.

A Population Dynamic Model for Facultative Agamosperms

2002 ◽  
Vol 215 (2) ◽  
pp. 253-262 ◽  
Author(s):  
YUU NAKAYAMA ◽  
HIROMI SENO ◽  
HIROYUKI MATSUDA
Keyword(s):  
Dynamic Model ◽  
Population Dynamic ◽  
Population Dynamic Model

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.

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.)

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