Newborn screening: Need of the hour

2021 ◽  
Vol 36 ◽  
pp. 35-41
Author(s):  
Anil B. Jalan ◽  
Ketki V. Kudalkar
Keyword(s):  
Newborn Screening ◽  
Urban Areas ◽  
Genetic Disorders ◽  
Cost Effective ◽  
Severe Illness ◽  
Behavioral Abnormalities ◽  
Scholastic Backwardness ◽  
High Prevalence ◽  
High Incidence ◽  
Heart Abnormalities

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.

Cost-Effectiveness of Nasopharyngeal Carcinoma Screening with Epstein-Barr Virus Polymerase Chain Reaction or Serology in High-Incidence Populations Worldwide

2020 ◽  
Author(s):  
Jacob A Miller ◽  
Quynh-Thu Le ◽  
Benjamin A Pinsky ◽  
Hannah Wang
Keyword(s):  
Cost Effectiveness ◽  
Epstein Barr Virus ◽  
Cost Effective ◽  
Chain Reaction ◽  
Men And Women ◽  
Barr Virus ◽  
Screening Strategies ◽  
High Incidence ◽  
Polymerase Chain ◽  
Epstein Barr

Abstract Background The incidence of endemic Epstein-Barr Virus (EBV)-associated nasopharyngeal carcinoma (NPC) varies considerably worldwide. In high-incidence regions, screening trials have been conducted. We estimated the mortality reduction and cost-effectiveness of EBV-based NPC screening in populations worldwide. Methods We identified 380 populations in 132 countries with incident NPC and developed a decision-analytic model to compare ten unique onetime screening strategies to no screening for men and women at age 50 years. Screening performance and the stage distribution of undiagnosed NPC were derived from a systematic review of prospective screening trials. Results Screening was cost-effective in up to 14.5% of populations, depending on the screening strategy. These populations were limited to East Asia, Southeast Asia, North Africa, or were Asian, Pacific Islander, or Inuit populations in North America. A combination of serology and nasopharyngeal polymerase chain reaction (PCR) was most cost-effective, but other combinations of serologic and/or plasma PCR screening were also cost-effective. The estimated reduction in NPC mortality was similar across screening strategies. For a hypothetical cohort of patients in China, 10-year survival improved from 71.0% (95%CI = 68.8%–73.0%) without screening to a median of 86.3% (range = 83.5%–88.2%) with screening. This corresponded to a median 10-year reduction in NPC mortality of 52.9% (range= 43.1%–59.3%). Screening interval impacted absolute mortality reduction and cost-effectiveness. Conclusions We observed decreased NPC mortality with EBV-based screening. Screening was cost-effective in many high-incidence populations and could be extended to men and women as early as age 40 years in select regions. These findings may be useful when choosing among local public health initiatives.

scholarly journals The Efficiency of Large Hole Boring (MSP) Method in the Reduction of Blast-Induced Vibration

2021 ◽  
Vol 11 (4) ◽  
pp. 1814
Author(s):  
Min Seong Kim ◽  
Sean Seungwon Lee
Keyword(s):  
Urban Areas ◽  
Cost Effective ◽  
Base Case ◽  
Large Hole ◽  
Promising Alternative ◽  
Geological Information ◽  
Drill And Blast ◽  
Smooth Blasting ◽  
Alternative Designs ◽  
Blasting Method

Drill and blast is the most cost-effective excavation method for underground construction, however, vibration and noise, induced by blasting, have been consistently reported as problems. Cut blasting has been widely employed to reduce the blast-induced problems during underground excavation. We propose that the large hole boring method using the state-of-the-art MSP (Multi-setting smart-investigation of the ground and pre-large hole boring) machine (“MSP method”) can efficiently improve vibration reduction. The MSP machine will be used to create 382 mm diameter empty holes at the tunnel cut area for this purpose. This study assessed the efficiency of the MSP method in reducing blast-induced vibration in five blasting patterns using a cylinder-cut, which is a traditional cut blasting method. The controlled blasting patterns using the MSP method demonstrated up to 72% reduction in blast-induced vibration, compared to the base case, Pattern B, where only cylinder-cut and smooth blasting method were applied. Therefore, the MSP method proves to be a promising alternative for blasting in sensitive urban areas where non-vibration excavation techniques were initially considered. Geological characteristics of 50 m beyond the excavation face can be acquired through the proposed real-time boring data monitoring system together with a borehole alignment tracking and ground exploration system. The obtained geological information will be a great help in preparing alternative designs, and scheduling of construction equipment and labour during the tunnel construction.

scholarly journals The Importance of Early Detection of Genetic Diseases

2021 ◽  
Vol 4 (2) ◽  
pp. 133-141
Author(s):  
Suma Elcy Varghese ◽  
Rana Hassan Mohammad El Otol ◽  
Fatma Sultan Al Olama ◽  
Salah Ahmad Mohamed Elbadawi
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Health Authority ◽  
Genetic Screening ◽  
Screening Program ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Inborn Errors ◽  
The Usa ◽  
Premarital Screening

<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. <b><i>Methods:</i></b> During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. <b><i>Results:</i></b> The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. <b><i>Conclusions:</i></b> There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

Selecting Sanitation Solutions for Peri-urban Areas: A Case Study of Can Tho, Vietnam

2010 ◽  
Vol 5 (4) ◽  
Author(s):  
Naomi Carrard ◽  
Juliet Willetts ◽  
Cynthia Mitchell ◽  
Mick Paddon ◽  
Monique Retamal
Keyword(s):  
Urban Areas ◽  
Cost Effective ◽  
Asset Replacement ◽  
Fit For Purpose ◽  
Infrastructure Investments ◽  
Sanitation Systems ◽  
Can Tho City ◽  
Sustainable Futures ◽  
Sanitation Infrastructure ◽  
Selection Of

In peri-urban areas where infrastructure investments have not yet been made, there is a need to determine the most context-appropriate, fit for purpose and sustainable sanitation solutions. Decision makers must identify the optimal system scale (on the spectrum from centralized to community to cluster scale) and assess the long-term costs and socio-economic/environmental impacts associated with different options. Addressing both cost-effectiveness and sustainability are essential to ensure that institutions and communities are able to continue to bear the costs and management burden of infrastructure operation, maintenance and asset replacement. This paper describes an approach to sanitation planning currently being undertaken as a research study in Can Tho City in southern Vietnam, by the Institute for Sustainable Futures and Can Tho University in collaboration with Can Tho Water Supply and Sewerage Company. The aim of the study is to facilitate selection of the most context-appropriate, fit for purpose, cost effective and sustainable sanitation infrastructure solution. As such, the study compares a range of sanitation alternatives including centralized, decentralized (at household or cluster scale) and resource recovery options. This paper provides an overview of the study and considers aspects of the Can Tho and Vietnamese regulatory, development and institutional context that present drivers and challenges for comparison of options and selection of fit for purpose sanitation systems.

HIV epidemic in central african republic: High prevalence rates in both rural and urban areas

2004 ◽  
Vol 72 (3) ◽  
pp. 358-362 ◽  
Author(s):  
Marcelle Diane Matsika-Claquin ◽  
Marcel Massanga ◽  
Didier Ménard ◽  
Jean Mazi-Nzapako ◽  
Jean-Pierre Ténegbia ◽  
...  
Keyword(s):  
Urban Areas ◽  
Central African Republic ◽  
Prevalence Rates ◽  
Rural And Urban Areas ◽  
Hiv Epidemic ◽  
Rural And Urban ◽  
High Prevalence

Molecular epidemiology of norovirus from patients with acute gastroenteritis in northwestern Spain

2014 ◽  
Vol 143 (2) ◽  
pp. 316-324 ◽  
Author(s):  
C. F. MANSO ◽  
J. L. ROMALDE
Keyword(s):  
Phylogenetic Analysis ◽  
Molecular Epidemiology ◽  
Genetic Drift ◽  
Acute Gastroenteritis ◽  
Age Groups ◽  
Capsid Gene ◽  
High Prevalence ◽  
High Incidence ◽  
Northwestern Spain

SUMMARYThe high incidence of norovirus (NoV) infections seems to be related to the emergence of new variants that evolved by genetic drift of the capsid gene. In this work, that represents a first effort to describe the molecular epidemiology of NoV in the northwest of Spain, a total of eight different NoV genotypes (GII.1, GII.3, GII.4, GII.6, GII.7, GII.12, GII.13, GII.14) were detected. The major genotypes observed were GII.4 (45·42%) and GII.14 (34·9%), being detected in all age groups. In addition, and although most of GII.4 sequences belonged to 2006b (7·2%) and 2010 (50·35%) variants, the presence of new NoV variants was observed. Phylogenetic analysis revealed that a high number of GII.4 sequences (35·24%) could be assigned to the newly emerging Sydney 2012 variant, even during late 2010. The high prevalence of NoV GII.14 observed in this study may indicate the emergence of this genotype in Spain.

Infantile Spasms Due to Unilateral Cerebral Infarcts

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1024-1026
Author(s):  
LUIS A. ALVAREZ ◽  
SHLOMO SHINNAR ◽  
SOLOMON L. MOSHÉ
Keyword(s):  
Mental Retardation ◽  
Genetic Disorders ◽  
Infantile Spasms ◽  
Seizure Disorder ◽  
Neurologic Examination ◽  
Cerebral Infarcts ◽  
Symptomatic Group ◽  
High Incidence ◽  
Underlying Disorder ◽  
Group 1

Infantile spasms are an age-specific seizure disorder that occur in infants with no known underlying disorder or prior neurologic insult (cryptogenic group) as well as in infants with a variety of genetic disorders or known prior neurologic insult (symptomatic group).1-8 The presence of infantile spasms is associated with a high incidence of developmental retardation (87%)3 even in previously normal infants.3,5-7 Although there are many contradictory studies, it is generally believed that the infants in the symptomatic group, especially those with abnormal findings on neurologic examination prior to the onset of the seizures, have a significantly higher incidence of mental retardation and epilepsy than the infants in the cryptogenic group.1-9

scholarly journals Estimation of Building Heights and DEM Accuracy Assessment Using ICESat-2 Data Products

2021 ◽  
Vol 10 (1) ◽  
pp. 37
Author(s):  
Goddu Pavan Sai Goud ◽  
Ashutosh Bhardwaj
Keyword(s):  
Spatial Data ◽  
Rural Areas ◽  
Urban Areas ◽  
Accuracy Assessment ◽  
Urban Expansion ◽  
Population Expansion ◽  
Cost Effective ◽  
Absolute Error ◽  
Google Earth ◽  
Surface Geometry

The use of remote sensing for urban monitoring is a very reliable and cost-effective method for studying urban expansion in horizontal and vertical dimensions. The advantage of multi-temporal spatial data and high data accuracy is useful in mapping urban vertical aspects like the compactness of urban areas, population expansion, and urban surface geometry. This study makes use of the ‘Ice, cloud, and land elevation satellite-2′ (ICESat-2) ATL 03 photon data for building height estimation using a sample of 30 buildings in three experimental sites. A comparison of computed heights with the heights of the respective buildings from google image and google earth pro was done to assess the accuracy and the result of 2.04 m RMSE was obtained. Another popularly used method by planners and policymakers to map the vertical dimension of urban terrain is the Digital Elevation Model (DEM). An assessment of the openly available DEM products—TanDEM-X and Cartosat-1 has been done over Urban and Rural areas. TanDEM-X is a German earth observation satellite that uses InSAR (Synthetic Aperture Radar Interferometry) technique to acquire DEM while Cartosat-1 is an optical stereo acquisition satellite launched by the Indian Space Research Organization (ISRO) that uses photogrammetric techniques for DEM acquisition. Both the DEMs have been compared with ICESat-2 (ATL-08) Elevation data as the reference and the accuracy has been evaluated using Mean error (ME), Mean absolute error (MAE) and Root mean square error (RMSE). In the case of Greater Hyderabad Municipal Corporation (GHMC), RMSE values 5.29 m and 7.48 m were noted for TanDEM-X 90 and CartoDEM V3 R1 respectively. While the second site of Bellampalli Mandal rural area observed 5.15 and 5.48 RMSE values for the same respectively. Therefore, it was concluded that TanDEM-X has better accuracy as compared to the CartoDEM V3 R1.

scholarly journals Characterizing the mechanism behind the progression of NAFLD to hepatocellular carcinoma

2020 ◽  
pp. HEP36
Author(s):  
Pierre Nahon ◽  
Manon Allaire ◽  
Jean-Charles Nault ◽  
Valérie Paradis
Keyword(s):  
Hepatocellular Carcinoma ◽  
Fatty Liver Disease ◽  
Association Studies ◽  
Cost Effective ◽  
Genome Wide Association Studies ◽  
Alcoholic Fatty Liver ◽  
Genome Wide ◽  
High Prevalence ◽  
Prevalence Of Obesity ◽  
Alcoholic Fatty Liver Disease

Hepatocellular carcinoma (HCC) developed in non-alcoholic fatty liver disease (NAFLD) individuals presents substantial clinical and biological characteristics, which remain to be elucidated. Its occurrence in noncirrhotic patients raises issues regarding surveillance strategies, which cannot be considered as cost-effective given the high prevalence of obesity and metabolic syndrome, and furthermore delineates specific oncogenic process that could be targeted in the setting of primary or secondary prevention. In this context, the identification of a genetic heterogeneity modulating HCC risk as well as specific biological pathways have been made possible through genome-wide association studies, development of animal models and in-depth analyses of human samples at the pathological and genomic levels. These advances must be confirmed and pursued to pave the way for personalized management of NAFLD-related HCC.

scholarly journals Leveraging machine learning to produce a cost-effective national building height map of Ireland

2021 ◽  
Author(s):  
Eoghan Keany ◽  
Geoffrey Bessardon ◽  
Emily Gleeson
Keyword(s):  
Machine Learning ◽  
Remote Sensing ◽  
High Resolution ◽  
Land Cover ◽  
Urban Areas ◽  
Cost Effective ◽  
Land Cover Classification ◽  
National Scale ◽  
Building Height ◽  
Height Data

&lt;p&gt;To represent surface thermal, turbulent and humidity exchanges, Numerical Weather Prediction (NWP) systems require a land-cover classification map to calculate sur-face parameters used in surface flux estimation. The latest land-cover classification map used in the HARMONIE-AROME configuration of the shared ALADIN-HIRLAMNWP system for operational weather forecasting is ECOCLIMAP-SG (ECO-SG). The first evaluation of ECO-SG over Ireland suggested that sparse urban areas are underestimated and instead appear as vegetation areas (1). While the work of (2) on land-cover classification helps to correct the horizontal extent of urban areas, the method does not provide information on the vertical characteristics of urban areas. ECO-SG urban classification implicitly includes building heights (3), and any improvement to ECO-SG urban area extent requires a complementary building height dataset.&lt;/p&gt;&lt;p&gt;Openly accessible building height data at a national scale does not exist for the island of Ireland. This work seeks to address this gap in availability by extrapolating the preexisting localised building height data across the entire island. The study utilises information from both the temporal and spatial dimensions by creating band-wise temporal aggregation statistics from morphological operations, for both the Sentinel-1A/B and Sentinel-2A/B constellations (4). The extrapolation uses building height information from the Copernicus Urban Atlas, which contains regional coverage for Dublin at 10 m x10 m resolution (5). Various regression models were then trained on these aggregated statistics to make pixel-wise building height estimates. These model estimates were then evaluated with an adjusted RMSE metric, with the most accurate model chosen to map the entire country. This method relies solely on freely available satellite imagery and open-source software, providing a cost-effective mapping service at a national scale that can be updated more frequently, unlike expensive once-off private mapping services. Furthermore, this process could be applied by these services to reduce costs by taking a small representative sample and extrapolating the rest of the area. This method can be applied beyond national borders providing a uniform map that does not depends on the different private service practices facilitating the updates of global or continental land-cover information used in NWP.&lt;/p&gt;&lt;p&gt;&amp;#160;&lt;/p&gt;&lt;p&gt;(1) G. Bessardon and E. Gleeson, &amp;#8220;Using the best available physiography to improve weather forecasts for Ireland,&amp;#8221; in Challenges in High-Resolution Short Range NWP at European level including forecaster-developer cooperation, European Meteorological Society, 2019.&lt;/p&gt;&lt;p&gt;(2) E. Walsh, et al., &amp;#8220;Using machine learning to produce a very high-resolution land-cover map for Ireland, &amp;#8221; Advances in Science and Research,&amp;#160; (accepted for publication).&lt;/p&gt;&lt;p&gt;(3) CNRM, &quot;Wiki - ECOCLIMAP-SG&quot; https://opensource.umr-cnrm.fr/projects/ecoclimap-sg/wiki&lt;/p&gt;&lt;p&gt;(4) D. Frantz, et al., &amp;#8220;National-scale mapping of building height using sentinel-1 and sentinel-2 time series,&amp;#8221; Remote Sensing of Environment, vol. 252, 2021.&lt;/p&gt;&lt;p&gt;(5) M. Fitrzyk, et al., &amp;#8220;Esa Copernicus sentinel-1 exploitation activities,&amp;#8221; in IGARSS 2019-2019 IEEE International Geoscience and Remote Sensing Symposium, IEEE, 2019.&lt;/p&gt;

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