scholarly journals Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson’s disease

2019 ◽  
Author(s):  
Nelson Leung-sang Tang ◽  
Joannie Hui ◽  
Dan Huang ◽  
Man Fung Tang ◽  
Xingyan Wang ◽  
...  
Keyword(s):  
Preschool Children ◽  
Test Performance ◽  
Potential Application ◽  
Copper Concentration ◽  
Time Window ◽  
Screening Program ◽  
Control Sample ◽  
Copper Excretion ◽  
Spot Urine ◽  
Presymptomatic Stage

ABSTRACTBackgroundWith spot urine collected from a large control sample of preschool children (aged 3-7 years), reference range of spot urine copper excretion indexes and their biological variation were defined.MethodsIn order to investigate their test performance in screening of Wilson disease in this age group, multiple spot urine samples from 6 WD patients diagnosed at presymptomatic stage were analysed. Cut-off values for spot urine copper concentration, copper to creatinine ratio and copper to osmolality ratio at 0.5 µmol/L, 0.1 µmol/mmol and 0.00085 µmol/mOsmol (32 µg/L, 56 µg/g creatinine and 0.054 µg/mOsmol, respectively, in conventional units) have potential application in differentiation of WD patients.ResultsThe data provides a new insight that the inter-individual variation of spot urine copper indexes (CVg) were moderate with figures around 60% which was similar to other clinically useful urine tests, such as urine albumin excretion ratio. Spot urine copper excretion strongly correlated with both urine creatinine and osmolality. And more than 95% of data points in health preschool children fell within prediction regions by linear regression suggesting a good utility of normalisation by these 2 analytes. Receiver operator curve (ROC) showed that copper to osmolality ratio was the best index with an area under curve (AUC) greater than 0.98.ConclusionsBased on the data, a new WD screening time window targeting preschool children is proposed. Application of a bivariate screening strategy using spot urine copper concentration and urine osmolality may be useful in a population screening program for preschool children.

scholarly journals Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson disease

Pathology ◽  
2020 ◽  
Vol 52 (4) ◽  
pp. 439-446
Author(s):  
Nelson Leung-sang Tang ◽  
Joannie Hui ◽  
Dan Huang ◽  
Man Fung Tang ◽  
Xingyan Wang ◽  
...  
Keyword(s):  
Preschool Children ◽  
Wilson Disease ◽  
Potential Application ◽  
Reference Intervals ◽  
Copper Excretion ◽  
Spot Urine

scholarly journals Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

2020 ◽  
Vol 29 (16) ◽  
pp. 2674-2683 ◽  
Author(s):  
Anna A L Motyl ◽  
Kiterie M E Faller ◽  
Ewout J N Groen ◽  
Rachel A Kline ◽  
Samantha L Eaton ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Time Window ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Micro Computed Tomography ◽  
Developmental Abnormalities ◽  
Presymptomatic Stage ◽  
Cardiac Ventricles ◽  
Molecular Phenotypes ◽  
Preclinical And Clinical Studies

Abstract Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of whether SMA has presymptomatic, developmental components to disease pathogenesis. We have addressed this by combining micro-computed tomography (μCT) and comparative proteomics to examine systemic pre-symptomatic changes in a prenatal mouse model of SMA. Quantitative μCT analyses revealed that SMA embryos were significantly smaller than littermate controls, indicative of general developmental delay. More specifically, cardiac ventricles were smaller in SMA hearts, whilst liver and brain remained unaffected. In order to explore the molecular consequences of SMN depletion during development, we generated comprehensive, high-resolution, proteomic profiles of neuronal and non-neuronal organs in SMA mouse embryos. Significant molecular perturbations were observed in all organs examined, highlighting tissue-specific prenatal molecular phenotypes in SMA. Together, our data demonstrate considerable systemic changes at an early, presymptomatic stage in SMA mice, revealing a significant developmental component to SMA pathogenesis.

scholarly journals Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Marco L. Leung ◽  
Deborah J. Watson ◽  
Courtney N. Vaccaro ◽  
Fernanda Mafra ◽  
Adam Wenocur ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Screening Program ◽  
Sequence Data ◽  
Genetic Diseases ◽  
Control Sample ◽  
Gc Content ◽  
Carrier Status ◽  
Sequencing Data ◽  
High Coverage ◽  
Detection Rates

AbstractCystic fibrosis (CF) is one of the most common genetic diseases worldwide with high carrier frequencies across different ethnicities. Next generation sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has proven to be an effective screening tool to determine carrier status with high detection rates. Here, we evaluate the performance of the Swift Biosciences Accel-Amplicon CFTR Capture Panel using CFTR-positive DNA samples. This assay is a one-day protocol that allows for one-tube reaction of 87 amplicons that span all coding regions, 5′ and 3′UTR, as well as four intronic regions. In this study, we provide the FASTQ, BAM, and VCF files on seven unique CFTR-positive samples and one normal control sample (14 samples processed including repeated samples). This method generated sequencing data with high coverage and near 100% on-target reads. We found that coverage depth was correlated with the GC content of each exon. This dataset is instrumental for clinical laboratories that are evaluating this technology as part of their carrier screening program.

Validity of a Non-Projective Anxiety Scale for Preschool Children

1977 ◽  
Vol 41 (1) ◽  
pp. 212-214
Author(s):  
Niki Hollembeak ◽  
E. Peter Johnsen ◽  
D. B. Tracy
Keyword(s):  
Preschool Children ◽  
Test Performance ◽  
Correlation Coefficients ◽  
Anxiety Scale ◽  
Situational Factors ◽  
Maternal Anxiety ◽  
Teaching Staff ◽  
State Trait Anxiety Inventory ◽  
Scale Scores ◽  
Preschool Boys

This study attempted to validate the Anxiety Scale, an individual test of anxiety for preschool children, by relating test performance to adults' ratings and maternal anxiety. 45 preschool boys and girls were administered the Anxiety Scale while ratings of anxiety were collected by the teaching staff; maternal anxiety was assessed by administering the A-Trait section of the State-Trait Anxiety Inventory. Correlation coefficients between Anxiety Scale scores, ratings of anxiety, and A-Trait scores were nonsignificant. Findings were discussed in terms of situational factors and parent-child roles.

scholarly journals Prevalence and characteristics of hearing and vision loss in preschool children from low income South African communities: results of a screening program of 10,390 children

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Susan Eksteen ◽  
Robert H. Eikelboom ◽  
Hannah Kuper ◽  
Stefan Launer ◽  
De Wet Swanepoel
Keyword(s):  
Hearing Loss ◽  
Preschool Children ◽  
South African ◽  
Vision Loss ◽  
Screening Program ◽  
Vision Screening ◽  
Community Based ◽  
Sensory Impairments ◽  
African Community

Abstract Background The majority of children with sensory impairments live in low- and middle-income countries. More studies of hearing and vision impairment prevalence are needed, in order to generate more accurate estimates of trends in sensory impairments. This study aimed to estimate the prevalence and describe the characteristics of hearing and vision loss among preschool children (4–7 years) in an underserved South African community following community-based mobile health (mHealth) supported hearing and vision services. Methods A screening program of sensory impairments was undertaken of children attending preschools in the communities of Khayelitsha and Mitchell’s Plain, Cape Town, from September 2017 until June 2019. Hearing and vision screening were done by trained community health workers using mHealth technology. Children who failed hearing and vision screening were seen for follow-up assessments at their preschools. Follow-up assessments were conducted using smartphones that host point-of-care validated and calibrated hearing and vision testing applications (hearTest app, hearX Group, South Africa and PeekAcuity app, Peek Vision, United Kingdom). Descriptive statistical analysis and logistic regression analysis were conducted after extracting data from a secure cloud-based server (mHealth Studio, hearX Group) to Microsoft Excel (2016). Results A total of 10,390 children were screened at 298 preschools over 22 months. Of the children screened, 5.6 and 4.4% of children failed hearing and vision screening respectively. Community-based follow-up hearing tests were done at the preschools on 88.5% (514) of children of whom 240 children (54.2% female) presented with hearing loss. A preschool-based follow-up vision test was done on 400 children (88.1%). A total of 232 children (46.1% female) had a vision impairment, and a further 32 children passed the test but had obvious signs of ocular morbidity. Logistic regression analysis found that age was a significant predictor of vision loss (p < 0.05), but not for hearing loss (p = 0.06). Gender was not a significant predictor of hearing (p = 0.22) or vision loss (p = 0.20). Conclusions Hearing loss is prevalent in at least 22 per 1000 and vision loss in at least 23 per 1000 preschool children in an underserved South African community. Timely identification of sensory losses can be facilitated through community-based hearing and vision services supported by mHealth technology.

scholarly journals Detection of norovirus infections in Denmark, 2011–2018

2020 ◽  
Vol 148 ◽  
Author(s):  
M. R. Korcinska ◽  
K. Dalsgaard Bjerre ◽  
L. Dam Rasmussen ◽  
E. Tvenstrup Jensen ◽  
T. K. Fischer ◽  
...  
Keyword(s):  
Test Performance ◽  
Time Window ◽  
Laboratory Data ◽  
Polymerase Chain Reaction Analysis ◽  
Diagnostic Methods ◽  
Patient Identification ◽  
Health Measures ◽  
Geographical Regions ◽  
Gradual Introduction ◽  
Polymerase Chain

Abstract Norovirus (NoV) infections occur very frequently yet are rarely diagnosed. In Denmark, NoV infections are not under surveillance. We aimed to collect and describe existing laboratory-based NoV data. National NoV laboratory data were collected for 2011–2018, including information on patient identification number, age and sex, requesting physician, analysis date and result. We defined positive patient-episodes by using a 30-day time window and performed descriptive and time series analysis. Diagnostic methods used were assessed through a survey. We identified 15 809 patient-episodes (11%) out of 142 648 tested patients with an increasing trend, 9366 in 2011 vs. 32 260 in 2018. This corresponded with a gradual introduction of polymerase chain reaction analysis in laboratories. The highest positivity rate was in patients aged <5 years (15%) or >85 years (17%). There was a large difference in test performance over five Danish geographical regions and a marked seasonal variation with peaks from December to February. This is the first analysis of national NoV laboratory data in Denmark. A future laboratory-based surveillance system may benefit public health measures by describing trend, burden and severity of seasons and possibly pinpoint hospital outbreaks.

APPLICATION OF THE LASER INDUCED BREAKDOWN SPECTROSCOPY TECHNIQUE TO THE DETECTION OF Cl IN CHARD TO INFER THE PRESENCE OF PESTICIDES

Anales AFA ◽  
2021 ◽  
Vol 31 (4) ◽  
pp. 135-138
Author(s):  
L.J. Martino ◽  
◽  
C. A. D’Angelo ◽  
Keyword(s):  
Pesticide Residues ◽  
Potential Application ◽  
Control Sample ◽  
Laser Induced Breakdown Spectroscopy ◽  
Spectroscopy Technique ◽  
Breakdown Spectroscopy ◽  
Rapid Measurement ◽  
Laser Induced Breakdown ◽  
Food Matrices ◽  
Potential Tool

Pesticide residues in food are a threat to consumption. However, detecting residues quickly and directly on the sample is a complex job. In this work, the potential application of the Laser Induced Breakdown Spectroscopy (LIBS) technique for the rapid measurement of pesticide residues (imidacloprid, cypermethrin and chlorpyrifos) in chard leaves is explored by registering the chlorine emission line (725.66 nm). Significant differences can be observed with respect to the control sample, evidencing the applicability of this technique as a potential tool for the study of pesticide residues in food matrices.

Sensitivity of a Nitrite Indicator Strip Method in Detecting Bacteriuria in Preschool Girls

PEDIATRICS ◽  
1977 ◽  
Vol 60 (2) ◽  
pp. 244-245 ◽  
Author(s):  
Calvin M. Kunin ◽  
Jane E. DeGroot
Keyword(s):  
Preschool Children ◽  
Convenient Method ◽  
Screening Program ◽  
Adult Women ◽  
Special Equipment ◽  
Strip Method ◽  
Ames Laboratory ◽  
Strip Test ◽  
Urine Specimens

The nitrite indicator strip is an inexpensive and convenient method for detecting bacteriuria. Because it can be performed in the home by a parent without special equipment, it has proven to be particularly convenient for testing preschool children.1 A previous study2 showed that the nitrite indicator strip test performed on three consecutive first-morning voided urine specimens detected 85% of culture-confirmed bacteriuric adult women. This report indicates that the nitrite dipstrip test has a similar sensitivity in detecting bacteriuria in preschool girls. MATERIALS AND METHODS Twenty-one of the 26 bacteriuric girls detected in the previously reported screening program were tested at three-month intervals for periods of three months to two years, using nitrite indicator strips (Microstix-Nitrite, Ames Laboratory, Elkhart, Indiana), and urine cultures were preformed, using dip-slides (Uricult, Orion Laboratories, Helsinki).

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