Confirmatory Test Results Research Articles

Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis\u2014implications for process quality and patient care

Newborn screening for cystic fibrosis (CF-NBS) was introduced in Germany in 2016. Currently, systematic follow-up of positive CF-NBS results is not implemented or reimbursed in the NBS program. We investigated results of confirmatory testing over 24 months after implementation of CF-NBS for a large German NBS center before and after introduction of an active tracking system and performed a cost calculation for tracking. Results are compared with the federal state of Bavaria, where a centralized tracking system has been in place for many years. At the NBS center, 244 of 281,907 children had a positive CF-NBS result requiring diagnostic confirmation. Before implementation of a telephone tracking system, only 43% of confirmatory results were returned despite repeated written requests. The consecutive strategy including telephone tracking led to an increase of resolved cases to 84%. However, the centralized tracking system in Bavaria, assigning children with positive CF-NBS directly to a responsible CF-center, resolved 99% of cases. The calculated additional cost for a tracking system in Germany including telephone tracking is 1.20€ per newborn screened.Conclusion: The implementation of a tracking system achieves a distinct improvement in CF-NBS with justifiable costs. The effect can be limited by absence of centralized organization of confirmatory testing.What is Known:• Newborn screening for cystic fibrosis (CF-NBS) has been performed for many years in several countries worldwide• While many studies have focused on different CF-NBS strategies, the organization of confirmatory testing and process quality concerning returned information to the NBS center has so far received less attention.What is New:• The implementation of an active tracking system achieves a distinct improvement of clarified cases after positive CF-NBS with justifiable costs.• The effect of a tracking system can be limited by the absence of a centralized organization of confirmatory testing.

Development of Taguchi based Grey Relational Analysis Optimization for FSW of AZ31B Magnesium Alloy

In this paper, grey relational analysis combined with Taguchi method has been used to evaluate the weld ability of AZ31B magnesium alloy by FSW process. The L9 Taguchi design considering an orthogonal array consists of 3 factors and 3 levels was used for experimentation. The rotational speed of tool, transverse speed and angle of tilt of the tool are selected as welding parameters. The welding parameters influence on responses namely Ultimate Tensile Strength (UTS) and hardness has been analyzed using ANOVA. The analysis results showed transverse speed as the predominant welding parameter affecting tensile strength, hardness, and weld quality. Confirmation test results showed that grey relational analysis along with Taguchi method yielded better results in the optimization of welding parameters in FSW of AZ31B magnesium alloy.

Evaluation and applicability of Alere iCup DX 14 for rapid postmortem urine drug screening at autopsy

Performing point-of-care urine drug screen testing at autopsy by a forensic pathologist may provide an early indication of the presence of analytes of interest during autopsy. An evaluation for the screening of 14 classes of common drugs of abuse in postmortem urine by the point-of-care screening device, Alere iCup DX 14, is presented. One hundred ninety postmortem urine samples were screened with the iCup occurring at autopsy by the forensic pathologist. Positive and negative results obtained from the screening kit were evaluated against confirmatory test results obtained using routine forensic toxicology analyses that employed LC-MS/MS and GC-MS to detect a combination of over 85 common drugs of abuse and medications. Sensitivity for each respective iCup drug class ranged from 66% (buprenorphine) to 100% (methadone, tricyclic antidepressants). Specificity for each respective iCup drug class ranged from 89% (benzodiazepines) to 100% (amphetamines, barbiturates, buprenorphine, 3,4-methylenedioxymethamphetamine, methadone). Positive predictive values ranged from 44% (benzodiazepines) to 100% (amphetamines, barbiturates, buprenorphine, methylenedioxymethamphetamine, methadone), while negative predictive values ranged from 96% (methamphetamine) to 100% (barbiturates, methadone, tricyclic antidepressants). A high false-positive rate was yielded by the benzodiazepine class. The lack of fentanyl screening in the point-of-care device is a significant limitation considering its prolific prevalence in forensic casework. The results obtained in the study should be acknowledged when considering the use of the Alere iCup DX 14 in the context of postmortem casework to help indicate potential drug use contemporaneously with autopsy and when requiring such preliminary results prior to the release of a final forensic toxicology report.

DEPELOVMENT OF A COMPANION ANDRAGOGICAL COMPETENCY ASSESSMENT INSTRUMENT

This study aims to develop an andragogical competency assessment instrument. The research method used is a development method that produces a product in the form of a companion andragogical competency assessment instrument. The development of the instrument through some stages, namely the first phase of the instruments,the second phase of judgment instrument by experts, the third phase testing instruments and the fourth analysis item. A sample of respondents taken by using purposive sampling as many as 200 assisted residents in DKI Jakarta. Data Analysis research using the descriptive confirmatory statistical descriptive analysis of factors to find the validity and the formation of factor characteristics and reliability is determined by Alpha Cronbach more than 0,70. The assessment instrument has been declared valid and reliable. The first stage of this development is to compile an instrument based on theoretical studies and obtain 5 dimensions of standard andragogical competence on the principles and 5 dimensions of the mentoring process. The second stage was carried out by the expert justment of the instrument by providing an assessment and revising the grid and instrument items. The content validity was tested by experts and a good aiken statistical index. The third stage is testing in the field and the fourth stage is conducting factor analysis with the results of the value of the construct validity carried out by exploratory and confirmatory factor analysis where the Confirmatory Factor Analysis test results show 34 valid and reliable items.

Recruitment Strategy for Potential COVID-19 Convalescent Plasma Donors

Recruitment Strategy for Potential COVID-19 Convalescent Plasma Donors

Impact of Early Confirmatory Tests on Upgrading and Conversion to Treatment in Prostate Cancer Patients on Active Surveillance

To assess the impact of confirmatory tests on active surveillance (AS) biopsy disease reclassification and progression to treatment in men with favorable risk prostate cancer (FRPC). We searched the MUSIC registry for men with FRPC managed with AS without or with a confirmatory test. Confirmatory tests included (1) repeat prostate biopsy, (2) genomic tests, (3) prostate magnetic resonance imaging (MRI), or (4) MRI followed by a post-MRI biopsy. Confirmatory test results were deemed reassuring (RA) or nonreassuring (nonRA) according to predefined criteria. Kaplan-Meier curves and multivariable Cox regression models were used to compare surveillance biopsy disease reclassification-free survival and treatment-free survival. Of the 2,514 men with FRPC who were managed on AS, 1211 (48%) men obtained a confirmatory test. We noted differences in the 12-month unadjusted surveillance biopsy disease reclassification-free probability (68%, 83%, and 90%, P < .0001) and 24-month unadjusted treatment-free probability (55%, 81%, and 79%, P < .0001), for men with nonRA confirmatory tests, no confirmatory test, and RA confirmatory tests, respectively. Excluding patients with genomic confirmatory tests, men with RA confirmatory tests were associated with a lower hazard (hazard ratio [HR] 0.57, 95% confidence interval [CI] 0.38-0.84, P = .005) and men with nonRA confirmatory tests had an increased hazard (HR 1.97, 95% CI 1.22-3.19, P = .006) of surveillance disease reclassification compared with men without confirmatory tests in the multivariable model. These data suggest men with RA confirmatory tests have less surveillance biopsy reclassification and remain on AS longer than men with nonRA test results. Confirmatory tests may help risk stratify men considering active surveillance.

Hearing Impairments in Preterm Infants: Factors Associated with Discrepancies between Screening and Confirmatory Test Results

Hearing Impairments in Preterm Infants: Factors Associated with Discrepancies between Screening and Confirmatory Test Results

Prenatal diagnosis of mosaic trisomy 2 and literature review

BackgroundWe presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, single nucleotide polymorphism array(SNP-array), interphase fluorescence in situ hybridization (FISH) were employed to detect the chromosomal abnormality.ResultsCytogentic analysis of the case 1 and 2 showed a mosaic karyotype consisting of two cell lines (mos 47,XY,+2[8]/46,XY[19] and mos 47,XX,+2[7]/46,XX[28], respectively). SNP-array using DNA extracted from uncultured amniotic fluid cells revealed a result of arr[GRCh38](2)x2~3, which indicated that chromosome 2 may be trisomy of mosaicism in both two cases. The results of interphases FISH confirmation test showed that three red signals of the CEP 2 specific probe in 14%(14/100) and 12%(12/100) of the two cases’ cells, respectively, which indicated a mosaicism for trisomy 2 in the uncultured amniocytes. Fetal ultrasound of case 1 suggested that the long bone is smaller than the gestational age, while the case 2 showed that the biparietal diameter (BPD), head circumference (HC) and femur length (FL) were smaller than gestational age along with abnormal cardiac structure.ConclusionsWe presented two cases with mosaic trisomy 2 and performed confirmatory genetic testing using cultured and uncultured amniocytes. When maternal serum screening and NIPT suggesting high risk, genetic counselor should be alert for increasing possibility of chromosomal anomalies if combined with abnormal ultrasound findings.

Grey relational analysis for multi-response optimization of process parameters in green electrical discharge machining of Ti-6Al-4V alloy

This paper presents optimization of process parameters in electrical discharge machining (EDM) of Ti-6Al-4 V alloy with multiple responses using grey relational analysis. The responses considered in this study are metal removal rate (MRR), surface roughness (Ra) and recast layer thickness (RLT) whereas process parameters are discharge current, pulse on time and pulse off time and graphite powder concentration(g/l). The approach uses weighted grey relational grade as performance index to determine optimal levels of parameters. Based on weighted grey relational grade, optimal levels of parameters are identified and their percentage contributions are determined by analysis of variance. It is found that pulse on time is the significant parameter for multi-response optimization in this study. The results of confirmation test indicate percentage improvements in MRR, Ra and RLT as 5.60%, 2.33%and 5.97% respectively. Hence grey relational analysis can be effectively used for continuous improvement in EDM quality in modern manufacturing industries.

Eosinopenia and COVID-19.

Early diagnosis of coronavirus disease 2019 (COVID-19) and patient isolation are important for both individual patient care and disease containment. The diagnosis is confirmed by testing for the presence of nasopharyngeal viral RNA with a polymerase chain reaction assay, which has limited availability, variable turnaround time, and a high false-negative rate. The authors report that a rapid laboratory test, the eosinophil count, readily obtained from a routine complete blood cell count (CBC), may provide actionable clinical information to aid in the early recognition of COVID-19 in patients, as well as provide prognostic information. To investigate the diagnostic and prognostic value of eosinopenia in COVID-19-positive patients. The eosinophil results of routine CBC from the first 50 admitted COVID-19-positive patients were compared with the eosinophil results of 50 patients with confirmed influenza infection at the time of presentation to the emergency department at Coney Island Hospital in Brooklyn, New York. The number of patients with 0 eosinophils on the day of presentation was also compared between the 2 groups. Furthermore, the eosinophil counts in the 50 COVID-19 patients were reviewed for the first 5 days of their hospital stay and before discharge, along with the outcome (deceased vs discharged), and trends in eosinophil data were compared based on the outcome. On the day of presentation, 30 patients in the COVID-19 group (60%) and 8 patients in the influenza group (16%) had an eosinophil count of 0. An additional 14 patients in the COVID-19 group had 0 eosinophils during the following 2 days; the total number of patients in the COVID-19 group who had 0 eosinophils on admission or during the ensuing 2 days was 44 (88%). In addition, 18 of 21 deceased patients in the COVID-19 group (86%) who initially presented with eosinopenia remained eosinopenic compared with 13 of 26 survivors (50%). The absence of an eosinophil count in a CBC can aid in early diagnosis of COVID-19. It may be a useful tool in deciding whether to promptly isolate a patient and initiate specific therapies while waiting for confirmatory test results. Persistent eosinopenia after admission correlated with high disease severity and low rates of recovery.

Experimental investigation and prediction of tribological behavior of unidirectional short castor oil fiber reinforced epoxy composites

The present study aims at introducing a newly developed natural fiber called castor oil fiber, termed ricinus communis, as a possible reinforcement in tribo-composites. Unidirectional short castor oil fiber reinforced epoxy resin composites of different fiber lengths with 40% volume fraction were fabricated using hand layup technique. Dry sliding wear tests were performed on a pin-on-disc tribometer based on full factorial design of experiments (DoE) at four fiber lengths (5, 10, 15, and 20 mm), three normal loads (15, 30, and 45 N), and three sliding distances (1,000, 2,000, and 3,000 m). The effect of individual parameters on the amount of wear, interfacial temperature, and coefficient of friction was studied using analysis of variance (ANOVA). The composite with 5 mm fiber length provided the best tribological properties than 10, 15, and 20 mm fiber length composites. The worn surfaces were analyzed under scanning electron microscope. Also, the tribological behavior of the composites was predicted using regression, artificial neural network (ANN)-single hidden layer, and ANN-multi hidden layer models. The confirmatory test results show the reliability of predicted models. ANN with multi hidden layers are found to predict the tribological performance accurately and then followed by ANN with single hidden layer and regression model.

Evaluation of Rapid Testing Algorithms for Venue-based Anonymous HIV Testing among Non-HIV-Positive Men Who Have Sex with Men, National HIV Behavioral Surveillance (NHBS), 2017

HIV rapid testing algorithms (RTAs) using any two orthogonal rapid tests (RTs) allow for on-site confirmation of infection. RTs vary in performance characteristics therefore the selection of RTs in an algorithm may affect identification of infection, particularly if acute. National HIV Behavioral Surveillance (NHBS) assessed RTAs among men who have sex with men recruited using anonymous venue-based sampling. Different algorithms were evaluated among participants who self-reported never having received a positive HIV test result prior to the interview. NHBS project areas performed sequential or parallel RTs using whole blood. Participants with at least one reactive RT were offered anonymous linkage to care and provided a dried blood spot (DBS) for testing at CDC. Discordant results (RT-1 reactive/RT-2 non-reactive) were tested at CDC with lab protocols modified for DBS. DBS were also tested for HIV-1 RNA (VL) and antiretroviral (ARV) drug levels. Of 6500 RTAs, 238 were RT-1 reactive; of those, 97.1% (231/238) had concordant results (RT-1/RT-2 reactive) and 2.9% (7/238) had discordant results. Five DBS associated with discordant results were available for confirmation at CDC. Four had non-reactive confirmatory test results that implied RT-1 false reactivity; one had ambiguous confirmatory test results which was non-reactive in further testing. Regardless of order and type of RT used, RTAs demonstrated high concordant results in the population surveyed. Additional laboratory testing on DBS following discordant results confirmed no infection. Implementing RTAs in the context of anonymous venue-based HIV testing could be an option when laboratory follow-up is not practicable.

Prevalence of Mucopolysaccharidosis I in A Paediatric and Young Adult Population, Diagnosed with Carpal Tunnel Syndrome

Introduction: Mucopolysaccharidosis type I (MPS-I: Hurler/Scheie´s disease) is a rare disease with a wide spectrum of severity. This results in underdiagnosis and delayed diagnosis. Prognosis greatly depends upon early diagnosis. The availability of reliable diagnostic tests and the existence of enzyme replacement therapy and/or hematopoietic stem cell transplantation, make an early diagnosis of these patients extremely important. Carpal tunnel syndrome (CTS) is among one of the most common findings in MPS I, whilst CTS is very uncommon in infancy and young adulthood. Objective: To ascertain the prevalence of MPS-I among children and young adults (≤ 30 years) diagnosed with CTS in our population. To get an early diagnosis of MPS-I patients. Material and Methods: This is a cross-sectional prospective study of a cohort of patients with an electromyogram-confirmed diagnosis of CTS. Our total population is over 600,000 people of an urban area of Madrid. We searched for children and young adults with suggestive symptoms of CTS. χ2 for categorical variables and Student “t” analysis or Anova test for quantitative variables were used. Results: 12 patients were included, 10 females, range 8-28 years, mean 23, median 23.5. Two patients had a low α-L-Iduronidase activity. Nonetheless, the results of confirmatory test of enzymatic activity of α-L-Iduronidase in lymphocytes were negative in both cases. Conclusions: We did not find any MPS-I in our series of CTS in children and young adults. Larger series will be needed to ascertain if this approach is valid for early diagnosis of MPS-I in the paediatric population.

A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center

ObjectiveTo evaluate the efficacy of non-invasive prenatal test (NIPT) in the detection of chromosomal aneuploidy according to the follow-up information from a single prenatal diagnosis center. MethodsA total of 40,311 cases were retrospectively reviewed. The screening was performed using a BGI protocol, pre-test and post-test genetic counseling was provided, and the pregnancy outcomes were recorded. The results of NIPT and clinical follow-up data were analyzed together with the pregnancy outcomes, confirmatory testing results, and ultrasound findings. ResultsOf the 40,311cases were includes in the study, successful follow-up was conducted in 468 (1.16%) cases with high risk, 225 (0.56%) cases with rare autosomal trisomy (RAT) and copy number variation (CNV). 39,572 (98.17%) cases with low risk and 623 (1.57%) cases of which were confirmed with adverse pregnancy outcomes. 46 (0.1%) cases with failed tests. Among them, 398 (84.7%) cases with high-risk results chose invasive testing, revealing 198 true positive cases. In cases with RAT and CNV results, 189 cases underwent invasive testing, revealing 5 cases RAT and 4 pathogenic CNVs. ConclusionsNIPT appears to be effective in detecting the fetal chromosomal aneuploidies T21, T18 and SCAs, but it exist false positive/negative cases, unconfirmed high-risk cfDNA results, and the high false positive rate in cases with RAT and CNV results implied the limitations of this screening method. Our study showed the importance to associate cfDNA screening results with clinical follow-up data and provided information that may help with result interpretation, genetic counseling and the decision making in clinic.

Multi Response Optimization of Spot Welding Process Parameters by Taguchi Method

Electrode deterioration by deformation and chemical reaction during resistance spot welding of steel sheets confirming to AISI1020 is an issue for class II electrode. In view of this, the present study carried out the impacts of squeeze, weld, current and pressure on the nugget diameter, height, force and waviness of welding joint in electrical resistance spot welding of 0.8mm and 1.5 mm thickness of steel sheets with class II electrode to achieve the benefits of cost saving and quality products. A timer and current controlled electrical resistance spot welding machine having 120 kVA capacities were used. During welding process, current periods of 5, 10, 15, 20 and 25 were selected and it was adjusted by increasing from 8 to 10 kA. The optimum welding parameter for multi objectives was obtained using multi signal to noise ratio and the significant level of the welding parameters was further analysed by analysis of variance for all responses. Based on the confirmation test results, it is found out that the developed model can be effectively used to predict the size of weld zone which can improve the welding quality and performance in GRA. The details of welded joint generated by class II electrode were measured and results were analysed in detail.

Confirmatory Test Results in Patients With a Reactive Anti-HIV Test Result: Four-Year Data

Confirmatory Test Results in Patients With a Reactive Anti-HIV Test Result: Four-Year Data

"Sex in the Time of COVID": Clinical Guidelines for Sexually Transmitted Disease Management in an Era of Social Distancing.

"Sex in the Time of COVID": Clinical Guidelines for Sexually Transmitted Disease Management in an Era of Social Distancing.

Evaluation of various confirmatory tests for the diagnosis of aldosterone-producing adenoma.

Introduction:Adrenal venous sampling is useful for discriminating unilateral and bilateral hypersecretion in patients with primary aldosteronism, but it is relatively invasive. To determine the site of hypersecretion more non-invasively, we evaluated predictors of unilateral hypersecretion.Materials and methods:We evaluated the baseline characteristics and the results of confirmatory tests of 123 patients with primary aldosteronism who underwent adrenal venous sampling.Results:Unilateral hypersecretion was identified in 22.0%. The plasma aldosterone concentration and aldosterone–renin ratio were significantly higher and serum potassium concentration and plasma renin activity were significantly lower in patients with unilateral hypersecretion. Plasma aldosterone concentrations after captopril challenge test, saline infusion test and rapid adrenocorticotropic hormone stimulation test were significantly higher among patients with unilateral hypersecretion. The plasma aldosterone concentration reduction ratio in saline infusion test and plasma aldosterone concentration elevation ratio during rapid adrenocorticotropic hormone stimulation test were significantly higher in patients with unilateral hypersecretion. However, areas under the curve for these parameters were not superior to the values after confirmatory tests.Conclusions:The plasma aldosterone concentration values after captopril challenge test, saline infusion test and rapid adrenocorticotropic hormone stimulation test were useful for identifying patients with unilateral hypersecretion. However, value changes or ratios during confirmatory tests are less useful for this aim.

Psychological Impact of NBS for CF.

Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children is less well understood. The time during which the screening result is communicated to families but before the confirmatory test results are available is recognised as a period of uncertainty and it is this uncertainty that can impact most on parents. Evidence suggests this may be mitigated against by ensuring the time between communication and confirmatory testing is minimized and health professionals involved in communicating positive newborn screening results and diagnostic results for cystic fibrosis to families are knowledgeable and able to provide appropriate reassurance. This is particularly important in the case of false positive results or when the child is given a Cystic Fibrosis Screen Positive, Inconclusive Diagnosis designation. However, to date, there are no formal mechanisms in place to support health professionals undertaking this challenging role, which would enable them to meet the expectations set out in specific guidance.

Baseline Plasma Aldosterone Level and Renin Activity Allowing Omission of Confirmatory Testing in Primary Aldosteronism.

Previous studies have proposed cutoff value of baseline plasma aldosterone concentration (bPAC) under renin suppression that could diagnose primary aldosteronism (PA) without confirmatory testing. However, those studies are limited by selection bias due to a small number of patients and a single-center study design. This study aimed to determine cutoff value of bPAC and baseline plasma renin activity (bPRA) for predicting positive results in confirmatory tests for PA. The multi-institutional, retrospective, cohort study was conducted using the PA registry in Japan (JPAS/JRAS). We compared bPAC in patients with PA who showed positive and negative captopril challenge test (CCT) or saline infusion test (SIT) results. Patients with PA who underwent CCT (n = 2256) and/or SIT (n = 1184) were studied. The main outcomes were cutoff value of bPAC (ng/dL) and bPRA (ng/mL/h) for predicting positive CCT and/or SIT results. In patients with renin suppression (bPRA ≤ 0.3), the cutoff value of bPAC that would give 100% specificity for predicting a positive SIT result was lower than that for predicting a positive CCT result (30.85 vs 56.35, respectively). Specificities of bPAC cutoff values ≥ 30.85 for predicting positive SIT and CCT results remained high (100.0% and 97.0%, respectively) in patients with bPRA ≤ 0.6. However, the specificities of bPAC cutoff values ≥ 30.85 for predicting positive SIT and CCT results decreased when patients with bPRA > 0.6 were included. Confirmatory testing could be omitted in patients with bPAC ≥ 30.85 in the presence of bPRA ≤ 0.6.