scholarly journals An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 140 ◽  
Author(s):  
Lin ◽  
Lee ◽  
Lo ◽  
Tu ◽  
Chang ◽  
...  
Keyword(s):  
At Risk ◽  
Screening Program ◽  
False Negative ◽  
False Negative Rate ◽  
Signs And Symptoms ◽  
Population Screening ◽  
Risk Population ◽  
Medical Specialists ◽  
Mps Iva ◽  
Mps I

Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a feasible MPS screening algorithm and established a cross-specialty collaboration platform between medical geneticists and other medical specialists based on at-risk criteria to allow for an earlier confirmative diagnosis of MPS. Methods: Children (<19 years of age) with clinical signs and symptoms compatible with MPS were prospectively enrolled from pediatric clinics between July 2013 and June 2018. Urine samples were collected for a non-specific total GAG analysis using the dimethylmethylene blue (DMB) spectrophotometric method, and the quantitation of three urinary GAGs (dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)) was performed by liquid chromatography/tandem mass spectrometry (LC-MS/MS). The subjects with elevated urinary GAG levels were recalled for leukocyte enzyme activity assay and genetic testing for confirmation. Results: Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years—three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). The major signs and symptoms with regards to different systems recorded by pediatricians at the time of the decision to test for MPS were the musculoskeletal system (55%), followed by the neurological system (45%) and coarse facial features (39%). For these 13 patients, the median age at the diagnosis of MPS was 2.9 years. The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. However, there were no false negative results with urinary DS, HS and KS using the MS/MS-based method. Conclusions: We established an at-risk population screening program for MPS by measuring urinary GAG fractionation biomarkers using the LC-MS/MS method. The program included medical geneticists and other medical specialists to increase awareness and enable an early diagnosis by detecting MPS at the initial onset of clinical symptoms.

Diagnostic Value of a Carpal Tunnel Corticosteroid Injection in Patients with Negative Electrodiagnostic Studies

2020 ◽  
Author(s):  
Brian M. Katt ◽  
Casey Imbergamo ◽  
Fortunato Padua ◽  
Joseph Leider ◽  
Daniel Fletcher ◽  
...  
Keyword(s):  
Carpal Tunnel ◽  
Corticosteroid Injection ◽  
Carpal Tunnel Release ◽  
False Negative ◽  
False Negative Rate ◽  
Signs And Symptoms ◽  
Diagnostic Value ◽  
Symptom Improvement ◽  
Study Cohort ◽  
Chi Square Analysis

Abstract Introduction There is a known false negative rate when using electrodiagnostic studies (EDS) to diagnose carpal tunnel syndrome (CTS). This can pose a management dilemma for patients with signs and symptoms that correlate with CTS but normal EDS. While corticosteroid injection into the carpal tunnel has been used in this setting for diagnostic purposes, there is little data in the literature supporting this practice. The purpose of this study is to evaluate the prognostic value of a carpal tunnel corticosteroid injection in patients with a normal electrodiagnostic study but exhibiting signs and symptoms suggestive of carpal tunnel, who proceed with a carpal tunnel release. Materials and Methods The group included 34 patients presenting to an academic orthopedic practice over the years 2010 to 2019 who had negative EDS, a carpal tunnel corticosteroid injection, and a carpal tunnel release. One patient (2.9%), where the response to the corticosteroid injection was not documented, was excluded from the study, yielding a study cohort of 33 patients. Three patients had bilateral disease, yielding 36 hands for evaluation. Statistical analysis was performed using Chi-square analysis for nonparametric data. Results Thirty-two hands (88.9%) demonstrated complete or partial relief of neuropathic symptoms after the corticosteroid injection, while four (11.1%) did not experience any improvement. Thirty-one hands (86.1%) had symptom improvement following surgery, compared with five (13.9%) which did not. Of the 32 hands that demonstrated relief following the injection, 29 hands (90.6%) improved after surgery. Of the four hands that did not demonstrate relief after the injection, two (50%) improved after surgery. This difference was statistically significant (p = 0.03). Conclusion Patients diagnosed with a high index of suspicion for CTS do well with operative intervention despite a normal electrodiagnostic test if they have had a positive response to a preoperative injection. The injection can provide reassurance to both the patient and surgeon before proceeding to surgery. Although patients with a normal electrodiagnostic test and no response to cortisone can still do well with surgical intervention, the surgeon should carefully review both the history and physical examination as surgical success may decrease when both diagnostic tests are negative. Performing a corticosteroid injection is an additional diagnostic tool to consider in the management of patients with CTS and normal electrodiagnostic testing.

scholarly journals P104: Evaluating the use of the pulmonary embolism rule-out criteria in the emergency department

CJEM ◽  
2018 ◽  
Vol 20 (S1) ◽  
pp. S93-S94
Author(s):  
S. Sharif ◽  
C. Kearon ◽  
M. Eventov ◽  
M. Li ◽  
P. Sneath ◽  
...  
Keyword(s):  
Emergency Department ◽  
Pulmonary Embolism ◽  
False Negative ◽  
False Negative Rate ◽  
Signs And Symptoms ◽  
Ct Scanning ◽  
Pulmonary Angiogram ◽  
Ct Angiogram ◽  
D Dimer ◽  
Rule Out

Introduction: Diagnosing pulmonary embolism (PE) can be challenging because the signs and symptoms are often non-specific. Studies have shown that evidence-based algorithms are not always adhered to in the Emergency Department (ED), which leads to unnecessary CT scanning. The pulmonary embolism rule-out criteria (PERC) can identify patients who can be safely discharged from the ED without further investigation for PE. The purpose of this study is to evaluate the use of the PERC rule in the ED and to compare the rates of testing for PE if the PERC rule was used. Methods: This was a health records review of ED patients investigated for PE at two emergency departments over a two-year period (April 2013-March 2015). Inclusion criteria were ED physician ordered CT pulmonary angiogram, ventilation-perfusion scan, or D-dimer for investigation of PE. Patients under the age of 18 were excluded. PE was considered to be present during the emergency department visit if PE was diagnosed on CT or VQ (subsegmental level or above), or if the patient was subsequently found to have PE or deep vein thrombosis during the next 30 days. Trained researchers extracted anonymized data. The rate of CT/VQ imaging and the negative predictive value was calculated. Results: There were 1,163 patients that were tested for PE and 1,097 patients were eligible for our analysis. Of the total, 330/1,097 (30.1%; 95%CI 27.4-32.3%) had CT/VQ imaging for PE, and 48/1,097 (4.4%; 95%CI 3.3-5.8%) patients were diagnosed with PE. 806/1,097 (73.5%; 95%CI 70.8-76.0%) were PERC positive, and of these, 44 patients had a PE (5.5%; 95%CI 4.1-7.3%). Conversely, 291/1,097 (26.5%; 95%CI 24.0-29.2%) patients were PERC negative, and of these, 4 patients had a PE (1.4%; 95%CI 0.5-3.5%). Of the PERC negative patients, 291/291 (100.0%; 95%CI 98.7-100.0%) had a D-dimer test done, and 33/291 (11.3%; 95%CI 8.2-15.5%) had a CT angiogram. If PERC was used, CT/VQ imaging would have been avoided in 33/1,097 (3%; 95%CI 2.2-4.2%) patients and the D-dimer would have been avoided in 291/1,097 (26.5%; 95%CI 24.0-29.2%) patients. Conclusion: If the PERC rule was used in all patients with suspected PE, fewer patients would have further testing. The false negative rate for the PERC rule was low.

An Overview of Testing Procedures and Approaches for Identifying Endocrine Disrupting Substances

2001 ◽  
Vol 36 (2) ◽  
pp. 273-291 ◽  
Author(s):  
Joanne Parrott ◽  
Michael Wade ◽  
Gary Timm ◽  
Scott Brown
Keyword(s):  
Endocrine Disruptor ◽  
Screening Program ◽  
False Negative ◽  
False Negative Rate ◽  
Industrial Chemicals ◽  
Short Term ◽  
Testing Procedures ◽  
International Agencies ◽  
Scientific Organizations ◽  
Endocrine Disrupting

Abstract Concern over the potential effects of exposure to endocrine disrupting substances (EDS) has resulted in recommendations for the development of specific endocrine and reproductive tests for assessment and regulation of industrial chemicals and effluents. This document consolidates and summarizes the current approaches taken by international agencies and scientific organizations for testing and screening EDS in mammals and wildlife. The material has been gathered from the Organization for Economic Cooperation and Development meeting reports, U.S. Environmental Protection Agency's Endocrine Disruptor Screening and Testing Advisory Committee and Endocrine Disruptor Screening Program reports, and summaries of various meetings prepared by Canadian and U.S. representatives. There are commonalties between programs of individual countries and the international scientific groups in which they participate. In general, these international scientific organizations have envisioned tiered groups of tests. The first tier is composed of less complex tests and short-term assays (acute exposures) that are very responsive to EDS (and have a low 'false-negative' rate). Higher tiers contain longer tests encompassing partial and full lifecycles of organisms with assessment of functional reproductive and developmental endpoints. Compounds are less expensively screened in the first tier, and move on to more complex and expensive higher-tier tests only if necessary. We document the proposed EDS tests in mammals and wildlife (birds, fish, amphibians and invertebrates) and overview the European Union's approach to EDS research, monitoring and risk assessment. We conclude with a summary of the main recommendations from Canada's interagency workshop to develop priorities and proposed actions for EDS.

Examining High-Risk Children for Learning Problems in the Health Care Setting

PEDIATRICS ◽  
1990 ◽  
Vol 86 (3) ◽  
pp. 398-404
Author(s):  
James A. Blackman ◽  
Julie Bretthauer
Keyword(s):  
At Risk ◽  
High Risk ◽  
Child Behavior Checklist ◽  
Standardized Test ◽  
False Positive Rate ◽  
False Negative ◽  
False Negative Rate ◽  
High Risk Group ◽  
Learning Problems ◽  
High Risk Children

The validity of the Pediatric Evaluation of Educational Readiness (PEER) in evaluating high-risk 5-year-old children who passed developmental screenings through age 30 months was assessed by comparing it with a battery of standardized psychoeducational tests. High-risk children who "failed" the PEER scored significantly below those who "passed" the PEER on tests of verbal, perceptual-motor, and preacademic skills. Furthermore, scores on the PEER of the high-risk group were significantly below those of a normal comparison group. When the standardized test battery was used as the true indicator of developmental concerns, the sensitivity of the PEER averaged 0.60; specificity averaged 0.88. The overall hit rate was 78%. False-positive rate was 27%, the false-negative rate, 20%. Observations of behavior, including attention and activity, correlated at the .63 level (P &lt; .001) with those made independently by a psychometrist. The correlation of these observations to ratings of behavior by parents on the Child Behavior Checklist was .32 (P &lt; .001). It is concluded that the PEER distinguishes between groups of children at risk and not at risk for learning problems; however, in individual cases, the PEER and the standardized test agreed that a child had problems only 60% of the time. Thus two out of five children who may have problems would be missed by the PEER. The observations of behavior feature of the PEER seemed to be a reliable measure and to have some relationship to concerns indicated by parents. With the health history and physical examination, the PEER can assist in the developmental surveillance of children known to be at risk for learning problems. However, based on this study, it cannot be recommended for screening of general populations.

Succinate dehydrogenase mutations: paraganglioma imaging and at-risk population screening

2019 ◽  
Vol 74 (3) ◽  
pp. 169-177 ◽  
Author(s):  
T. Cavenagh ◽  
J. Patel ◽  
N. Nakhla ◽  
A. Elstob ◽  
M. Ingram ◽  
...  
Keyword(s):  
At Risk ◽  
Succinate Dehydrogenase ◽  
Population Screening ◽  
Risk Population

scholarly journals eTumorRisk, an algorithm predicts cancer risk based on comutated gene networks in an individual’s germline genome

2018 ◽  
Author(s):  
Jinfeng Zou ◽  
Edwin Wang
Keyword(s):  
High Risk ◽  
Cancer Risk ◽  
Gene Networks ◽  
False Negative ◽  
False Negative Rate ◽  
High Risk Population ◽  
Risk Population ◽  
Cancer Early Detection ◽  
Cancer Types ◽  
High Risk Cancer

AbstractEarly cancer detection has potentials to reduce cancer burden. A prior identification of the high-risk population of cancer will facilitate cancer early detection. Traditionally, cancer predisposition genes such as BRCA1/2 have been used for identifying high-risk population of developing breast and ovarian cancers. However, such high-risk genes have only a few. Moreover, the complexity of cancer hints multiple genes involved but also prevents from identifying such predictors for predicting high-risk subpopulation. Therefore, we asked if the germline genomes could be used to identify high-risk cancer population. So far, none of such predictive models has been developed. Here, by analyzing of the germline genomes of 3,090 cancer patients representing 12 common cancer types and 25,701 non-cancer individuals, we discovered significantly differential co-mutated gene pairs between cancer and non-cancer groups, and even between cancer types. Based on these findings, we developed a network-based algorithm, eTumorRisk, which enables to predict individuals’ cancer risk of six genetic-dominant cancers including breast, colon, brain, leukemia, ovarian and endometrial cancers with the prediction accuracies of 74.1-91.7% and have 1-3 false-negatives out of the validating samples (n=14,701). The eTumorRisk which has a very low false-negative rate might be useful in screening of general population for identifying high-risk cancer population.

HPV test self collection versus CO-testing (2015-2018): New experience in a screening program in a northern province of Argentina, Tucumán.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13063-e13063
Author(s):  
Juan Jose Zarba ◽  
Silvia Victoria Holgado ◽  
Conrado Oscar Cinto ◽  
Veronica Ali ◽  
Maria Fernanda Arrieta ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
At Risk ◽  
Biological Material ◽  
Pap Smear ◽  
Screening Program ◽  
Pap Test ◽  
Uterine Cervical Cancer ◽  
Cervical Cancer Prevention ◽  
Population Screening ◽  
Hpv Test

e13063 Background: The benefits of population screening under the program in women at risk of uterine cervical cancer both methodsof detection, the search of lesions by gynecological cytology or the search for infection by oncogenic virus of the VPH family is widely demonstrated. Each of them has considerations to favor and others against. In Tucuman the two are applied since December 2014. Objective:to analyze partial results of the first stage of application of two methods under population screening program in women at risk of cervical cancer in Tucumán, Argentina. Methods: We analized the period December 2014 December 2018 of the files of the national register (SITAM: Sistema de Información de tamizaje- It is an on-line information system that allows the nominalized registration of women who access studies, diagnoses and treatments for the prevention of cervical cancer).49337samples from non-pregnant, aged 30 and older women without health insurance were included. 2 collection methods were applied: "Co-testing" (CT), cytological for PAP test and biological sampling for HPV Test ((T-HPV) and "Self-collected sampling" (SC) biological material for T-HPV. In cytology, Pap smear were stained with Papanicolaou and for the biological material, T-HPV Hybrid Capture was applied to detect 13 oncogenic HPV types. Bethesda System was used for cytological diagnosis. Results: until 2019 January, 49337 samples were processed, 7352 (14,8%) womenhave HPV oncogenic. Conclusions: the application of T-HPV to SC samples showed a interesting positivity,demonstrating once again T-HPV is an important strategy in the cervical cáncer prevention program.[Table: see text]

Fine-tuning of routine combined first- trimester screening: The ratio of serum-free- beta-human chorionic gonadotropin (fβ-hCG) to pregnancy-associated plasma protein-A (PAPP-A) could improve performance of Down syndrome screening program, a retrospective cohort study in Iran

2020 ◽  
Vol 28 (3) ◽  
pp. 203-210
Author(s):  
Sarang Younesi ◽  
Mohammad Mahdi Taheri Amin ◽  
Pourandokht Saadati ◽  
Bahareh Yazdani ◽  
Soudabeh Jamali ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Screening Program ◽  
False Negative ◽  
False Negative Rate ◽  
First Trimester ◽  
Fine Tuning ◽  
Medical Laboratory ◽  
First Trimester Screening ◽  
Intermediate Group ◽  
Trimester Screening

OBJECTIVES: To evaluate the performance of the current national screening policy for Down syndrome (DS) in Iran and suggest a more efficient protocol with a wealth of a large series of first-trimester screening (FTS) data obtained from Nilou medical laboratory. To fulfill this aim, detection rate (DR), positive screening rate (PSR), false negative rate (FNR) and odds of being affected given a positive results (OAPR) were calculated at different cutoff risk. In the latest update of DS screening program in Iran, there is no place for intermediate group to be further investigated. Next, we proposed a novel parameter namely the ratio of fβ-hCG multiple of the median (MoM) value to PAPP-A MoM value to delicately categorize FTS results in a way that reduce FNR without imposing unnecessary anxious and extra money on most families. METHODS: The present investigation was conducted retrospectively on 197,210 pregnancies undergoing FTS for aneuploidies in Nilou medical laboratory, Tehran, Iran, from March 2015 to February 2016. RESULTS: Intermediate risk group is important as 23 out of 45 FN fell in the range 1:250 to 1:1100. By applying the proposed index, the ratio of fβ-hCG MoM to PAPP-A MoM and subsequent decision about NIPT, 8 out of 23 FN cases in intermediate group could be detected. CONCLUSION: Compared with the current policy, our novel proposed approach had better performance and could be applied by the Iran National Health Service to improve the screening program guideline.

scholarly journals Longitudinal Screening for Diabetic Retinopathy in a Nationwide Screening Program: Comparing Deep Learning and Human Graders

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Jirawut Limwattanayingyong ◽  
Variya Nganthavee ◽  
Kasem Seresirikachorn ◽  
Tassapol Singalavanija ◽  
Ngamphol Soonthornworasiri ◽  
...  
Keyword(s):  
Diabetic Retinopathy ◽  
Deep Learning ◽  
Screening Program ◽  
False Negative ◽  
False Negative Rate ◽  
Lower Sensitivity ◽  
Patients With Diabetes ◽  
Fundus Photographs ◽  
New Onset

Objective. To evaluate diabetic retinopathy (DR) screening via deep learning (DL) and trained human graders (HG) in a longitudinal cohort, as case spectrum shifts based on treatment referral and new-onset DR. Methods. We randomly selected patients with diabetes screened twice, two years apart within a nationwide screening program. The reference standard was established via adjudication by retina specialists. Each patient’s color fundus photographs were graded, and a patient was considered as having sight-threatening DR (STDR) if the worse eye had severe nonproliferative DR, proliferative DR, or diabetic macular edema. We compared DR screening via two modalities: DL and HG. For each modality, we simulated treatment referral by excluding patients with detected STDR from the second screening using that modality. Results. There were 5,738 patients (12.3% STDR) in the first screening. DL and HG captured different numbers of STDR cases, and after simulated referral and excluding ungradable cases, 4,148 and 4,263 patients remained in the second screening, respectively. The STDR prevalence at the second screening was 5.1% and 6.8% for DL- and HG-based screening, respectively. Along with the prevalence decrease, the sensitivity for both modalities decreased from the first to the second screening (DL: from 95% to 90%, p = 0.008 ; HG: from 74% to 57%, p < 0.001 ). At both the first and second screenings, the rate of false negatives for the DL was a fifth that of HG (0.5-0.6% vs. 2.9-3.2%). Conclusion. On 2-year longitudinal follow-up of a DR screening cohort, STDR prevalence decreased for both DL- and HG-based screening. Follow-up screenings in longitudinal DR screening can be more difficult and induce lower sensitivity for both DL and HG, though the false negative rate was substantially lower for DL. Our data may be useful for health-economics analyses of longitudinal screening settings.

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