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Evaluating the Modified American Academy of Pediatrics screening algorithm for Critical Congenital Heart Disease

AMERICAN JOURNAL OF PERINATOLOGY 2025年第5期42卷 674-682页

作者： Hoff, Hannah Quary, Sharon Keesari, Rohali Oster, Matthew E. Baylor Coll Med Dept Internal Med Houston TX USA Northside Hosp Dept Pediat Atlanta GA USA Emory Univ Sch Med Dept Pediat Atlanta GA USA Childrens Healthcare Atlanta Dept Cardiol Atlanta GA USA

Objective In 2018, an expert panel recommended two key modifications to the most used algorithm for screening neonates for critical congenital heart disease (CCHD). Our aim was to evaluate the outcomes of the modified algorithm compared with those of the original algorithm in a real-world setting. Study Design We compared the performance characteristics of an original CCHD algorithm used to screen term neonates at a large hospital system between October 26, 2018, and October 15, 2020, and the recommended modified algorithm used between October 15, 2020, and June 30, 2022. We calculated sensitivity, specificity, false positive rate, proportion of false positives with non-CCHD illness, and error rates of test administration and interpretation for each algorithm. Results Sensitivity was not significantly different between the modified algorithm compared with the original algorithm (40.00 vs. 12.50%, p >= 0.99), but specificity was lower (and hence false positive rate was higher) in the modified algorithm (99.91 vs. 99.98%, p < 0.001). Despite a higher false positive rate in the modified algorithm, the proportion of false positives with significant non-CCHD illness was similar (36.47 vs. 28.57%, p >= 0.99), a finding that translated to an increase in the number of cases of significant non-CCHD illness detected (11 cases out of 32,178 screens vs. 2 cases out of 32,984 screens). Error rates of test administration and interpretation were similar between the two algorithms. Conclusion In this limited study, the modified algorithm for CCHD screening using pulse oximetry had a higher false positive rate than that of the original American Academy of Pediatrics algorithm. However, this higher rate led to an increased overall number of cases detected of significant non-CCHD illness. Key Points Experts recommend two changes to the American Academy of Pediatrics-endorsed CCHD screen. This study evaluates the new algorithm for screening. The new algorithm detects at least as many c

关键词： critical congenital heart disease pulse oximetry screening algorithm

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Clinical Validation of a Primary Antibody Deficiency screening algorithm for Primary Care

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JOURNAL OF CLINICAL IMMUNOLOGY 2023年第8期43卷 2022-2032页

作者： Messelink, Marianne A. Welsing, Paco M. J. Devercelli, Giovanna Marsden, Jan Willem N. Leavis, Helen L. Univ Med Ctr Utrecht Dept Rheumatol & Clin Immunol Utrecht Netherlands Takeda Dev Ctr Amer Deerfield IL USA

Purpose The diagnostic delay of primary antibody deficiencies (PADs) is associated with increased morbidity, mortality, and healthcare costs. Therefore, a screening algorithm was previously developed for the early detection of patients at risk of PAD in primary care. We aimed to clinically validate and optimize the PAD screening algorithm by applying it to a primary care database in the Netherlands. Methods The algorithm was applied to a data set of 61,172 electronic health records (EHRs). Four hundred high-scoring EHRs were screened for exclusion criteria, and remaining patients were invited for serum immunoglobulin analysis and referred if clinically necessary. Results Of the 104 patients eligible for inclusion, 16 were referred by their general practitioner for suspected PAD, of whom 10 had a PAD diagnosis. In patients selected by the screening algorithm and included for laboratory analysis, prevalence of PAD was 1:10 versus 1:1700-1:25,000 in the general population. To optimize efficiency of the screening process, we refitted the algorithm with the subset of high-risk patients, which improved the area under the curve-receiver operating characteristics curve value to 0.80 (95% confidence interval 0.63-0.97). We propose a two-step screening process, first applying the original algorithm to distinguish high-risk from low-risk patients, then applying the optimized algorithm to select high-risk patients for serum immunoglobulin analysis. Conclusion Using the screening algorithm, we were able to identify 10 new PAD patients from a primary care population, thus reducing diagnostic delay. Future studies should address further validation in other populations and full cost-effectiveness analyses.

关键词： Primary antibody deficiencies primary care database diagnostic delay screening algorithm validation study

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A conservative screening algorithm to determine candidacy for robotic mitral valve surgery

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JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY 2022年第4期164卷 1080-1087页

作者： Chemtob, Raphaelle A. Wierup, Per Mick, Stephanie L. Javorski, Michael J. Burns, Daniel J. P. Blackstone, Eugene H. Svensson, Lars G. Gillinov, A. Marc Cleveland Clin Dept Thorac & Cardiovasc Surg Heart Vasc & Thorac Inst Cleveland OH 44195 USA Cleveland Clin Lerner Res Inst Quantitat Hlth Sci Cleveland OH 44195 USA

Objective: Patient selection for robotically assisted mitral valve repair remains controversial. We assessed outcomes of a conservative screening algorithm developed to select patients with degenerative mitral valve disease for robotic surgery. Methods: From January 2014 to January 2019, a screening algorithm that included transthoracic echocardiography and computed tomography scanning was rigorously applied by 3 surgeons to assess candidacy of 1000 consecutive patients with isolated degenerative mitral valve disease (age 58 +/- 11 years, 67% male) for robotic surgery. screening results and hospital outcomes of those selected for robotic versus sternotomy approaches were compared. Results: With application of the screening algorithm, 605 patients were selected for robotic surgery. Common reasons for sternotomy (n = 395) were aortoiliac atherosclerosis (n = 74/292, 25%), femoral artery diameter <7 mm (n = 60/292, 20%), mitral annular calcification (n = 83/390, 21%), aortic regurgitation (n = 100/391, 26%), and reduced left ventricular function (n = 126/391, 32%). Mitral valve repair was accomplished in 996. Compared with sternotomy, patients undergoing robotic surgery had less new-onset atrial fibrillation (n = 144/582, 25% vs n = 125/373, 34%;P = .002), fewer red blood cell transfusions (n = 61/601, 10% vs 69/395, 17%;P < .001), and shorter hospital stay (5.2 +/- 2.9 days vs 5.9 +/- 2.1 days;P < .001). No hospital deaths occurred, and occurrence of postoperative stroke in the robotic (n = 3/605, 0.50%) and sternotomy (n = 4/395,1.0%;P = .3) groups was similar. Conclusions: This conservative screening algorithm qualified 60% of patients with isolated degenerative mitral valve disease for robotic surgery. Outcomes were comparable with those obtained with sternotomy, validating this as an approach to select patients for robotic mitral valve surgery.

关键词： mitral valve repair mitral valve replacement robotic surgery minimally invasive screening algorithm

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Efficient screening algorithm of selenium resistant mutants of arabidopsis thaliana

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JOURNAL OF DISCRETE MATHEMATICAL SCIENCES & CRYPTOGRAPHY 2018年第2期21卷 345-349页

作者： Li, Na Wu, Xiao Zhang, Xingtao Zhao, Liang Suzhou Univ Sch Biol & Food Engn Suzhou 234000 Peoples R China

Using the current method to screen and analyze the resistant mutant of Arabidopsis thaliana, there is a problem that the antioxidant capacity is poor. In this paper, an efficient algorithm for screening resistant mutants of Arabidopsis thaliana in vitro is proposed. in this study, the Arabidopsis thaliana selenium-resistant mutants are extracted and by combining the in vitro extraction, the in vitro screening method is used to screen the Selenium-resistant mutants of Arabidopsis thaliana, so as to realize the in vitro screening method research and analysis for Arabidopsis thaliana. The experimental results show that the algorithm can effectively improve the selenium resistant of Arabidopsis thaliana.

关键词： Arabidipsis thaliana Selenium resistant screening algorithm

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Prospective evaluation of a screening algorithm for carbapenemase-producing Enterobacteriaceae

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JOURNAL OF CLINICAL LABORATORY ANALYSIS 2019年第3期33卷 e22706-e22706页

作者： Choquet, Morgane Guiheneuf, Raphael Castelain, Sandrine Pluquet, Emilie Decroix, Veronique Amiens Univ Hosp Dept Bacteriol Amiens France Jules Verne Univ Picardie Microbiol Res Unit AGIR EA4294 Amiens France

Background Carbapenemase-producing Enterobacteriaceae (CPE) have become a major public health issue. The objective of the present study was to prospectively assess the analytical performance of a CPE detection algorithm based on phenotypic tests (the screening test) and MALDI-ToF hydrolysis (the confirmatory test). Methods Over a 6-month period and based on a disk diffusion method, 74 carbapenem-resistant strains were included in this study. Results Of the collected isolates, 54 turned out to be negative after phenotypic tests. Hence, 20 strains (including all of the CPEs) were checked with the confirmation test. Seven strains were positive. After molecular biology assessments in a reference center, three of the seven were found to be false positives. The algorithm had a negative predictive value and a sensitivity of 100%, a specificity of 77%, and a positive predictive value of 20%. Conclusion The algorithm has a 24-hour turnaround time and helps to avoid using expensive molecular biology tests;we consider that it can be used on a routine basis for screening clinical strains.

关键词： carbapenem carbapenemase-producing Enterobacteriaceae prospective resistance screening algorithm

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Sensitivity of a Simple Noninvasive screening algorithm for Chronic Thromboembolic Pulmonary Hypertension after Acute Pulmonary Embolism

TH open : companion journal to thrombosis and haemostasis

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TH open : companion journal to thrombosis and haemostasis 2018年第1期2卷 e89-e95页

作者： Yvonne M Ende-Verhaar Dieuwertje Ruigrok Harm Jan Bogaard Menno V Huisman Lilian J Meijboom Anton Vonk Noordegraaf Frederikus A Klok Department of Thrombosis and Hemostasis Leiden University Medical Center Leiden The Netherlands. Department of Pulmonology VU University Medical Center Amsterdam The Netherlands. Department of Radiology and Nuclear Medicine VU University Medical Center Amsterdam The Netherlands.

Recently, we constructed a noninvasive screening algorithm aiming at earlier chronic thromboembolic pulmonary hypertension (CTEPH) detection after acute pulmonary embolism (PE), consisting of a prediction score and combined electrocardiography (ECG)/N-terminal pro-brain natriuretic peptide (NT-proBNP) assessment. The aim of this study was to confirm the algorithm's sensitivity for CTEPH detection and to evaluate the reproducibility of its individual items. Two independent researchers calculated the prediction score in 54 consecutive patients with a history of acute PE and proven CTEPH based on clinical characteristics at PE diagnosis, and evaluated the ECG and NT-proBNP level assessed at the moment of CTEPH diagnosis. Interobserver agreement for the assessment of the prediction score, right-to-left ventricle (RV/LV) ratio measurement on computed tomography pulmonary angiography, as well as ECG reading was evaluated by calculating Cohen's kappa statistics. Median time between PE diagnosis and presentation with CTEPH was 9 months (interquartile range: 5-15). The sensitivity of the algorithm was found to be 91% (95% confidence interval [CI]: 79-97%), indicating that 27 of 30 cases of CTEPH would have been detected when applying the screening algorithm to 1,000 random PE survivors with a 3% CTEPH incidence (projected negative predictive value: 99.7%; 95% CI: 99.1-99.9%). The interobserver agreement for calculating the prediction score, RV/LV ratio measurement, and ECG reading was excellent with a kappa of 0.96, 0.95, and 0.89, respectively. The algorithm had a high sensitivity of 91% and was highly reproducible. Prospective validation of the algorithm in consecutive PE patients is required before it can be used in clinical practice.

关键词： CTEPH pulmonary embolism reproducibility screening algorithm sensitivity

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Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up

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JOURNAL OF CYSTIC FIBROSIS 2024年第4期23卷 796-803页

作者： Pedersen, E. S. L. Carmen, C. M. de Jong Jurca, M. Berger, D. O. Sanz, J. Sluka, S. H. M. Poms, M. Baumgartner, M. R. Regamey, N. Kuehni, C. E. Barben, J. Rueegg, C. S. Swiss C, Swiss Cystic Fibrosis Newborn screening Group Univ Bern Inst Social & Prevent Med Bern Switzerland Univ Childrens Hosp Bern Dept Paediat Div Paediat Resp Med & Allergy Bern Switzerland Univ Childrens Hosp Basel Basel Switzerland Univ Hosp Bern Dept Human Genet Inselspital Bern Switzerland Univ Zurich Univ Childrens Hosp Zurich Newborn Screening Switzerland Zurich Switzerland Univ Zurich Univ Childrens Hosp Zurich Div Metab & Swiss Newborn Screening Zurich Switzerland Childrens Hosp Lucerne Div Paediat Pulmonol Luzern Switzerland Childrens Hosp Eastern Switzerland Paediat Pulmonol & CF Ctr St Gallen Switzerland Oslo Univ Hosp Oslo Ctr Biostat & Epidemiol Oslo Norway

Background: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change performance. Methods: The Swiss CF-NBS is based on an IRT-DNA algorithm with a second IRT (IRT-2) as safety net. We analysed data from 2011 to 2021, covering 959,006 IRT-1 analyses and 282 children with CF. We studied performance based on European Cystic Fibrosis Society (ECFS) standards including sensitivity, specificity, positive predictive value (PPV), false negative rate, and second heel-prick tests;identified optimal IRT cut-offs using receiver operating characteristics (ROC) curves;and calculated performance for simulated algorithms with different cut-offs for IRT-1, IRT-2, and safety net. Results: The Swiss CF-NBS showed excellent sensitivity (96 %, 10 false negative cases) but moderate PPV (25 %). Optimal IRT-1 and IRT-2 cut-offs were identified at 2.7 (>99th percentile) and 5.9 (>99.8th percentile) z-scores, respectively. Analysis of simulated algorithms showed that removing the safety net from the current algorithm could increase PPV to 30 % and eliminate >200 second heel-prick tests per year, while keeping sensitivity at 95 %. Conclusion: The Swiss CF-NBS program performed well over 11 years but did not achieve the ECFS standards for PPV (>= 30 %). Modifying or removing the safety net could improve PPV and reduce unnecessary follow-up tests while maintaining the ECFS standards for sensitivity.

关键词： Cystic fibrosis Newborn screening Evaluation Performance screening algorithm Safety net Sensitivity Specificity Positive predictive value Simulation

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Factors associated with positive predictive value of preliminary screening in a two-step screening strategy for colorectal neoplasms in China

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DISCOVER ONCOLOGY 2022年第1期13卷 4页

作者： Li, Ji-Bin Qiu, Zhi-Yu Deng, Yu-Xiang Li, Yin Lin, Zhuo-Chen Wu, Yan-Ping Weng, Fan Tian, Huan Ou, Qing-Jian Gong, Cheng-Hua Pan, Zhi-Zhong Wan, De-Sen Peng, Jian-Hong Fang, Yu-Jing Sun Yat Sen Univ Canc Ctr Guangzhou 510060 Peoples R China Collaborat Innovat Ctr Canc Med State Key Lab Oncol South China Guangzhou 510060 Peoples R China Sun Yat Sen Univ Affiliated Hosp 1 Dept Med Records Guangzhou 510060 Peoples R China Yuexiu Dist Ctr Dis Control & Prevent Guangzhou 510055 Peoples R China Dadong St Community Hlth Serv Ctr Guangzhou 510000 Peoples R China

Background The positive predictive value (PPV) of high risk factor questionnaire (HRFQ) plus fecal immunochemical test (FIT) as preliminary screening strategy for colorectal-related neoplasia is relatively low. We aim to explore independent factors associated with PPVs of HRFQ combined FIT for selecting high risk individuals for colonoscopy. Methods A total of 6971 residents were enrolled in a community-based screening program. Participants who had positive results of HRFQ and/or FIT and subsequently received colonoscopy were involved. The associations of socio-demographic factors, lifestyle behaviors, and high risk factors of colorectal cancer with PPVs of HRFQ, FIT, and their combination were evaluated by multivariable logistic regression models. Results Among 572 involved cases, 249 (43.5%) colorectal neoplasms were detected by colonoscopy, including 71 advanced adenoma (12.4%) and 9 colorectal cancer (CRC) (1.6%). The PPVs of preliminary screening were 43.5% for total colorectal neoplasms, 14.0% for advanced neoplasm, and 1.6% for CRC. Adding positive HRFQ to FIT could improve the PPV from 3.5 to 8.0% for detecting CRC. Preliminarily screened positive individuals who were males [adjusted odds ratio (AOR): 1.95, 95% CI 1.31, 2.90;p < 0.001], elders (> 60 years) (AOR: 1.70, 95% CI 1.17, 2.46;p = 0.005), or ex-/current smokers (AOR: 3.04, 95% CI 1.31, 7.09;p = 0.10) had higher odds of PPVs of detecting colorectal neoplasms. Conclusions Combining HRFQ and FIT could largely improve PPVs for screening advanced neoplasm and CRC. Gender and age-specific FIT cut-off values as well as initiating ages for CRC screening might be recommended to improve the accuracy and effectiveness of current screening algorithm.

关键词： Positive predictive value Preliminary screening screening algorithm Colorectal cancer

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Lynch syndrome-associated upper tract urothelial carcinoma frequently occurs in patients older than 60 years: an opportunity to revisit urology clinical guidelines

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VIRCHOWS ARCHIV 2023年第4期483卷 517-526页

作者： Pivovarcikova, Kristyna Pitra, Tomas Alaghehbandan, Reza Buchova, Karolina Steiner, Petr Hajkova, Veronika Ptakova, Nikola Subrt, Ivan Skopal, Josef Svajdler, Peter Farcas, Mihaela Slisarenko, Maryna Michalova, Kvetoslava Peterikova, Andrea Strakova Hora, Milan Michal, Michal Daum, Ondrej Svajdler, Marian Hes, Ondrej Charles Univ Prague Fac Med Sikls Dept Pathol Alej Svobody 80 Plzen 30460 Czech Republic Charles Univ Prague Fac Hosp Pilsen Alej Svobody 80 Plzen 30460 Czech Republic Biopticka Lab SRO Plzen Czech Republic Charles Univ Prague Fac Med Pilsen Dept Urol Plzen Czech Republic Cleveland Clin Robert J Tomsich Pathol & Lab Med Inst Dept Anat Pathol Cleveland OH USA Charles Univ Prague Fac Med Plzen Dept Med Genet Plzen Czech Republic Cytopathos SRO Bratislava Slovakia Onco Team Diagnost Bucharest Romania

Upper tract urothelial carcinoma (UTUC) is the third most common malignancy associated with Lynch syndrome (LS). The current European urology guidelines recommend screening for LS in patients with UTUC up to the age of 60 years. In this study, we examined a cohort of patients with UTUC for potential association with LS in order to establish the sensitivity of current guidelines in detecting LS. A total of 180 patients with confirmed diagnosis of UTUC were enrolled in the study during a 12-year period (2010-2022). Loss of DNA-mismatch repair proteins (MMRp) expression was identified in 15/180 patients (8.3%). Germline analysis was eventually performed in 8 patients confirming LS in 5 patients (2.8%), including 4 germline mutations in MSH6 and 1 germline mutation in MSH2. LS-related UTUC included 3 females and 2 males, with a mean age of 66.2 years (median 71 years, range 46-75 years). Four of five LS patients (all with MSH6 mutation) were older than 65 years (mean age 71.3, median 72 years). Our findings indicate that LS-associated UTUCs can occur in patients with LS older than 60 years. In contrast to previous studies which used mainly highly pre-selected populations with already diagnosed LS, the most frequent mutation in our cohort involved MSH6 gene. All MSH6 mutation carriers were > 65 years, and UTUC was the first LS manifestation in 2/4 patients. Using current screening guidelines, a significant proportion of patients with LS-associated UTUC may be missed. We suggest universal immunohistochemical MMRp screening for all UTUCs, regardless of age and clinical history.

关键词： Lynch syndrome Urothelial carcinoma Upper urinary tract MMR Immunohistochemistry screening algorithm

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A screening Protocol for Exploring Loop Length Requirements for the Formation of a Three Cytosine-Cytosine⁺ Base-Paired i-Motif

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ANGEWANDTE CHEMIE-INTERNATIONAL EDITION 2023年第41期62卷 e202309327-e202309327页

作者： Ghezzo, Michele Trajkovski, Marko Plavec, Janez Sissi, Claudia Univ Padua Dept Pharmaceut & Pharmacol Sci Via Marzolo 5 I-35131 Padua Italy Natl Inst Chem Slovenian NMR Ctr Hajdrihova 19 Ljubljana 1000 Slovenia

DNA sequences containing at least four runs of repetitive cytosines can fold into tetra-helical struc-tures called i-Motifs (iMs). The interest in these DNA secondary structures is increasing due to their therapeut-ical and technological applications. Still, limited knowl-edge of their folding requirements is currently available. We developed a novel step-by-step pipeline for the systematic screening of putative iM-forming model sequences. Focusing on structures comprising only three cytosine-cytosine+ base pairs, we investigated what the minimal lengths of the loops required for formation of an intra-molecular iM are. Our data indicate that two and three nucleotides are required to connect the strands through the minor and majorgrooves of the iM, respectively. Additionally, they highlight an asymmetric behavior according to the distribution of the cytosines. Specifically, no sequence containing a single cytosine in the first and third run was able to fold into intra-molecular iMs with the same stability of those formed when the first and the third run comprise two cytosines. This knowledge represents a step forward toward the development of prediction tools for the proper identi-fication of biologically functional iMs, as well as for the rational design of these secondary structures as techno-logical devices.

关键词： Calorimetry DNA i-Motif screening algorithm Spectroscopy

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