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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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TREC Based Newborn screening for Severe Combined Immunodeficiency Disease: A Systematic Review

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JOURNAL OF CLINICAL IMMUNOLOGY 2015年第4期35卷 416-430页

作者： van der Spek, Jet Groenwold, Rolf H. H. van der Burg, Mirjam van Montfrans, Joris M. Univ Med Ctr Utrecht Dept Pediat Immunol & Infect Dis NL-3508 AB Utrecht Netherlands Univ Med Ctr Utrecht Julius Ctr Hlth Sci & Primary Care NL-3508 AB Utrecht Netherlands Univ Med Ctr Rotterdam Erasmus MC Dept Immunol Rotterdam Netherlands

Background Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based SCID screening were reported. Purpose To systematically review the diagnostic performance of published algorithms for TREC based NBS for SCID. Methods PubMed, EMBASE and the Cochrane Library were systematically searched for case series and prospective cohort studies describing TREC based NBS for SCID. We extracted TREC content and cut-off values, number of retests, repeat DBS and referrals, and type and number of typical SCID and other T cell lymphopenia (TCL) cases. We calculated positive predictive value (PPV), test sensitivity and SCID incidence. Results Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. In case series, the sensitivity for typical SCID was 100 %. In the prospective cohort studies, SCID incidence was similar to 1.7:100,000, re-test rate was 0.20-3.26 %, repeat DBS rate 0.0-0.41 % and referral rate 0.01-1.35 %. PPV within the five largest cohorts was 0.8-11.2 % for SCID and 18.3-81.0 % for TCL. Individual TREC contents in all SCID patients was < 25 TRECs/mu l (except in those evaluated with the New York State assay). Conclusions The sensitivity of TREC based NBS for typical SCID was 100 %. The TREC cut-off score determines the percentage of non-SCID TCL cases detected in newborn screening for TCL. Adapting the screening algorithm for pre-term/ill infants reduces the amount of false positive test results.

关键词： Severe Combined Immunodeficiency T-cell lymphopenia newborn screening T-cell receptor excisions circles screening algorithm systematic review

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Pilot testing of an online training module about screening for acute HIV infection in adult patients seeking urgent healthcare

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INTERNATIONAL HEALTH 2019年第2期11卷 93-100页

作者： Rafferty, Hannah Chirro, Oscar Oduor, Clifford Wahome, Elizabeth Ngoi, Caroline van der Elst, Elise Berger, Rene Rowland-Jones, Sarah Graham, Susan M. Sanders, Eduard J. KEMRI Wellcome Trust Res Programme Ctr Geog Med R P Box 230 Kilifi Kenya USAID Nairobi Kenya Univ Oxford Nuffield Dept Med Oxford OX3 7BN England Univ Washington 359909325 Ninth Ave Seattle WA 98104 USA

Background Acute HIV infection (AHI) is the phase of HIV infection immediately after acquisition, during which many patients develop symptoms and often seek healthcare. However, clinicians in sub-Saharan Africa are not currently taught about AHI. Methods This study pilot-tested a self-directed AHI training module among clinical officers (COs) in coastal Kenya and assessed knowledge gained and challenges to instituting screening. The training module included four domains: AHI definition and importance of AHI recognition;symptoms and screening algorithms;diagnostic strategies;and management. AHI knowledge was assessed before and immediately after training. Participants' ability to utilize an AHI screening algorithm was evaluated with a case-based exercise. Results Self-directed training was completed by 45 COs. Pre-test scores were low (median score 35% IQR 30-45%), but improved significantly after training (median post-test score 75%, IQR 70-85%, Wilcoxon signed-rank test p<0.0001). Participants had challenges in understanding the utility and application of a screening algorithm to identify patients for whom AHI testing would be indicated. Knowledge of AHI was poor at baseline, but improved with self-directed learning. Based on these findings, we revised and improved the AHI training module and pre- and post-assessments, which are now freely available online at ***. Conclusions Guidelines on AHI screening and diagnosis are urgently needed in high HIV transmission areas.

关键词： acute HIV infection febrile patient online learning screening algorithm self-directed learning

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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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COVID-19 and Acute Heart Failure: screening the Critically Ill - A Position Statement of the Cardiac Society of Australia and New Zealand (CSANZ)

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HEART LUNG AND CIRCULATION 2020年第7期29卷 E94-E98页

作者： Lal, Sean Hayward, Christopher S. De Pasquale, Carmine Kaye, David Javorsky, George Bergin, Peter Atherton, John J. Ilton, Marcus K. Weintraub, Robert G. Nair, Priya Rudas, Mate Dembo, Lawrence Doughty, Robert N. Kumarasinghe, Gayathri Juergens, Craig Bannon, Paul G. Bart, Nicole K. Chow, Clara K. Lattimore, Jo-Dee Kritharides, Leonard Totaro, Richard Macdonald, Peter S. Royal Prince Alfred Hosp Sydney NSW Australia Univ Sydney Sydney NSW Australia St Vincents Hosp Sydney NSW Australia Univ New South Wales Sydney NSW Australia Flinders Med Ctr Adelaide SA Australia Flinders Univ S Australia Adelaide SA Australia Alfred Hosp Melbourne Vic Australia Baker Heart & Diabet Inst Melbourne Vic Australia Prince Charles Hosp Brisbane Qld Australia Univ Queensland Brisbane Qld Australia Royal Brisbane & Womens Hosp Brisbane Qld Australia Royal Darwin Hosp Darwin NT Australia Royal Childrens Hosp Melbourne Vic Australia Univ Melbourne Melbourne Vic Australia Fiona Stanley Hosp Perth WA Australia Auckland Dist Hlth Board Auckland New Zealand Univ Auckland Auckland New Zealand Liverpool Hosp Sydney NSW Australia Westmead Hosp Sydney NSW Australia Concord Repatriat Gen Hosp Sydney NSW Australia

Up to one-third of COVID-19 patients admitted to intensive care develop an acute cardiomyopathy, which may represent myocarditis or stress cardiomyopathy. Further, while mortality in older patients with COVID-19 appears related to multi-organ failure complicating acute respiratory distress syndrome (ARDS), the cause of death in younger patients may be related to acute heart failure. Cardiac involvement needs to be considered early on in critically ill COVID-19 patients, and even after the acute respiratory phase is passing. This Statement presents a screening algorithm to better identify COVID-19 patients at risk for severe heart failure and circulatory collapse, while balancing the need to protect health care workers and preserve personal protective equipment (PPE). The significance of serum troponin levels and the role of telemetry and targeted transthoracic echocardiography (TTE) in patient investigation and management are addressed, as are fundamental considerations in the management of acute heart failure in COVID-19 patients.

关键词： COVID-19 Acute cardiomyopathy Myocarditis High sensitivity troponin Targeted transthoracic echocardiogram screening algorithm

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Rapid deployment of an algorithm to triage dental emergencies during COVID-19 pandemic

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JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION 2021年第9期28卷 1996-2001页

作者： Perelman, Sharon C. Erde, Steven Torre, Lynda Ansari, Tunaidi Columbia Univ Div Operat Dent Coll Dent Med New York NY 10027 USA Columbia Univ Div Oral & Maxillofacial Pathol Coll Dent Med New York NY 10027 USA

COVID-19 quickly immobilized healthcare systems in the United States during the early stages of the outbreak. While much of the ensuing response focused on supporting the medical infrastructure, Columbia University College of Dental Medicine pursued a solution to triage and safely treat patients with dental emergencies amid the pandemic. Considering rapidly changing guidelines from governing bodies, dental infection control protocols, and our clinical faculty's expertise, we modeled, built, and implemented a screening algorithm, which provides decision support as well as insight into COVID-19 status and clinical comorbidities, within a newly integrated electronic health record (EHR). Once operationalized, we analyzed the data and outcomes of its utilization and found that it had effectively guided providers in triaging patient needs in a standardized methodology. This article describes the algorithm's rapid development to assist faculty providers in identifying patients with the most urgent needs, thus prioritizing treatment of dental emergencies during the pandemic.

关键词： screening algorithm telehealth COVID-19 dental emergencies electronic health records

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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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Switching from expectorated to induced sputum cultures for tuberculosis diagnosis reduces cost without increasing risk

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AMERICAN JOURNAL OF INFECTION CONTROL 2019年第8期47卷 1022-1024页

作者： Mohiuddin, Qasim A. Parkes, Leighanne Gardam, Michael Univ Hlth Network Infect Prevent & Control Toronto ON Canada Jewish Gen Hosp Div Infect Dis Montreal PQ Canada Jewish Gen Hosp Dept Med Montreal PQ Canada CIUSSS Ctr Ouest Ile de Montreal Infect Prevent & Control Montreal PQ Canada Toronto Western Hosp TB Clin Toronto ON Canada Univ Toronto Toronto ON Canada

Active pulmonary tuberculosis testing with 3 expectorated sputa can increase isolation days and expenditures compared with 1 induced sputum. Six-month retrospective and prospective chart reviews were conducted, and a screening algorithm was phased into 2 hospital sites. With induced sputum testing, isolation decreased from 7 to 4 days (interquartile range, 4-3, P = .0135), and there was a cost savings of $7,275 per case, with no added harm. (C) 2019 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

关键词： TB Isolation days Expenditures screening algorithm General medicine Airborne precautions

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Bayesian analysis of baseline risk of CIN2 and ≥CIN3 by HPV genotype in a European referral cohort

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INTERNATIONAL JOURNAL OF CANCER 2019年第4期145卷 1033-1041页

作者： Bonde, Jesper Bottari, Fabio Parvu, Valentin Pedersen, Helle Yanson, Karen Iacobone, Anna D. Kodsi, Salma Landoni, Fabio Vaughan, Laurence Ejegod, Ditte M. Sandri, Maria T. Univ Copenhagen Hvidovre Hosp Dept Pathol Mol Pathol Lab Kettegard Alle 30 DK-2650 Hvidovre Denmark European Inst Oncol Lab Med Div Milan Italy Becton Dickinson & Co Sparks MD USA European Inst Oncol Prevent Gynecol Unit Milan Italy Univ Milano Bicocca Dept Med & Surg Milan Italy Humanitas Res Hosp Lab Anal Clin Milan Italy

Whereas HPV16 and HPV18 have been the focus in current risk-based cervical cancer screening algorithms using HPV genotype information, mounting evidence suggests that oncogenic HPV types such as HPV31, 33, 52 and 58 pose a >= CIN3 risk equivalent to or greater than that of HPV18, and the combined risk of HPV31 and HPV33 rivals even HPV16 in women above 30 years of age. Here, we evaluate the baseline risk of CIN2 and CIN3 by genotype in a colposcopy referral population from Denmark and Italy. In total, 655 women were enrolled upon a referral to colposcopy after a positive screening sample. All samples were HPV analyzed using Onclarity HPV assay with extended genotyping and combined with the histology outcomes, a Bayesian probability modeling was used to determine the risk per genotype assessed. The combined data for this referral population showed that the >= CIN2 risk of HPV16 was 69.1%, HPV31 at 63.3%, HPV33/58 at 52.7%, HPV18 at 46.6% and HPV52 at 40.8%. For >= CIN3, the risks were 44.3%, 38.5%, 36.8%, 30.9% and 16.8% for HPV16, HPV31, HPV18, HPV33/58 and HPV52, respectively, indicating that the baseline risk of disease arising from HPV16 is, not surprisingly, the highest among the oncogenic HPV genotypes. We find that the HPV genotype-specific >= CIN2 and >= CIN3 risk-patterns are so distinct that, for example, 35/39/68 and 56/59/66 should be considered only for low intensive follow-up, thereby proposing active use of this information in triage strategies for screening HPV-positive women.

关键词： HPV bayesian cervical cancer cervical screening genotypes referral population risk analysis 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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