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  1. Article ; Online: The Roth score as a triage tool for detecting hypoxaemia in general practice: a diagnostic validation study in patients with possible COVID-19.

    Ten Broeke, Charlotte E M / Himmelreich, Jelle C L / Cals, Jochen W L / Lucassen, Wim A M / Harskamp, Ralf E

    Primary health care research & development

    2021  Volume 22, Page(s) e56

    Abstract: Aim: To validate the Roth score as a triage tool for detecting hypoxaemia.: Backgrounds: The virtual assessment of patients has become increasingly important during the corona virus disease (COVID-19) pandemic, but has limitations as to the ... ...

    Abstract Aim: To validate the Roth score as a triage tool for detecting hypoxaemia.
    Backgrounds: The virtual assessment of patients has become increasingly important during the corona virus disease (COVID-19) pandemic, but has limitations as to the evaluation of deteriorating respiratory function. This study presents data on the validity of the Roth score as a triage tool for detecting hypoxaemia remotely in potential COVID-19 patients in general practice.
    Methods: This cross-sectional validation study was conducted in Dutch general practice. Patients aged ≥18 with suspected or confirmed COVID-19 were asked to rapidly count from 1 to 30 in a single breath. The Roth score involves the highest number counted during exhalation (counting number) and the time taken to reach the maximal count (counting time).Outcome measures were (1) the correlation between both Roth score measurements and simultaneous pulse oximetry (SpO2) on room air and (2) discrimination (c-statistic), sensitivity, specificity and predictive values of the Roth score for detecting hypoxaemia (SpO2 < 95%).
    Findings: A total of 33 physicians enrolled 105 patients (52.4% female, mean age of 52.6 ± 20.4 years). A positive correlation was found between counting number and SpO2 (rs = 0.44, P < 0.001), whereas only a weak correlation was found between counting time and SpO2 (rs = 0.15, P = 0.14). Discrimination for hypoxaemia was higher for counting number [c-statistic 0.91 (95% CI: 0.85-0.96)] than for counting time [c-statistic 0.77 (95% CI: 0.62-0.93)]. Optimal diagnostic performance was found at a counting number of 20, with a sensitivity of 93.3% (95% CI: 68.1-99.8) and a specificity of 77.8% (95% CI: 67.8-85.9). A counting time of 7 s showed the best sensitivity of 85.7% (95% CI: 57.2-98.2) and specificity of 81.1% (95% CI: 71.5-88.6).
    Conclusions: A Roth score, with an optimal counting number cut-off value of 20, maybe of added value for signalling hypoxaemia in general practice. Further external validation is warranted before recommending integration in telephone triage.
    MeSH term(s) Adult ; Aged ; COVID-19 ; Cross-Sectional Studies ; Family Practice ; Female ; Humans ; Hypoxia/diagnosis ; Male ; Middle Aged ; SARS-CoV-2 ; Triage
    Language English
    Publishing date 2021-10-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 2027892-5
    ISSN 1477-1128 ; 1463-4236
    ISSN (online) 1477-1128
    ISSN 1463-4236
    DOI 10.1017/S1463423621000347
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

    Seppälä, Toni T / Ahadova, Aysel / Dominguez-Valentin, Mev / Macrae, Finlay / Evans, D Gareth / Therkildsen, Christina / Sampson, Julian / Scott, Rodney / Burn, John / Möslein, Gabriela / Bernstein, Inge / Holinski-Feder, Elke / Pylvänäinen, Kirsi / Renkonen-Sinisalo, Laura / Lepistö, Anna / Lautrup, Charlotte Kvist / Lindblom, Annika / Plazzer, John-Paul / Winship, Ingrid /
    Tjandra, Douglas / Katz, Lior H / Aretz, Stefan / Hüneburg, Robert / Holzapfel, Stefanie / Heinimann, Karl / Valle, Adriana Della / Neffa, Florencia / Gluck, Nathan / de Vos Tot Nederveen Cappel, Wouter H / Vasen, Hans / Morak, Monika / Steinke-Lange, Verena / Engel, Christoph / Rahner, Nils / Schmiegel, Wolff / Vangala, Deepak / Thomas, Huw / Green, Kate / Lalloo, Fiona / Crosbie, Emma J / Hill, James / Capella, Gabriel / Pineda, Marta / Navarro, Matilde / Blanco, Ignacio / Ten Broeke, Sanne / Nielsen, Maartje / Ljungmann, Ken / Nakken, Sigve / Lindor, Noralane / Frayling, Ian / Hovig, Eivind / Sunde, Lone / Kloor, Matthias / Mecklin, Jukka-Pekka / Kalager, Mette / Møller, Pål

    Hereditary cancer in clinical practice

    2019  Volume 17, Page(s) 8

    Abstract: Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (: Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the ... ...

    Abstract Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (
    Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance.
    Results: Stage at diagnosis and interval between last prospective surveillance colonoscopy and diagnosis were available for 209 patients with 218 CRCs, including 162
    Conclusions: The CRC stage and interval since last colonoscopy were not correlated, which is in conflict with the accelerated adenoma-carcinoma paradigm. We have previously reported that more frequent colonoscopy is not associated with lower incidence of CRC in
    Language English
    Publishing date 2019-02-28
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 2252512-9
    ISSN 1897-4287 ; 1731-2302
    ISSN (online) 1897-4287
    ISSN 1731-2302
    DOI 10.1186/s13053-019-0106-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

    Møller, Pål / Seppälä, Toni / Dowty, James G / Haupt, Saskia / Dominguez-Valentin, Mev / Sunde, Lone / Bernstein, Inge / Engel, Christoph / Aretz, Stefan / Nielsen, Maartje / Capella, Gabriel / Evans, Dafydd Gareth / Burn, John / Holinski-Feder, Elke / Bertario, Lucio / Bonanni, Bernardo / Lindblom, Annika / Levi, Zohar / Macrae, Finlay /
    Winship, Ingrid / Plazzer, John-Paul / Sijmons, Rolf / Laghi, Luigi / Valle, Adriana Della / Heinimann, Karl / Half, Elizabeth / Lopez-Koestner, Francisco / Alvarez-Valenzuela, Karin / Scott, Rodney J / Katz, Lior / Laish, Ido / Vainer, Elez / Vaccaro, Carlos Alberto / Carraro, Dirce Maria / Gluck, Nathan / Abu-Freha, Naim / Stakelum, Aine / Kennelly, Rory / Winter, Des / Rossi, Benedito Mauro / Greenblatt, Marc / Bohorquez, Mabel / Sheth, Harsh / Tibiletti, Maria Grazia / Lino-Silva, Leonardo S / Horisberger, Karoline / Portenkirchner, Carmen / Nascimento, Ivana / Rossi, Norma Teresa / da Silva, Leandro Apolinário / Thomas, Huw / Zaránd, Attila / Mecklin, Jukka-Pekka / Pylvänäinen, Kirsi / Renkonen-Sinisalo, Laura / Lepisto, Anna / Peltomäki, Päivi / Therkildsen, Christina / Lindberg, Lars Joachim / Thorlacius-Ussing, Ole / von Knebel Doeberitz, Magnus / Loeffler, Markus / Rahner, Nils / Steinke-Lange, Verena / Schmiegel, Wolff / Vangala, Deepak / Perne, Claudia / Hüneburg, Robert / de Vargas, Aída Falcón / Latchford, Andrew / Gerdes, Anne-Marie / Backman, Ann-Sofie / Guillén-Ponce, Carmen / Snyder, Carrie / Lautrup, Charlotte K / Amor, David / Palmero, Edenir / Stoffel, Elena / Duijkers, Floor / Hall, Michael J / Hampel, Heather / Williams, Heinric / Okkels, Henrik / Lubiński, Jan / Reece, Jeanette / Ngeow, Joanne / Guillem, Jose G / Arnold, Julie / Wadt, Karin / Monahan, Kevin / Senter, Leigha / Rasmussen, Lene J / van Hest, Liselotte P / Ricciardiello, Luigi / Kohonen-Corish, Maija R J / Ligtenberg, Marjolijn J L / Southey, Melissa / Aronson, Melyssa / Zahary, Mohd N / Samadder, N Jewel / Poplawski, Nicola / Hoogerbrugge, Nicoline / Morrison, Patrick J / James, Paul / Lee, Grant / Chen-Shtoyerman, Rakefet / Ankathil, Ravindran / Pai, Rish / Ward, Robyn / Parry, Susan / Dębniak, Tadeusz / John, Thomas / van Overeem Hansen, Thomas / Caldés, Trinidad / Yamaguchi, Tatsuro / Barca-Tierno, Verónica / Garre, Pilar / Cavestro, Giulia Martina / Weitz, Jürgen / Redler, Silke / Büttner, Reinhard / Heuveline, Vincent / Hopper, John L / Win, Aung Ko / Lindor, Noralane / Gallinger, Steven / Le Marchand, Loïc / Newcomb, Polly A / Figueiredo, Jane / Buchanan, Daniel D / Thibodeau, Stephen N / Ten Broeke, Sanne W / Hovig, Eivind / Nakken, Sigve / Pineda, Marta / Dueñas, Nuria / Brunet, Joan / Green, Kate / Lalloo, Fiona / Newton, Katie / Crosbie, Emma J / Mints, Miriam / Tjandra, Douglas / Neffa, Florencia / Esperon, Patricia / Kariv, Revital / Rosner, Guy / Pavicic, Walter Hernán / Kalfayan, Pablo / Torrezan, Giovana Tardin / Bassaneze, Thiago / Martin, Claudia / Moslein, Gabriela / Ahadova, Aysel / Kloor, Matthias / Sampson, Julian R / Jenkins, Mark A

    Hereditary cancer in clinical practice

    2022  Volume 20, Issue 1, Page(s) 36

    Abstract: Objective: To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.: Methods: CRC ... ...

    Abstract Objective: To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants.
    Methods: CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands.
    Results: In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups.
    Conclusions: Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.
    Language English
    Publishing date 2022-10-01
    Publishing country Poland
    Document type Journal Article
    ZDB-ID 2252512-9
    ISSN 1897-4287 ; 1731-2302
    ISSN (online) 1897-4287
    ISSN 1731-2302
    DOI 10.1186/s13053-022-00241-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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