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Molecular Diagnostics & Diagnostic Imaging

  • Molecular analysis of acute pyelonephritis—excessive innate and attenuated adaptive immunity
    Open Access
    Molecular analysis of acute pyelonephritis—excessive innate and attenuated adaptive immunity

    Ines Ambite, Sing Ming Chao, Therese Rosenblad, Richard Hopkins, Petter Storm, Yong Hong Ng, Indra Ganesan, Magnus Lindén, Farhan Haq, Thi Hien Tran, Shahram Ahmadi, Bernett Lee, Swaine L Chen, Gabriela Godaly, Per Brandström, John E Connolly, Catharina Svanborg

    Ines Ambite ... Catharina Svanborg

    Published 20 December 2024

    Characteristics of a cytokine storm, with hyper-activated innate immunity and attenuated adaptive immunity in infants with acute pyelonephritis, defined by gene expression, urine protein, and exome sequence analysis.

  • Sensitive circulating tumor DNA–based residual disease detection in epithelial ovarian cancer
    Open Access
    Sensitive circulating tumor DNA–based residual disease detection in epithelial ovarian cancer

    Heini ML Kallio, Kalle Savolainen, Tuomo Virtanen, Lauri Ryyppö, Hanna Selin, Päivi Martikainen, Synnöve Staff, Kati Kivinummi, Joonatan Sipola, Juuso Vuorinen, Jussi Nikkola, Matti Nykter, Annika Auranen, Matti Annala

    Heini ML Kallio ... Matti Annala

    Published 5 April 2024

    Tumor-guided circulating tumor DNA analysis achieves high sensitivity and specificity for post-operative surveillance of epithelial ovarian cancer, including the first test of assays targeting thousands of mutations.

  • Genetic structure and diversity of the <em>rfb</em> locus of pathogenic species of the genus <em>Leptospira</em>
    Open Access
    Genetic structure and diversity of the rfb locus of pathogenic species of the genus Leptospira

    Leonardo CA Ferreira, Luiz de FA Ferreira Filho, Maria Raquel V Cosate, Tetsu Sakamoto

    Leonardo CA Ferreira ... Tetsu Sakamoto

    Published 21 March 2024

    This study provides a broad investigation of the gene composition of the rfb locus, the main genetic factor associated with serology in Leptospira, and opens the way for molecular diagnostics in leptospirosis.

  • Single variant, yet “double trouble”: TSC and KBG syndrome because of a large de novo inversion
    Open Access
    Single variant, yet “double trouble”: TSC and KBG syndrome because of a large de novo inversion

    Victoria Rodrigues Alves Barbosa, Tatiana Maroilley, Catherine Diao, Leslie Colvin-James, Renee Perrier, Maja Tarailo-Graovac

    Victoria Rodrigues Alves Barbosa ... Maja Tarailo-Graovac

    Published 22 January 2024

    Short-read genome sequencing identified an 87-Mb inversion in a patient with atypical Tuberous sclerosis. The inversion disrupts TSC2 and ANKRD11, resulting in dual diagnosis of TSC/KBG syndromes.

  • Cell-free chromatin immunoprecipitation to detect molecular pathways in heart transplantation
    Open Access
    Cell-free chromatin immunoprecipitation to detect molecular pathways in heart transplantation

    Moon Kyoo Jang, Tovah E Markowitz, Temesgen E Andargie, Zainab Apalara, Skyler Kuhn, Sean Agbor-Enoh

    Moon Kyoo Jang ... Sean Agbor-Enoh

    Published 20 September 2023

    Cell-free DNA chromatin immunoprecipitation detects molecular pathways and profiles the sources of tissue injury in heart transplant patients.

  • Sensitive visualization of SARS-CoV-2 RNA with CoronaFISH
    Open Access
    Sensitive visualization of SARS-CoV-2 RNA with CoronaFISH

    Elena Rensen, Stefano Pietropaoli, Florian Mueller, Christian Weber, Sylvie Souquere, Sina Sommer, Pierre Isnard, Marion Rabant, Jean-Baptiste Gibier, Fabiola Terzi, Etienne Simon-Loriere, Marie-Anne Rameix-Welti, Gérard Pierron, Giovanna Barba-Spaeth, Christophe Zimmer

    Elena Rensen ... Christophe Zimmer

    Published 7 January 2022

    We design an RNA-FISH method to target the plus and minus strands of SARS-CoV-2 RNA, and apply it to image the virus in cell lines, lung tissue, and nasal swabs, by fluorescence and electron microscopy.

  • Engineered RNA biosensors enable ultrasensitive SARS-CoV-2 detection in a simple color and luminescence assay
    Open Access
    Engineered RNA biosensors enable ultrasensitive SARS-CoV-2 detection in a simple color and luminescence assay

    Anirudh Chakravarthy, Anirudh Nandakumar, Geen George, Shyamsundar Ranganathan, Suchitta Umashankar, Nishan Shettigar, Dasaradhi Palakodeti, Akash Gulyani, Arati Ramesh

    Anirudh Chakravarthy ... Arati Ramesh

    Published 30 September 2021

    This work reports engineered toehold RNA–based biosensors for COVID-19 diagnostics, with a simple color or luminescence readout that makes it easily deployable in both well-equipped labs as well as low resource settings.

  • A serum proteome signature to predict mortality in severe COVID-19 patients
    Open Access
    A serum proteome signature to predict mortality in severe COVID-19 patients

    Franziska Völlmy, Henk van den Toorn, Riccardo Zenezini Chiozzi, Ottavio Zucchetti, Alberto Papi, Carlo Alberto Volta, Luisa Marracino, Francesco Vieceli Dalla Sega, Francesca Fortini, Vadim Demichev, Pinkus Tober-Lau, Gianluca Campo, Marco Contoli, Markus Ralser, Florian Kurth, Savino Spadaro, Paola Rizzo, Albert JR Heck

    Franziska Völlmy ... Albert JR Heck

    Published 5 July 2021

    A serum proteome panel, which includes several type-3 cystatins and inter-α-trypsin inhibitors, predicts mortality in severe COVID-19 patients very well, in three independent cohorts.

  • Prognostic accuracy of MALDI-TOF mass spectrometric analysis of plasma in COVID-19
    Open Access
    Prognostic accuracy of MALDI-TOF mass spectrometric analysis of plasma in COVID-19

    Lucas Cardoso Lazari, Fabio De Rose Ghilardi, Livia Rosa-Fernandes, Diego M Assis, José Carlos Nicolau, Veronica Feijoli Santiago, Talia Falcão Dalçóquio, Claudia B Angeli, Adriadne Justi Bertolin, Claudio RF Marinho, Carsten Wrenger, Edison Luiz Durigon, Rinaldo Focaccia Siciliano, Giuseppe Palmisano

    Lucas Cardoso Lazari ... Giuseppe Palmisano

    Published 24 June 2021

    High mortality rate in SARS-CoV-2–infected individuals requires accurate markers for predicting COVID-19 severity. MALDI-TOF analysis revealed differential plasma levels of SAA1 and SAA2 associated with higher risk of hospitalization and can be used to improve COVID-19 monitoring and therapy.

  • Comparative genomics of <em>Glandirana rugosa</em> using unsupervised AI reveals a high CG frequency
    Open Access
    Comparative genomics of Glandirana rugosa using unsupervised AI reveals a high CG frequency

    Yukako Katsura, Toshimichi Ikemura, Rei Kajitani, Atsushi Toyoda, Takehiko Itoh, Mitsuaki Ogata, Ikuo Miura, Kennosuke Wada, Yoshiko Wada, Yoko Satta

    Yukako Katsura ... Yoko Satta

    Published 12 March 2021

    Genome sequencing of a unique frog (Glandirana rugosa) having XY/ZW systems within the species and comparative genomics with other six frogs were performed using a batch-learning self-organizing map, which is unsupervised AI for oligonucleotide compositions, to clarify its genome characteristics.

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