Novel diagnostic procedure

RNA sequencing uncovers clinically actionable germline intronic MSH2 variants in previously unresolved Lynch syndrome families
Kelly Fulk, Morgan Turner, Amanda Eppolito, Rebekah Krukenberg

BMJ Case Reports CP Apr 2022, 15 (4) e249580; DOI: 10.1136/bcr-2022-249580
Giant cerebral tuberculoma mimicking a high-grade tumour in a child
Magriet Van Niekerk, Pierre Goussard, Ronald Van Toorn, Regan Solomons

BMJ Case Reports CP Apr 2022, 15 (4) e248545; DOI: 10.1136/bcr-2021-248545
Heart failure decompensation alerts in a patient’s home using an automated, AI-driven, point-of-care device
Oriane Elisabeth Chausiaux, Melanie Keyser, Gareth Paul Williams, Michał Nieznański, Philip James Downer, Rebecca Ellen Garnett, Rhiannon Berry, Shamus Louis Godfrey Husheer

BMJ Case Reports CP Apr 2022, 15 (4) e248682; DOI: 10.1136/bcr-2021-248682
Utility of 3D-T2 space MRI sequence in diagnosing a rare cause of lower backache: horseshoe cord and meningocoele manqué in a case of composite split cord malformation
Sanjay Khaladkar, Pranav Ajmera, Snehal Rathi

BMJ Case Reports CP Mar 2022, 15 (3) e248615; DOI: 10.1136/bcr-2021-248615
Pathological haemodynamics of a middle cerebral artery stenosis validated by computational fluid dynamics
Katsuhiro Tanaka, Fujimaro Ishida, Satoru Tanioka, Hidenori Suzuki

BMJ Case Reports CP Mar 2022, 15 (3) e244519; DOI: 10.1136/bcr-2021-244519
Serial ERG monitoring of response to therapy in vitamin A deficiency related night blindness
B Poornachandra, Chaitra Jayadev, Shama Sharief, Rohit Shetty

BMJ Case Reports CP Mar 2022, 15 (3) e247856; DOI: 10.1136/bcr-2021-247856
Use of Venous Excess UltraSound (VExUS) score in hyponatraemia management in critically ill patient
Rita Varudo, Inês Pimenta, Jacobo Bacariza Blanco, Filipe André Gonzalez

BMJ Case Reports CP Feb 2022, 15 (2) e246995; DOI: 10.1136/bcr-2021-246995
Usefulness of renal diffusion-weighted magnetic resonance imaging for early diagnosis of tubulointerstitial nephritis and uveitis (TINU) syndrome
Honami Kawai, Yoshio Suzuki, Toshiaki Shiojiri

BMJ Case Reports CP Feb 2022, 15 (2) e246434; DOI: 10.1136/bcr-2021-246434
Why does activated partial thromboplastin time prolongation occur in severe fever with thrombocytopenia syndrome?
Atsushi Mizoe, Junya Sakaue, Noriko Takahara

BMJ Case Reports CP Oct 2020, 13 (10) e235447; DOI: 10.1136/bcr-2020-235447
Tomoelastography for non-invasive detection of ameloblastoma and metastatic neck lymph nodes
Marie Beier, Ingolf Sack, Benedicta Beck-Broichsitter, Bernd Hamm, Stephan Rodrigo Marticorena Garcia

BMJ Case Reports CP Sep 2020, 13 (9) e235930; DOI: 10.1136/bcr-2020-235930

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Novel diagnostic procedure

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