Christopher T. Bowles

UK multisociety consensus statement on the emergency management and resuscitation of patients with left-sided Impella support

Waqas Akhtar, Christopher T. Bowles, Pierluigi Costanzo, Charles D. Deakin et autres

The use of left-sided Impella microaxial flow pumps has expanded rapidly for the management of cardiogenic shock, left ventricular unloading and as a bridge to heart transplantation. However, standard life support and resuscitation algorithms are not directly applicable to patients receiving this …

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Cardiopulmonary resuscitation in LVAD patients

Waqas Akhtar, Alex Rosenberg, Christopher T. Bowles

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Direct oral anticoagulants in left ventricular assist devices: Where are we now?

Leticia Blazquez-Arroyo, Guglielmo Gallone, Luca Baldetti, Mario Gramegna et autres

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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer

Sophie Allen, Charlie F Rowlands, Samantha Butler, Miranda Durkie et autres

PURPOSE: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This article quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH. METHODS: likelihood ratios (LLRs) as …

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Analysis of survival time in patients receiving cardiac implantable devices after heart transplantation

Ewa Świerżyńska-Wodarska, Christopher T. Bowles, Binu Raj, Maria Monteagudo Vela et autres

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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Sophie Allen, Lucy Loong, Alice Garrett, Bethany Torr et autres

BACKGROUND: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level data from National Health Service (NHS) testing of cancer susceptibility genes (2002-2023) submitted to the …

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GLH-NDRS Centralised Data Submission Survey Results

Sue Allen, Lucy Loong, Amy Garrett, Bethany Torr et autres

Full responses from the 2023 UK CSG Diagnostic Laboratory Survey component focused on centralised data submission to PHE/NHSD and LIMS system organisation. To preserve anonymity, free-text comments are not provided.

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GLH-NDRS Centralised Data Submission Survey Results

Sue Allen, Lucy Loong, Amy Garrett, Bethany Torr et autres

Full responses from the 2023 UK CSG Diagnostic Laboratory Survey component focused on centralised data submission to PHE/NHSD and LIMS system organisation. To preserve anonymity, free-text comments are not provided.

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi, Sophie Allen et autres

PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice. METHODS: We used as a …

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SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

Sophie Therese Williams, Prodromos Chatzikyriakou, Paul Carroll, Barbara M. McGowan et autres

OBJECTIVE: Phaeochromocytomas and paragangliomas (PPGL) are rare, but strongly heritable tumours. Variants in succinate dehydrogenase (SDH) subunits are identified in approximately 25% of cases. However, clinical and genetic information of patients with SDHC variants are underreported. DESIGN: This retrospective case series collated …

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Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective

Jonathan Mark Fussey, Joel Anthony Smith, Ruth Cleaver, Christopher T. Bowles et autres

OBJECTIVE: Diagnostic germline RET analysis is offered to all patients with a diagnosis of medullary thyroid carcinoma (MTC), or other conditions associated with multiple endocrine neoplasia type 2 (MEN2) in the United Kingdom. Here, we report the experience of a single centre's …

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3D Cardiac Shape Prediction with Deep Neural Networks: Simultaneous Use\n of Images and Patient Metadata

Rahman Attar, Marco Pereañez, Christopher Bowles, Stefan K. Piechnik et autres

Large prospective epidemiological studies acquire cardiovascular magnetic\nresonance (CMR) images for pre-symptomatic populations and follow these over\ntime. To support this approach, fully automatic large-scale 3D analysis is\nessential. In this work, we propose a novel deep neural network using both CMR\nimages and patient metadata …