Louise Wallis

Genome-wide analysis defines genetic determinants of MPN subtypes and identifies a sex-specific association at CDH22 / CD40

William Tapper, Ahmed A. Z. Dawoud, Joannah Score, Andrew Chase et autres

ABSTRACT: To identify genetic variants that influence myeloproliferative neoplasm (MPN) phenotypes, we undertook a 2-stage patient-only genome-wide association study. MPN subtypes (essential thrombocythemia [ET]; polycythemia vera [PV]) were compared with each other to healthy controls and stratified analyses was performed for chromosome …

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Mympnvoice - a Novel Smartphone App for Monitoring Patient Reported Outcomes and Biometric Data in Patients with Myeloproliferative Neoplasms

Patrick Harrington, KIM M. SUMMERS, Andrea Preston, Debbie Street et autres

Aims: To improve monitoring and understanding of patient reported outcomes (PRO) and biometric data in myeloproliferative neoplasm (MPN) patients through innovative development of a smartphone app linked to a wearable device. Methods: The MyMPNVoice app and associated study (IRAS 332286) launched in …

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Decomposition of Wood in Landfills: Review of Literature

Kuluni Millaniyage, Louise Wallis, Nathan Kotlarewski

For decades, landfill-sites have been used as the main disposal method in Australia for wood and engineered wood products. Even though the long-term storage of sawn-wood products in landfill-sites have been reasonably well-documented, knowledge of the carbon in engineered wood products is …

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Results of a national UK physician reported survey of COVID-19 infection in patients with a myeloproliferative neoplasm

Richard Anthony Salisbury, Natalia Curto‐García, Jennifer O’Sullivan, Frederick Chen et autres

The COVID-19 pandemic caused by the spread of SARS-CoV-2 virus has already had a catastrophic impact with more than 1.4 million deaths worldwide as of 29 November 2020 [ 1 ]. Many countries including the UK attempted to control spread of the …

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Maximising health science student volunteers for the COVID-19 response: A valuable resource

S Verhage, I Kim, S Ndereya, Kerrin Begg et autres

Maximising health science student volunteers for the COVID-19 response: A valuable resourceTo the Editor: In response to COVID-19, a nationwide lockdown was initiated in South Africa (SA) on 27 March 2020, to minimise transmission of the virus and give the healthcare sector …

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Whole-genome sequence analysis of environmental Escherichia coli from the faeces of straw-necked ibis (Threskiornis spinicollis) nesting on inland wetlands

Ethan R. Wyrsch, Piklu Roy Chowdhury, Louise Wallis, Max Laurence Cummins et autres

Wildlife, and birds in particular, play an increasingly recognized role in the evolution and transmission of Escherichia coli that pose a threat to humans. To characterize these lineages and their potential threat from an evolutionary perspective, we isolated and performed whole-genome sequencing …

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Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia

Nicholas C.P. Cross, Yvette Hoade, William Tapper, Gonzalo Carreño‐Tarragona et autres

Determining the underlying cause of persistent eosinophilia is important for effective clinical management but remains a diagnostic challenge in many cases. We identified STAT5B N642H, an established oncogenic mutation, in 27/1715 (1.6%) cases referred for investigation of eosinophilia. Of the 27 mutated …

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Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry

Jitendra PS. Sawhney, Veerappa Annasaheb Kothiwale, Vikas Bisne, Rajashekhar Durgaprasad et autres

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes …

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Cytogenetically cryptic ZMYM2-FLT3 and DIAPH1-PDGFRB gene fusions in myeloid neoplasms with eosinophilia

Mohamad Jawhar, Nicole Naumann, Marcin Knut, J Score et autres

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GENETIC VARIATION AT HBS1L-MYB AND GFI1B-GTF3C5 INFLUENCES WHETHER JAK2 V617F MUTATED MPN PRESENT WITH ET OR PV

Ncp Cross, Alessandro Maria Vannucchi, Steffen Koschmieder, A. Green et autres

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

William Tapper, Amy V. Jones, Róbert Královics, Ashot S. Harutyunyan et autres

Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a three-stage genome-wide association study of 3,437 MPN cases and 10,083 controls, we identify two SNPs …

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Are Outcomes Worse For Patients With Polycythemia Vera compared to Polycythemia Of Unknown Cause? – a Retrospective Analysis Of Single Institution Patient Cohorts

Joseph M. Chacko, Sara Boyce, Sally B. Killick, Rachel Hall et autres

Abstract Background The JAK2 V617F mutation is present in almost 95% of patients with Polycythemia Vera (PV). Prior to the discovery of this mutation, red cell mass and plasma volume measurement to establish the presence of true erythrocytosis was required first, before …

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