Medicine and Health Sciences Commons^™

Detection Of Hfe Haemochromatosis In The Clinic And Community Using Standard Erythrocyte Tests, Niwansa Adris, Simon Hazeldine, Peter Bentley, Debbie Trinder, Anita C.G. Chua, Lawrie W. Powell, Louise E. Ramm, Grant A. Ramm, John K. Olynyk

Research outputs 2014 to 2021

Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. For both expressing and non-expressing HH subjects, the mean pre- and post-phlebotomy values of mean cell volume (MCV) and mean cell haemoglobin (MCH) …

Locus‐Specific Concordance Of Genomic Alterations Between Tissue And Plasma Circulating Tumor Dna In Metastatic Melanoma, Leslie Calapre, Tindaro Giardina, Cleo Robinson, Anna L. Reid, Zeyad Al-Ogaili, Michelle R. Pereira, Ashleigh C. Mcevoy, Lydia Warburton, Nicholas K. Hayward, Muhammad A. Khattak, Tarek M. Meniawy, Michael Millward, Benhur Amanuel, Melanie R. Ziman, Elin S. Gray

Research outputs 2014 to 2021

Circulating tumor DNA (ctDNA) may serve as a surrogate to tissue biopsy for noninvasive identification of mutations across multiple genetic loci and for disease monitoring in melanoma. In this study, we compared the mutation profiles of tumor biopsies and plasma ctDNA from metastatic melanoma patients using custom sequencing panels targeting 30 melanoma-associated genes. Somatic mutations were identified in 20 of 24 melanoma biopsies, and 16 of 20 (70%) matched-patient plasmas had detectable ctDNA. In a subgroup of seven patients for whom matching tumor tissue and plasma were sequenced, 80% of the mutations found in tumor tissue were also detected in …

Fasting Salivary Glucose Levels Is Not A Better Measure For Identifying Diabetes Mellitus Than Serum Or Capillary Blood Glucose Levels: Comparison In A Ghanaian Population, Richard K.D. Ephraim, Enoch Odame Anto, Emmanuel Acheampong, Linda Ahenkorah Fondjo, Richmond B. Barnie, Samuel Asamoah Sakyi, Ambrose Asare

Research outputs 2014 to 2021

Aims/introduction: We compared the diagnostic performance and correlation between salivary, serum and capillary blood glucose of diabetes and non-diabetes patients. Early detection of diabetes mellitus (DM) contributes to the prevention of complications and management. Materials and methods: This case-control study was conducted among a total of 138 participants comprising 79 newly diagnosed diabetes patients (cases) and 59 non-diabetes patients (controls). Fasting salivary glucose (FSLG), fasting serum glucose (FSEG) levels and fasting capillary whole blood glucose (FCWBG) level were assayed for each participant. Results: The mean FSLG, FSEG and FCWBG levels were significantly higher among the cases compared to controls (p …

Immunomagnetic-Enriched Subpopulations Of Melanoma Circulating Tumour Cells (Ctcs) Exhibit Distinct Transcriptome Profiles, Carlos Aya-Bonilla, Elin S. Gray, Jayapal Manikandan, James B. Freeman, Pauline Zaenker, Anna L. Reid, Muhammad A. Khattak, Markus H. Frank, Michael Millward, Mel Ziman

Research outputs 2014 to 2021

Cutaneous melanoma circulating tumour cells (CTCs) are phenotypically and molecularly heterogeneous. We profiled the gene expression of CTC subpopulations immunomagnetic-captured by targeting either the melanoma-associated marker, MCSP, or the melanoma-initiating marker, ABCB5. Firstly, the expression of a subset of melanoma genes was investigated by RT-PCR in MCSP-enriched and ABCB5-enriched CTCs isolated from a total of 59 blood draws from 39 melanoma cases. Of these, 6 MCSP-and 6 ABCB5-enriched CTC fractions were further analysed using a genome-wide gene expression microarray. The transcriptional programs of both CTC subtypes included cell survival maintenance, cell proliferation, and migration pathways. ABCB5-enriched CTCs were specifically characterised …

Monitoring Melanoma Recurrence With Circulating Tumor Dna: A Proof Of Concept From Three Case Studies, Ashleigh C. Mcevoy, Michelle R. Pereira, Anna Reid, Robert Pearce, Lester Cowell, Zeyad Al-Ogaili, Muhammad A. Khattak, Michael Millward, Tarek M. Meniawy, Elin S. Gray, Melanie R. Ziman

Research outputs 2014 to 2021

Background: A significant number of melanoma patients experience recurrence to distant sites, despite having had surgical treatment of the primary lesion, with curative intent. Monitoring of patients for early evidence of disease recurrence would significantly improve management of the disease, allowing timely therapeutic intervention. Circulating tumor DNA (ctDNA) is becoming a well-recognized biomarker for monitoring malignancies and has, in a few studies, been shown to signify disease recurrence earlier than conventional methods.

Methods: We performed a retrospective analysis of plasma ctDNA using droplet digital PCR (ddPCR) in 30 primary melanoma patients with tumors harboring BRAF, NRAS or TERT promoter mutations. …