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Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease (2023)
Journal Article
Grove, J. I., Lo, P. C., Shrine, N., Barwell, J., Wain, L. V., Tobin, M. D., …Aithal, G. P. (2023). Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease. JHEP Reports, 5(8), Article 100764. https://doi.org/10.1016/j.jhepr.2023.100764

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, de... Read More about Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

SteatoSITE: an Integrated Gene-to-Outcome Data Commons for Precision Medicine Research in NAFLD (2023)
Preprint / Working Paper
Fallowfield, J., Kendall, T., Jimenez-Ramos, M., Turner, F., Ramachandran, P., Minnier, J., …Guha, I. SteatoSITE: an Integrated Gene-to-Outcome Data Commons for Precision Medicine Research in NAFLD

Nonalcoholic fatty liver disease (NAFLD) is the commonest cause of chronic liver disease worldwide and a growing healthcare burden. The pathobiology of NAFLD is complex, disease progression is variable and unpredictable, and there are no qualified pr... Read More about SteatoSITE: an Integrated Gene-to-Outcome Data Commons for Precision Medicine Research in NAFLD.

Acai Berry (Euterpe sp.) Extracts Are Neuroprotective against L-Glutamate-Induced Toxicity by Limiting Mitochondrial Dysfunction and Cellular Redox Stress (2023)
Journal Article
ALNasser, M. N., AlSaadi, A. M., Whitby, A., Kim, D. H., Mellor, I. R., & Carter, W. G. (2023). Acai Berry (Euterpe sp.) Extracts Are Neuroprotective against L-Glutamate-Induced Toxicity by Limiting Mitochondrial Dysfunction and Cellular Redox Stress. Life, 13(4), Article 1019. https://doi.org/10.3390/life13041019

Aberrant accumulation of the neurotransmitter L-glutamate (L-Glu) has been implicated as a mechanism of neurodegeneration, and the release of L-Glu after stroke onset leads to a toxicity cascade that results in neuronal death. The acai berry (Euterpe... Read More about Acai Berry (Euterpe sp.) Extracts Are Neuroprotective against L-Glutamate-Induced Toxicity by Limiting Mitochondrial Dysfunction and Cellular Redox Stress.

Effects of sleep disturbance on dyspnoea and impaired lung function following hospital admission due to COVID-19 in the UK: a prospective multicentre cohort study (2023)
Journal Article
Jackson, C., Stewart, I. D., Plekhanova, T., Cunningham, P. S., Hazel, A. L., Al-Sheklly, B., …Blaikley, J. F. (2023). Effects of sleep disturbance on dyspnoea and impaired lung function following hospital admission due to COVID-19 in the UK: a prospective multicentre cohort study. Lancet Respiratory Medicine, 11(8), 673-684. https://doi.org/10.1016/S2213-2600%2823%2900124-8

Sleep disturbance is common following hospital admission both for COVID-19 and other causes. The clinical associations of this for recovery after hospital admission are poorly understood despite sleep disturbance contributing to morbidity in other sc... Read More about Effects of sleep disturbance on dyspnoea and impaired lung function following hospital admission due to COVID-19 in the UK: a prospective multicentre cohort study.

High Inner Centromere Protein Expression Correlates with Aggressive Features and Predicts Poor Prognosis in Patients with Invasive Breast Cancer (2023)
Journal Article
Ibrahim, A., Miligy, I. M., Toss, M. S., Green, A. R., & Rakha, E. A. (2023). High Inner Centromere Protein Expression Correlates with Aggressive Features and Predicts Poor Prognosis in Patients with Invasive Breast Cancer. Pathobiology, 90(6), 377–388. https://doi.org/10.1159/000529628

Introduction: Inner centromere protein (INCENP) is a member of the chromosomal passenger complex (CPC) and plays a key role in mitosis and cell proliferation. This study aims to evaluate the clinical and prognostic significance of INCENP in invasive... Read More about High Inner Centromere Protein Expression Correlates with Aggressive Features and Predicts Poor Prognosis in Patients with Invasive Breast Cancer.

The national prevalence of disorders of gut brain interaction in the United Kingdom in comparison to their worldwide prevalence: Results from the Rome foundation global epidemiology study (2023)
Journal Article
Jaafari, H., Houghton, L. A., West, R. M., Agrawal, A., Aziz, I., Black, C. J., …Vasant, D. H. (2023). The national prevalence of disorders of gut brain interaction in the United Kingdom in comparison to their worldwide prevalence: Results from the Rome foundation global epidemiology study. Neurogastroenterology and Motility, 35(6), Article e14574. https://doi.org/10.1111/nmo.14574

Background: There are minimal epidemiological data comparing the burden of disorders of gut brain interaction (DGBI) in the UK with other countries. We compared the prevalence of DGBI in the UK with other countries that participated in the Rome Found... Read More about The national prevalence of disorders of gut brain interaction in the United Kingdom in comparison to their worldwide prevalence: Results from the Rome foundation global epidemiology study.

A nationwide study of adults admitted to hospital with diabetic ketoacidosis or hyperosmolar hyperglycaemic state and COVID‐19 (2023)
Journal Article
Field, B. C. T., Ruan, Y., Várnai, K. A., Davies, J., Ryder, R. E. J., Gandhi, R., …Williams, D. (2023). A nationwide study of adults admitted to hospital with diabetic ketoacidosis or hyperosmolar hyperglycaemic state and COVID‐19. Diabetes, Obesity and Metabolism, 25(7), 2012-2022. https://doi.org/10.1111/dom.15076

Aims To investigate characteristics of people hospitalized with coronavirus-disease-2019 (COVID-19) and diabetic ketoacidosis (DKA) or hyperosmolar hyperglycaemic state (HHS), and to identify risk factors for mortality and intensive care admission... Read More about A nationwide study of adults admitted to hospital with diabetic ketoacidosis or hyperosmolar hyperglycaemic state and COVID‐19.

A molecular–mechanical link in shear-induced self-assembly of a functionalized biopolymeric fluid (2023)
Journal Article
Pavlovskaya, G. E., & Meersmann, T. (2023). A molecular–mechanical link in shear-induced self-assembly of a functionalized biopolymeric fluid. Soft Matter, 19(17), 3228-3237. https://doi.org/10.1039/d2sm01381a

23Na multiple quantum filtered (MQF) rheo-NMR methods were applied to probe the molecular foundation for flow induced self-assembly in 0.5% κ-carrageenan fluid. This method is sensitive enough to utilize an endogenous sodium ion concentration of appr... Read More about A molecular–mechanical link in shear-induced self-assembly of a functionalized biopolymeric fluid.

Classifying the unclassifiable—a Delphi study to reach consensus on the fibrotic nature of diseases (2023)
Journal Article
Massen, G. M., Allen, R. J., Leavy, O. C., Selby, N. M., Aithal, G. P., Oliver, N., …Quint, J. K. (2023). Classifying the unclassifiable—a Delphi study to reach consensus on the fibrotic nature of diseases. QJM: An International Journal of Medicine, 116(6), 429-435. https://doi.org/10.1093/qjmed/hcad050

BACKGROUND: Traditionally, clinical research has focused on individual fibrotic diseases or fibrosis in a particular organ. However, it is possible for people to have multiple fibrotic diseases. While multi-organ fibrosis may suggest shared pathogeni... Read More about Classifying the unclassifiable—a Delphi study to reach consensus on the fibrotic nature of diseases.

Machine learning algorithm improves the detection of NASH (NAS-based) and at-risk NASH: A development and validation study (2023)
Journal Article
Lee, J., Westphal, M., Vali, Y., Boursier, J., Ostroff, R., Alexander, L., …LITMUS investigators, L. I. (2023). Machine learning algorithm improves the detection of NASH (NAS-based) and at-risk NASH: A development and validation study. Hepatology, 78(1), 258-271. https://doi.org/10.1097/HEP.0000000000000364

Background and Aims: Detecting NASH remains challenging, while at-risk NASH (steatohepatitis and F≥ 2) tends to progress and is of interest for drug development and clinical application. We developed prediction models by supervised machine learning t... Read More about Machine learning algorithm improves the detection of NASH (NAS-based) and at-risk NASH: A development and validation study.

Unravelling the clinicopathological and functional significance of replication protein A (RPA) heterotrimeric complex in breast cancers (2023)
Journal Article
Algethami, M., Toss, M. S., Woodcock, C. L., Jaipal, C., Brownlie, J., Shoqafi, A., …Madhusudan, S. (2023). Unravelling the clinicopathological and functional significance of replication protein A (RPA) heterotrimeric complex in breast cancers. npj Breast Cancer, 9, Article 18. https://doi.org/10.1038/s41523-023-00524-3

Replication Protein A (RPA), a heterotrimeric complex consisting of RPA1, 2, and 3 subunits, is a single-stranded DNA (ssDNA)-binding protein that is critically involved in replication, checkpoint regulation and DNA repair. Here we have evaluated RPA... Read More about Unravelling the clinicopathological and functional significance of replication protein A (RPA) heterotrimeric complex in breast cancers.

Untargeted Metabolomic Characterization of Glioblastoma Intra-Tumor Heterogeneity Using OrbiSIMS (2023)
Journal Article
He, W., Edney, M. K., Paine, S. M. L., Griffiths, R. L., Scurr, D. J., Rahman, R., & Kim, D.-H. (2023). Untargeted Metabolomic Characterization of Glioblastoma Intra-Tumor Heterogeneity Using OrbiSIMS. Analytical Chemistry, 95(14), 5994-6001. https://doi.org/10.1021/acs.analchem.2c05807

Glioblastoma (GBM) is an incurable brain cancer with a median survival of less than two years from diagnosis. The standard treatment of GBM is multimodality therapy comprising surgical resection, radiation, and chemotherapy. However, prognosis remain... Read More about Untargeted Metabolomic Characterization of Glioblastoma Intra-Tumor Heterogeneity Using OrbiSIMS.

PRO-C3 is a predictor of clinical outcomes in distinct cohorts of patients with advanced liver disease (2023)
Journal Article
Nielsen, M. J., Dolman, G. E., Harris, R., Frederiksen, P., Chalmers, J., Grove, J. I., …Guha, I. N. (2023). PRO-C3 is a predictor of clinical outcomes in distinct cohorts of patients with advanced liver disease. JHEP Reports, 5(6), Article 100743. https://doi.org/10.1016/j.jhepr.2023.100743

Background & Aims: Fibroblast activity is a key feature of fibrosis progression and organ function loss, leading to liver-related complications and mortality. The fibrogenesis marker, PRO-C3, has been shown to have prognostic significance in relation... Read More about PRO-C3 is a predictor of clinical outcomes in distinct cohorts of patients with advanced liver disease.

Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature (2023)
Journal Article
Sievers, P., Sill, M., Schrimpf, D., Abdullaev, Z., Donson, A. M., Lake, J. A., …Jones, D. T. W. (in press). Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature. npj Precision Oncology, 7, Article 30. https://doi.org/10.1038/s41698-023-00372-1

Pediatric neoplasms in the central nervous system (CNS) show extensive clinical and molecular heterogeneity and are fundamentally different from those occurring in adults. Molecular genetic testing contributes to accurate diagnosis and enables an opt... Read More about Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.

Evaluating the efficacy and safety of single-agent etoposide intra-CSF chemotherapy in children and young people with relapsed/refractory central nervous system tumours (2023)
Journal Article
Butler, A., Meijer, L., Liu, J., Chohan, M., Jalloh, I., Macarthur, D., …Dandapani, M. (2023). Evaluating the efficacy and safety of single-agent etoposide intra-CSF chemotherapy in children and young people with relapsed/refractory central nervous system tumours. Child's Nervous System, 39, 1537-1544. https://doi.org/10.1007/s00381-023-05872-w

Purpose The aim of the project was to evaluate intra-CSF etoposide administration in a palliative setting for children and young people with relapsed/refractory central nervous system (CNS) tumours, with the primary endpoints being overall survival... Read More about Evaluating the efficacy and safety of single-agent etoposide intra-CSF chemotherapy in children and young people with relapsed/refractory central nervous system tumours.

Venetoclax ramp-up strategies for chronic lymphocytic leukaemia in the United Kingdom: a real world multicentre retrospective study (2023)
Journal Article
Figueroa‐Mora, R., Rampotas, A., Halperin, D., Worth, T., Vidler, J., Melotti, D., …Martinez‐Calle, N. (2023). Venetoclax ramp-up strategies for chronic lymphocytic leukaemia in the United Kingdom: a real world multicentre retrospective study. British Journal of Haematology, 202(1), 48-53. https://doi.org/10.1111/bjh.18738

This retrospective, observational study evaluated patterns of inpatient versus outpatient tumour lysis syndrome (TLS) monitoring during venetoclax ramp-up in 170 patients with chronic lymphocytic leukaemia. The primary outcome was clinical/biochemica... Read More about Venetoclax ramp-up strategies for chronic lymphocytic leukaemia in the United Kingdom: a real world multicentre retrospective study.