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Transcriptional analysis of adipose tissue during development reveals depot-specific responsiveness to maternal dietary supplementation (2018)
Journal Article
Fainberg, H. P., Birtwistle, M., Alagal, R., Alhaddad, A., Pope, M., Davies, G., …Symonds, M. E. (2018). Transcriptional analysis of adipose tissue during development reveals depot-specific responsiveness to maternal dietary supplementation. Scientific Reports, 8(1), 1-11. https://doi.org/10.1038/s41598-018-27376-3

Brown adipose tissue (BAT) undergoes pronounced changes after birth coincident with the loss of the BAT-specifc uncoupling protein (UCP)1 and rapid fat growth. The extent to which this adaptation may vary between anatomical locations remains unknown,... Read More about Transcriptional analysis of adipose tissue during development reveals depot-specific responsiveness to maternal dietary supplementation.

Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas (2018)
Journal Article
Pajtler, K. W., Wen, J., Sill, M., Lin, T., Orisme, W., Tang, B., …Ellison, D. W. (2018). Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas. Acta Neuropathologica, 136(2), 211-226. https://doi.org/10.1007/s00401-018-1877-0

Of nine ependymoma molecular groups detected by DNA methylation profiling, the posterior fossa type A (PFA) is most prevalent. We used DNA methylation profiling to look for further molecular heterogeneity among 675 PFA ependymomas. Two major subgroup... Read More about Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas.

Early life incidence of gastrointestinal and respiratory infections in children with gastroschisis: a cohort study (2018)
Journal Article
Bannister, J., Szatkowski, L., Sharkey, D., Tan, S., Fiaschi, L., & Ban, L. (2018). Early life incidence of gastrointestinal and respiratory infections in children with gastroschisis: a cohort study. Journal of Pediatric Gastroenterology and Nutrition, 67(5), 580–585. https://doi.org/10.1097/MPG.0000000000002045

Objectives: Survival in infants with gastroschisis is increasing although little is known about early childhood morbidity. In the context of a hypothesised link between the gastrointestinal (GI) tract and immune function, this study explores rates of... Read More about Early life incidence of gastrointestinal and respiratory infections in children with gastroschisis: a cohort study.

Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy (2018)
Journal Article
Healy, L., Moran, M., Singhal, S., O'Donoghue, M. F., Alzoubidi, R., & Whitehouse, W. P. (2018). Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy. Seizure - European Journal of Epilepsy, 59, https://doi.org/10.1016/j.seizure.2018.05.015

Purpose Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment. We therefore wanted to determine how many patients attending our epilepsy service with J... Read More about Relapse after treatment withdrawal of antiepileptic drugs for juvenile absence epilepsy and juvenile myoclonic epilepsy.

Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI (2018)
Journal Article
McGlashan, H. L., Dineen, R. A., Szeszak, S., Whitehouse, W. P., Chow, G., Love, A., …Wharrad, H. (2018). Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI. British Journal of Radiology, 91(1087), Article 20170719. https://doi.org/10.1259/bjr.20170719

Objectives: We evaluate the value of an internet-based educational animated video designed to prepare children for MRI scans, and whether this video reduces scan-related anxiety in children with a neurological disorder, and healthy controls. Meth... Read More about Evaluation of an internet-based animated preparatory video for children undergoing non-sedated MRI.

Origins of lifetime health around the time of conception: causes and consequences (2018)
Journal Article
Fleming, T., Watkins, A., Velazquez, M., Mathers, J., Prentice, A., Stephenson, J., …Keith, G. (2018). Origins of lifetime health around the time of conception: causes and consequences. Lancet, 391(10132),

Parental environmental factors, including diet, body composition, metabolism, and stress, affect the health and chronic disease risk of people throughout their lives, as captured in the Developmental Origins of Health and Disease concept. Research ac... Read More about Origins of lifetime health around the time of conception: causes and consequences.

Low temperature exposure induces browning of bone marrow stem cell derived adipocytes in vitro (2018)
Journal Article
Velickovic, K., Lugo-Leija, H. A., Bloor, I., Law, J., Sacks, H., Symonds, M. E., & Sottile, V. (2018). Low temperature exposure induces browning of bone marrow stem cell derived adipocytes in vitro. Scientific Reports, 8, Article 4974. https://doi.org/10.1038/s41598-018-23267-9

Brown and beige adipocytes are characterised as expressing the unique mitochondrial uncoupling protein (UCP)1 for which the primary stimulus in vivo is cold exposure. The extent to which cold-induced UCP1 activation can also be achieved in vitro, and... Read More about Low temperature exposure induces browning of bone marrow stem cell derived adipocytes in vitro.

Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population. (2018)
Journal Article
Pilotto, C., Liu, J., Walker, D. A., & Whitehouse, W. P. (2018). Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population. Seizure - European Journal of Epilepsy, 58, 17-21. https://doi.org/10.1016/j.seizure.2018.03.016

Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target (2018)
Journal Article
Apps, J. R., Carreno, G., Gonzalez-Meljem, J. M., Haston, S., Guiho, R., Cooper, J. E., …Martinez-Barbera, J. P. (2018). Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica, 135(5), 757-777. https://doi.org/10.1007/s00401-018-1830-2

Adamantinomatous craniopharyngiomas (ACPs) are clinically challenging tumours, the majority of which have activating mutations in CTNNB1. They are histologically complex, showing cystic and solid components, the latter comprised of different morpholo... Read More about Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.

Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics (2018)
Journal Article
Ritzmann, T. A., & Grundy, R. G. (2018). Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics. Paediatrics and Child Health, 28(4), https://doi.org/10.1016/j.paed.2018.01.006

Diagnosis and treatment of paediatric brain tumours has shown limited progress over the last half century. However, in the past 10 years the development of molecular techniques for investigating these tumours has expanded exponentially. The use of me... Read More about Translating childhood brain tumour research into clinical practice: the experience of molecular classification and diagnostics.

A HIF-independent, CD133-mediated mechanism of cisplatin resistance in glioblastoma cells (2018)
Journal Article
Ahmed, E. M., Bandopadhyay, G., Coyle, B., & Grabowska, A. M. (2018). A HIF-independent, CD133-mediated mechanism of cisplatin resistance in glioblastoma cells. Cellular Oncology, 41(3), https://doi.org/10.1007/s13402-018-0374-8

Purpose Glioblastoma Multiforme (GBM) is the commonest brain tumour in adults. A population of cells, known as cancer stem cells (CSCs), is thought to mediate chemo/radiotherapy resistance. CD133 is a cell surface marker to identify and isolate... Read More about A HIF-independent, CD133-mediated mechanism of cisplatin resistance in glioblastoma cells.

Delivery at term: when, how and why (2018)
Journal Article
Walker, K. F., & Thornton, J. (2018). Delivery at term: when, how and why. Clinics in Perinatology, 45(2), https://doi.org/10.1016/j.clp.2018.01.004

The optimal timing of delivery for the baby is 39 weeks, avoiding the morbidity associated with early term birth and reducing the risk of antepartum stillbirth. There is compelling evidence that among high-risk pregnancies and in settings where ce... Read More about Delivery at term: when, how and why.

Development of a pre-operative scoring system for predicting risk of post-operative paediatric cerebellar mutism syndrome (2018)
Journal Article
Liu, J., Dineen, R. A., Avula, S., Chambers, T., Dutta, M., Jaspan, T., …Walker, D. A. (in press). Development of a pre-operative scoring system for predicting risk of post-operative paediatric cerebellar mutism syndrome. British Journal of Neurosurgery, https://doi.org/10.1080/02688697.2018.1431204

BACKGROUND: Despite previous identification of pre-operative clinical and radiological predictors of post-operative paediatric cerebellar mutism syndrome (CMS), a unifying pre-operative risk stratification model for use during surgical consent is cur... Read More about Development of a pre-operative scoring system for predicting risk of post-operative paediatric cerebellar mutism syndrome.

Working with the patient and clinical community to deliver clinical research in cystic fibrosis: James Lind CF Phase II (2018)
Other
Smith, S., Rowbotham, N. J., & Smyth, A. R. (2018). Working with the patient and clinical community to deliver clinical research in cystic fibrosis: James Lind CF Phase II. London

This is a protocol which sets out the aims, objectives and commitments of the second phase of the James Lind Alliance Priority Setting Partnership in Cystic Fibrosis and the basic roles and responsibilities of the partners therein. The James Lind... Read More about Working with the patient and clinical community to deliver clinical research in cystic fibrosis: James Lind CF Phase II.

Safety of antiepileptic drugs in children and young people: a prospective cohort study (2018)
Journal Article
Egunsola, O., Choonara, I., Sammons, H. M., & Whitehouse, W. P. (2018). Safety of antiepileptic drugs in children and young people: a prospective cohort study. Seizure - European Journal of Epilepsy, 56, https://doi.org/10.1016/j.seizure.2018.01.018

Purpose: This study aims to describe the incidence of adverse drug reactions (ADRs) in children receiving antiepileptic drugs (AEDs) and compare ADRs to the individual drugs when given as monotherapy. Method: Paediatric patients (?18 years old) we... Read More about Safety of antiepileptic drugs in children and young people: a prospective cohort study.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy (2017)
Journal Article
McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E. V., …Kurian, M. A. (2018). Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology, 90(1), Article e1-e12. https://doi.org/10.1212/WNL.0000000000004762

Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. Methods: We identified a cohort of 31 patients with epilepsy of infancy with migrating... Read More about Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

The invasive region of glioblastoma defined by 5ALA guided surgery has an altered cancer stem cell marker profile compared to central tumour (2017)
Journal Article
Smith, S. J., Diksin, M., Chhaya, S., Sairam, S., Estevez-Cebrero, M. A., & Rahman, R. (2017). The invasive region of glioblastoma defined by 5ALA guided surgery has an altered cancer stem cell marker profile compared to central tumour. International Journal of Molecular Sciences, 18(11), https://doi.org/10.3390/ijms18112452

Glioblastoma, a WHO grade IV astrocytoma, is a highly aggressive and heterogeneous tumour that infiltrates deeply into surrounding brain parenchyma, making complete surgical resection impossible. Despite chemo-radiotherapy, the residual cell populati... Read More about The invasive region of glioblastoma defined by 5ALA guided surgery has an altered cancer stem cell marker profile compared to central tumour.

Genotoxic Damage Activates the AMPK-α1 Isoform in the Nucleus via Ca2þ/CaMKK2 Signaling to Enhance Tumor Cell Survival (2017)
Journal Article
Vara-Ciruelos, D., Dandapani, M., Gray, A., Egbani, E. O., Evans, A. M., & Hardie, D. G. (2018). Genotoxic Damage Activates the AMPK-α1 Isoform in the Nucleus via Ca2þ/CaMKK2 Signaling to Enhance Tumor Cell Survival. Molecular Cancer Research, 16(2), 345-357. https://doi.org/10.1158/1541-7786.mcr-17-0323

2017 American Association for Cancer Research. Many genotoxic cancer treatments activate AMP-activated protein kinase (AMPK), but the mechanisms of AMPK activation in response to DNA damage, and its downstream consequences, have been unclear. In this... Read More about Genotoxic Damage Activates the AMPK-α1 Isoform in the Nucleus via Ca2þ/CaMKK2 Signaling to Enhance Tumor Cell Survival.