The latest list of publications from the NIHR Cambridge Biomedical Research Centre with a brief summary. 

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Publication: Ultrasound in Obstetrics and Gynecology

F. Mone,  R. Y. Eberhardt, M. E. Hurles,  D. J. McMullan,  E. R. Maher,  J. Lord,  L. S. Chitty,  E. Dempsey,  T. Homfray,  J. L. Giordano,  R. J. Wapner,  L. Sun, T. N. Sparks,  M. E. Norton, M. D. Kilby

13 April 2021


Use of prenatal next generation sequencing in both isolated and non‐isolated NIHF should be considered in developing clinical pathways.

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Publication: JAMA Network

Lotta LA, Wittemans LBL, Zuber V, Stewart ID, Sharp SJ, Luan J, et al.

25 December 2018

The distribution of body fat is associated with the propensity of overweight individuals to manifest insulin resistance and its associated metabolic and cardiovascular complications.

The waist-to-hip ratio (WHR) is a widely used, convenient, and robustly validated indicator of fat distribution and is linked to the risk of type 2 diabetes and coronary disease independently of body mass index (BMI).

This observation has been used to infer that accumulation of fat in the abdominal cavity is an independent causal contributor to cardiometabolic disease. While many studies support this assertion and plausible mechanisms have been proposed, WHR can also be increased by a reduction in its denominator, the hip circumference.

Evidence from several different forms of partial lipodystrophy and functional studies of peripheral adipose storage compartments suggests that a primary inability to expand gluteofemoral or hip fat can also underpin subsequent cardiometabolic disease risk.

Emerging evidence from the analysis of common genetic variants associated with greater insulin resistance but lower levels of hip fat suggests that similar mechanisms may also be relevant to the general population.

In this study, large-scale human genetic data were used to investigate whether genetic variants related to body fat distribution via lower levels of gluteofemoral (hip) fat or via higher levels of abdominal (waist) fat are associated with type 2 diabetes or coronary disease risk.

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Publication: American Journal of Human Biology

Lee JC, Westgate K, Boit MK, Mwaniki DL, Kiplamai FK, Friis H, et al.

10 December 2018

Physical activity is beneficial for metabolic health but the extent to which this may differ by ethnicity is still unclear. Here, the objective was to characterize the association between physical activity energy expenditure (PAEE) and cardiometabolic risk among the Luo, Kamba, and Maasai ethnic groups of rural Kenya.

In a cross-sectional study of 1084 rural Kenyans, free-living PAEE was objectively measured using individually-calibrated heart rate and movement sensing. A clustered metabolic syndrome risk score (zMS) was developed by averaging the sex-specific z-scores of five risk components measuring central adiposity, blood pressure, lipid levels, glucose tolerance, and insulin resistance.

zMS was 0.08 (−0.09; −0.06) SD lower for every 10 kJ/kg/day difference in PAEE after adjustment for age and sex; this association was modified by ethnicity (interaction with PAEE P < 0.05).

When adjusted for adiposity, each 10 kJ/kg/day difference in PAEE was predicted to lower zMS by 0.04 (−0.05, −0.03) SD, without evidence of interaction by ethnicity. The Maasai were predicted to have higher cardiometabolic risk than the Kamba and Luo at every quintile of PAEE, with a strong dose-dependent decreasing trend among all ethnicities.

Free-living PAEE is strongly inversely associated with cardiometabolic risk in rural Kenyans. Differences between ethnic groups in this association were observed but were explained by differences in central adiposity. Therefore, targeted interventions to increase PAEE are more likely to be effective in subgroups with high central adiposity, such as Maasai with low levels of PAEE.

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Publication: International Journal of Behavioral Nutrition and Physical Activity

Hajna S, White T, Brage S, van Sluijs EMF, Westgate K, Jones AP, et al.

27 November 2018

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Publication: Public Health Nutrition

Dao MC, Subar AF, Warthon-Medina M, Cade JE, Burrows T, Golley RK, et al.

15 November 2018

A wide variety of methods are available to assess dietary intake, each one with different strengths and weaknesses. Researchers face multiple challenges when diet and nutrition need to be accurately assessed, particularly in the selection of the most appropriate dietary assessment method for their study. The goal of this collaborative work is to present a collection of available resources for dietary assessment implementation.

As a follow-up to the 9th International Conference on Diet and Physical Activity Methods held in 2015, developers of dietary assessment toolkits agreed to collaborate in the preparation of the present paper, which provides an overview of each toolkit.

The toolkits presented include: the Diet, Anthropometry and Physical Activity Measurement Toolkit (DAPA; UK); the National Cancer Institute’s (NCI) Dietary Assessment Primer (USA); the Nutritools website (UK); the Australasian Child and Adolescent Obesity Research Network (ACAORN) method selector (Australia); and the Danone Dietary Assessment Toolkit (DanoneDAT; France). An at-a-glance summary of features and comparison of the toolkits is provided.

The present review contains general background on dietary assessment, along with a summary of each of the included toolkits, a feature comparison table and direct links to each toolkit, all of which are freely available online.

This overview of dietary assessment toolkits provides comprehensive information to aid users in the selection and implementation of the most appropriate dietary assessment method, or combination of methods, with the goal of collecting the highest-quality dietary data possible.

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Publication: The Journal of Clinical Endocrinology & Metabolism

Zheng JS, Imamura F, Sharp SJ, van der Schouw YT, Sluijs I, Gundersen TE, et al.

9 November 2018

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Publication: Revista de Psiquiatría y Salud Mental

Alabaf S, Kirkpatrick B, Chen S, Cardinal RN, Fernández-Egea E

10 April 2021

Schizophrenia typically involves so-called “positive” or psychotic symptoms (symptoms that are present but are unwanted), but sometimes also so-called “negative” or deficit symptoms (aspects of normal behaviour that are absent).

In a group of 167 patients with schizophrenia and being treated with clozapine, those patients with “non-deficit” schizophrenia were more likely than those with “deficit” schizophrenia to have reported cannabis use by the time of their first-episode psychosis, or trauma (related to crime or abuse) prior to that first episode of psychosis.

Patients with “deficit” schizophrenia were more likely to have been born in summer months. The timing of stressors during brain development may influence the pattern of symptoms that emerge.

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Publication: Nutrients

Jenkins B, Aoun M, Feillet-Coudray C, Coudray C, Ronis M, Koulman A.

3 November 2018

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Publication: Current Gerontology and Geriatrics Research

Hartley P, Keevil VL, Westgate K, White T, Brage S, Romero-Ortuno R, et al. Curr Gerontol Geriatr Res.

18 October 2018

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Publication: Brain

Claire O’Callaghan, Frank H Hezemans, Rong Ye, Catarina Rua, P Simon Jones, Alexander G Murley, Negin Holland, Ralf Regenthal, Kamen A Tsvetanov, Noham Wolpe, Roger A Barker, Caroline H Williams-Gray, Trevor W Robbins, Luca Passamonti, James B Rowe

30 March 2021


Drugs that increase the brain’s noradrenaline can improve cognition in Parkinson’s disease. A challenge remains to identify those who will most benefit from noradrenergic drugs. We show that drug response depends on integrity of the locus coeruleus nucleus. This will inform clinical trial patient selection and treatment.

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Publication: NeuroImage: Clinical

Martina Bocchetta, Emily G. Todd, Georgia Peakman, David M. Cash, Rhian S. Convery, Lucy L.Russell, David L. Thomas, Juan Eugenio Iglesias, John C.van Swieten, Lize C. Jiskootf, Harro Seelaar, Barbara Borronig, Daniela Galimbertihi, Raquel Sanchez-Vallej, Robert Laforce Jr, Fermin Morenol, Matthis Synofzik, Caroline Graffno, Mario Masellis, Maria Carmela Tartaglia, James B.Rower, Rik Vandenberghes, Elizabeth, Finger, Fabrizio Tagliaviniu, Alexandrede Mendonçav, Isabel Santanaw, Chris R.Butlerx, Simon Ducharmey, Alexander Gerhardza,  AdrianDanek, JohannesLevina,  Markus Ottoac, Sandro Sorbiad, Isabelle Le Beraeafag, Florence Pasquierahaiaj, Jonathan D.Rohrera.

29 March 2021


Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups.

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Publication: Journal of Neurology, Neurosurgery and Psychiatry

Bernard P H Cho, Stefania Nannoni, Eric L Harshfield, Daniel Tozer, Stefan Gräf, Steven Bell, Hugh S Markus

12 March 2021

Researchers in Cambridge have discovered that people with a small change in a gene known as NOTCH3 could be at greater risk of having a stroke and developing vascular dementia.

Their research looked at the clinical records (medical notes) and genetic data of more than 200,000 healthy volunteers from the UK BioBank between 2006-10.

They found that around 1 in 450 carried a variant (a small difference) in the NOTCH3 gene, which provides instructions for making a protein essential for the maintenance of blood vessels, including those that supply blood to the brain.

The researchers then looked at how many people with and without changes in NOTCH3 had had a stroke, vascular dementia or other related conditions and discovered that variant carriers had more than a two-fold increase in the odds of stroke.

Vascular dementia was also more frequent in people who have the NOTCH3 variant. There was also an increased association with cerebral small vessel disease (SVD), which is a major cause of stroke and dementia.

This study shows that NOTCH3 variants are common in the general population and these variants are associated with increased risk of both stroke and vascular dementia, and with MRI markers of SVD. This demonstrates that genetic variation in the NOTCH3 gene accounts for a much greater proportion of stroke in the general population than previously thought.

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