• Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies 

  Beaumont, Robin N.; Wood, A. R.; Knight, Bridget A.; Hattersley, Andrew T.; Freathy, Rachel M. (Public Library of Science, 2020-12-07)

  Babies born clinically Small- or Large-for-Gestational-Age (SGA or LGA; sex- and gestational age-adjusted birth weight (BW) <10th or >90th percentile, respectively), are at higher risks of complications. SGA and LGA include ...

• Online Education and Cognitive Behavior Therapy Improve Dementia Caregivers' Mental Health: A Randomized Trial 

  Ballard, Clive (Elsevier Science, 2020-12-04)

  Objectives: To compare online cognitive-behavioral therapy (CBT) with and without telephone support respectively to online psychoeducation in a randomized controlled trial (RCT) in caregivers of people with dementia with ...

• Processes Underlying Glycemic Deterioration in Type 2 Diabetes: An IMI DIRECT Study 

  Jones, A. G.; Hattersley, Andrew T.; McDonald, Timothy J. (HighWire, 2021-02)

  Objective: We investigated the processes underlying glycemic deterioration in type 2 diabetes (T2D). Research design and methods: A total of 732 recently diagnosed patients with T2D from the Innovative Medicines Initiative ...

• Ventilation bundle compliance in two Australian intensive care units: An observational study 

  Endacott, Ruth (Elsevier Science, 2021-07)

  Background: The ventilation bundle has been used in adult intensive care units to decrease harm and improve quality of care for mechanically ventilated patients. The ventilation bundle focuses on prevention of specific ...

• Patient involvement in regulation: an unvalued imperative 

  Campbell, Bruce (Elsevier Science, 2021-06-05)

• Physician turned patient with varicose veins 

  Campbell, Bruce (Atypon, 2021-04-26)

• Patterns of Mitochondrial TSPO Binding in Cerebral Small Vessel Disease: An in vivo PET Study With Neuropathological Comparison 

  Ballard, Clive (Frontiers Media, 2020-10-16)

  Small vessel disease (SVD) is associated with cognitive impairment in older age and be implicated in vascular dementia. Post-mortem studies show proliferation of activated microglia in the affected white matter. However, ...

• Mild cognitive impairment: the Manchester consensus 

  Ballard, Clive (Silverchair, 2021-01-08)

  Given considerable variation in diagnostic and therapeutic practice, there is a need for national guidance on the use of neuroimaging, fluid biomarkers, cognitive testing, follow-up and diagnostic terminology in mild ...

• Is disrupted sleep a risk factor for Alzheimer's disease? Evidence from a two-sample Mendelian randomization analysis 

  Jones, S. E.; Beaumont, Robin N.; Tyrrell, Jessica; Frayling, Timothy M.; Wood, A. R.; Weedon, M. N. (Silverchair, 2020-11-05)

  Background: It is established that Alzheimer's disease (AD) patients experience sleep disruption. However, it remains unknown whether disruption in the quantity, quality or timing of sleep is a risk factor for the onset ...

• Increased isoform-specific phosphodiesterase 4D expression is associated with pathology and cognitive impairment in Alzheimer's disease 

  Roubroeks, J.; Lunnon, Katie (Elsevier Science, 2021-01)

  Pharmacological phosphodiesterase 4D (PDE4D) inhibition shows therapeutic potential to restore memory function in Alzheimer's disease (AD), but will likely evoke adverse side effects. As PDE4D encodes multiple isoforms, ...

• Next-Generation RNA-Sequencing of Serum Small Extracellular Vesicles Discovers Potential Diagnostic Biomarkers for Dementia With Lewy Bodies 

  Ballard, Clive (Elsevier Science, 2021-06)

  Objective: There is an urgent clinical need for identifying blood-based diagnostic biomarkers for Dementia with Lewy Bodies (DLB). Transcriptomic studies have reported unique RNA changes in postmortem DLB brains. Small ...

• YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress 

  De Franco, Elisa; Wakeling, M. N.; Ellard, Sian; Hattersley, Andrew T.; Patel, Kashyap; Laver, T. W.; Johnson, M. B.; Flanagan, Sarah (American Society for Clinical Investigation, 2020-12-01)

  Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in ...

• Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells 

  Frontini, Mattia (Nature Publishing Group, 2020-11-09)

  Both poly(A) enrichment and ribosomal RNA depletion are commonly used for RNA sequencing. Either has its advantages and disadvantages that may lead to biases in the downstream analyses. To better access these effects, we ...

• Isoform-specific upregulation of FynT kinase expression is associated with tauopathy and glial activation in Alzheimer's disease and Lewy body dementias 

  Ballard, Clive (Wiley, 2021-03)

  Cumulative data suggest the involvement of Fyn tyrosine kinase in Alzheimer's disease (AD). Previously, our group has shown increased immunoreactivities of the FynT isoform in AD neocortex (with no change in the alternatively ...

• Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics 

  Rickman, Olivia J.; Voutsina, Nikol; Baple, Emma L.; Crosby, Andrew H. (Elsevier Science, 2020-10-16)

  The raw datasets of oxysterol quantifications from whole cell and mitochondrial fractions of THP-1 monocytes and macrophages, neuronal-like SH-SH5Y cells and human peripheral blood mononuclear cells are presented. Oxysterols ...

• Effects of exenatide on microvascular reactivity in patients with type 2 diabetes and coronary artery disease: A randomized controlled study 

  Shore, Angela (Wiley, 2021-02)

  This article is available to RD&E staff via NHS OpenAthens. Click on the Publisher URL, and log in with NHS OpenAthens if prompted.

• Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia 

  Crosby, Andrew H.; Baple, Emma L. (Elsevier Science, 2020-11)

  Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic ...

• Correction to: The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study 

  Hattersley, Andrew T.; McDonald, Timothy J. (Springer, 2021-01)

  Unfortunately, 'Present address' was omitted from one of the addresses provided for Mark I. McCarthy (#26).

• No association between SCN9A and monogenic human epilepsy disorders 

  Fasham, James; Crosby, Andrew H.; Baple, Emma L. (Public Library of Science, 2020-11-20)

  Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family ...

• Telomere length and risk of idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease: a mendelian randomisation study 

  Duckworth, Anna; Gibbons, Michael A.; Beaumont, Robin N.; Wood, A. R.; Lunnon, Katie; Tyrrell, Jessica; Scotton, C. J. (Elsevier Science, 2021-03)

  Background: Idiopathic pulmonary fibrosis (IPF) is a fatal lung disease accounting for 1% of UK deaths. In the familial form of pulmonary fibrosis, causal genes have been identified in about 30% of cases, and a majority ...

View more