Browsing 2021 RD&E publications by Title
Now showing items 1-20 of 53
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AIP variant causing familial prolactinoma
(Springer, 2021-02)Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are increasingly recognised as a cause of familial isolated pituitary adenoma. AIP-associated tumours are most commonly growth hormone ... -
British Gynaecological Cancer Society (BGCS) cervical cancer guidelines: Recommendations for practice
(Elsevier Science, 2021-01)Cervix cancer in many countries is declining and screening programmes and immunisation will reduce the incidence in the next few decades. This guideline attempts to cover management of invasive disease reflecting diagnosis ... -
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
(Nature Publishing Group, 2021-02)Purpose: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better ... -
Clinical profiles of post-load glucose subgroups and their association with glycaemic traits over time: An IMI-DIRECT study
(Wiley, 2021-02)Aim: To examine the hypothesis that, based on their glucose curves during a seven-point oral glucose tolerance test, people at elevated type 2 diabetes risk can be divided into subgroups with different clinical profiles ... -
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
(HighWire, 2021-05)Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ... -
Correction to: The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study
(Springer, 2021-01)Unfortunately, 'Present address' was omitted from one of the addresses provided for Mark I. McCarthy (#26). -
Effects of exenatide on microvascular reactivity in patients with type 2 diabetes and coronary artery disease: A randomized controlled study
(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. -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
(Oxford University Press, 2021-01-23)Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, ... -
Evaluating variants classified as pathogenic in ClinVar in the DDD Study
(Nature Publishing Group, 2021-03)Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may ... -
Evaluation of pregnancy outcomes in women with GCK-MODY
(Wiley, 2021-06)Aims: To determine the fetal and maternal outcomes in pregnant women with Glucokinase-Maturity onset diabetes of the young (GCK-MODY). Methods: We studied the obstetric and perinatal outcomes in 99 pregnancies of 34 ... -
From GOLD 0 to Pre-COPD
(Atypon, 2021-02-15) -
Genome-Wide Association Analysis of Pancreatic Beta-Cell Glucose Sensitivity
(Silverchair Information Systems, 2021-01-01)Context: Pancreatic beta-cell glucose sensitivity is the slope of the plasma glucose-insulin secretion relationship and is a key predictor of deteriorating glucose tolerance and development of type 2 diabetes. However, ... -
Global Initiative for the Diagnosis, Management, and Prevention of Chronic Obstructive Lung Disease. The 2020 GOLD Science Committee Report on COVID-19 and Chronic Obstructive Pulmonary Disease
(Atypon, 2021-01-01)The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has raised many questions about the management of patients with chronic obstructive pulmonary disease (COPD) and whether modifications of their ... -
Glucagon-like peptide-1 receptor agonists as neuroprotective agents for ischemic stroke: a systematic scoping review
(Atypon, 2021-01)Stroke mortality and morbidity is expected to rise. Despite considerable recent advances within acute ischemic stroke treatment, scope remains for development of widely applicable neuroprotective agents. Glucagon-like ... -
The Impact of NOD2 Genetic Variants on the Gut Mycobiota in Crohn's Disease Patients in Remission and in Individuals Without Gastrointestinal Inflammation
(Silverchair Information Systems, 2021-05-04)Background and aims: Historical and emerging data implicate fungi in Crohn's disease [CD] pathogenesis. However, a causal link between mycobiota, dysregulated immunity, and any impact of NOD2 variants remains elusive. This ... -
Improving Survival of Critical Care Patients With Coronavirus Disease 2019 in England: A National Cohort Study, March to June 2020
(Wolters Kluwer Health, Inc., 2021-02-01)Objectives: To measure temporal trends in survival over time in people with severe coronavirus disease 2019 requiring critical care (high dependency unit or ICU) management, and to assess whether temporal variation in ... -
Increased Induction Infliximab Clearance Predicts Early Antidrug Antibody Detection
(Wiley, 2021-02)Treatment of patients with biologics such as infliximab may trigger development of antidrug antibodies, which are associated with faster drug clearance, reduced treatment efficacy, and increased risk of infusion-related ... -
Increased isoform-specific phosphodiesterase 4D expression is associated with pathology and cognitive impairment in Alzheimer's disease
(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, ...