Browsing by Title
Now showing items 1555-1574 of 3493
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'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing.
(Royal College of Physicians, 2016-09-02)Hepatocyte nuclear factor-1alpha (HNF-1alpha) maturity onset diabetes of the young (MODY) is the commonest cause of monogenic diabetes but is frequently misdiagnosed as type 1 diabetes. The availability of genetic testing ... -
I Have a Nail “Stuck” In My Hand
(Elsevier, 2007-02) -
I know how TB patients feel
(Royal College of Nursing, 2016-11-16) -
"I'm in a very good frame of mind": a qualitative exploration of the experience of standing frame use in people with progressive multiple sclerosis
(HighWire, 2020-10-28)Objectives: The study aim was to explore the experiences of people with progressive multiple sclerosis (MS) and their standing assistants during their participation in Standing Up in Multiple Sclerosis, a randomised ... -
'I've got a little list'-the scourge of a surgical junior. A quality improvement project to change the surgical patient list in a district general hospital
(BMJ, 2020-06)Background: Junior doctors at the Royal Devon and Exeter Hospital spend hours every day creating and updating patient lists for all surgical specialties on Microsoft Excel spreadsheets. This not only consumes time that ... -
Iatrogenic Cushing's syndrome from topical steroid use
(Unknown, 2022-04-01) -
Ibrutinib is a safe and effective therapy for systemic mantle cell lymphoma with central nervous system involvement - a multi-centre case series from the United Kingdom.
(Wiley, 2016-05-16)This article is currently freely available from the publisher's site (May 2016). Click on the 'Additional Link' above to access the full-text from the publisher's site. -
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.
(Wellcome, 2018-10)Evaluating, optimising and benchmarking of next generation sequencing (NGS) variant calling performance are essential requirements for clinical, commercial and academic NGS pipelines. Such assessments should be performed ... -
The IDEAL and the EQUATOR.
(Wiley, 2018-10) -
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
(Cell Press, 2022-07-07)GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for the neurotransmitter L-glutamate (Glu). AMPA ... -
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies
(Cell Press, 2022-09-01)Hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHIs) are currently under clinical development for treating anemia in chronic kidney disease (CKD), but it is important to monitor their cardiovascular safety. ... -
Identification and structure-activity relationships of 1-aryl-3-piperidin-4-yl-urea derivatives as CXCR3 receptor antagonists.
(Elsevier, 2007-02-01)The synthesis and biological evaluation of a series of 1-aryl-3-piperidin-4-yl-urea derivatives as small-molecule CXCR3 antagonists is described. SAR studies resulted in significant improvement of potency and physicochemical ... -
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
(Nature, 2017-05)To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified ... -
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.
(Elsevier, 2018-01)Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced ... -
Identification of cancer associated molecular changes in histologically benign vulval disease found in association with vulval squamous cell carcinoma using Fourier transform infrared spectroscopy
(Royal Society of Chemistry, 2016)This study evaluates the capability of Fourier transform infrared spectroscopy (FTIR-S) in the differentiation of molecular changes in vulval intraepithelial neoplasia (VIN) and lichen sclerosus (LS) found in association ... -
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease
(PloS, 2014-02-01)Autoimmune thyroid diseases (AITD) are common, affecting 2-5% of the general population. Individuals with positive thyroid peroxidase antibodies (TPOAbs) have an increased risk of autoimmune hypothyroidism (Hashimoto's ... -
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
(BioMed Central, 2018-02-20)L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, ... -
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
(Nature, 2017-10-23)Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative ... -
Identifying clinical criteria to predict Type 1 diabetes, as defined by absolute insulin deficiency: a systematic review protocol
(BMJ, 2012-12-28)INTRODUCTION: Management of a patient's diabetes is entirely dependent upon the type of diabetes they are deemed to have. Patients with Type 1 diabetes are insulin deficient so require multiple daily insulin injections, ...