Browsing Honorary contracts by Issue Date
Now showing items 41-60 of 597
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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ... -
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
(BMJ, 2014-03)Mutation specific effects in monogenic disorders are rare. We describe atypical Fanconi syndrome caused by a specific heterozygous mutation in HNF4A. Heterozygous HNF4A mutations cause a beta cell phenotype of neonatal ... -
Safety and feasibility of dobutamine stress cardiac magnetic resonance for cardiovascular assessment prior to renal transplantation.
(Wolters Kluwer, 2014-04)Current guidelines recommend cardiovascular risk assessment prior to renal transplantation. There is currently no evidence for the role of cardiovascular magnetic resonance (CMR) in this population, despite an established ... -
Insulin resistance is associated with lower acetylcholine-induced microvascular reactivity in nondiabetic women.
(Mary Ann Liebert, 2014-04)The association between insulin resistance and microvascular dysfunction is well established in obese individuals with type 2 diabetes. It is unclear whether this relationship is dependent on obesity and body fat in ... -
Clinical Relevance of Increased Endothelial and Mesothelial Expression of Proangiogenic Proteases and VEGFA in the Omentum of Patients with Metastatic Ovarian High-Grade Serous Carcinoma
(Wiley, 2014-04-01)Epithelial ovarian cancer (EOC) metastasis to the omentum requires implantation and angiogenesis. We propose that prometastatic changes in the omental endothelium (for angiogenesis) and mesothelium (for implantation) are ... -
Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care
(Clinical Medicine, 2014-04-01)Increasing technological advances have resulted in the recognition of a range of genetic conditions not traditionally seen by clinical genetics teams. This has implications for the education of other healthcare professionals ... -
Home urine C-peptide creatinine ratio can be used to monitor islet transplant function.
(American Diabetes Association, 2014-06)Islet graft function is defined by serum C-peptide in a standardized challenge test. We assessed whether urine C-peptide creatinine ratio (UCPCR) sent from home could provide a viable alternative. -
Interarm blood pressure difference in people with diabetes: measurement and vascular and mortality implications: a cohort study
(Diabetes Care, 2014-06-01)OBJECTIVE: Differences in blood pressure between arms are associated with vascular disease and increased mortality; this has not been reported in diabetes. We explored these associations, and assessed reference standard ... -
Epigenetics in health and disease: heralding the EWAS era
(Elsevier, 2014-06-07) -
Ethnic differences in microvascular function in apparently healthy South African men and women
(Wiley, 2014-07-01)Microvascular dysfunction precedes the clinical manifestations of cardiovascular disease. Given the ethnic disparities in cardiovascular disease, we aimed to investigate ethnic differences in microvascular endothelial ... -
GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
(American Diabetes Association, 2014-08)The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and Gata6 are required for pancreatic development. In humans, GATA6 ... -
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
(Nature, 2014-08)Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five ... -
Communicating with disabled children when inpatients: barriers and facilitators identified by parents and professionals in a qualitative study
(Wiley, 2014-08-24)BACKGROUND: Communication is a fundamental part of health care, but can be more difficult with disabled children. Disabled children are more frequently admitted to hospital than other children. AIMS: To explore experiences ... -
Dietary nitrate supplementation improves reaction time in type 2 diabetes: development and application of a novel nitrate-depleted beetroot juice placebo.
(Elsevier, 2014-08-31)In this substudy of the effect of dietary nitrate on blood pressure, endothelial function, and insulin sensitivity in type 2 diabetes, we report the development of a novel nitrate depleted beetroot juice for use clinical ... -
CD20+inflammatory T-cells are present in blood and brain of multiple sclerosis patients and can be selectively targeted for apoptotic elimination
(Elsevier, 2014-09-01)BACKGROUND: A subset of T-cells expresses the B-cell marker CD20 and in rheumatoid arthritis secretes Interleukin (IL)-17. IL-17 secreting T-cells (Th17) have also been implicated in the inflammatory response in the central ... -
HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants
(Nature, 2014-10-01)Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with ... -
Health outcomes for children with neurodisability: what do professionals regard as primary targets?
(BMJ, 2014-10-01)AIM: To identify what aspects of health clinicians target when working with children with neurodisability, and which might be appropriate to assess the performance of health services. METHOD: Health professionals were ... -
Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.
(Elsevier, 2014-11)Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic ... -
Impaired aerobic function in patients with cystic fibrosis during ramp exercise.
(Wolters Kluwer, 2014-12)This study aimed to document the matching of muscle O2 delivery to O2 use in young patients with cystic fibrosis (CF) from muscle deoxygenation (HHb) dynamics during ramp exercise. -
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
(European Society of Endocrinology, 2014-12)Congenital hyperinsulinism (CHI) has two main histological types: diffuse and focal. Heterozygous paternally inherited ABCC8/KCNJ11 mutations (depending upon whether recessive or dominant acting and occurrence of somatic ...