Browsing Honorary contracts by Issue Date
Now showing items 1-20 of 599
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A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
(Springer, 2000-02)Patients with glucokinase mutations are characterised by mild, persistent fasting hyperglycaemia, a small increment in glucose in response to an oral load and a dominant family history. These patients frequently present ... -
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
(Highwire, 2001-02)beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ... -
Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia.
(Elsevier, 2006-10)Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered "exceptional" and should not warrant special ... -
Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia.
(BioMed Central, 2007)UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and ... -
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.
(Wiley, 2009-04)Hepatocyte nuclear factor-1 alpha (HNF1A) gene mutations are the commonest cause of monogenic diabetes, but patients are often misdiagnosed as having Type 1 diabetes and started on insulin treatment. Patients with HNF1A ... -
Early oxygen uptake recovery following exercise testing in children with chronic chest diseases.
(Wiley, 2009-05)The value of exercise testing as an objective measure of disease severity in patients with chronic chest diseases (CCD) is becoming increasingly recognized. The aim of this study was to investigate changes in oxygen uptake ... -
Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide.
(Highwire, 2009-11)C-peptide measurement in blood or 24-h urine samples provides useful information regarding endogenous insulin secretion, but problems related to the rapid degradation of C-peptide in blood and difficulty of 24-h urine ... -
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.
(Wiley, 2010-02)To investigate all-cause and cardiovascular mortality in subjects with diabetes caused by a mutation in the hepatocyte nuclear factor 1alpha gene (HNF1A). -
A survey of exercise testing and training in UK cystic fibrosis clinics.
(Elsevier, 2010-09)Exercise testing is a valuable prognostic tool and exercise training has many health benefits in cystic fibrosis (CF). The objective of this study was to survey the provision of exercise testing and training in UK CF clinics. -
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
(Springer, 2010-12)Maturity-onset diabetes of the young is frequently misdiagnosed as type 1 or type 2 diabetes. A correct diagnosis of MODY is important for determining treatment, but can only be confirmed by molecular genetic testing. We ... -
Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes.
(Highwire, 2011-03)Stimulated serum C-peptide (sCP) during a mixed-meal tolerance test (MMTT) is the gold standard measure of endogenous insulin secretion, but practical issues limit its use. We assessed urine C-peptide creatinine ratio ... -
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes.
(Highwire, 2011-08)Maturity-onset diabetes of the young (MODY) as a result of mutations in hepatocyte nuclear factor 1-α (HNF1A) is often misdiagnosed as type 1 diabetes or type 2 diabetes. Recent work has shown that high-sensitivity C-reactive ... -
Urine C-peptide creatinine ratio is an alternative to stimulated serum C-peptide measurement in late-onset, insulin-treated diabetes.
(Wiley, 2011-09)Serum C-peptide measurement can assist clinical management of diabetes, but practicalities of collection limit widespread use. Urine C-peptide creatinine ratio may be a non-invasive practical alternative. The stability of ... -
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes.
(Wiley, 2011-09)Maturity-onset diabetes of the young is a monogenic form of familial, young-onset diabetes. It is rare (∼1% diabetes) and may be misdiagnosed as Type 1 diabetes and inappropriately treated with insulin. Type 1 diabetes is ... -
Exercise metabolism during moderate-intensity exercise in children with cystic fibrosis following heavy-intensity exercise.
(NRC Research Press, 2011-12)Muscle metabolism is increased following exercise in healthy individuals, affecting exercise metabolism during subsequent physical work. We hypothesized that following heavy-intensity exercise (HIE), disease factors in ... -
EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature.
(PLoS One, 2012)C-peptide and insulin measurements in blood provide useful information regarding endogenous insulin secretion. Conflicting evidence on sample stability and handling procedures continue to limit the widespread clinical use ... -
Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.
(BMJ, 2012)The authors report an adolescent who was found to have diabetes on routine blood testing. The initial diagnosis was type 2 diabetes because she was obese, did not have type 1 diabetes antibodies and both parents had diabetes. ... -
Assessment of endogenous insulin secretion in insulin treated diabetes predicts postprandial glucose and treatment response to prandial insulin.
(BioMed Central, 2012)In patients with both Type 1 and Type 2 diabetes endogenous insulin secretion falls with time which changes treatment requirements, however direct measurement of endogenous insulin secretion is rarely performed. We aimed ... -
Heterozygous ABCC8 mutations are a cause of MODY.
(Springer, 2012-01)The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations ... -
Validation of a single-sample urinary C-peptide creatinine ratio as a reproducible alternative to serum C-peptide in patients with Type 2 diabetes.
(Wiley, 2012-01)Serum C-peptide can be used in Type 2 diabetes as a measure of endogenous insulin secretion, but practicalities of collection limit its routine clinical use. Urine C-peptide creatinine ratio is a non-invasive alternative ...