Browsing Medical Services by Issue Date
Now showing items 1-20 of 638
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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 ... -
Predictive genetic testing in diabetes: a case study of multiple perspectives.
(Sage, 2000-03)Genetic testing is now possible in maturity onset diabetes of the young (MODY), an unusual genetic subtype of diabetes. To date, there has been no research into the implications of genetic testing for MODY families. The ... -
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, ... -
Treatment demands and differential treatment of patients with cystic fibrosis and their siblings: patient, parent and sibling accounts.
(Wiley, 2001-07)Cystic fibrosis (CF) is a progressive disease with no known cure. Advances in diagnosis and treatment have resulted in patients living longer and thus families live with the illness for longer. Treatments are becoming ... -
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
(Highwire, 2002-07)Monogenic human disorders have been used as paradigms for complex genetic disease and as tools for establishing important insights into mechanisms of gene regulation and transcriptional control. Maturity-onset diabetes of ... -
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.
(Wiley, 2002-09)To describe the characteristics of hepatocyte nuclear factor (HNF) 1 alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age. -
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
(Springer, 2002-10)Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent ... -
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
(Highwire, 2002-12)In animals, experimentally induced maternal hyperglycemia during pregnancy results in hyperglycemic offspring. Similarly, Pima Indian offspring with mothers who are diabetic at the time of pregnancy have increased risk of ... -
Infusion of routinely stored blood may limit reperfusion injury to acutely ischemic myocardial cells.
(Elsevier, 2005)Emergency thrombolysis and restoration of blood supply to acutely ischemic myocardium kills many reversibly injured muscle cells by free radicals generation and calcium influx. Such reversibly injured cells form the major ... -
Coma due to cannabis toxicity in an infant.
(Wolters Kluwer, 2006-06)In young children, cannabis ingestion resulting in coma is very rare. Only nine cases have been reported in the literature and most have occurred in inquisitive toddlers. We review the cases to date and report the youngest ... -
Defining the genetic aetiology of monogenic diabetes can improve treatment.
(Taylor & Francis, 2006-09)A molecular genetic diagnosis is now possible for > 80% of patients with monogenic diabetes. This not only provides accurate information regarding inheritance and prognosis, but can inform treatment decisions and improve ... -
Fungal septicaemia in patients with cystic fibrosis associated with totally implantable venous access device system.
(Elsevier, 2007-09)Fungal septicaemia is a serious and potentially fatal condition. We report 4 cases in patients with Cystic Fibrosis (CF) associated with totally implantable venous access device system (TIVADS). -
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
(Springer, 2007-11)Heterozygous mutations of glucokinase (GCK) and hepatocyte nuclear factor-1 alpha (HNF1A; also known as hepatic transcription factor 1 [TCF1]) genes are the most common cause of MODY. Genomic deletions of the HNF1B (also ... -
The impact of thyroid eye disease upon patients' wellbeing: a qualitative analysis.
(Wiley, 2008-04)Previous studies using quality of life (QoL) questionnaires have shown poor QoL in patients with thyroid eye disease (TED). However, predetermined questionnaires limit in-depth investigation of psychosocial and emotional ... -
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.
(Wiley, 2009-01)To assess determinants of fetal growth in the offspring of pregnant women with hyperglycaemia due to a heterozygous glucokinase (GCK) gene mutation. -
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 ... -
The patient experience of services for thyroid eye disease in the United Kingdom: results of a nationwide survey.
(BioScientifica, 2009-09)A recent consensus statement from the European Group on Graves' Orbitopathy recommends referring all patients with thyroid eye disease (TED), except the mildest cases, to a specialist multidisciplinary clinic. -
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). -
Stopping insulin injections following genetic testing in diabetes: impact on identity.
(Wiley, 2010-07)Identification of genes causing monogenic diabetes has led to treatment change, from insulin to sulphonylureas for many previously considered insulin dependent. Changing treatment has led to improved glycaemic control and ...