Browsing Medical Services by Issue Date
Now showing items 1-20 of 1090
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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 ... -
A cost consequence study of the impact of a dermatology-trained practice nurse on the quality of life of primary care patients with eczema and psoriasis
(Royal College of General Practitioners, 2000-08-24)BACKGROUND: The practice nurse is central to the development of a primary care-led National Health Service. Skin diseases can have a major impact on patients' lives but general practitioners (GPs) lack many of the skills ... -
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, ... -
Home or surgery based screening for chronic obstructive pulmonary disease (COPD)?
(Nature Research, 2001-06-01)AIMS: To compare the effectiveness of opportunistic spirometric screening of patients attending a general practice surgery with screening on randomly selected home visits. METHOD: 100 patients aged 45+ attending the Honiton ... -
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 ... -
Improving foot care for people with diabetes mellitus--a randomized controlled trial of an integrated care approach
(Wiley, 2001-12-24)AIMS: To evaluate a model of integrated diabetic footcare, for identification and clinical management of the high risk diabetic foot, centred on the primary care-based diabetic annual review. METHODS: A pragmatic randomized ... -
A pragmatic randomised controlled trial of an asthma nurse in general practice
(Nature Research, 2002-03-01)AIM: To measure the impact of a nurse led asthma clinic on the quality of life of patients with asthma. DESIGN: A randomised controlled trial with delayed intervention in the control group. OUTCOMES: Primary outcome measure: ... -
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 ... -
Genetic Aetiology of Hyperglycaemia Alters Response to Treatment in Diabetes
(Portland Press, 2003-04-01) -
Diagnosis of type 2 diabetes in primary care
(SAGE Publications, 2003-09-01)Little is known about the impact of case-finding and protocol-driven screening at a practice level on the increasing prevalence of type 2 diabetes. This cross-sectional study investigated the diagnostic process in 154 ... -
Genetic cause of hyperglycaemia and response to treatment in diabetes
(Elsevier, 2003-10-18)BACKGROUND: Type 2 diabetes shows evidence of underlying heterogeneity. No studies have assessed whether different causes for diabetes change the response to oral hypoglycaemic therapy. In a few cases, patients with diabetes ... -
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 ... -
Determinants of insulin concentrations in healthy 1-week-old babies in the community: applications of a bloodspot assay
(Elsevier, 2005-10-13)BACKGROUND: Epidemiological research into insulin secretion and insulin action would be helped by improved ability to measure insulin concentrations in large groups of healthy babies in the neonatal period. Such research ... -
Paternal insulin resistance and its association with umbilical cord insulin concentrations
(Springer, 2006-05-17)AIMS/HYPOTHESIS: Fetal growth is influenced by genetic factors as well as the intra-uterine environment. We hypothesised that some genetic factors may alter fetal insulin secretion and insulin action. SUBJECTS, MATERIALS ... -
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 ...