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Now showing items 188-207 of 717
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Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability
(Springer, 2014-03-01)Familial cases of frontotemporal dementia (FTD) provide an opportunity to study the pathophysiology of this clinically diverse condition. The C9ORF72 mutation is the most common cause of familial FTD, recent pathological ... -
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 ... -
Economic Analysis of First-Line Treatment with Cetuximab or Panitumumab for RAS Wild-Type Metastatic Colorectal Cancer in England.
(Springer, 2018-03-01)Combination therapies with cetuximab (Erbitux®; Merck Serono UK Ltd) and panitumumab (Vectibix®; Amgen UK Ltd) are shown to be less effective in adults with metastatic colorectal cancer who have mutations in exons 2, 3 and ... -
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
(Wiley, 2020-08)We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was ... -
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 ... -
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
(Elsevier, 2015-08-01)BACKGROUND: Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. OBJECTIVE: To evaluate the response ... -
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
(Elsevier, 2015-09-05)Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes ... -
The effect of ivacaftor in adolescents with cystic fibrosis (G551D mutation): an exercise physiology perspective
(Wolters Kluwer, 2014-12-01)PURPOSE: The purpose of this report was to evaluate the influence of 12 weeks of ivacaftor treatment on the aerobic function of 2 teenage patients with cystic fibrosis (CF; DeltaF508/G551D) using a maximal cardiopulmonary ... -
Effect of perchlorate and thiocyanate exposure on thyroid function of pregnant women from South-West England: a cohort study
(BioMed Central, 2018-07-06) -
Effect of the holiday season in patients with diabetes: glycemia and lipids increase postholiday, but the effect is small and transient.
(American Diabetes Association, 2014) -
The effectiveness and cost-effectiveness of erythropoiesis-stimulating agents (epoetin and darbepoetin) for treating cancer treatment-induced anaemia (including review of technology appraisal no. 142): a systematic review and economic model.
(Health Technology Assessment, 2016-02)Anaemia is a common side effect of cancer treatments and can lead to a reduction in quality of life. Erythropoiesis-stimulating agents (ESAs) are licensed for use in conjunction with red blood cell transfusions to improve ... -
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
(Elsevier, 2018-06-04)KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic ... -
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study.
(Springer, 2014-11)To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe disease. -
Effectiveness of mealtime interventions on behavior symptoms of people with dementia living in care homes: a systematic review
(Elsevier, 2014-03-01)OBJECTIVE: Elderly residents with dementia commonly exhibit increased agitation at mealtimes. This interferes with eating and can be distressing for both the individual and fellow residents. This review examines the ... -
Effectiveness of the Healthy Lifestyles Programme (HeLP) to prevent obesity in UK primary-school children: a cluster randomised controlled trial.
(Elsevier, 2018-01)Although childhood overweight and obesity prevalence has increased substantially worldwide in the past three decades, scarce evidence exists for effective preventive strategies. We aimed to establish whether a school-based ... -
Effectiveness of voice therapy for functional voice disorders
(Compton Publishing, 2016) -
Effects of Exendin-4 on human adipose tissue inflammation and ECM remodelling
(Nature, 2016-12-12)Subjects with type-2 diabetes are typically obese with dysfunctional adipose tissue (AT). Glucagon-like peptide-1 (GLP-1) analogues are routinely used to improve glycaemia. Although, they also aid weight loss that improves ... -
Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia.
(De Gruyter, 2015-11-01)Hyperinsulinaemic hypoglycaemia (HH) is characterised by inappropriate insulin secretion and is the most common cause for persistent neonatal hypoglycaemia. The only treatment available for medically unresponsive hypoglycaemia ... -
Electronic prescribing system design priorities for antimicrobial stewardship: a cross-sectional survey of 142 UK infection specialists.
(Oxford Journals, 2016-12-20)The implementation of electronic prescribing and medication administration (EPMA) systems is a priority for hospitals and a potential component of antimicrobial stewardship (AMS). -
Electronic remote blood issue supports efficient and timely supply of blood and cost reduction: evidence from five hospitals at different stages of implementation
(Wiley, 2019-05)This multicenter international study evaluated electronic remote blood issue (ERBI) for blood unit collection in hospitals.