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Now showing items 343-362 of 649
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Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
(Endocrine Society, 2015-09)Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected ... -
Langerhans Cell Sarcoma: A Case Report Demonstrating Morphological and Immunophenotypical Variability within a Single Lesion.
(Hindawi, 2017-05)Langerhans cells are antigen presenting dendritic cells and tumours arising from these are rare. The tumours arising from these dendritic cells are divided into two categories according to a WHO classification: Langerhans ... -
Learning neonatal intubation with a video laryngoscope
(Infant, 2015-05)Although increasing used in adult and paediatric populations, the use of video laryngoscopy in a neonatal setting has not been extensively researched. This article describes a study showing that intubation of a manikin ... -
Lessons from surgery and anaesthesia: evaluation of non-technical skills in interventional radiology.
(Sage, 2015-11)In the medical profession, surgery and anaesthesia are leading the way in identifying human errors that negatively affect patient safety. Evidence suggests that the implementation of non-technical skills assessments reduces ... -
The link between surgical site infection and traffic flow in the operating theatre.
(Mark Allen Group, 2019-01-10) -
Lip dose challenges in food allergy: current practice and diagnostic utility in the United Kingdom
(Elsevier, 2019-05-10) -
Lipid metabolic pathways converge in motor neuron degenerative diseases
(Oxford Academic, 2020-04)Motor neuron diseases (MNDs) encompass an extensive and heterogeneous group of upper and/or lower motor neuron degenerative disorders, in which the particular clinical outcomes stem from the specific neuronal component ... -
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
(Karger, 2015-04)Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. -
Living with chronic illness: a transitional model of coping
(MAG Online Library, 2000-01) -
Lone Stent Graft Treatment of Symptomatic Gluteal Artery Aneurysm.
(Elsevier, 2016-05-26)We report the case of a large superior gluteal artery aneurysm treated with covered stent graft insertion. Exclusion of the aneurysm was achieved, with resolution of symptoms and shrinkage of the sac, without the need for ... -
Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study.
(Springer, 2014-11)To determine the effectiveness of enzyme replacement therapies (ERT) for adults with Gaucher disease (GD). -
Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study.
(Springer, 2014-11)To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD). -
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.
(Springer, 2014-11)To determine the effectiveness of enzyme replacement therapy (ERT) for adults and children with Fabry disease. -
Low IgE Is a Useful Tool to Identify STAT3 Gain-of-Function Mutations.
(American Association for Clinical Chemistry, 2016-11) -
Lower Circulating B12 Is Associated with Higher Obesity and Insulin Resistance during Pregnancy in a Non-Diabetic White British Population
(PLoS One, 2015-08-19)OBJECTIVE: Vitamin B12 and folate are critical micronutrients needed to support the increased metabolic demands of pregnancy. Recent studies from India have suggested that low vitamin B12 and folate concentrations in ... -
Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status
(Cancer Epidemiol Biomarkers Prev, 2014-06-01)BACKGROUND: Telomere length has been linked to risk of common diseases, including cancer, and has previously been proposed as a biomarker for cancer risk. Germline BRCA1 and BRCA2 mutations predispose to breast, ovarian, ... -
Lysyl oxidase and adipose tissue dysfunction
(Elsevier, 2017-10-17)Lysyl oxidase (LOX) is an enzyme crucial for collagen fibre crosslinking and thus for fibrosis development. Fibrosis is characterised by a surplus of collagen fibre accumulation and is amongst others also a feature of ... -
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
(Proceedings of the National Academy of Sciences of the USA, 2018-01-30)The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ... -
The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells.
(Springer, 2014-01)Classically, type 1 diabetes is thought to proceed to absolute insulin deficiency. Recently developed ultrasensitive assays capable of detecting C-peptide under 5 pmol/l now allow very low levels of C-peptide to be detected ...