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Now showing items 21-40 of 717
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Afatinib use in non-small cell lung cancer previously sensitive to epidermal growth factor receptor inhibitors: the United Kingdom Named Patient Programme
(Elsevier, 2014-07-01)INTRODUCTION: Afatinib prolongs progression-free survival (PFS) in patients with non-small cell lung cancer (NSCLC) who were previously sensitive to erlotinib or gefitinib. This study investigated experience of afatinib ... -
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.
(Springer, 2016-03-31)Although aryl hydrocarbon receptor-interacting protein (AIP) mutations are rare in sporadic acromegaly, their prevalence among young patients is nonnegligible. The objectives of this study were to evaluate the frequency ... -
Airflow limitation following cardiopulmonary exercise testing and heavy-intensity intermittent exercise in children with cystic fibrosis.
(Springer, 2015-02)The clinical importance of exercise testing and training in the healthcare management of young patients with cystic fibrosis (CF) is growing. The aim of the present study was to determine the incidence of airflow limitation ... -
Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers: results from the BRCA1 and BRCA2 Cohort Consortium
(American Association for Cancer Research, 2020-02)Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 ... -
ALK is a Specific Diagnostic Marker for Inflammatory Myofibroblastic Tumor of the Uterus.
(Wolters Kluwer, 2018-07-13)Inflammatory myofibroblastic tumor (IMT) is a myofibroblastic/fibroblastic neoplasm of intermediate malignant potential. It is frequently characterized by genetic fusion of ALK with a variety of partner genes, which results ... -
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
(De Gruyter, 2015-03)Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes. -
An alternative sensor-based method for glucose monitoring in children and young people with diabetes.
(BMJ, 2017-01-30)To determine accuracy, safety and acceptability of the FreeStyle Libre Flash Glucose Monitoring System in the paediatric population. -
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia
(Nature, 2019-04)The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in human embryonic growth and development is yet to be fully defined. ... -
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos Syndrome
(Wiley, 2020-03)Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. ... -
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
(Nature, 2019-07)AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ... -
Amplatzer Vascular Plug 4 Insertion for the Treatment of a Left Subclavian Artery Pseudoaneurysm.
(Elsevier, 2017-05-04)We report the case of a 74-year-old male with an incidental finding of a pseudoaneurysm at the base of his neck arising from the left subclavian artery. Initial treatment with ultrasound-guided thrombin injection was ... -
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.
(Wiley, 2017-04)An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate ... -
Analysis of oxygen uptake efficiency parameters in young people with cystic fibrosis.
(Springer, 2018-07-12)This study characterised oxygen uptake efficiency (OUE) in children with mild-to-moderate cystic fibrosis (CF). Specifically, it investigated (1) the utility of OUE parameters as potential submaximal surrogates of peak ... -
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
(Cell Press, 2014-01-07)Understanding transcriptional regulation of pancreatic development is required to advance current efforts in developing beta cell replacement therapies for patients with diabetes. Current knowledge of key transcriptional ... -
Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!
(Springer, 2015-09) -
Are children with unrecognised psychiatric disorders being excluded from school? A secondary analysis of the British Child and Adolescent Mental Health Surveys 2004 and 2007
(Cambridge University Press, 2019-11)Background: There is limited research that explores the association between exclusion from school and mental health, but it seems intuitively plausible that the recognition of mental difficulties by key teachers and parents ... -
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 ... -
Artificial intelligence in fracture detection: transfer learning from deep convolutional neural networks.
(Elsevier, 2017-12-18)To identify the extent to which transfer learning from deep convolutional neural networks (CNNs), pre-trained on non-medical images, can be used for automated fracture detection on plain radiographs. -
Artificial intelligence in the diagnosis of Parkinson's disease from ioflupane-123 single-photon emission computed tomography dopamine transporter scans using transfer learning.
(Wolters Kluwer, 2018-10)The objective of this study was to identify the extent to which artificial intelligence could be used in the diagnosis of Parkinson's disease from ioflupane-123 (¹²³I) single-photon emission computed tomography (SPECT) ...