2015 RD&E publications
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A summary list of all RD&E research outputs published or issued in 2015.
Recent Submissions
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Pilot randomised controlled trial of protective socks against usual care to reduce skin tears in high risk people STOPCUTS": study protocol"
(BioMed Central, 2015-04-01)BACKGROUND: Skin tears are traumatic injuries occurring mostly on the extremities due to shearing and friction forces that separate the epidermis and the dermis from underlying tissues. They are common and occur mostly in ... -
Use of a pathway quality improvement care bundle to reduce mortality after emergency laparotomy.
(Wiley, 2015-01)Emergency laparotomies in the U.K., U.S.A. and Denmark are known to have a high risk of death, with accompanying evidence of suboptimal care. The emergency laparotomy pathway quality improvement care (ELPQuiC) bundle is ... -
Improving inhaler technique
(Mark Allen Group, 2015-01-02)Correct inhaler technique is essential for patients to get benefits from their therapy. The South West Respiratory Network formulated a project to develop and deliver an inhaler technique training programme for clinicians -
South West Respiratory Network inhaler training project
(Mark Allen Group, 2015-03-02)Correct inhaler technique is essential for patients to get benefits from their therapy. Evidence shows that up to 90% of patients do not take their inhaler properly. A number of factors are associated with an increased ... -
The Effect of Incidental Consolidation on Management and Outcomes in COPD Exacerbations: Data from the European COPD Audit.
(PLoS One, 2015-07-27)There is controversy regarding the significance of radiological consolidation in the context of COPD exacerbation (eCOPD). While some studies into eCOPD exclude these cases, consolidation is a common feature of eCOPD ... -
Challenges in reporting surgical site infections to the national surgical site infection surveillance and suggestions for improvement.
(Royal College of Surgeons, 2015-09)Mandatory orthopaedic surgical site infection (SSI) data in England are used as a benchmark to compare infection rates between participating hospitals. According to the national guidelines, trusts are required to submit ... -
All blood counts: a manual for blood conservation and patient blood management
(TFM Publishing, 2015) -
Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects.
(Elsevier, 2015-01)Congenital hyperinsulinism causes profound hypoglycemia, which may persist or resolve spontaneously. Among 13 children with congenital hyperinsulinism, elevated incretin hormone concentrations were detected in 2 with ... -
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. -
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
(Karger, 2015)Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal ... -
Three cases of Wolfram syndrome with different clinical aspects.
(De Gruyter, 2015-03)Wolfram syndrome is an autosomal recessive disorder caused by mutations in the WFS1 gene. Clinical heterogeneity has been reported both within and between families with WFS1 mutations. -
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. -
Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.
(De Gruyter, 2015-05)Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in neonates. The treatment of severe diazoxide unresponsive HH involves near total pancreatectomy. Mammalian target of ... -
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
(Galenos, 2015-06)Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and ... -
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
(Elsevier, 2015-08)The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis ... -
Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
(BioMed Central, 2015)Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, ... -
Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.
(De Gruyter, 2015-09)Hyperinsulinaemic hypoglycaemia (HH) is caused by mutations in the key genes involved in regulation of insulin secretion from the pancreatic β-cells and mutations in ABCC8 and KCNJ11 are the most common causes of HH. ... -
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 ... -
Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!
(Springer, 2015-09) -
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 ...
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