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Now showing items 684-703 of 717
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UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
(BMJ, 2020-06-22)Constitutional pathogenic variants in TP53 are associated with Li-Fraumeni syndrome or the more recently described heritable TP53-related cancer syndrome and are associated with increased lifetime risks of a wide spectrum ... -
Understanding influences on teachers? uptake and use of behaviour management strategies within the STARS trial: process evaluation protocol for a randomised controlled trial
(BioMed Central, 2015-02-10)The ?Supporting Teachers And childRen in Schools? (STARS) study is a cluster randomised controlled trial evaluating the Incredible Years Teacher Classroom Management (TCM) programme as a public health intervention. TCM is ... -
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism
(Wiley, 2019-10-02)Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life-threatening hypoglycaemia if not effectively managed. CHI can be sub-classified into three distinct groups: diffuse, focal and ... -
An unusual case of an ACTH-secreting macroadenoma with a germline variant in the aryl hydrocarbon receptor-interacting protein (AIP) gene
(Endocrinol Diabetes Metab Case Reports, 2015-01-01)A patient of Cushing's disease (CD) characterized by a large tumor and only subtle symptoms of hormonal hypersecretion was examined. The patient had a germline variant in the aryl hydrocarbon receptor-interacting protein ... -
An Unusual Case of Primary Extranodal Lymphoma of the Gallbladder.
(Hematology Reports, 2017-02-23)Primary gallbladder lymphoma is an extremely rare disease. We report a case of a 63 year-old woman who has been admitted with gradual onset abdominal pain in the upper right quadrant and in the suprapubic region, nausea ... -
Unusual solid mass in the popliteal fossa.
(BMJ, 2013-05-08)We present a clinical case image of a 20-year-old man with a lump behind his knee. A radiograph taken in the emergency department demonstrated the classical appearance of an osteochondroma. Osteochondroma is the commonest ... -
Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
(Wiley, 2020-05)The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β-cell ATP-sensitive potassium channel, a key component of the ... -
Urine C-peptide creatinine ratio can be used to assess insulin resistance and insulin production in people without diabetes: an observational study.
(BMJ, 2013-12-18)The current assessment of insulin resistance (IR) in epidemiology studies relies on the blood measurement of C-peptide or insulin. A urine C-peptide creatinine ratio (UCPCR) can be posted from home unaided. It is validated ... -
The use of faecal microbiota transplant as treatment for recurrent or refractory Clostridium difficile infection and other potential indications: joint British Society of Gastroenterology (BSG) and Healthcare Infection Society (HIS) guidelines.
(BMJ, 2018-08-28)Interest in the therapeutic potential of faecal microbiota transplant (FMT) has been increasing globally in recent years, particularly as a result of randomised studies in which it has been used as an intervention. The ... -
Using a change model to reduce the risk of surgical site infection.
(Mark Allen Group, 2016-09-22)A surgical site infection (SSI) surveillance module completed in 2014 highlighted that infection rates for breast surgery inpatients and readmissions at an acute trust had increased to 2.2%, from 0.5% in 2012. The national ... -
Using narratives in nursing practice
(Multiple Sclerosis Trust, 2014-04) -
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
(Public Library of Science, 2020-02-06)ongenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are ... -
Using structural analysis In Silico to assess the impact of missense variants in MEN1
(Endocrine Society, 2019-09-27)Despite the rapid expansion in recent years of databases reporting either benign or pathogenic genetic variations, the interpretation of novel missense variants remains challenging, particularly for clinical or genetic ... -
Uterine Inflammatory Myofibroblastic Tumors Frequently Harbor ALK Fusions With IGFBP5 and THBS1.
(Wolters Kluwer, 2017-06)Inflammatory myofibroblastic tumor (IMT) can occur in a number of anatomic sites, including the uterus. Like its soft tissue counterpart, uterine IMT frequently expresses ALK and harbors ALK genetic rearrangements. The aim ... -
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
(Wiley, 2018-10-29)Patients with hyperthyroidism lacking autoimmune features but showing diffuse uptake on thyroid scintigram can have either Graves' disease or germline activating TSHR mutation. It is important to identify patients with ... -
The Value of Coenzyme Q10 Determination in Mitochondrial Patients.
(MDPI, 2017-03-24)Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may ... -
The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation.
(Wiley, 2015-10)In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second ... -
Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight
(The Royal Society Publishing, 2019-04-15)There is great interest in the role epigenetic variation induced by non-genetic exposures may play in the context of health and disease. In particular, DNA methylation has previously been shown to be highly dynamic during ...