Specialist Services
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This community contains the research outputs from the Specialist Services division, which includes departments such as: Clinical Genetics, Microbiology, Nutrition & Dietetics, Obstetrics & Gynaecology and Paediatrics. You can browse the list of departments below:
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HLA-DQA1*05 carriage associated with development of anti-drug antibodies to infliximab and adalimumab in patients with Crohn's Disease
(Elsevier, 2020-01)Anti-tumor necrosis factor (anti-TNF) therapies are the most widely used biologic drugs for treating immune-mediated diseases, but repeated administration can induce the formation of anti-drug antibodies. The ability to ... -
Diagnostic genetic testing for monogenic diabetes and congenital hyperinsulinemia
(Springer, 2020-01)Monogenic diabetes and hyperinsulinism are genetically heterogeneous disorders. The determination of the genetic etiology defines the diagnostic subtype, predicts prognosis, and importantly can guide clinical management. ... -
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 ... -
Video vs direct laryngoscopy: success rates and confidence: a feasibility study
(Stansted News Limited, 2019-09)Video-assisted laryngoscopy (VL) is being used increasingly in adult, paediatric and neonatal populations although its use has not been extensively studied in a neonatal setting. The authors’ experiences on the neonatal ... -
The Exeter Knee Infection Multi Disciplinary Team approach to managing prosthetic knee infections: A qualitative analysis
(Elsevier, 2019-09)A Knee Infection Multi-Disciplinary Team meeting was established in Exeter. This study was designed to qualitatively evaluate the impact of the MDT on those involved. -
Development and validation of multivariable clinical diagnostic models to identify type 1 diabetes requiring rapid insulin therapy in adults aged 18-50 years
(BMJ, 2019-09)OBJECTIVE: To develop and validate multivariable clinical diagnostic models to assist distinguishing between type 1 and type 2 diabetes in adults aged 18-50. DESIGN: Multivariable logistic regression analysis was used ... -
Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC8 gene: response to appropriate therapy
(Wiley, 2019-09)AIMS: To examine the phenotypic features of people identified with ABCC8-maturity-onset diabetes of the young (MODY) who were included in the adult 'Mater MODY' cohort and to establish their response to sulfonylurea ... -
Evaluation of teamwork assessment tools for interprofessional simulation: a systematic literature review
(Taylor & Francis, 2019-09)There is growing evidence supporting the use of simulation-based education to improve teamwork in the clinical environment, which results in improved patient outcomes. Interprofessional simulation improves awareness of ... -
Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers
(Elsevier, 2019-12)Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. -
Axillary web syndrome induced by physical exertion
(Wiley, 2019-09) -
MNS1 variant associated with situs inversus and male infertility
(Nature, 2020-01)Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a ... -
Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5 year pediatric Swedish national cohort study
(American Diabetes Association, 2020-01)Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory ... -
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
(Nature, 2019-09)Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. ... -
HNF1B mutations are associated with a Gitelman-like tubulopathy that develops during childhood
(Elsevier, 2019-05)Mutations in the transcription factor hepatocyte nuclear factor 1B (HNF1B) are the most common inherited cause of renal malformations, yet also associated with renal tubular dysfunction, most prominently magnesium wasting ... -
Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: a prospective cohort study
(Elsevier, 2020-01)BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. -
The clinical role of VeriStrat testing in patients with advanced non-small cell lung cancer considered unfit for first-line platinum-based chemotherapy
(Elsevier, 2019-10)We previously demonstrated that the median survival of patients with poor prognosis non-small cell lung cancer (NSCLC) considered unfit for first-line platinum chemotherapy was <4 months. We evaluated whether VeriStrat ... -
Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes
(American Diabetes Association, 2019-02)Central nervous system (CNS) features in children with permanent neonatal diabetes (PNDM) due to KCNJ11 mutations have a major impact on affected families. Sulfonylurea therapy achieves outstanding metabolic control but ... -
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
(Oxford Academic, 2019-11)We report the case of a consanguineous couple who lost four pregnancies associated with skeletal dysplasia. Radiological examination of one fetus was inconclusive. Parental exome sequencing showed that both parents were ... -
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
(Nature, 2019-08-07)Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ...
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