Specialist Services: Recent submissions
Now showing items 1-20 of 635
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CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations
(Cell Press, 2019-12)Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary ... -
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
(Nature, 2019-11)Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by ... -
Misannotation of multiple-nucleotide variants risks misdiagnosis
(Wellcome, 2020-01)Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses. These variants, which should be treated as ... -
Outcome of weekly carboplatin-paclitaxel-based definitive chemoradiation in oesophageal cancer in patients not considered to be suitable for platinum-fluoropyrimidine-based treatment: a multicentre, retrospective review
(Elsevier, 2020-02)Although cisplatin-fluoropyrimidine-based definitive chemoradiotherapy (dCRT) is a standard of care for oesophageal cancer, toxicity is significant and limits its use in elderly and frail patients. Weekly carboplatin-pac ... -
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
(Wiley, 2019-10-29)We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. ... -
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 ...