• Adolescent with abdominal pain poorly responsive to analgesia 

  Chanchlani, Neil; Hart, James W.; McMillan, Christine; Moudiotis, Christopher (HighWire, 2020-12-16)

  Case presentation A 14-year-old boy, with autism spectrum disorder, presented with a 1-day history of colicky abdominal pain, non-bilious vomiting, anorexia and loose normal-coloured stool. Two days previously, he had a ...

• Outcomes in Patients with Muscle-invasive Bladder Cancer Treated with Neoadjuvant Chemotherapy Followed by (Chemo)radiotherapy in the BC2001 Trial 

  Crundwell, Malcolm (Elsevier Science, 2021-02)

  Background: BC2001 demonstrated improved local control with the addition of chemotherapy to radiotherapy in 360 patients with muscle-invasive bladder cancer. Objective: To establish whether such benefit remained in ...

• Evaluation of pregnancy outcomes in women with GCK-MODY 

  Colclough, Kevin (Wiley, 2021-06)

  Aims: To determine the fetal and maternal outcomes in pregnant women with Glucokinase-Maturity onset diabetes of the young (GCK-MODY). Methods: We studied the obstetric and perinatal outcomes in 99 pregnancies of 34 ...

• Managing nonspecific abdominal pain in children and young people 

  Chanchlani, Neil (HighWire, 2020-11-30)

• The feasibility of online video calling to engage patients with cystic fibrosis in exercise training 

  Tomlinson, O. W.; Shelley, James; Trott, Jayne; Bowhay, Ben; Chauhan, Rohan; Sheldon, Christopher David (Atypon, 2020-07)

  Introduction: Physical activity, including structured exercise, is an essential component in the management of cystic fibrosis. The use of telehealth such as video-calling may be a useful method for the delivery of exercise ...

• Evaluating variants classified as pathogenic in ClinVar in the DDD Study 

  Wright, Caroline F (Nature Publishing Group, 2021-03)

  Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may ...

• Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations 

  Ellard, Sian (HighWire, 2021-05)

  Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ...

• Validating the positivity thresholds of drug-tolerant anti-infliximab and anti-adalimumab antibody assays 

  Nice, Rachel; Chanchlani, Neil; Bewshea, Claire; Ahmad, Tariq; Goodhand, James R.; McDonald, Timothy J.; Perry, Mandy; Kennedy, Nicholas A. (Wiley, 2021-01)

  Background: When used proactively, drug-tolerant anti-tumour necrosis factor (TNF) antibody assays provide early opportunity to suppress immunogenicity. Aim: To validate positivity thresholds of IDKmonitor drug-tolerant ...

• KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 

  Rankin, Julia; Baple, Emma L. (Oxford University Press, 2020-12-05)

  Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving ...

• Neoadjuvant chemotherapy plus radical cystectomy versus radical cystectomy alone in clinical T2 bladder cancer without hydronephrosis 

  McGrath, John S (Wiley, 2020-11-05)

  Objectives: To assess the efficacy of neoadjuvant chemotherapy (NAC) before radical cystectomy (RC) in a retrospective multicentre cohort of patients with cT2N0M0 bladder cancer (BCa) without preoperative hydronephrosis. ...

• No association between SCN9A and monogenic human epilepsy disorders 

  Fasham, James; Crosby, Andrew H.; Baple, Emma L. (Public Library of Science, 2020-11-20)

  Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family ...

• British Gynaecological Cancer Society (BGCS) cervical cancer guidelines: Recommendations for practice 

  Forrest, Jenny (Elsevier Science, 2021-01)

  Cervix cancer in many countries is declining and screening programmes and immunisation will reduce the incidence in the next few decades. This guideline attempts to cover management of invasive disease reflecting diagnosis ...

• BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms 

  Ellard, Sian; Stals, Karen (Elsevier Science, 2020-12-03)

  SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by ...

• Management and care of patients with vulval conditions 

  Cleverdon, Maria (The British Dermatological Nursing Group, 2020-09)

• Fifteen-minute consultation: Vulval soreness in the prepubertal girl 

  Chanchlani, Neil (HighWire, 2020-11-27)

• Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes 

  Bowman, Pamela; Shepherd, Maggie; Babiker, Tarig; Thomas, N. J.; De Franco, Elisa; Ellard, Sian; Flanagan, Sarah; Hattersley, Andrew T. (HighWire, 2021-01)

  Objective: ABCC8 mutations cause neonatal diabetes mellitus that can be transient (TNDM) or, less commonly, permanent (PNDM); ∼90% of individuals can be treated with oral sulfonylureas instead of insulin. Previous studies ...

• Root-cause analyses of missed opportunities for the diagnosis of colorectal cancer in patients with inflammatory bowel disease 

  Chee, Desmond; Hamilton, Benjamin; Heerasing, Neel; Hendy, Peter; Chanchlani, Neil; Lin, Simeng; Daniels, Ian R.; Silva, N.; Osborne, Melanie; Kennedy, Nicholas A.; Goodhand, James R.; Ahmad, Tariq (Wiley, 2021-01)

  Background: Colonoscopic surveillance in patients with inflammatory bowel disease (IBD) leads to earlier detection of colorectal cancer (CRC) and reduces CRC-associated mortality. However, it is limited by poor adherence ...

• Comparison of oral glucose tolerance test and ambulatory glycaemic profiles in pregnant women in Uganda with gestational diabetes using the FreeStyle Libre flash glucose monitoring system 

  Jones, A. G. (BioMed Central, 2020-10-19)

  Background: The diagnosis of hyperglycaemia in sub-Saharan Africa (SSA) is challenging. Blood glucose levels obtained during oral glucose tolerance test (OGTT) may not reflect home glycaemic profiles. We compare OGTT results ...

• Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism 

  Mill, Jonathan (Nature Publishing Group, 2020-09-25)

  Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown patterns of molecular convergence in post-mortem brain ...

• Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort 

  Freathy, Rachel M. (Nature Publishing Group, 2020-10-26)

  There is a robust observational relationship between lower birthweight and higher risk of cardiometabolic disease in later life. The Developmental Origins of Health and Disease (DOHaD) hypothesis posits that adverse ...

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