• 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 ...

• The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction 

  Kivuva, Emma (Nature Publishing Group, 2021-02)

  Purpose: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better ...

• Evidence for 28 genetic disorders discovered by combining healthcare and research data 

  Wright, Caroline F (Nature Publishing Group, 2020-10)

  De novo mutations in protein-coding genes are a well-established cause of developmental disorders1. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of ...

• PRIM1 deficiency causes a distinctive primordial dwarfism syndrome 

  Rankin, Julia (HighWire, 2020-11-01)

  DNA replication is fundamental for cell proliferation in all organisms. Nonetheless, components of the replisome have been implicated in human disease, and here we report PRIM1 encoding the catalytic subunit of DNA primase ...

• Clinical profiles of post-load glucose subgroups and their association with glycaemic traits over time: An IMI-DIRECT study 

  McDonald, Timothy J.; Perry, Mandy (Wiley, 2021-02)

  Aim: To examine the hypothesis that, based on their glucose curves during a seven-point oral glucose tolerance test, people at elevated type 2 diabetes risk can be divided into subgroups with different clinical profiles ...

• A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype 

  Ellard, Sian (Wolters Kluwer Health, Inc., 2020-04)

• Elderly Patients with Gynecological Cancer: Is the Management Individualized? 

  Gkegkes, Ioannis D. (Pensoft, 2020-09-30)

  The change in life expectancy affects the clinical presentation and the prognosis of elderly patients with gynecological cancer. The in-crease of life expectancy and increased numbers of elderly patients, the healthcare ...

• Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 

  Rankin, Julia (Oxford University Press, 2021-01-23)

  Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, ...

• Republished: Immune checkpoint inhibitor induced large vessel vasculitis 

  Sankey, Peter (HighWire, 2021-02)

• Understanding surgical antimicrobial prescribing behaviour in the hospital setting: a systematic review and meta-ethnography protocol 

  Parker, Hazel; Britten, Nicky; Mattick, K. (BioMed Central, 2020-10-10)

  Background: Surgical specialities use extensive amounts of antimicrobials, and misuse has been widely reported, making them a key target for antimicrobial stewardship initiatives. Interventions informed by, and tailored ...

• Interventions to improve the mental health of children and young people with long-term physical conditions: linked evidence syntheses 

  Moore, D. A.; Nunns, M.; Rogers, M.; Ford, T.; Garside, R.; Ukoumunne, O. C.; Anderson, R.; Dickens, C.; Logan, Stuart; Thompson Coon, J. (NIHR Journals Library, 2019-05)

  Background: Although mental health difficulties can severely complicate the lives of children and young people (CYP) with long-term physical conditions (LTCs), there is a lack of evidence about the effectiveness of ...

• Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial 

  Stephens, Peter (Elsevier Science, 2020-10)

  Background: Circulating tumour DNA (ctDNA) testing might provide a current assessment of the genomic profile of advanced cancer, without the need to repeat tumour biopsy. We aimed to assess the accuracy of ctDNA testing ...

View more