• Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant 

  Tysoe, Carolyn; Caswell, Richard (Elsevier Science, 2020-10)

  Purpose: To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. Design: Retrospective observational case series. Methods: Clinical evaluation, multimodal ...

• Primary care faecal calprotectin testing in children with suspected inflammatory bowel disease: a diagnostic accuracy study 

  Walker, Gareth; Chanchlani, Neil; Thomas, Amanda; Lin, Simeng; Moore, Lucy; Heerasing, Neel; Hendy, Peter; Abdelrahim, Mohamad; Mole, Sean; Perry, Mandy; McDonald, Timothy J.; Bewshea, Claire M.; Hart, James W.; Ahmad, Tariq; Goodhand, James R.; Kennedy, Nicholas A. (BMJ, 2020-10)

  Objective: To determine the diagnostic accuracy of calprotectin to diagnose inflammatory bowel disease (IBD) in children in whom general practitioners (GPs) suspected IBD. Design: Prospective observational cohort study ...

• Immune checkpoint inhibitor induced large vessel vasculitis 

  Sankey, Peter (BMJ, 2020-05-18)

  This is a case report of a 67-year-old patient with castration resistant metastatic prostate cancer who developed an immune-mediated large vessel vasculitis following treatment with ipilimumab (anti-CTLA-4) and nivolumab ...

• Reduced Fractionation in Lung Cancer Patients Treated with Curative-intent Radiotherapy during the COVID-19 Pandemic 

  Toy, Elizabeth (Elsevier Science, 2020-08)

  Patients treated with curative-intent lung radiotherapy are in the group at highest risk of severe complications and death from COVID-19. There is therefore an urgent need to reduce the risks associated with multiple ...

• Improvement in glycaemic parameters using SGLT-2 inhibitor and GLP-1 agonist in combination in an adolescent with diabetes mellitus and Prader-Willi syndrome: a case report 

  McGregor, David; Moudiotis, Christopher (Sheridan PubFactory, 2020-07-28)

  Objectives Prader-Willi Syndrome (PWS) is characterised by hyperphagia often leading to obesity; a known risk factor for insulin resistance and type 2 (T2) diabetes. We present a prepubertal girl with PWS who developed ...

• HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome 

  De Franco, Elisa; Ellard, Sian (Wiley, 2020-07)

  Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in ...

• Outcomes of older patients with primary central nervous system lymphoma treated in routine clinical practice in the UK: methotrexate dose intensity correlates with response and survival 

  Ngu, Loretta (Wiley, 2020-08)

  Data on older patients with primary central nervous system lymphoma (PCNSL) are scarce. Comorbidities and performance status frequently compromise outcomes in this group. Medical records for consecutive patients ≥65 years ...

• Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations 

  Shaw-Smith, Charles (Wiley, 2020-06)

  Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and ...

• Primrose syndrome: Characterization of the phenotype in 42 patients 

  Turnpenny, Peter (Wiley, 2020-06)

  Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, ...

• Making connections: Social identification with new treatment groups for lifestyle management of severe obesity 

  Kos, K.; Daly, Mark; Gimbuta, Chloe (Wiley, 2020-04-08)

  Groups are regularly used to deliver healthcare services, including the management of obesity, and there is growing evidence that patients' experiences of such groups fundamentally shape treatment effects. This study ...

• Significance of a positive sentinel lymph node biopsy in staging for distant metastasis in breast cancer: are current guidelines relevant? 

  Ives, Christine; Hubbard, T. J. E. (Atypon, 2020-07)

  Introduction: In breast cancer, early identification of distant metastasis changes management. Current guidelines recommend radiological staging in patients with a preoperative positive axilla; no guidelines address a ...

• Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data 

  Wright, Caroline F. (Elsevier Science, 2019-11-07)

  Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the ...

• Characterization of colorectal mucus using infrared spectroscopy: a potential target for bowel cancer screening and diagnosis 

  Saunders, Sarah; Smart, Neil J.; Riley, Leah; Jeynes, Charles; Stone, Nick (Nature Publishing Group, 2020-08)

  Biological materials presenting early signs of cancer would be beneficial for cancer screening/diagnosis. In this respect, the suitability of potentially exploiting mucus in colorectal cancer was tested using infrared ...

• Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome 

  Cleaver, Ruth (Oxford University Press, 2020-07-21)

  CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due ...

• Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight 

  Hannon, Eilis; Mill, Jonathan (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 ...

• Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome 

  Stals, Karen; Ellard, Sian (Nature Publishing Group, 2020-05)

  An amendment to this paper has been published and can be accessed via a link at the top of the paper.

• Comparison of the management recommendations of the Kaiser Permanente neonatal early-onset sepsis risk calculator (SRC) with NICE guideline CG149 in infants ≥34 weeks' gestation who developed early-onset sepsis 

  Hagan, Hannah; Reid, Jennifer; Busfield, Alison (BMJ, 2020-03-13)

  Objective: To compare the management recommendations of the Kaiser Permanente neonatal early-onset sepsis risk calculator (SRC) with National Institute for Health and Care Excellence (NICE) guideline CG149 in infants ≥34 ...

• Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance 

  Gunning, Adam; Ellard, Sian (Nature Publishing Group, 2020-06)

  An amendment to this paper has been published and can be accessed via a link at the top of the paper.

• Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance 

  Gunning, Adam; Ellard, Sian (Nature Publishing Group, 2020-06)

  Purpose: Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined ...

• Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network 

  Ellard, Sian (Highwire, 2020-03-13)

  Advances in technology have led to a massive expansion in the capacity for genomic analysis, with a commensurate fall in costs. The clinical indications for genomic testing have evolved markedly; the volume of clinical ...

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